The Disease Ontology content is available via the Creative Commons Public Domain Dedication CC0 1.0 Universal license (https://creativecommons.org/publicdomain/zero/1.0/).
The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts.
disease
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007.
Reference database or publication source.
Use on obsolete terms, relating the term to another term that can be used as a substitute.
Gives a term which may be an appropriate substitute for an obsolete term, but needs to be looked at carefully by a human expert before the replacement is done.
An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity.
A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes).
A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably.
A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably.
A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad.
A skos concept mapping used to state an associative mapping link between two concepts.
Relating the disease to it’s causation (disease and disorder).
Relation defining child to partent inheritance type.
angiosarcoma
A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
hemangiosarcoma
vascular cancer
A cardiovascular cancer that is located_in blood vessels.
Blood vessel tumor
Blood vessel tumors
Blood vessel tumour disorder
Haemangiomatous tumour
blood vessel neoplasm
leiomyosarcoma of the renal Vein
malignant great vessel tumor
malignant tumor of pulmonary Vein
malignant tumor of pulmonary artery
malignant vascular neoplasm
malignant vascular tumor
neoplasm of great vessel
pulmonary artery malignant neoplasm
pulmonary vein malignant neoplasm
renal vein leiomyosarcoma
vascular tissue neoplasm
vascular tumors
pterygium
A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation.
surfer's eye
corneal disease
An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
disease of metabolism
A disease that involves errors in metabolic processes of building or degradation of molecules.
metabolic disease
shrimp allergy
A crustacean allergy that has_allergic_trigger shrimp.
crustacean allergy
A shellfish allergy triggered by Crustacea.
aspirin allergy
A drug allergy that has_allergic_trigger acetylsalicylic acid.
ASA allergy
acetylsalicylic acid allergy
drug allergy
An allergic disease that is triggered by a drug.
benzylpenicillin allergy
A beta-lactam allergy that has_allergic_trigger benzylpenicillin.
benzyl penicillin allergy
penicillin G allergy
beta-lactam allergy
A drug allergy triggered by a beta-lactam.
amoxicillin allergy
A beta-lactam allergy that has_allergic_trigger amoxicillin.
ceftriaxone allergy
A cephalosporin allergy that has_allergic_trigger ceftriaxone.
rocephin allergy
cephalosporin allergy
A drug allergy that has_allergic_trigger cephalosporin.
carbamazepine allergy
A drug allergy that has_allergic_trigger carbamazepine.
Tegretol allergy
carbamazepen allergy
abacavir allergy
A drug allergy that has_allergic_trigger abacavir.
ABC allergy
isoniazide allergy
A drug allergy that has_allergic_trigger isoniazide.
INH allergy
isonicotinylhydrazide allergy
lidocaine allergy
A drug allergy that has_allergic_trigger lidocaine.
Lidoderm allergy
lignocaine allergy
xylocaine allergy
mepivacaine allergy
A drug allergy that has_allergic_trigger mepivacaine.
Carbocaine allergy
Polocaine allergy
phenobarbital allergy
A drug allergy that has_allergic_trigger phenobarbital.
Luminal allergy
phenobarbitol allergy
phenobarbitone allergy
phenytoin allergy
A drug allergy that has_allergic_trigger phenytoin.
Dilantin allergy
ranitidine allergy
A drug allergy that has_allergic_trigger ranitidine.
Zantac allergy
corticosteroid allergy
A drug allergy that has_allergic_trigger corticosteroid.
sulfonamide allergy
A drug allergy that has_allergic_trigger sulfonamide.
sulfamethoxazole allergy
A drug allergy that has_allergic_trigger sulfamethoxazole.
SMX allergy
SMZ allergy
sulphamethoxazole allergy
suprofen allergy
A drug allergy that has_allergic_trigger suprofen.
Profenal allergy
thiopental allergy
A drug allergy that has_allergic_trigger thiopental.
penthiobarbital allergy
pentothiobarbital allergy
D-mannitol allergy
A drug allergy that has_allergic_trigger D-mannitol.
mannitol allergy
cefotaxime allergy
A cephalosporin allergy that has_allergic_trigger cefotaxime.
amodiaquine allergy
A drug allergy that has_allergic_trigger amodiaquine.
Camoquin allergy
Flavoquine allergy
cefaclor allergy
A cephalosporin allergy that has_allergic_trigger cefaclor.
Ceclor allergy
cephaclor allergy
ceftazidime allergy
A cephalosporin allergy that has_allergic_trigger ceftazidime.
Fortaz allergy
Tazicef allergy
cefuroxime allergy
A cephalosporin allergy that has_allergic_trigger cefuroxime.
Zinacef allergy
cephuroxime allergy
chlorhexidine allergy
A drug allergy that has_allergic_trigger chlorhexidine.
cyclophosphamide allergy
A drug allergy that has_allergic_trigger cyclophosphamide.
cytophosphane allergy
succinylcholine allergy
A drug allergy that has_allergic_trigger succinylcholine.
dicholine succinate allergy
succinocholine allergy
sux allergy
suxamethonium allergy
trimethoprim allergy
A drug allergy that has_allergic_trigger trimethoprim.
Primsol allergy
TMP allergy
proloprim allergy
cefixime allergy
A cephalosporin allergy that has_allergic_trigger cefixime.
diclofenac allergy
A drug allergy that has_allergic_trigger diclofenac.
Voltaren allergy
carbapenem allergy
A drug allergy that has_allergic_trigger carbapenems.
piperacillin allergy
A beta-lactam allergy that has_allergic_trigger piperacillin.
rocuronium allergy
A drug allergy that has_allergic_trigger rocuronium.
Esmeron allergy
Zemuron allergy
sulfasalazine allergy
A drug allergy that has_allergic_trigger sulfasalazine.
tubocurarine allergy
A drug allergy that has_allergic_trigger tubocurarine.
DTC allergy
aztreonam allergy
A beta-lactam allergy that has_allergic_trigger aztreonam.
Azactam allergy
Primbactam allergy
meropenem allergy
An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic.
Merrem allergy
allergic asthma
An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.
extrinsic asthma with acute exacerbation
extrinsic asthma with status asthmaticus
atopic asthma
hexamethylene diisocyanate allergic asthma
An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate.
allergic asthma to HDI
allergic asthma to HMDI
isocyanates allergic asthma
An allergic asthma that has_allergic_trigger isocyanates.
diphenylmethane-4,4'-diisocyanate allergic asthma
An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
allergic asthma to MDI
toluene meta-diisocyanate allergic asthma
An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate.
allergic asthma to TDI
methyl isocyanate allergic asthma
An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate.
allergic asthma to MIC
nickel allergic asthma
An allergic asthma that has_allergic_trigger nickel atom.
allergic asthma to Ni
metal allergy
An allergic disease that is triggered by a metal.
nickel allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger nickel atom.
allergic contact dermatitis to Ni
allergic contact dermatitis
A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
trimellitic anhydride allergic asthma
An allergic asthma that has_allergic_trigger trimellitic anhydride.
allergic asthma to TMA
phthalic anhydride allergic asthma
An allergic asthma that has_allergic_trigger phthalic anhydride.
maleic anhydride allergic asthma
An allergic asthma that has_allergic_trigger maleic anhydride.
allergic asthma to MA
tetrachlorophthalic anhydride allergic asthma
An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride.
hexahydrophthalic anhydride allergic asthma
An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride.
allergic asthma to HHPA
diphenylmethane-4,4'-diisocyanate allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
allergic contact dermatitis to MDI
cobalt allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger cobalt atom.
allergic contact dermatitis to Co
cobalt allergic asthma
An allergic asthma that has_allergic_trigger cobalt atom.
Co allergic asthma
palladium allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger palladium.
allergic contact dermatitis to Pd
chromium allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger chromium atom.
benzoic acid allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger benzoic acid.
allergic contact dermatitis to benzoate
1,4-phenylenediamine allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine.
allergic contact dermatitis to PPD
allergic contact dermatitis to p-phenylenediamine
potassium dichromate allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger potassium dichromate.
ketoprofen photoallergic dermatitis
A photoallergic dermatitis that has_allergic_trigger ketoprofen.
photoallergic dermatitis to Orudis
photoallergic dermatitis
An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema.
Photoallergic contact dermatitis
Photoallergic eczema
remazole black respiratory allergy
A respiratory allergy that has_allergic_trigger remazole black-GR.
respiratory allergy to Reactive Black 5
respiratory allergy
An allergic disease that is located_in the respiratory tract.
airway allergy
chloramine T respiratory allergy
A respiratory allergy that has_allergic_trigger chloramine T.
respiratory allergy to Chloraseptin
respiratory allergy to Chlorazol
respiratory allergy to Trichlorol
4-vinylcyclohexene dioxide respiratory allergy
A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide.
respiratory allergy to vinyl cyclohexene diepoxide
carvone allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger (-)-carvone.
allergic contact dermatitis to levo-carvone
quinidine allergy
A drug allergy that has_allergic_trigger quinidine.
Kinidin allergy
melphalan allergy
A drug allergy that has_allergic_trigger melphalan.
Alkeran allergy
neomycin sulfate allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.
allergic contact dermatitis to neomycin sulphate
4-tert-butylphenol allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol.
allergic contact dermatitis to PTBP
allergic contact dermatitis to butylphen
1-chloro-2,4-dinitrobenzene allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.
allergic contact dermatitis to DNCB
allergic contact dermatitis to dinitrochlorobenzene
co-trimoxazole allergy
A drug allergy that has_allergic_trigger co-trimoxazole.
Bactrim allergy
TMP/SMX allergy
cotrimoxazol allergy
trimethoprim/sulfamethoxazole allergy
sodium aurothiomalate allergy
A drug allergy that has_allergic_trigger sodium aurothiomalate.
gold sodium thiomalate allergy
parthenolide allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger parthenolide.
allergic contact dermatitis to feverfew
disodium cromoglycate allergy
A drug allergy that has_allergic_trigger disodium cromoglycate.
DSCG allergy
formaldehyde allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger formaldehyde.
allergic contact dermatitis to formalin
benzo[d]isothiazol-3-one allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one.
allergic contact dermatitis to BIT
allergic contact dermatitis to benzisothiazolone
phthalyl group allergy
A drug allergy that has_allergic_trigger phthalyl group.
phthalyl allergy
alcuronium bromide allergy
A drug allergy that has_allergic_trigger alcuronium bromide.
gallamine allergy
A drug allergy that has_allergic_trigger gallamine.
2,4-dinitrophenyl allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group.
allergic contact dermatitis to DNP
patent blue V allergy
A drug allergy that has_allergic_trigger patent blue V.
acid anhydride respiratory allergy
A respiratory allergy that has_allergic_trigger acid anhydride.
oxirane allergy
A drug allergy that has_allergic_trigger oxirane.
ETO allergy
ethylene oxide allergy
Chlamydia pneumonia
A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae.
bacterial pneumonia
A pneumonia involving inflammation of the lungs caused by bacteria.
Pneumonia due to other gram-negative bacteria
gram-negative pneumonia
Streptococcus pneumonia
A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae.
bacterial sepsis
A bacterial infectious disease has_material_basis_in Bacteria.
bacterial infectious disease
A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
Polyomavirus-associated nephropathy
A viral infectious disease has_material_basis_in BK polyomavirus (Betapolyomavirus hominis).
PVAN
polyomavirus associated nephropathy
kidney disease
A urinary system disease that is located_in the kidney.
impaired renal function disease
nephropathy
viral infectious disease
A disease by infectious agent that results in infection, has_material_basis_in Viruses.
Viral Infection
Viral disease
virus infection
autoimmune peripheral neuropathy
An autoimmune disease of peripheral nervous system that results in peripheral neuropathy.
autoimmune disease of peripheral nervous system
An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
autoimmune uveitis
An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea.
autoimmune disease of eyes, ear, nose and throat
An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.
uveal disease
An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
autoimmune optic neuritis
An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain.
autoimmune gastritis
An autoimmune disease of gastrointestinal tract that is located_in the stomach.
autoimmune disease of gastrointestinal tract
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
stomach disease
A gastrointestinal system disease that is located_in the stomach.
Gastropathy
stomach disorder
gastric disease
autoimmune pancreatitis
An autoimmune disease of endocrine system that is located_in the pancreas.
autoimmune disease of endocrine system
An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
pancreas disease
An endocrine system disease that is located_in the pancreas.
juvenile ankylosing spondylitis
An ankylosing spondylitis with onset during childhood.
ankylosing spondylitis
An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
Bekhterev syndrome
Bekhterev's disease
Marie-Strumpell disease
drug-induced lupus erythematosus
A lupus erythematosus caused by chronic use of certain drugs.
DIL
DILE
lupus erythematosus
An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs.
lupus
autoimmune glomerulonephritis
An autoimmune disease of urogenital tract that is located_in the renal glomerulus.
autoimmune disease of urogenital tract
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
autoimmune cardiomyopathy
An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle.
autoimmune disease of cardiovascular system
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
heart disease
A cardiovascular system disease that involves the heart.
autoimmune atherosclerosis
An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries.
autoimmune vasculitis
An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels.
pemphigus gestationis
A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180.
pemphigus
An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.
livedoid vasculitis
A vasculitis with purpuric ulcers.
livedoid vasculopathy
vasculitis
A vascular disease that is characterized by inflammation of the blood vessels.
Angiitis
Hirata disease
An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.
insulin autoimmune syndrome
N,N'-diphenylthiourea allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.
neoprene allergy
N,N'-diethylthiourea allergic contact dermatitis
An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.
cefotiam allergy
A cephalosporin allergy that has_allergic_trigger cefotiam.
toluene 2,4-diisocyanate allergic asthma
A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate.
obsolete Actinomadura madurae infectious disease
obsolete Actinomadura pelletieri infectious disease
obsolete Streptomyces somaliensis infectious disease
seminal vesicle acute gonorrhea
A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection.
gonococcal seminal vesiculitis
Gonorrhea of seminal vesicle
obsolete cutaneous strongyloidiasis
A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas.
obsolete intestinal strongyloidiasis
A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis.
obsolete Mansonella perstans infectious disease
A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease.
obsolete Mansonella streptocerca infectious disease
A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease.
chikungunya
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
Chikungunya fever
obsolete carbohydrate metabolism disease
An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
obsolete epizootic hemorrhagic disease
A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum.
EHD
obsolete Rocio virus encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome.
obsolete Ehrlichia ewingii ehrlichiosis
human granulocytic anaplasmosis
An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
human granulocytic ehrlichiosis
HGE
ehrlichiosis
A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
human ehrlichiosis
human monocytic ehrlichiosis
An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
Ehrlichiosis chafeensis
mineral metabolism disease
An acquired metabolic disease that is characterized by abnormal mineral metabolism.
acquired metabolic disease
A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
African tick-bite fever
A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
Rickettsia africae spotted fever
south african tick-bite fever
spotted fever
A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
Spotted fever group rickettsial disease
Astrakhan spotted fever
A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
Indian tick typhus
A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
Israeli tick typhus
A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
Israeli spotted fever
Far Eastern spotted fever
A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
Rickettsia heilongjiangensis spotted fever
Flinders Island spotted fever
A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
Thai tick typhus
FISF
Japanese spotted fever
A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
Rickettsia japonica spotted fever
oriental spotted fever
Rickettsia parkeri spotted fever
A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.
maculatum infection
Rocky Mountain spotted fever
A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
Tick typhus
Brazilian spotted
Choix
Exanthematic typhus of Sao Paulo
Fiebre maculosa
Fiebre manchada
Sao Paulo typhus
So Paulo fever
Tobia fever
obsolete Rickettsia honei spotted fever
oropharyngeal anthrax
A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.
gastrointestinal anthrax
An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.
erysipeloid
A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
primary bacterial infectious disease
A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
obsolete abortive plague
obsolete cutaneous listeriosis
obsolete Listeria meningoencephalitis
obsolete Listeria septicaemia
obsolete pestis minor
A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.
obsolete Yersinia pestis infectious disease
obsolete plague meningitis
adiaspiromycosis
A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
primary systemic mycosis
A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
invasive aspergillosis
An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
aspergillosis
An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
Infection due to Aspergillus
Updating out dated CUI and removing lung abscess as a synonym.
lung disease
A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
pneumonia
A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
acute pneumonia
obsolete tonsillar aspergillosis
An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.
obsolete pulmonary blastomycosis
A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules.
obsolete cervix tuberculosis
obsolete niacin deficiency
obsolete iodine deficiency
obsolete hepatic Torque teno virus infectious disease
A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion.
TT virus liver infection
Transfussion-transmitted virus liver infection
human circovirus infectious disease
Keshan disease
A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.
nutritional deficiency disease
A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
Not a human disease.
obsolete rhinotracheitis
An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
Feline viral rhinotracheitis
feline coryza
feline influenza
obsolete entomophthoromycosis
A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.
obsolete cutaneous mucormycosis
An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle.
obsolete gastrointestinal mucormycosis
A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting.
obsolete pulmonary mucormycosis
An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis.
obsolete rhinocerebral mucormycosis
An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures.
obsolete disseminated paracoccidioidomycosis
A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.
obsolete pulmonary paracoccidioidomycosis
A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss.
obsolete disseminated sporotrichosis
A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
obsolete lymphocutaneous sporotrichosis
A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.
obsolete pulmonary sporotrichosis
A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.
tinea barbae
A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
dermatophytosis of beard
skin disease
An integumentary system disease that is located_in skin.
Genodermatosis
skin and subcutaneous tissue disease
dermatophytosis
A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body.
ringworm
ectothrix infectious disease
A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft.
hair disease
An integumentary system disease that is located_in hair.
tinea capitis
A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
Scalp ringworm
Trichophyton rubrum tinea capitis
dermatophytosis of scalp or beard
tinea capitis due to Trichophyton rubrum
Dermatophytosis of scalp
obsolete Microsporum audouinii tinea capitis
An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.
obsolete Microsporum canis tinea capitis
An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis.
obsolete Microsporum distortum tinea capitis
An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals.
obsolete Microsporum ferrugineum tinea capitis
An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum.
obsolete Microsporum gypseum tinea capitis
An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions.
obsolete Microsporum nanum tinea capitis
An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans.
obsolete Trichophyton verrucosum tinea capitis
An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum.
endothrix infectious disease
A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
obsolete Trichophyton soudanense tinea capitis
An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense.
obsolete Trichophyton tonsurans tinea capitis
An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions.
obsolete Trichophyton violaceum tinea capitis
An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots.
obsolete Trichophyton schoenleinii tinea capitis
A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss.
obsolete Microsporum fulvum tinea capitis
An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum.
obsolete Trichophyton megninii tinea capitis
An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii.
obsolete Trichophyton equinum tinea capitis
An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum.
obsolete Trichophyton yaoundei tinea capitis
An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions.
tinea imbricata
A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
tinea corporis
A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly.
Dermatophytosis of the trunk
dermatophytosis of the body
disease by infectious agent
A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
infectious disease
La Crosse encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus (Orthobunyavirus lacrosseense), which is primarily transmitted_by treehole mosquito (Ochlerotatus triseriatus) but also Asian tiger mosquito (Aedes albopictus) and Asian bush mosquito (Aedes japonicus). The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
California Encephalitis
California virus encephalitis
Neuroinvasive California encephalitis virus infection
brain disease
A central nervous system disease that is located_in the brain.
encephalopathy
obsolete West Nile virus neurological syndrome
A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder.
WNND
WNNS
West nile neuroinvasive disease
Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].
hemophagocytic lymphohistiocytosis
A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
haemophagocytic syndrome
lymphatic system disease
An immune system disease that is located_in the lymphatic system.
Lymphangiopathy
Lymphatic disease
disease of lympoid system
disorder of lymph node and lymphatics
disorder of lymphatic system
disorder of lymphoid system
lymphatic disorder
lympoid system disease
obsolete tuberculous encephalitis
dengue shock syndrome
A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
DSS
dengue disease
A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
Dengue Fever
breakbone fever
classic dengue
classical dengue
obsolete Tahyna virus encephalitis
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
valtice fever
Tahyna virus infection
sinusitis
A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
paranasal sinus disease
disorder of nasal sinus
secretory diarrhea
A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.
diarrhea is both a disease and a symptom [ms]
diarrhea
A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
diarrhea of presumed infectious origin
diarrhoea
osmotic diarrhea
A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
motility-related diarrhea
A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
inflammatory diarrhea
A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
Adding a UMLS CUI for piedra C2980104.
superficial mycosis
A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
Steroid-modified tinea infection
piedra
fungal infectious disease
A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
mycosis
mycoses
cutaneous mycosis
A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
subcutaneous mycosis
A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
systemic mycosis
A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
podoconiosis
An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits.
elephantiasis
A lymphedema that is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels resulting in the enlargement and hardening of limbs or body parts due to tissue swelling (edema).
obsolete Opisthorchis felineus infectious disease
A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage.
acute diarrhea
A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
intestinal botulism
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins.
botulism
A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
Botulism poisoning
Food poisoning due to Clostridium botulinum
Foodborne botulism
Infection due to clostridium botulinum
Intoxication with Clostridium botulinum toxin
asymptomatic dengue
A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
Kartagener syndrome
A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
Kartagener's syndrome
Xref MGI. OMIM mapping confirmed by DO. [SN].
primary ciliary dyskinesia
A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
ciliary motility disorder
immotile ciliary syndrome
adenoiditis
An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing.
chronic adenoiditis
upper respiratory tract disease
A respiratory system disease which involves the upper respiratory tract.
otomycosis
An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
Singapore ear
otitis externa
An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.
swimmer's ear
laryngotracheitis
An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
Pontiac fever
A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
legionellosis
A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
Legionella infection
obsolete tracheobronchial tuberculosis
A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever.
aspiration pneumonia
A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
pulmonary aspergilloma
An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
obsolete mycoplasmal pneumonia
A bacterial pneumonia caused by the genus Mycoplasma.
sensory system disease
A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
nervous system disease
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
OMIM mapping confirmed by DO. [SN].
idiopathic pulmonary fibrosis
A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.
FIBROCYSTIC PULMONARY DYSPLASIA
IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
cryptogenic fibrosing alveolitis
autosomal dominant disease
An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
pulmonary fibrosis
An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.
Fibrosis of lung
cryptogenic organizing pneumonia
An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
BOOP
Cryptogenic organising pneumonitis
Cryptogenic organizing pneumonitis
bronchiolitis obliterans organising pneumonia
bronchiolitis obliterans organizing pneumonia
cryptogenic organising pneumonia
idiopathic bronchiolitis obliterans with organising pneumonia
idiopathic bronchiolitis obliterans with organizing pneumonia
idiopathic interstitial pneumonia
A pneumonia located_in the lung parenchyma of unknown cause.
Diffuse idiopathic pulmonary fibrosis
Idiopathic fibrosing alveolitis
IPF
desquamative interstitial pneumonia
An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
RBILD
familial desquamative interstitial pneumonitis
respiratory bronchiolitis-associated interstitial lung disease
lymphoid interstitial pneumonia
An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
inhalation anthrax
An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
pulmonary anthrax
respiratory anthrax
wool-sorters' disease
woolsorters' disease
anthrax disease
A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
lower respiratory tract disease
A respiratory system disease which involves the lower respiratory tract.
respiratory system disease
A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
obsolete influenza encephalopathy
obsolete influenza myocarditis
obsolete influenza myositis
obsolete tuberculous mesenteric gland
A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain.
tuberculous salpingitis
An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
fallopian tube disease
A female reproductive system disease that is located_in the fallopian tube.
urogenital tuberculosis
An extrapulmonary tuberculosis that is located_in urogenital system.
Genitourinary tuberculosis
autoimmune polyendocrine syndrome type 1
An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
Autoimmune Polyglandular Syndrome I
Whitaker syndrome
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
autoimmune polyendocrine syndrome
An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
Autoimmune polyglandular failure
Lloyd's syndrome
autoimmune polyendocrinopathy
autoimmune polyendocrine syndrome type 2
An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
Schmidt syndrome
cutaneous lupus erythematosus
A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
obsolete Jamestown Canyon encephalitis
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures.
obsolete snowshoe hare encephalitis
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.
obsolete trivittatus encephalitis
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma.
obsolete inkoo encephalitis
A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures.
Kunjin encephalitis
A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
West Nile encephalitis
A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis.
West Nile Fever with encephalitis
West Nile fever encephalitis
tick-borne encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
Central European encephalitis
Far Eastern TBE
Russian spring-summer encephalitis
Siberian tick-borne encephalitis
Taiga encephalitis
Western European tick-borne encephalitis
west-Siberian encephalitis
monogenic disease
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
genetic disease
A disease that has_material_basis_in genetic variations in the human genome.
obsolete complex genetic disease
A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele).
Powassan encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
obsolete Colorado tick fever encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss.
obsolete Herpes simplex virus encephalitis
A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations.
obsolete Varicella-zoster virus encephalitis
A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias.
Herpes zoster encephalitis
Postchickenpox encephalitis
Varicella Zoster Encephalitis
postvaricella encephalitis
obsolete Epstein-Barr virus encephalitis
An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.
obsolete Measles virus encephalitis
A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia.
Post measles encephalitis (disorder)
Post-measles encephalitis
postmeasles encephalitis
erythema multiforme
A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
allergic disease
An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
allergic hypersensitivity disease
hypersensitivity
hypersensitivity reaction type I disease
obsolete Cytomegalovirus encephalitis
A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.
obsolete Rubella virus encephalitis
A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma.
obsolete coxsackievirus encephalitis
An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma.
obsolete polioencephalitis
An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.
obsolete adenovirus encephalitis
An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures.
obsolete influenza virus encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies.
Nipah virus encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus (Henipavirus nipahense), which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma.
obsolete Lymphocytic choriomeningitis virus encephalitis
A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
Argentine hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus (Mammarenavirus juninense), which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
Arenaviridae infectious disease
A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses.
Bolivian hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus (Mammarenavirus machupoense), which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
Venezuelan hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus (Mammarenavirus guanaritoense), which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
Brazilian hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus (Mammarenavirus brazilense), which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
Chapare hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus (Mammarenavirus chapareense). The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding.
Whitewater Arroyo hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus (Mammarenavirus whitewaterense), which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.
Korean hemorrhagic fever
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
Hantavirus hemorrhagic fever with renal syndrome
A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
HFRS
Hemorrhagic fever, Russian
Hemorrhagic nephrosonephritis
Puumala virus nephropathy
hemorrhagic fever renal syndrome
nephropathia epidemica
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
Lujo hemorrhagic fever
A viral infectious disease that results_in infection, has_material_basis_in Lujo virus (Mammarenavirus lujoense), which has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom thrombocytopenia, and has_symptom bleeding. Bleeding is minor and not a prominent symptom.
obsolete Cytomegalovirus hepatitis
A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood.
Epstein-Barr virus hepatitis
A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
viral hepatitis
A hepatitis that involves viral infection causing inflammation of the liver.
Viral hepatitis with hepatic coma
animal viral hepatitis
human viral hepatitis
Epstein-Barr virus infectious disease
A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).
EBV Infection
Epstein-Barr virus infection
obsolete Herpes simplex virus hepatitis
A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions.
obsolete adenovirus hepatitis
An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage.
obsolete Rubella virus hepatitis
A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis.
obsolete yellow fever hepatitis
A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations.
obsolete Measles virus hepatitis
A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice.
obsolete Varicella-zoster virus hepatitis
A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue.
swine influenza
An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
influenza
A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.
Influenza with other manifestations
flu
influenza with non-respiratory manifestation
obsolete Campylobacter jejuni gastroenteritis
A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting.
Campylobacter Gastroenteritis
obsolete Vibrio gastroenteritis
A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea.
Lambert-Eaton myasthenic syndrome
A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
Eaton-Lambert syndrome
LEMS
Lambert-Eaton syndrome
autoimmune disease of musculoskeletal system
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
neuromuscular junction disease
A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
Xref MGI.
autoimmune disease
An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
autoimmune hypersensitivity disease
hypersensitivity reaction type II disease
obsolete Staphylococcus gastroenteritis
A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever.
Staphylococcus Aureus Gastroenteritis
obsolete Bacillus cereus gastroenteritis
A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea.
obsolete Sapovirus gastroenteritis
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea.
polycystic echinococcosis
An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
human polycystic hydatid disease
neotropical echinococcosis
echinococcosis
A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
Echinococcosis of liver
echinococcal disease
hepatic echinococcosis
hydatid disease
hydatidosis
liver echinococcus
pulmonary echinococcosis
liver disease
disorder of liver
hepatic disorder
obsolete Hepeviridae infectious disease
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
obsolete Coxiella burnetii pneumonia
A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission.
Q fever pneumonia
obsolete Coxiella burnetii hepatitis
A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.
Q fever hepatitis
selective IgM deficiency disease
A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
dysgammaglobulinemia
A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
obsolete candidal gastritis
A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting.
obsolete Helicobacter heilmannii infectious disease
A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration.
obsolete Histoplasma capsulatum gastritis
An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds.
obsolete Morganella morganii intestinal infectious disease
An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.
obsolete Vibrio cholerae O139 cholera
A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.
obsolete amebic dysentery
An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever.
Entamoeba histolytica dysentery
amebic dysentery
amoebic dysentery
obsolete Escherichia coli dysentery
An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration.
obsolete intestinal capillariasis
A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea.
obsolete hepatic capillariasis
A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly.
obsolete pulmonary capillariasis
A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.
obsolete Balamuthia mandrillaris infectious disease
A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals.
obsolete Acanthamoeba infectious disease
A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system.
free-living ameba infectious disease
obsolete Alveolata infectious disease
A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.
obsolete Heterolobosea infectious disease
A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage.
obsolete Euglenozoa infectious disease
A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.
obsolete Parabasalia infectious disease
A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.
obsolete Fornicata infectious disease
A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.
obsolete Trichomonadida infectious disease
A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole.
obsolete Tritrichomonadida infectious disease
A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body.
primary amebic meningoencephalitis
A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
Naegleria fowleri infection
parasitic protozoa infectious disease
A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
mastigophora infectious disease
sarcomastigophora infectious disease
central nervous system disease
A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
obsolete Apicomplexa infectious disease
An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans.
obsolete Coccidia infectious disease
An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans.
obsolete Aconoidasida infectious disease
An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.
granulomatous amebic encephalitis
A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
Acanthamoeba encephalitis
Acanthamoeba granulomatous encephalitis
Granulomatous Amebic Encephalitis due to Acanthamoeba
granulomatous amoebic encephalitis
obsolete parasitic stramenopiles infectious disease
A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms.
obsolete Brugia timori filariasis
A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.
philophthalmiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction.
eye disease
An eye and adnexa disease that is located_in the eye.
parasitic helminthiasis infectious disease
A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
helminth infection
helminthiasis
helminthosis
worm infection
coenurosis
A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections.
obsolete Dipylidium caninum infectious disease
A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness.
mesocestoidiasis
A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
acanthocephaliasis
A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
obsolete Uncinaria stenocephala infectious disease
A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections.
angiostrongyliasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
intestinal disease
A gastrointestinal system disease that is located_in the intestine.
obsolete Angiostrongylus cantonensis infectious disease
An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur.
obsolete Angiostrongylus costaricensis infectious disease
An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity.
baylisascariasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
spinal cord disease
myelopathy
dioctophymiasis
A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
thelaziasis
A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs.
obsolete Acoelomata infectious disease
A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity.
obsolete Pseudocoelomata infectious disease
A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals.
obsolete Acanthocephala infectious disease
A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host.
obsolete tick paralysis
tungiasis
A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
parasitic ectoparasitic infectious disease
A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.
ectoparasitism
obsolete Ancylostoma caninum ancylostomiasis
ophthalmomyiasis
A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
myiasis
A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
Infestation by fly larvae
Infestation by maggots
Maggot infestation
Trichomonas vaginalis trichomoniasis
A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
urogenital trichomonas
vaginal disease
A female reproductive system disease that is located_in the vagina.
trichomoniasis
A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
trichomonas infection
vulvar disease
A female reproductive system disease that is located_in the vulva.
cervix disease
An uterine disease that is located_in the cervix.
urethral disease
A urinary system disease that is located_in the urethra.
urethra disease
Trichomonas tenax trichomoniasis
A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx.
mouth disease
A gastrointestinal system disease that is located_in the mouth.
obsolete cutaneous ascomycota mycosis
A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members.
obsolete cutaneous basidiomycota mycosis
A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.
obsolete Neoscytalidium dimidiatum infectious disease
A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
obsolete Scopulariopsis infectious disease
An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals.
obsolete onychomycosis
A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed.
obsolete subcutaneous ascomycota mycosis
A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members.
obsolete subcutaneous fungi incertae sedis mycosis
A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members.
basidiobolomycosis
A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated.
conidiobolomycosis
An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
obsolete superficial ascomycota mycosis
A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members.
obsolete superficial basidiomycota mycosis
A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members.
obsolete primary systemic ascomycota mycosis
A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members.
obsolete Stachybotrys infectious disease
A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants.
obsolete opportunistic ascomycota mycosis
An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota.
obsolete opportunistic basidiomycota mycosis
An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members.
obsolete opportunistic fungi incertae sedis mycosis
An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.
obsolete opportunistic microsporidia mycosis
An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.
penicilliosis
An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
opportunistic mycosis
A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices.
Opportunistic mycoses
opportunistic systemic mycoses
fusariosis
An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
trichosporonosis
An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
parasitic Ichthyosporea infectious disease
A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
parasitic infectious disease
A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
Ectoparasitic disease
parasitemia
obsolete Scopulariopsis brevicaulis infectious disease
An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
obsolete Scytalidium hyalinum infectious disease
A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface.
obsolete cutaneous sporotrichosis
A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain.
plaque sporotrichosis
obsolete Asfarviridae infectious disease
A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite.
obsolete primary Francisellaceae infectious disease
obsolete adenovirus infectious disease
A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses.
Adenoviridae infectious disease
obsolete Simplexvirus infectious disease
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus.
obsolete Deltavirus infectious disease
A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.
obsolete Polyomaviridae infectious disease
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.
obsolete Varicellovirus infectious disease
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.
obsolete Hepacivirus infectious disease
A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.
aniseikonia
A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.
refractive error
obsolete Arteriviridae infectious disease
A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.
obsolete familial abdominal aortic aneurysm
obsolete Bornaviridae infectious disease
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.
Alkhumra hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever.
Alkhurma hemorrhagic fever
obsolete Measles virus infectious disease
A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person.
obsolete primary Listeriaceae infectious disease
obsolete primary Helicobacteraceae infectious disease
obsolete primary Campylobacteraceae infectious disease
obsolete primary Brucellaceae infectious disease
obsolete primary Erysipelotrichaceae infectious disease
obsolete commensal Clostridiaceae infectious disease
obsolete commensal Staphylococcaceae infectious disease
obsolete commensal Streptococcaceae infectious disease
obsolete primary Burkholderiaceae infectious disease
obsolete primary Legionellaceae infectious disease
obsolete commensal Alcaligenaceae infectious disease
obsolete opportunistic Pseudomonadaceae infectious disease
obsolete primary Vibrionaceae infectious disease
obsolete primary Coxiellaceae infectious disease
obsolete physical disorder OBSOLETED TERM
A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM).
obsolete genetic disorder
A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
obsolete peripheral dysostosis
Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation
congenital hypothyroidism
A hypothyroidism that is present at birth.
physical disorder
A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
congenital disorder
hypothyroidism
A thyroid gland disease which involves an underproduction of thyroid hormone.
Thyroid deficiency
Thyroid insufficiency
obsolete mental disorder
A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture.
lacrimoauriculodentodigital syndrome 1
A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
LEVY-HOLLISTER SYNDROME
Lacrimo-auriculo-dento-digital syndrome 1
LADD syndrome
A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers.
Lacrimo-auriculo-dento-digital (LADD) syndrome
lacrimoauriculodentodigital syndrome
enlarged vestibular aqueduct
A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.
vestibular disease
An inner ear disease that is located in the vestibular system.
Vertigo, vestibular disorder
obsolete congenital anosmia
obsolete thiourea tasting
PHENYLTHIOCARBAMIDE TASTING, INCLUDED
PROPYLTHIOURACIL TASTING, INCLUDED
bradyopsia
A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions.
prolonged electroretinal response suppression
autosomal recessive disease
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
retinal disease
An eye disease that is located_in the retina.
hypophosphatemia
A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.
phosphorus metabolism disease
Phosphorus disorder
disorder of phosphorus metabolism
phosphorus metabolism disorder
osteoarthritis
An arthritis that has_material_basis_in worn out cartilage located_in joint.
Osteoarthrosis and allied disorder
degenerative arthritis
degenerative joint disease
hypertrophic arthritis
osteoarthrosis
obsolete Burkholderia cepacia infectious disease
commensal bacterial infectious disease
A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
opportunistic bacterial infectious disease
A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
obsolete opportunistic Actinomycetales infectious disease
obsolete commensal Actinomycetales infectious disease
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora.
obsolete Gardnerella vaginalis vaginosis
obsolete commensal Bifidobacteriaceae infectious disease
obsolete primary Thermomonosporaceae infectious disease
obsolete primary Corynebacteriaceae infectious disease
obsolete primary Mycobacteriaceae infectious disease
obsolete primary Streptomycetaceae infectious disease
obsolete opportunistic Nocardiaceae infectious disease
obsolete primary Clostridiaceae infectious disease
obsolete primary Clostridium infectious disease
foodborne botulism
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis.
wound botulism
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
infant botulism
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
obsolete opportunistic Burkholderiaceae infectious disease
obsolete Burkholderia cenocepacia infectious disease
obsolete commensal Chlamydiaceae infectious disease
obsolete Bilophila wadsworthia necrotizing fasciitis
obsolete commensal Enterobacteriaceae infectious disease
obsolete opportunistic Enterobacteriaceae infectious disease
obsolete Elizabethkingia meningoseptica infectious disease
obsolete Capnocytophaga canimorsus infectious disease
obsolete opportunistic Flavobacteriaceae infectious disease
obsolete Chryseobacterium indologenes infectious disease
obsolete Empedobacter brevis endophthalmitis
obsolete Myroides odoratus necrotizing fasciitis
obsolete commensal Fusobacteriaceae infectious disease
obsolete primary Mycoplasmataceae infectious disease
obsolete commensal Neisseriaceae infectious disease
obsolete commensal Pasteurellaceae infectious disease
obsolete commensal Haemophilus infectious disease
obsolete Leptospiraceae infectious disease
obsolete Spirochaetaceae infectious disease
obsolete primary Spirillaceae infectious disease
obsolete anaplasmosis
obsolete Burkholderia cepacia complex infectious disease
obsolete opportunistic Campylobacteraceae infectious disease
obsolete Campylobacter fetus infectious disease
obsolete Campylobacter coli infectious disease
obsolete Chlamydia trachomatis epididymitis
glandular tularemia
A tularemia that results_in swelling of regional lymph glands.
tularemia
A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues.
typhoidal tularemia
A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
obsolete commensal Helicobacteraceae infectious disease
obsolete commensal Helicobacter infectious disease
obsolete Acinetobacter baumannii pneumonia
nonpapillary renal cell carcinoma
A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.
hereditary renal cell carcinoma
obsolete Bacteroides fragilis peritonitis
obsolete Capnocytophaga canimorsus meningitis
obsolete Capnocytophaga canimorsus endocarditis
obsolete Elizabethkingia meningoseptica meningitis
obsolete streptococcal necrotizing fasciitis
obsolete Chryseobacterium indologenes pneumonia
obsolete nocardial pneumonia
obsolete nocardial cellulitis
obsolete nocardial keratitis
obsolete cerebral Bilophila wadsworthia infectious disease
Carrion's disease
A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
Carrion disease
Oroya fever
bartonellosis
A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
Bartonella infectious disease
Rochalimaea infection
bartonelliasis
obsolete Bordetella pertussis whooping cough
obsolete Pseudomonas urinary tract infectious disease
obsolete Pseudomonas endocarditis
obsolete Pseudomonas keratitis
obsolete commensal Mycoplasmatales infectious disease
obsolete commensal Mycoplasmataceae infectious disease
obsolete Mycoplasma genitalium urethritis
obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis
obsolete commensal Mycoplasma infectious disease
obsolete Staphylococcus aureus ecthyma
obsolete Streptococcus pyogenes ecthyma
obsolete streptococcal erysipelas
obsolete Staphylococcus aureus erysipelas
obsolete Streptococcus impetigo
obsolete Staphylococcus aureus impetigo
obsolete Streptococcus lymphangitis
obsolete Staphylococcus aureus lymphangitis
obsolete Streptococcus agalactiae meningitis
obsolete Streptococcus equisimilis meningitis
Streptococcus dysgalactiae subsp. equisimilis meningitis
obsolete Streptococcus zooepidemicus meningitis
Streptococcus equi subsp. zooepidemicus meningitis
complement factor I deficiency
A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.
C3 INACTIVATOR DEFICIENCY
COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
complement deficiency
A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
Complement deficiency disease
obsolete primary Streptococcaceae infectious disease
obsolete primary streptococcal infectious disease
obsolete Yersinia pseudotuberculosis gastroenteritis
obsolete enteroaggregative Escherichia coli infectious disease
enteroaggregative E.coli infection
familial adenomatous polyposis
An intestinal disease that is characterized by predisposition to colon cancer.
adenomatous polyposis of the colon
autosomal genetic disease
A monogenic disease that has_material_basis_in a mutation on one of the non-sex chromosomes.
restless legs syndrome
A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
WED
Willis-Ekbom disease
Wittmaack-Ekbom syndrome
Stevens-Johnson syndrome
A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.
xeroderma pigmentosum
A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
syndrome
A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
nonepidermolytic palmoplantar keratoderma
A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
NEPPK
Thost-Unna Syndrome
Unna-Thost Syndrome
diffuse nonepidermolytic palmomplantar keratoderma
tylosis
palmoplantar keratosis
A keratosis characterized by abnormal thickening of the palms and the soles.
Keratosis palmaris et plantaris
Palmoplantar Keratoderma
palmo-plantar keratodermas
Hailey-Hailey disease
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
BENIGN CHRONIC PEMPHIGUS
Pemphigus, Benign Familial
multiple endocrine neoplasia type 2A
A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
MEN2A
Sipple syndrome
multiple endocrine neoplasia II
multiple endocrine neoplasia
A syndrome that is characterized by tumors in at least two endocrine glands.
Multiple endocrine adenomatosis
Multiple endocrine neoplasia syndrome
arrhythmogenic right ventricular cardiomyopathy
An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.
ARVC
ARVC cardiomyopathy
ARVD
arrhythmogenic right ventricular dysplasia
arrhythmogenic right ventricular dysplasia/cardiomyopathy
right ventricular ACM
intrinsic cardiomyopathy
A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
Multiple OMIM IDs are susceptibility terms [LS]
Asperger syndrome
An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
autism spectrum disorder
A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
fatal familial insomnia
A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
prion disease
A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
Prion disease pathway
Prion protein disease
Spongiform Encephalopathy
prion induced disorder
transmissible spongiform encephalopathy
Andersen-Tawil syndrome
A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Andersen syndrome
LQT7
Long QT syndrome 7
Potassium-Sensitive Cardiodysrhythmic Type
long QT syndrome
An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
LQT
long Q-T syndrome
Romano-Ward syndrome
mulibrey nanism
A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
MUL
Mulibrey growth disorder
Muscle-Liver-Brain-Eye Nanism
PERICARDIAL CONSTRICTION AND GROWTH FAILURE
Perheentupa Syndrome
Danon disease
A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
ANTOPOL DISEASE
PSEUDOGLYCOGENOSIS II
X-linked dominant disease
A X-linked monogenic disease that has_material_basis_in dominant inheritance.
lysosomal storage disease
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
disorder of lysosomal enzyme
inborn lysosomal enzyme disorder
lysosomal storage metabolism disorder
Frasier syndrome
A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
Xref MGI. OMIM mapping confirmed by DO. [LS].
Usher syndrome
A syndrome characterized by a combination of hearing loss and visual impairment.
familial partial lipodystrophy
A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
Dunnigan Syndrome
Koberling-Dunnigan Syndrome
partial lipodystrophy
A lipodystrophy that is characterized by partial loss of adipose tissue.
mucosulfatidosis
A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
Sulfatidosis, Juvenile, Austin Type
multiple sulfatase deficiency disease
sphingolipidosis
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
sphingolipidoses
infantile Refsum disease
A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
infantile phytanic acid storage disease
peroxisomal disease
An inherited metabolic disorder that involves peroxisome malfunction.
peroxisomal disorder
X-linked hypophosphatemic rickets
A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
Hypophosphatemia, Vitamin D-Resistant Rickets
Vitamin D-Resistant Rickets, X-Linked
X-linked dominant hypophosphatemic rickets
X-linked hypophosphatemia
hypophosphatemic rickets X-linked dominant
rickets
A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
active rickets
2023 nomenclature update to white sponge nevus.
white sponge nevus
A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
hereditary mucosal leukokeratosis
white sponge nevus of Cannon
pachyonychia congenita
A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
Jackson-Lawler Type Pachyonychia Congenita
Jadassohn-Lewandowsky Syndrome
PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
Pachyonychia Congenita Type 1
Gitelman syndrome
A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
renal tubular transport disease
inborn renal tubular transport disorder
Brugada syndrome
A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Bangungut
Brugada type idiopathic ventricular fibrillation
Dream disease
Pokkuri death syndrome
SUNDS
sudden unexplained nocturnal death syndrome
heart conduction disease
A cardiovascular system disease that involves the heart's electrical conduction system.
heart rhythm disease
mevalonic aciduria
A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
Mevalonate Kinase Deficiency
lissencephaly
A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
congenital nervous system abnormality
congenital neurologic anomaly
periventricular nodular heterotopia
A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
periventricular heterotopia
obsolete arachnodactyly
Buruli ulcer disease
A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
Bairnsdale ulcer
Daintree ulcer
Mossman ulcer
Searl ulcer
Searle's ulcer
Azoospermia is the absence of sperm in the ejaculate, a major cause of male infertility, which may or may not be caused by Spermatogonial maturation arrest.
Sertoli cell-only syndrome
A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
DEL CASTILLO SYNDROME
Germinal Cell Aplasia
male infertility
juvenile myelomonocytic leukemia
A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
myelodysplastic/myeloproliferative neoplasm
A myeloid neoplasm that results_in the overproduction of white blood cells.
Myeloproliferative/Myelodysplastic syndromes
myelodysplastic myeloproliferative cancer
myelodysplastic myeloproliferative disease
hyperphosphatemia
A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
OMIM mapping confirmed by DO. [LS].
Wolf-Hirschhorn syndrome
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
4p deletion syndrome
PITT SYNDROME
Pitt-Rogers-Danks Syndrome
chromosome 4p16.3 deletion syndrome
chromosomal deletion syndrome
A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
aspartylglucosaminuria
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
aspartylglucosaminidase deficiency
aspartylglycosaminuria
glycosylasparaginase deficiency
Antley-Bixler syndrome with disordered steroidogenesis
An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
trapezoidocephaly-synostosis syndrome
Antley-Bixler syndrome
A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.
Antley Bixler syndrome
Antley and Bixler's syndrome
campomelic dysplasia
An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
Acampomelic Campomelic Dysplasia
osteochondrodysplasia
A bone development disease that results_in defective development of cartilage or bone.
Cartilage Development disorder
Congenital anomaly of cartilage
Osteochondrodysplasia syndrome
chondrodystrophy
skeletal dysplasia
Farber lipogranulomatosis
A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
Farber disease
N-laurylsphingosine deacylase deficiency
acid ceramidase deficiency
lipid storage disease
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
Lipoid storage diseas
inborn lipid storage disorder
lipoidosis
Muir-Torre syndrome
A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
Lynch syndrome
A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
HNPCC
Hereditary Defective Mismatch Repair syndrome
Hereditary non-polyposis colon cancer
Hereditary non-polyposis colon cancer syndrome
Hereditary non-polyposis colorectal cancer
Hereditary non-polyposis colorectal cancer syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colon cancer syndrome
Hereditary nonpolyposis colorectal cancer syndrome
hereditary nonpolyposis colorectal cancer
hereditary nonpolyposis colorectal neoplasm
Loeys-Dietz syndrome
A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
erythrokeratodermia variabilis
A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
Erythrokeratodermia Figurata Variabilis
Greither Disease
yellow nail syndrome
A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
nail disease
An integumentary system disease that is located_in nail.
Costello syndrome
A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
FCS SYNDROME
Faciocutaneoskeletal Syndrome
RASopathy
A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
RAS/mitogen-activated protein kinase syndrome
Donohue syndrome
A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
Leprechaunism
Carney complex
A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
Carney Complex, Type 1
Carney Complex, Type 2
Carney Syndrome
Carney complex variant
LAMB Syndrome
NAME Syndrome
monilethrix
A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
Alstrom syndrome
A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
Netherton syndrome
A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.
Weill-Marchesani syndrome
A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
GEMSS syndrome
Marchesani-Weill Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
congenital mesodermal dystrophy
Barth syndrome
A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
3-methylglutaconicaciduria type 2
3-methylglutaconicaciduria type II
MGA Type 2
MGA type II
3-methylglutaconic aciduria
An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
X-linked recessive disease
A X-linked monogenic disease that has_material_basis_in recessive inheritance.
Liddle syndrome
A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
Liddle's syndrome
Pseudoaldosteronism
obsolete primary Escherichia coli infectious disease
obsolete commensal Klebsiella infectious disease
Klebsiella infection
epidemic typhus
A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium.
sylvatic typhus
typhus
A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
Endemic Typhus fever
Exanthematic Typhus fever
Flea typhus
Louse-borne [epidemic] typhus
Moscow typhus
Murine [endemic] typhus
Typhus fever
endemic flea-borne typhus
epidemic louse-borne typhus
Shop typhus
Classical typhus
Epidemic (louse-borne) typhus
Epidemic louse-borne typhus fever due to Rickettsia prowazekii
European typhus
Exanthematous typhus
Famine fever
Flea-borne rickettsiosis
Flea-borne typhus
Hospital fever
Jail fever
Louse-borne rickettsiosis
Louse-borne typhus
Mexican typhus
Murine typhus
Petechial fever
Prison fever
Rat flea typhus
Ship fever
Typhus exanthematique
Urban typhus
endemic typhus
A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.
Rat-Flea Typhus
Rickettsia felis spotted fever
Urban Typhus of Malaya
cat flea rickettsiosis
fleaborne typhus
murine typhus
toulon typhus
urban typhus
obsolete lymphangitis-associated rickettsiosis
obsolete Rickettsia aeschlimannii spotted fever
aneruptive fever
A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
Rickettsia helvetica spotted fever
sennetsu fever
A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
Sennetsu ehrlichiosis
exanthem
A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
bacterial exanthem
An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin.
early congenital syphilis
A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
congenital syphilis
A syphilis that results_in a multisystem infection in the fetus via the placenta.
OMIM mapping submitted by NeuroDevNet. [LS].
intellectual disability
A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
mental retardation
choroiditis
multinodular goiter
A goiter characterized by a multinodular enlargement of the thyroid gland.
goiter
A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
goitre
parenchymatous neurosyphilis
A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
tertiary neurosyphilis
A tertiary syphilis that results in infection located in brain or located in spinal cord.
late neurosyphilis
meningovascular neurosyphilis
A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
muscular atrophy
Amyotrophia
Muscle wasting
Wasting - muscle
obsolete tertiary syphilitic encephalitis
obsolete tertiary syphilitic meningitis
obsolete Papillomaviridae infectious disease
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses.
exanthema subitum
A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
Roseola Infantum
Sixth Disease
exanthem subitum
obsolete Banna virus encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache.
obsolete Anelloviridae infectious disease
A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.
obsolete dsDNA virus infectious disease
A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.
double stranded DNA virus infectious disease
dsDNA virus infection
obsolete ssDNA virus infectious disease
A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.
single stranded DNA virus infectious disease
ssDNA virus infection
obsolete dsDNA-RT virus infectious disease
A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase.
double stranded DNA reverse transcribing virus infectious disease
double stranded DNA-reverse transcribing virus infection
dsDNA-RT virus infection
obsolete dsRNA virus infectious disease
A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.
double stranded RNA virus infectious disease
dsRNA virus infection
obsolete (+)ssRNA virus infectious disease
A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes.
(+)ssRNA virus infection
Positive Stranded ssRNA Virus infectious disease
positive-sense single stranded RNA virus infectious disease
positive-sense ssRNA virus infection
positive-sense ssRNA virus infectious disease
obsolete (-)ssRNA virus infectious disease
A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes.
(-)ssRNA virus infection
Negative Stranded ssRNA Virus infectious disease
negative-sense single stranded RNA virus infectious disease
negative-sense ssRNA virus infection
negative-sense ssRNA virus infectious disease
obsolete ssRNA-RT virus infectious disease
A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase.
single stranded RNA reverse transcribing virus infectious disease
ssRNA-RT virus infection
obsolete human papilloma virus related anal squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus.
obsolete human papilloma virus related vaginal squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina.
obsolete AIDS-related cryptosporidiosis
variola major
A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions.
ordinary smallpox
smallpox
A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.
obsolete AIDS-related toxoplasmosis
obsolete AIDS-related cystoisosporiasis
AIDS-related isosporiasis
obsolete Human torovirus gastroenteritis
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea.
obsolete Saffold virus gastroenteritis
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting.
spinal polio
A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs.
paralytic poliomyelitis
A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.
bulbospinal polio
A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs.
poliomyelitis
A viral infectious disease that results in destruction located in motor neurons and has_material_basis_in Human poliovirus 1, 2, or 3, serotypes of Enterovirus coxsackiepol, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis.
o’nyong-nyong is a phrase that originated among the Acholi tribe of Uganda. It is not a proper noun and in the earliest report (1960, https://doi.org/10.1016/0035-9203(60)90025-0) was not capitalized. However, most authors have, even since those early days, capitalized the word(s). The label for this disease follows this converntion and is also capitalized.
O'nyong-nyong fever
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus (Alphavirus onyong), which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
O'nyong nyong fever
O'nyong'nyong fever
Barmah Forest virus disease
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
Ross River fever
A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
Ross River virus disease
obsolete Lymphocytic choriomeningitis virus meningitis
A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck.
obsolete Lymphocytic choriomeningitis virus meningoencephalitis
A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
Oropouche fever
A viral infectious disease that results in infection, has_material_basis_in Oropouche virus (Orthobunyavirus oropoucheense), which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting.
Balkan hemorrhagic fever
A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus (Orthohantavirus dobravaense), which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
adult T-cell leukemia/lymphoma
A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
ATLL
Adult T-cell leukemia/lymphoma (HTLV-1 positive)
adult T-cell leukemia
T-cell acute lymphoblastic leukemia
An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.
Precursor T Lymphoblastic Leukemia
T Acute Lymphoblastic Leukemia
T-cell acute lymphocytic leukaemia
T-cell leukemia
T-cell lymphoblastic leukemia/lymphoma
acute T cell leukemia
precursor T-lymphoblastic lymphoma/leukemia
maturity-onset diabetes of the young
A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
MODY
Mason-type diabetes
diabetes mellitus
A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
diabetes
obsolete acroosteolysis
acro-osteolysis
Acroosteolysis syndrome
Gamstorp-Wohlfart syndrome
A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
autosomal recessive neuromyotonia and axonal neuropathy
myokymia, myotonia and muscle wasting
obsolete familial hypertriglyceridemia
nonphotosensitive trichothiodystrophy 4
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
AMISH BRITTLE HAIR BRAIN SYNDROME
BIDS syndrome
HAIR-BRAIN SYNDROME
TTD4
nonphotosensitive trichothiodystrophy
A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.
adult spinal muscular atrophy
A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
SMA4
SPINAL MUSCULAR ATROPHY, ADULT FORM
SPINAL MUSCULAR ATROPHY, TYPE IV
spinal muscular atrophy 4
spinal muscular atrophy
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
intermediate spinal muscular atrophy
A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
SMA II
SMA2
spinal muscular atrophy 2
spinal muscular atrophy type II
childhood spinal muscular atrophy
A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.
spinal muscular atrophies of childhood
survival motor neuron spinal muscular atrophy
obsolete lentiginosis profusa
LENTIGINOSIS, DIFFUSE
LENTIGINOSIS, GENERALIZED
LENTIGINOSIS, INHERITED PATTERNED
obsolete epidermal nevus
NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
PIGMENTED MOLES
obsolete soldiers heart
congenital stationary night blindness
A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
congenital essential nyctalopia
hereditary night blindness
Congenital night blindness
exudative vitreoretinopathy
A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
FEVR
familial exudative vitreoretinopathy
retinal vascular disease
retina circulation disorder
GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS]
obsolete SC phocomelia syndrome
A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene.
Hypomelia Hypotrichosis Facial hemangioma syndrome
SC PSEUDOTHALIDOMIDE SYNDROME
posterior polar cataract
A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.
CATARACT, POSTERIOR POLAR
cataract
A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
Charcot-Marie-Tooth disease type 1
A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
hereditary motor and sensory neuropathy type 1
Charcot-Marie-Tooth disease
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
CMT - Charcot-Marie-Tooth disease
See MIM:604484 Okinawa type is CMT type 2.
Charcot-Marie-Tooth disease type 2
A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
hereditary motor and sensory neuropathy Guadalajara neuronal type
hereditary motor and sensory neuropathy Okinawa type
hereditary motor and sensory neuropathy type 2
Charcot-Marie-Tooth disease type 3
A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
DEJERINE-SOTTAS NEUROPATHY
DEJERINE-SOTTAS SYNDROME
Charcot-Marie-Tooth disease type 4
A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
hereditary motor and sensory neuropathy
Charcot-Marie-Tooth disease type X
A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
Charcot-Marie-Tooth disease intermediate type
A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
Charcot-Marie-Tooth disease dominant intermediate
Charcot-Marie-Tooth disease recessive intermediate
hypermethioninemia
An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
amino acid metabolic disorder
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
inborn errors of amino acid metabolism
visceral heterotaxy
A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
heterotaxia
situs ambiguus
congenital adrenal insufficiency
An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
Adrenal insufficiency, congenital, with 46,XY sex reversal
P450scc DEFICIENCY
adrenal gland disease
An endocrine system disease that is located_in the adrenal gland.
familial medullary thyroid carcinoma
A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.
THYROID CARCINOMA, FAMILIAL MEDULLARY
medullary thyroid carcinoma
A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
Medullary carcinoma of the Thyroid gland
Parafollicular cell carcinoma
Ultimobranchial thyroid tumor
Ultimobranchial thyroid tumour
thyroid gland medullary carcinoma
hereditary sensory and autonomic neuropathy
A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom.
HSAN
HSN
hereditary sensory neuropathy
neuropathy
A nervous system disease that is located_in nerves or nerve cells.
peripheral neuropathy
obsolete Saldino-Noonan syndrome
A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase.
asphyxiating thoracic dystrophy 3
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
ATD3
SRPS1
SRPS2B
SRPS3
SRTD3
Saldino-Noonan syndrome
Verma-Naumoff syndrome
polydactyly with neonatal chondrodystrophy, type I
polydactyly with neonatal chondrodystrophy, type III
short rib-polydactyly syndrome, type I
short rib-polydactyly syndrome, type IIB
short-rib thoracic dysplasia 3 with or without polydactyly
obsolete Majewski syndrome
type II short rib-polydactyly syndrome
obsolete Verma-Naumoff syndrome
type III short rib-polydactyly syndrome
proteasome-associated autoinflammatory syndrome 1
A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21.
CANDLE
JMP syndrome
JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
NKJO
Nakajo-Nishimura syndrome
PRAAS1
chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
proteosome-associated autoinflammatory syndrome
An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications.
digenic disease
A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.
X-linked sideroblastic anemia with ataxia
A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
Anemia sideroblastic and spinocerebellar ataxia
Anemia, sideroblastic, spinocerebellar ataxia
X-linked sideroblastic anaemia and ataxia
X-linked sideroblastic anaemia with ataxia
X-linked sideroblastic anemia and ataxia
sideroblastic anemia
A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
ANEMIA SIDEROBLASTIC
Anemia, hypochromic with iron loading
obsolete infantile onset spinocerebellar ataxia
An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function.
congenital muscular dystrophy
A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
muscular dystrophy
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
Ullrich congenital muscular dystrophy
A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.
ULLRICH DISEASE
Ullrich scleroatonic muscular dystrophy
Fukuyama congenital muscular dystrophy
A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
congenital muscular dystrophy-dystroglycanopathy type A
A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.
MDDGA
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
klissencephaly type 2 with muscular and ocular involvement
Walker-Warburg syndrome
A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.
HARD syndrome
cerebroocular dysplasia-muscular dystrophy syndrome
Lennox-Gastaut syndrome
A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
Lennox syndrome
JA:Epilepsy Genetics Kiel
childhood electroclinical syndrome
An electroclinical syndrome with onset in childhood between one and 12 years of age.
West syndrome
An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
Infantile spasms syndrome
infancy electroclinical syndrome
An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
nonsyndromic deafness
An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
nonsyndromic hearing loss
nonsyndromic hereditary hearing loss
auditory system disease
A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
ear and mastoid disease
autosomal dominant nonsyndromic deafness
A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
autosomal dominant deafness
MIM:607197 is an older phenotype record for this disease.
autosomal recessive nonsyndromic deafness
A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
X-linked nonsyndromic deafness
A nonsyndromic deafness characterized by an X-linked inheritance mode.
X-linked deafness
X-linked monogenic disease
A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
orofacial cleft
A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
spondylocostal dysostosis
A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
Jarcho-Levin syndrome
costovertebral dysplasia
spondylothoracic dysostosis
spondylothoracic dysplasia
spinal disease
A bone disease that is located_in the spine.
dysostosis
A bone development disease that results in defective ossification of bone.
Seckel syndrome
A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
Harper's syndrome
Virchow-Seckel dwarfism
bird-headed dwarfism
microcephalic primordial dwarfism
congenital disorder of glycosylation type I
A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
congenital disorder of glycosylation
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
carbohydrate-deficient glycoprotein syndrome
congenital disorder of glycosylation type II
A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
cone-rod dystrophy
A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
cone-rod retinal dystrophy
retinal degeneration
A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
degeneration of retina
2-hydroxyglutaric aciduria
An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
L-2-hydroxyglutaric aciduria
An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
L-2-HYDROXYGLUTARIC ACIDEMIA
cerebellar disease
A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome.
D-2-hydroxyglutaric aciduria
An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
Senior-Loken syndrome
A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
Loken Senior syndrome
renal-retinal syndrome
cranioectodermal dysplasia
A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
Levin syndrome
Sensenbrenner syndrome
occult macular dystrophy
A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
macular degeneration
A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
Macular degeneration of retina
glycogen storage disease XV
A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
Glycogen storage disease 15
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
glycogen storage disease type XV
glycogen storage disease
A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
glycogenosis
glycogenoses
hereditary lymphedema
A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
lymphedema
A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.
Lymphatic edema
Lymphoedema
brachydactyly
A dysostosis characterized by short fingers and toes.
obsolete Chlamydophila pneumoniae infectious disease
gummatous syphilis
A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
tertiary syphilis
A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems.
late syphilis
congenital generalized lipodystrophy
A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
complete generalized lipodystrophy
A lipodystrophy that is characterized by complete loss of adipose tissue.
trichotillomania
An impulse control disorder that involves the uncontrollable plucking of ones hair.
impulse control disorder
A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
muscular dystrophy-dystroglycanopathy type B1
A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
CMD due to dystroglycanopathy
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
muscular dystrophy-dystroglycanopathy type B
A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.
MDDGB
inflammatory bowel disease
An intestinal disease characterized by inflammation located in all parts of digestive tract.
severe congenital neutropenia
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
neutropenia
tooth agenesis
A tooth disease characterized by failure to develop one or more missing teeth.
familial tooth agenesis
hypodontia
oligodontia
selective tooth agenesis
tooth disease
A mouth disease located_in the teeth.
teeth disease
asphyxiating thoracic dystrophy
A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Jeune syndrome
short-rib thoracic dysplasia with or without polydactyly
thoracic pelvic phalangeal dystrophy
bone development disease
A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
primary congenital glaucoma
A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.
glaucoma
An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
glycogen storage disease IX
A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.
Glycogen storage disease 9
taeniasis
A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat.
Beef tapeworm infection
Infection by Taeniarhynchus saginatus
Taenia saginata infectious disease
intestinal schistosomiasis
A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
Katayama fever
Schistosoma japonicum infection
Schistosoma mansoni infectious disease
schistosomiasis japonica
schistosomiasis
A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
extrapulmonary tuberculosis
A tuberculosis that occurs at body sites other than the lung.
tuberculosis
A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
abdominal tuberculosis
An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
ABCD syndrome
A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
ABCDS
albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
ADULT syndrome
A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
acro-dermato-ungual-lacrimal-tooth syndrome
triple-A syndrome
A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.
AAAS
Achalasia-Addisonianism-Alacrimia syndrome
Allgrove Syndrome
acheiropody
An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
Acheiropodia
Horn-Kolb Syndrome
acrocapitofemoral dysplasia
An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35.
acrodermatitis enteropathica
A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency.
metal metabolism disorder
An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
inborn metal metabolism disorder
acrokeratosis verruciformis
A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
Acrokeratosis verruciformis of Hopf
Hopf disease
keratosis
A skin disease characterized_by growth of keratin on the skin or mucous membranes.
Askin's tumor
An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.
Askin tumor
Askin tumour
Askin's tumour
Ewing sarcoma
A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
Ewing's family localized tumor
Ewing's sarcoma/peripheral primitive neuroectodermal tumor
Ewing's tumor
Ewings sarcoma
Ewings sarcoma-primitive neuroectodermal tumor
PNET of Thoracopulmonary Region
localized Ewing sarcoma
localized Ewing's sarcoma
localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
localized Ewing's tumor
localized peripheral primitive neuroectodermal tumor
peripheral primitive neuroectodermal tumor
oral cavity carcinoma in situ
An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma.
in situ carcinoma
A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
pharynx carcinoma in situ
An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma.
gallbladder carcinoma in situ
An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.
gallbladder disease
A gastrointestinal system disease that is located_in the gallbladder.
bile duct carcinoma in situ
An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.
bile duct disease
A biliary tract disease located_in one or more bile ducts.
bile duct disorder
disorder of bile duct
bronchus carcinoma in situ
An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.
bronchial disease
A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
respiratory system cancer
An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
Updating out dated UMLS CUI.
cancer
A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
malignant neoplasm
malignant tumor
primary cancer
organ system cancer
A cancer that is classified based on the organ it starts in.
obsolete malignant Leydig cell tumor
obsolete malignant Sertoli cell tumor
obsolete malignant Sertoli-Leydig cell tumor
paranasal sinus cancer
A respiratory system cancer that is located_in the paranasal sinuses.
Mucoepidermoid carcinoma of Accessory sinus
adenoid cystic carcinoma of Accessory sinus
carcinoma of accessory sinus
carcinoma of paranasal sinus
paranasal sinus adenocarcinoma
paranasal sinus adenoid cystic carcinoma
paranasal sinus mucoepidermoid carcinoma
adenoid cystic carcinoma of paranasal sinus
infiltrating renal pelvis transitional cell carcinoma
A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.
renal pelvis transitional cell carcinoma
Urothelial cell carcinoma of renal Pelvis
respiratory system benign neoplasm
An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.
benign neoplasm
A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
organ system benign neoplasm
A benign neoplasm that is classified by the organ system from which it is arising from.
reproductive organ benign neoplasm
An organ system benign neoplasm that is located_in reproductive system organs.
reproductive system disease
A disease of anatomical entity that is located_in reproductive system organs.
genital system disease
bladder benign neoplasm
A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.
bladder disease
A urinary system disease that is located_in the bladder.
Urinary Bladder Disease
urinary system benign neoplasm
An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
neoplasm of urinary system
tumor of the urinary system
tumor of urinary tract
urinary tract neoplasm
gastrointestinal system benign neoplasm
An organ system benign neoplasm located_in gastrointestinal tract organs.
gastrointestinal system disease
A disease of anatomical entity that is located_in the gastrointestinal tract.
GIT disease
Gastroenteropathy
alimentary system disease
digestive system disorder
gastrointestinal disease
gastrointestinal disorder
biliary tract benign neoplasm
A hepatobiliary benign neoplasm located_in the biliary tract.
extrahepatic bile duct neoplasm
neoplasm of extrahepatic bile ducts
tumor of the extrahepatic bile duct
hepatobiliary benign neoplasm
A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
hepatobiliary tumors
biliary tract disease
A hepatobiliary disease that is located_in the biliary tract.
gastrointestinal neuroendocrine tumor
A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
gastrointestinal neuroendocrine tumour
malignant gastrointestinal neuroendocrine tumor
malignant gastrointestinal neuroendocrine tumour
gastrointestinal system cancer
An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
GI tumor
digestive system cancer
gastrointestinal tract cancer
advanced sleep phase syndrome
A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
familial advanced sleep-phase syndrome
sleep disorder
A disease of mental health that involves disruption of sleep patterns.
Non-organic sleep disorder
Aicardi-Goutieres syndrome
A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
AGS
Cree encephalitis
Aland Island eye disease
An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
Forsius-Eriksson syndrome
Allan-Herndon-Dudley syndrome
A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13.
AHDS
ALLAN-HERNDON SYNDROME
oculocutaneous albinism
A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
ocular albinism 1
An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.
Albinism ocular 1
ocular albinism
alopecia universalis
An alopecia characterized by the complete loss of hair on the scalp and body.
ALOPECIA UNIVERSALIS CONGENITA
alopecia
A hypotrichosis that is characterized by a loss of hair from the head or body.
alternating hemiplegia of childhood
A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
AHC
hemiplegia
A central nervous system disease that is characterized by the complete paralysis of half of the body.
Infantile hemiplegia
Postnatal infantile hemiplegia
hereditary systemic amyloidosis 2
An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
AMYLOIDOSIS, FAMILIAL RENAL
German type amyloidosis
OSTERTAG TYPE AMYLOIDOSIS
familial visceral amyloidosis
systemic nonneuropathic amyloidosis
inherited metabolic disorder
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Inborn Errors of Metabolism
Metabolic hereditary disorder
inborn metabolism disorder
amyloidosis has both inherited and acquired subtypes [LS].
amyloidosis
A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
amyloid disease
Finnish type amyloidosis
An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.
AGel amyloidosis
AMYLOIDOSIS, MERETOJA TYPE
Lattice corneal dystrophy type II
gelsolin amyloidosis
primary cutaneous amyloidosis
An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
PCA
familial primary localized cutaneous amyloidosis
cutis laxa
A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
loose skin
lattice corneal dystrophy
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.
familial amyloid neuropathy, Finnish type
hereditary systemic amyloidosis 1
An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.
ATTR amyloidosis
ATTRm amyloidosis
Amyloidosis, hereditary, transthyretin-related
Corino de Andrade's disease
Familial transthyretin amyloidosis
TTR amyloidosis
familial amyloid polyneuropathy
paramyloidosis
transthyretin amyloidosis
transthyretin-related hereditary amyloidosis
anauxetic dysplasia 1
An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
spondylometaepiphyseal dysplasia, Menger type
anauxetic dysplasia
A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.
Rh deficiency syndrome
A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12.
OMIM mapping by NeuroDevNet, 2024 revised to subtypes. [LS].
hemolytic anemia
A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
ANEMIA HEMOLYTIC
hypochromic microcytic anemia
A microcytic anemia characterized by paler than normal blood cells.
microcytic anemia
An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.
obsolete anonychia congenita
arterial calcification of infancy
A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
generalized arterial calcification of infancy
idiopathic infantile arterial calcification
infantile arteriosclerosis
artery disease
A vascular disease that is located_in an artery.
arterial tortuosity syndrome
A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
connective tissue disease
A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
connective tissue disorder
disorder of connective tissue
distal arthrogryposis
A muscle tissue disease characterized by congenital joint contractures of hand and feet.
Arthrogryposis Multiplex Congenita
muscle tissue disease
A muscular disease located in the muscle tissue.
Arts syndrome
An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
ARTS
Lethal ataxia with deafness and optic atrophy
MRXS18
MRXSARTS
fatal X-linked ataxia with deafness and loss of vision
syndromic X-linked mental retardation 18
syndromic X-linked mental retardation Arts type
NT MGI.
syndromic X-linked intellectual disability
A syndromic intellectual disability characterized by an X-linked inheritance pattern.
syndromic X-linked mental retardation
atelosteogenesis
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
atransferrinemia
A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.
familial hypotransferrinemia
familial atrial fibrillation
An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
ATFB
atrial fibrillation
A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
A-fib
AFib
atrioventricular septal defect
A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
AVCD
AVSD
ECD
atrioventricular canal defect
endocardial cushion defect
heart septal defect
Cardiac septal defects
Congenital septal defect of heart
septal defect
obsolete soft tissue cancer
obsolete dysplastic nevus
nevus of Clark
Baller-Gerold syndrome
A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
synostosis
A dysostosis that results_in abnormal fusing of adjacent bones.
Bamforth-Lazarus syndrome
A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
pseudo-TORCH syndrome 1
A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2.
BLC-PMG
BLCPMG
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
PTORCH1
band-like calcification with simplified gyration and polymicrogyria
bilateral band-like calcification with polymicrogyria
microcephaly-intracranial calcification-intellectual disability syndrome
Cowden syndrome 1
A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
PHTS
PTEN hamartoma tumor syndrome
PTEN hamartoma tumour syndrome
BRRS
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Zonana syndrome
Lhermitte-Duclos disease
Proteus-like syndrome
Riley-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome
SOLAMEN syndrome
dysplastic cerebellar gangliocytoma
dysplastic gangliocytoma of cerebellum
segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome
Cowden syndrome
A hamartoma syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
Cowden disease
multiple hamartoma syndrome
Bart-Pumphrey syndrome
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
biotin-responsive basal ganglia disease
A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.
biotin-thiamine-responsive basal ganglia disease
basal ganglia disease
A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits.
dystonia
A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
dystonic disease
Beare-Stevenson cutis gyrata syndrome
A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
vitelliform macular dystrophy
A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.
Best disease
Best macular dystrophy
juvenile-onset vitelliform macular dystrophy
bestrophinopathy
A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.
autosomal recessive bestrophinopathy
Bethlem myopathy
A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.
benign congenital muscular dystrophy
Bietti crystalline corneoretinal dystrophy
A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.
Bietti's crystalline dystrophy
fetal alcohol syndrome
A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
fetal alcohol spectrum disorder
A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
partial fetal alcohol syndrome
A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
alcohol-related neurodevelopmental disorder
A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
ARND
static encephalopathy
alcohol-related birth defects
A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
ARBD
spastic cerebral palsy
A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
cerebral palsy
A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
infantile cerebral palsy
ataxic cerebral palsy
A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
hypotonic cerebral palsy
female breast cancer
A breast cancer that develops from breast tissue in females.
breast cancer
An organ system cancer that originates in the mammary gland.
breast tumor
malignant neoplasm of breast
malignant tumor of the breast
mammary cancer
mammary tumor
primary breast cancer
mammary neoplasm
dyskinetic cerebral palsy
A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
Athetoid Dyskinetic Cerebral Palsy
mixed cerebral palsy
A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
congenital bile acid synthesis defect
A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
CBA
cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
steroid inherited metabolic disorder
A lipid metabolism disorder that involves defects in steroid metabolism.
Birk-Barel syndrome
A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
Birk-Barel mental retardation dysmorphism syndrome
Birt-Hogg-Dube syndrome
A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.
Bjornstad syndrome
A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
BJS
PTD
deafness-pili torti-hypogonadism syndrome
Blau syndrome
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
ARTHROCUTANEOUVEAL GRANULOMATOSIS
BLAUS
Jabs syndrome
blue cone monochromacy
An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster.
achromatopsia
A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
ACHM
Monochromatism
Boomerang dysplasia
An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.
Borjeson-Forssman-Lehmann syndrome
An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
BFLS
BORJ
Borjeson syndrome
MRXSBFL
intellectual deficiency-epilepsy-endocrine disorders syndrome
mental retardation, epilepsy, and endocrine disorder
syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Athabaskan brainstem dysgenesis syndrome
A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
NAVAJO BRAINSTEM SYNDROME
Bothnia retinal dystrophy
A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.
Vasterbotten dystrophy
fundus dystrophy
Retinal Dystrophy
Bowen-Conradi syndrome
A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.
BWCNS
Bowen Hutterite syndrome
Bowen-Conradi Hutterite syndrome
small cell carcinoma
A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
Small cell carcinoma - intermediate cell
Small cell carcinoma, intermediate cell
intermediate cell small cell carcinoma
carcinoma
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
epithelial cancer
epithelioma
malignant Epithelioma
cell type cancer
A cancer that is classified by the type of cell from which it is derived.
anal canal cancer
A large intestine cancer that is located_in the terminal part of the large intestine.
large intestine cancer
An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.
brachydactyly-syndactyly syndrome
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
brachyolmia
An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
brachyrachia
branchiooculofacial syndrome
A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
Brody myopathy
A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.
atrophic muscular disease
A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.
Brooke-Spiegler syndrome
A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
BRSS
BSS
CYLD cutaneous syndrome
SBS
Spiegler-Brooke Syndrome
Brown-Vialetto-Van Laere syndrome
A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.
malignant pleural solitary fibrous tumor
A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.
pleural cancer
A connective tissue cancer that located_in the pleura.
Pleural tumor
neoplasm of pleura
specific developmental disorder
A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
chorioamnionitis
A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
placenta disease
A uterine disease that is located_in the placenta.
funisitis
A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
Dent disease
A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
Dent's disease
X-linked hypercalciuric nephrocalcinosis
MESH:D009202 added from NeuroDevNet [WAK].
cardiomyopathy
A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
Cardiomyopathies
electroclinical syndrome
An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
electro-clinical syndrome
epilepsy
A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
epilepsy syndrome
epileptic syndrome
neonatal period electroclinical syndrome
An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
absence epilepsy
An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.
adolescence-adult electroclinical syndrome
An electroclinical syndrome with onset in adolescence and adulthood.
variable age at onset electroclinical syndrome
An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.
obsolete nonsyndromic epilepsy
early onset absence epilepsy
A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
early infantile epileptic encephalopathy
A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
Early Infantile Epileptic Encephalopathy with Burst-Suppression
3-methylcrotonyl-CoA carboxylase deficiency
An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
3-Methylcrotonylglycinuria
3MCC deficiency
BMCC deficiency
muscular disease
A musculoskeletal system disease that affects the muscles.
aceruloplasminemia
An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
iron metabolism disease
disorder of iron metabolism
iron disorder
AGAT deficiency
An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
Cerebral creatine deficiency syndrome 3
arginine glycine amidinotransferase deficiency
cerebral creatine deficiency syndrome
An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.
COX deficiency, infantile mitochondrial myopathy
A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
fatal infantile COX deficiency
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
fatal infantile cytochrome C oxidase deficiency
fatal infantile encephalocardiomyopathy
cytochrome-c oxidase deficiency disease
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
MITOCHONDRIAL COMPLEX IV DEFICIENCY
methylmalonic aciduria and homocystinuria type cblC
A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
Cobalamin C deficiency
MAHCC
methylmalonic acidemia
An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
methylmalonic aciduria
methylmalonic aciduria and homocystinuria type cblD
A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
Cobalamin D deficiency
MAHCD
methylmalonic aciduria and homocystinuria type cblF
A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
Cobalamin F deficiency
MAHCF
vitamin metabolic disorder
An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
cerebral folate receptor alpha deficiency
A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
Neurodegeneration due to cerebral folate transport deficiency
ornithine translocase deficiency
An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
HHH syndrome
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
serine deficiency
An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
PHGDH deficiency
A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
PSAT deficiency
A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
Phosphoserine aminotransferase deficiency
PSPH deficiency
A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
PSPHD
Phosphoserine phosphatase deficiency
tyrosinemia type II
A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
tyrosinemia
An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
tyrosinemia type I
A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
hepatorenal tyrosinemia
tyrosinemia type III
A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
glycogen metabolism disorder
A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
carbohydrate metabolic disorder
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
disorder of carbohydrate transport and metabolism
inborn carbohydrate metabolism disorder
inborn errors of carbohydrate metabolism
Chanarin-Dorfman syndrome
A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
neutral lipid storage disease
coenzyme Q10 deficiency disease
A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
COENZYME Q10 DEFICIENCY, PRIMARY
mitochondrial metabolism disease
An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
mitochondrial cytopathy
vitamin B12 deficiency
A vitamin metabolic disorder that results from low blood levels of vitamin B12.
cobalamin deficiency
hypocobalaminemia
methylmalonic aciduria and homocystinuria type cblE
A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.
methylmalonic aciduria and homocystinuria type cblG
A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.
congenital intrinsic factor deficiency
A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
hereditary intrinsic factor deficiency
Y-linked monogenic disease
A monogenic disease that has_material_basis_in mutations on the Y chromosome.
Qazi Markouizos syndrome
A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
Dysharmonic skeletal maturation - muscular fibre disproportion
Qazi-Markouizos syndrome
alcohol dependence
A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.
alcoholism
substance dependence
A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
nicotine dependence
A substance dependence that is characterized by a physical dependence on nicotine.
tobacco use disorder
mature T-cell and NK-cell lymphoma
A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
NK-T cell lymphoma
mature T-cell and natural killer cell lymphoma
T-cell non-Hodgkin lymphoma
A non-Hodgkin lymphoma of T-cell lineage.
anaplastic large cell lymphoma
A non-Hodgkin lymphoma involving aberrant T-cells.
non-Hodgkin lymphoma
A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
diffuse large B-cell lymphoma
A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.
DLBCL
large B-cell lymphoma
A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.
mantle cell lymphoma
A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
B-cell lymphoma
A non-Hodgkin lymphoma that has_material_basis_in B cells.
B-cell lymphocytic neoplasm
obsolete lymphoplasmacytic lymphoma
A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
marginal zone lymphoma
A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes.
marginal zone B-cell lymphoma
peripheral T-cell lymphoma
A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
splenic marginal zone lymphoma
A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
bone marrow cancer
A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
bone Marrow tumor
bone marrow neoplasm
malignant bone Marrow tumor
malignant neoplasm of bone marrow
spleen cancer
A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
Splenic neoplasm
malignant Splenic tumor
malignant tumour of spleen
spleen neoplasm
T-cell large granular lymphocyte leukemia
A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
Large granular lymphocytic leukaemia
Large granular lymphocytic leukemia
T-cell large granular lymphocyte leukaemia
amyotrophic lateral sclerosis type 8
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
ALS8
amyotrophic lateral sclerosis 8
amyotrophic lateral sclerosis
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
ALS
Lou Gehrig's disease
motor neuron disease, bulbar
cerebellar ataxia
A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
hereditary ataxia
A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
early-onset ataxia with oculomotor apraxia and hypoalbuminemia
An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.
ataxia with oculomotor apraxia type 1
autosomal recessive cerebellar ataxia
A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.
spinocerebellar ataxia with axonal neuropathy 2
An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.
AOA2
SCAN2
SCAR1
ataxia with oculomotor apraxia type 2
autosomal recessive spinocerebellar ataxia 1
autosomal recessive spinocerebellar ataxia with axonal neuropathy 2
spinocerebellar ataxia with axonal neuropathy type 2
obsolete CLN3 disease
deafness-dystonia-optic neuronopathy syndrome
A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
Deafness Dystonia Optic Atrophy Syndrome
Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome
Jensen syndrome
Mohr-Tranebjaerg syndrome
deafness dystonia syndrome
metabolic acidosis
An acquired metabolic disease that characterized by excessive production of acid.
myotonic dystrophy type 2
A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
myotonic disease
A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
X-linked myopathy with excessive autophagy
A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
XMEA
myopathy
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
obsolete paramyloidosis
adenylosuccinase lyase deficiency
An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.
ARC syndrome
A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
Arthrogryposis-renal dysfunction-cholestasis
Armfield syndrome
A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.
Armfield X-linked mental retardation syndrome
MRXSA
X-linked intellectual disability, Armfield type
mental retardation syndrome, X-linked, Armfield type
syndromic X-linked mental retardation Armfield type
neuroacanthocytosis
A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
neurodegenerative disease
A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
degenerative disease
choreaacanthocytosis
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
Levine-Critchley syndrome
choreo-acanthocytosis
midface dysplasia
An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.
mitochondrial complex V (ATP synthase) deficiency nuclear type 1
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
MC5DN1
mitochondrial complex V (ATP synthase) deficiency
A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.
N syndrome
A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
NSX
polycystic liver disease
A liver disease that is characterized by the presence of multiple cysts located_in the liver.
congenital cystic liver disease
congenital hepatic cyst
fibrocystic liver disease
pheochromocytoma
An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.
phaeochromocytoma
endocrine organ benign neoplasm
An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
spastic ataxia 1
A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.
spastic ataxia
A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
paraganglioma
A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
chemodectoma
glomus body tumor
rapadilino syndrome
A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
schneckenbecken dysplasia
An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
non-syndromic X-linked intellectual disability
A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
non-specific X-linked mental retardation
non-syndromic intellectual disability
An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
Joubert syndrome
A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
JBTS
ciliopathy
A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
Meckel syndrome
A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Meckel-Gruber syndrome
hydrolethalus syndrome
A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Salonen-Herva-Norio syndrome
obsolete Opitz-GBBB syndrome
A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.
Ogden syndrome
A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.
N-alpha-acetyltransferase
N-terminal acetyltransferase deficiency
OGDNS
X-linked Malformation and Infantile Lethality Syndrome
Zollinger-Ellison syndrome
A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
secondary progressive multiple sclerosis
A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.
SPMS
Secondary-progressive MS
multiple sclerosis
A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
Generalized multiple sclerosis
insular sclerosis
primary progressive multiple sclerosis
A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
PPMS
Primary-progressive MS
progressive relapsing multiple sclerosis
A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
PRMS
Progressive-relapsing MS
Xref MGI. claudiasbj: reason for this disease being obsolete detailed on: https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1566
obsolete iridogoniodysgenesis syndrome
An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
IGDS
IRID 1
IRID 2
iridogoniodysgenesis type 1
iridogoniodysgenesis type 2
anterior segment dysgenesis
An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.
anterior segment developmental anomaly
corneal opacification and other ocular anomalies
iridogoniodysgenesis syndrome
sclerocornea with other ocular anomalies
juvenile polyposis syndrome
A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
proximal symphalangism
A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
Cushing's symphalangism
bone disease
A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
skeletal disease
tarsal-carpal coalition syndrome
A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
fibular hypoplasia and complex brachydactyly
An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.
Du Pan syndrome
acromesomelic dysplasia-2B
acromesomelic dysplasia
An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism.
persistent Mullerian duct syndrome
A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
persistent Muellerian duct syndrome
pseudohermaphroditism
Indeterminate sex and pseudohermaphroditism
multiple cutaneous and mucosal venous malformations
A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21.
VMCM
cutaneomucosal venous malformation
mucocutaneous venous malformations
vein disease
A vascular disease that is located_in a vein.
short QT syndrome
A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
multiple synostoses syndrome
A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.
cone dystrophy
A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
retinal cone dystrophy
achalasia microcephaly syndrome
A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
ACHALASIA-MICROCEPHALY SYNDROME
Achalasia microcephaly
microcephaly
A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
Microcephalus
microencephaly
achalasia
An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
Lack of reflex relaxation of lower oesophageal sphincter
achalasia of cardia
achalasia of esophagus
cardiospasm
esophageal achalasia
hypertensive lower esophageal sphincter
peroxisomal acyl-CoA oxidase deficiency
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Peroxisomal acyl-coenzyme A oxidase
guanidinoacetate methyltransferase deficiency
A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.
Cerebral creatine deficiency syndrome 2
GAMT deficiency
cerebral creatine deficiency syndrome 1
A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.
CEREBRAL CREATINE DEFICIENCY SYNDROME 1
SLC6A8 deficiency
creatine transporter deficiency
androgenic alopecia
An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.
alopecia androgenetica, male pattern baldness
androgenetic alopecia
Ehlers-Danlos syndrome spondylodysplastic type 2
An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
Ehlers-Danlos syndrome progeroid type
XGPT deficiency
defective biosynthesis of proteodermatan sulfate
xylosylprotein 4-beta-galactosyltransferase deficiency
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].
Ehlers-Danlos syndrome
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Cutis hyperelastica
elastic skin
glioblastoma classical subtype
A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
glioblastoma
A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
GBM
adult glioblastoma multiforme
glioblastoma multiforme
grade IV adult Astrocytic tumor
primary glioblastoma multiforme
spongioblastoma multiforme
glioblastoma proneural subtype
A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
glioblastoma mesenchymal subtype
A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
glioblastoma neural subtype
A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
Kahrizi syndrome
A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
KHRZ
intellectual disability, Kahrizi type
intellectual disability-cataract-coloboma-kyphosis syndrome
mucopolysaccharidosis IX
A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
mucopolysaccharidosis
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
biotin deficiency
A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.
B7 deficiency
congenital adrenal hyperplasia
A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.
adrenal hyperplasia 1
congenital lipoid adrenal hyperplasia
lipoid CAH
spondyloepimetaphyseal dysplasia, Pakistani type
A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
spondyloepimetaphyseal dysplasia Pakistani type
spondyloepimetaphyseal dysplasia
An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
spondyloepiphyseal dysplasia with congenital joint dislocations
A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
CHST3-Related Skeletal Dysplasia
Humero-spinal dysostosis with congenital heart disease
Kozlowski Celermajer Tink syndrome
Omani Type
Spondyloepiphyseal Dysplasia
humero-spinal dysostosis
humerospinal dysostosis
spondyloepiphyseal dysplasia
An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
SED
temtamy preaxial brachydactyly syndrome
A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
obsolete eye adnexa disease
An eye and adnexa disease that is located_in the adnexa of the eye.
urofacial syndrome
A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
Ochoa syndrome
hydronephrosis with peculiar facial expression
Stargardt disease
An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
STARGARDT DISEASE 1
age related macular degeneration
A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
Age Related Maculopathies
Age Related Maculopathy
Senile macular degeneration
Senile macular retinal degeneration
age-related macular degeneration
transcobalamin II deficiency
A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
TCN2 deficiency
obsolete Matthew-Wood syndrome
A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
atrioventricular block
A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
AV block
first-degree atrioventricular block
An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node.
second-degree atrioventricular block
An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node.
second-degree heart block
third-degree atrioventricular block
An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles.
complete AV block
sinoatrial node disease
A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
SA node
sinuatrial node
endocardium disease
A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
tricuspid valve disease
A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle.
RH. tricuspid valve disease
Rheumatic disease of tricuspid valve
Tricuspid disease
disease of tricuspid valve
rheumatic tricuspid valve disease
heart valve disease
A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
Valvular heart disease
rheumatic heart disease
A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.
rheumatic carditis
vascular disease
A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
vascular tissue disease
pericardium disease
A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
thoracic disease
A disease of anatomical entity that is located_in the thoracic cavity.
cardiovascular system disease
A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
disease of subdivision of hemolymphoid system
peripheral artery disease
An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
familial encephalopathy with neuroserpin inclusion bodies
A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
FENIB
pyrimidine metabolic disorder
An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
orotic aciduria
A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
CHARGE syndrome
A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
CHARGE association
MESH:C538001 added from NeuroDevNet [WAK].
generalized dystonia
A dystonia that affects most or all of the body.
familial dystonia
fragments of torsion dystonia
Dystonia 12
focal dystonia
A dystonia that is localized to a specific part of the body.
multifocal dystonia
A dystonia that involves two or more unrelated body parts.
segmental dystonia
A dystonia that affects two or more adjacent parts of the body.
anismus
A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.
cervical dystonia
A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
spasmodic torticollis
focal hand dystonia
A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
organic writer's cramp
oculogyric crisis
A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
oromandibular dystonia
A focal dystonia that is characterized by distortions of the mouth and tongue.
spasmodic dystonia
A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
laryngeal dystonia
cranio-facial dystonia
A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
hemidystonia
A multifocal dystonia that involves the arm and leg on the same side of the body.
sleep apnea
A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
obstructive sleep apnea
A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
obstructive sleep apnea syndrome
periampullary adenoma
An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.
ampulla of Vater benign neoplasm
A duodenal benign neoplasm that is located_in the ampulla of Vater.
tumor of the ampulla of Vater
adenoma
A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
acinar cell adenoma
acinic cell adenoma
adenomas
diabetic encephalopathy
A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.
glomerulosclerosis
A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
glomerulonephritis
A nephritis that causes inflammation of the glomeruli located_in kidney.
limb ischemia
An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.
ischemia
A vascular disease that is characterized by a restriction in blood supply to tissues.
chronic venous insufficiency
A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.
venous insufficiency
A vein disease that is characterized by impaired flow of blood through the veins.
peripheral venous insufficiency
Muckle-Wells syndrome
A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
MWS
neutrophilic urticaria
renal fibrosis
A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.
oppositional defiant disorder
A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents.
Perrault syndrome
A syndrome that is characterized by sensorineural hearing loss and ovarian failure.
Marshall-Smith syndrome
A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
hemorrhagic cystitis
A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract.
cystitis
A bladder disease that is characterized by inflammation of the bladder.
colorectal adenoma
An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.
intestinal benign neoplasm
A gastrointestinal system benign neoplasm that is located_in the intestine.
intestinal tumors
intestine growth
neoplasm of intestinal tract
colorectal adenocarcinoma
A colorectal carcinoma that derives_from epithelial cells of glandular origin.
colorectal carcinoma
A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.
adenocarcinoma
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
pyometritis
A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity.
uterine disease
A female reproductive system disease that is located_in the uterus.
arteritic anterior ischemic optic neuropathy
An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis.
anterior ischemic optic neuropathy
Ischemic optic neuropathy
non-arteritic anterior ischemic optic neuropathy
An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.
non-arteritic anterior ischaemic optic neuropathy
nonarteritic anterior ischaemic optic neuropathy
nonarteritic anterior ischemic optic neuropathy
tongue squamous cell carcinoma
A head and neck squamous cell carcinoma that is located_in the tongue.
head and neck squamous cell carcinoma
A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.
carcinoma of the head and neck
squamous cell carcinoma of the head and neck
squamous cell carcinomas of head and neck
tongue cancer
malignant neoplasm of tongue
oral squamous cell carcinoma
An oral cavity cancer that has_material_basis_in squamous cells.
mouth squamous cell carcinoma
squamous cell carcinoma
A carcinoma that derives_from squamous epithelial cells.
SCC
epidermoid carcinoma
malignant squamous cell tumor
squamous carcinoma
squamous cell Epithelioma
squamous cell cancer
oral cavity cancer
A gastrointestinal system cancer that is located_in the oral cavity.
malignant neoplasm of floor of mouth
obsolete Jensen syndrome
A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
opticoacoustic nerve atrophy with dementia
hepatocellular adenoma
A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
liver benign neoplasm
epithelial hepatic and intrahepatic bile duct neoplasm
villous adenoma
An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body.
pulmonary adenocarcinoma in situ
A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
bronchioalveolar carcinoma
lung carcinoma in situ
An in situ carcinoma that is located_in the lung.
fibroma
A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.
connective tissue benign neoplasm
A musculoskeletal system benign neoplasm that is located_in connective tissue.
mesenchymal tissue neoplasm
neoplasm of soft tissue
neoplasm of soft tissues
soft tissue benign neoplasm
tumor of the soft tissue
large cell neuroendocrine carcinoma
A lung large cell carcinoma that derives_from neuroendocrine cells.
lung large cell carcinoma
large cell carcinoma of lung
large cell lung carcinoma
follicular lymphoma
A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
BCL2 Apoptosis regulator
obsolete small cell neuroendocrine carcinoma of the lung
Caroli disease
A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
pancreatic agenesis
A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
Agenesis of the dorsal pancreas
partial pancreatic agenesis
obsolete CLONE OF congenital afibrinogenemia
Factor I deficiency
Fibrinogen deficiency
fragile X-associated tremor/ataxia syndrome
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
FXTAS syndrome
X-linked hereditary ataxia
A hereditary ataxia that is characterized by X-linked inheritance.
Koolen de Vries syndrome
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
17q21.31 microdeletion syndrome
KANSL1-related intellectual disability syndrome
KdVS
Koolen-De Vries syndrome
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein.
IBMPFD
inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
spinocerebellar ataxia 5
An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.
autosomal dominant cerebellar ataxia
A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
spinocerebellar ataxia
infantile cerebellar-retinal degeneration
A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
triosephosphate isomerase deficiency
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Triose phosphate-isomerase deficiency
glucose metabolism disease
A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
disorder of glucose metabolism
IMAGe syndrome
A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.
intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
Troyer syndrome
A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
SPG20
autosomal recessive spastic paraplegia 20
autosomal recessive spastic paraplegia Troyer type
autosomal recessive spastic paraplegia type 20
childhood-onset spastic paraparesis with distal muscle wasting
hereditary spastic paraplegia 20
spastic paraplegia 20
spastic paraplegia type 20
hereditary spastic paraplegia
A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
French settlement disease
Strumpell-Lorrain disease
familial spastic paraplegia
hereditary spastic paraparesis
Townes-Brocks syndrome
A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
syndromic intellectual disability
An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
synucleinopathy
A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
Synucleinopathies
alpha Synucleinopathies
adrenal cortical adenoma
An adrenal adenoma that is a benign tumor of the adrenal cortex.
adrenocortical adenoma
adrenal adenoma
An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.
adenoma of the Adrenal gland
adrenal gland pheochromocytoma
A malignant pheochromocytoma that is characterized by overproduction of adrenaline.
malignant pheochromocytoma
An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones.
Pheochromocytoma, malignant
gallbladder adenoma
A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
gallbladder benign neoplasm
A biliary tract benign neoplasm that is located_in the gallbladder.
ameloblastoma
A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
cell type benign neoplasm
A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
bone ameloblastoma
A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
bone benign neoplasm
A connective tissue benign neoplasm that is located_in bone.
bone squamous cell carcinoma
A bone carcinoma that derives_from squamous epithelial cells.
bone carcinoma
A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
bone chondrosarcoma
A chondrosarcoma that is located_in bone.
chondrosarcoma
A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
Cartilaginous cancer
chondrosarcoma of bone
primary chondrosarcoma of the bone
phalanx chondroma
A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
chondroma
A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
central Chondroma
brain stem medulloblastoma
A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
medulloblastoma
An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
CNS PNET
CPNET
Medulloblastoma, histologically defined
brain medulloblastoma
infratentorial primitive neuroectodermal tumor
localized primitive neuroectodermal tumor
brain stem cancer
malignant neoplasm of brain stem
malignant neoplasm of brainstem
neoplasm of adult brain stem
neoplasm of brain stem
primary brain Stem tumor
primary brain stem neoplasm
sacrum chordoma
A spinal chordoma that is located_in the sacrum.
spinal chordoma
A chordoma that derives_from the spine.
Chordoma of Spine
corpus callosum oligodendroglioma
A brain oligodendroglioma located_in the corpus callosum.
oligodendroglioma
oligodendroglial neoplasm
oligodendroglial tumor
brain oligodendroglioma
A brain glioma that has_material_basis_in oligodendrocytes.
Oligodendroglioma of brain
infratentorial cancer
A brain cancer that is located_in the infratentorial region.
brain neoplasm, Infratentorial
malignant Infratentorial tumors
parietal lobe ependymoma
A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
parietal lobe neoplasm
A cerebrum cancer that is located_in the parietal lobe.
malignant neoplasm of parietal lobe
tumor of Parietal Lobe
salivary gland carcinoma
A salivary gland cancer that has_material_basis_in epithelial cells.
salivary gland cancer
An oral cavity cancer that is located_in the salivary gland.
malignant neoplasm of salivary gland
inflammatory myofibroblastic tumor
A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
mesenchymal cell neoplasm
A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
benign miscellaneous mesenchymal tumor
mesenchymal tumor
conjunctival nevus
A sensory organ benign neoplasm that is located in the eye conjunctiva.
sensory organ benign neoplasm
A nervous system benign neoplasm that is located_in a sensory organ.
conjunctival disease
An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
mixed extragonadal germ cell cancer
A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
mixed germ cell cancer
A germ cell cancer that occurs in many forms.
mixed germ cell neoplasm
mixed germ cell tumor
mixed germ cell tumour
mixed teratoma and seminoma
myelodysplastic syndrome
A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
MALT lymphoma
MALT lymphoma of the dura
mucosa-associated lymphoid tissue lymphoma
cecum adenoma
A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
caecum adenoma
cecal benign neoplasm
An intestinal benign neoplasm that is located_in the cecum.
cecum neoplasm
neoplasm of caecum
appendix carcinoid tumor
An appendix cancer that has_material_basis_in neurodendocrine cells.
appendix carcinoid endocrine tumour
appendix cancer
A intestinal cancer that is located_in the appendix.
cancer of the appendix
malignant neoplasm of appendix vermiformis
malignant tumor of appendix
malignant tumor of the appendix
colon adenoma
A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
colonic benign neoplasm
An intestinal benign neoplasm that is located_in the colon.
Colonic Mass
Colonic tumor
colon neoplasm
neoplasm of colon
large intestine adenocarcinoma
A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
large intestine adenoma
An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
rectal adenoma
An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
rectum adenoma
rectal benign neoplasm
An intestinal benign neoplasm located_in the rectum.
Rectal tumor
neoplasm of rectum
rectum neoplasm
bronchus mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the bronchus.
mucoepidermoid carcinoma
A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.
MEC
lung combined type small cell adenocarcinoma
A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
lung combined type small cell carcinoma
A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells.
Combined small cell carcinoma of the lung
combined type small cell carcinoma of lung
vaginal carcinoma
A vaginal cancer that has_material_basis_in epithelial cells.
vaginal cancer
A female reproductive system cancer that is located_in the vagina.
malignant neoplasm of vagina
malignant tumor of vagina
malignant vaginal tumor
neoplasm of vagina
vagina neoplasm
vaginal tumor
trachea mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the trachea.
tracheal cancer
A respiratory system cancer that is located_in the trachea.
tonsil squamous cell carcinoma
A tonsil cancer that has_material_basis_in squamous cells.
tonsil cancer
malignant Tonsillar tumor
malignant neoplasm of faucial tonsil
malignant neoplasm of palatine tonsil
malignant neoplasm of tonsil, faucial
malignant tumor of tonsil
pharynx squamous cell carcinoma
A pharynx cancer that has_material_basis_in squamous cells.
pharynx cancer
A gastrointestinal system cancer that is located_in the pharynx.
pharyngeal neoplasm
pharynx neoplasm
pharyngeal cancer
gastrointestinal carcinoma
A gastrointestinal system cancer that has_material_basis_in epithelial cells.
spindle epithelial tumor with thymus-like differentiation tumor
A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
SETTLE tumor
SETTLE tumour
spindle epithelial tumour with thymus-like differentiation tumour
thyroid gland carcinoma
A thyroid gland cancer that has_material_basis_in epithelial cells.
Thyroid carcinoma
head and neck cancer, Thyroid
striated muscle rhabdoid tumor
A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
muscle cancer
A musculoskeletal system cancer that is located_in muscle.
malignant neoplasm of muscle
malignant tumor of muscle
malignant tumor of the Muscle
myosarcoma
small intestine carcinoid neuroendocrine tumor
A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.
intestinal carcinoid tumour
small intestine cancer
An intestinal cancer that is located_in the small intestine.
neuroendocrine tumor
An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
neuroendocrine neoplasm
jejunal adenocarcinoma
A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
jejunal cancer
malignant neoplasm of jejunum
malignant tumor of jejunum
duodenum adenoma
A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
duodenal benign neoplasm
neoplasm of duodenum
neoplasm of the duodenum
ovarian melanoma
An ovarian cancer that has_material_basis_in melanoctyes.
ovarian cancer
A female reproductive organ cancer that is located_in the ovary.
malignant Ovarian tumor
malignant tumour of ovary
ovarian neoplasm
ovary neoplasm
primary ovarian cancer
tumor of the Ovary
mucosal melanoma
A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
melanoma
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
Naevocarcinoma
malignant melanoma
sublingual gland adenoid cystic carcinoma
A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
sublingual gland cancer
A salivary gland cancer that is located_in the sublingual gland.
malignant tumor of sublingual gland
malignant tumor of the Sublingual gland
parotid gland adenoid cystic carcinoma
A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
parotid gland cancer
A salivary gland cancer that is located_in the parotid gland.
cancer of parotid gland
malignant neoplasm of the Parotid
malignant tumor of parotid gland
parotid cancer
lung mucoepidermoid carcinoma
A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells.
lung carcinoma
A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
cancer of lung
carcinoma of lung
ovarian serous carcinoma
An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
ovarian carcinoma
An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.
ovarian clear cell carcinoma
An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
clear-cell ovarian carcinoma
cervical neuroblastoma
An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
extracranial neuroblastoma
extra-adrenal pheochromocytoma
A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
retroperitoneal neuroblastoma
A retroperitoneal cancer that has_material_basis_in immature nerve cells.
retroperitoneal cancer
A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum.
malignant neoplasm of retroperitoneum and peritoneum
malignant tumor of peritoneum and retroperitoneum
neoplasm of retroperitoneum
neoplasm of the retroperitoneum
retroperitoneal neoplasm
tumor of retroperitoneum
malignant neoplasm of retroperitoneum
malignant retroperitoneal cancer
breast lobular carcinoma
A breast carcinoma that derives_from breast lobules (milk glands).
breast carcinoma
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Mammary carcinoma
carcinoma of breast
uterine corpus endometrial carcinoma
A uterine corpus cancer that is derives_from the inner lining of the uterus.
uterine corpus cancer
A uterine cancer that is located_in the uterine corpus.
corpus uteri cancer
endocervical adenocarcinoma
An endocervical carcinoma that derives_from epithelial cells of glandular origin.
endocervical carcinoma
A cervix carcinoma that is located_in the endocervix.
carcinoma of endocervix
carcinoma of the Endocervix
spastic ataxia 2
A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.
spastic ataxia 3
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
spastic ataxia 4
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.
spastic ataxia 5
A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.
spastic ataxia 7
A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.
Charlevoix-Saguenay spastic ataxia
An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.
hereditary hypophosphatemic rickets with hypercalciuria
A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
autosomal dominant hypophosphatemic rickets
A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
autosomal recessive hypophosphatemic rickets
A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
spinocerebellar ataxia 1
An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
spinocerebellar ataxia 2
An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.
spinocerebellar ataxia 6
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene.
spinocerebellar ataxia 4
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22.
SCA4
spinocerebellar ataxia 7
An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.
spinocerebellar ataxia 8
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene.
spinocerebellar ataxia 10
An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene.
spinocerebellar ataxia 11
An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene.
spinocerebellar ataxia 12
An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene.
spinocerebellar ataxia 13
An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene.
spinocerebellar ataxia 14
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
spinocerebellar ataxia 15
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.
spinocerebellar ataxia type 16
obsolete spinocerebellar ataxia type 16
An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene.
spinocerebellar ataxia 17
An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.
autosomal dominant cerebellar ataxia, deafness and narcolepsy
An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene.
spinocerebellar ataxia 18
An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23.
spinocerebellar ataxia 19/22
An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.
spinocerebellar ataxia 20
An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
spinocerebellar ataxia 21
An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.
spinocerebellar ataxia 23
An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene.
spinocerebellar ataxia 25
An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21.
spinocerebellar ataxia 26
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.
spinocerebellar ataxia 27A
An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome.
SCA27A
autosomal dominant congenital nystagmus 4
congenital nystagmus 4
spinocerebellar ataxia type 27
vestibulocerebellar disorder with predominant ocular signs
spinocerebellar ataxia 28
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.
spinocerebellar ataxia 29
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
spinocerebellar ataxia 30
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene.
spinocerebellar ataxia 31
An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene.
spinocerebellar ataxia 34
An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.
spinocerebellar ataxia 35
An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene.
spinocerebellar ataxia 36
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene.
spinocerebellar ataxia 37
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene.
spinocerebellar ataxia 38
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
spinocerebellar ataxia 40
An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
hypomyelinating leukoencephalopathy
An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.
GRID2-related spinocerebellar ataxia
An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.
episodic ataxia type 1
An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.
episodic ataxia
A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
Isaacs syndrome
episodic ataxia type 2
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
episodic ataxia type 3
An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance.
episodic ataxia type 4
An episodic ataxia that is characterized by vertigo and diplopia.
episodic ataxia type 5
An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene.
episodic ataxia type 6
An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.
episodic ataxia type 7
An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance.
episodic ataxia type 8
An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene.
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
CAMRQ
CAMRQ syndrome
DES
UTS
Uner Tan syndrome
cerebellar ataxia and mental retardation with or without quadrupedal locomotion
cerebellar ataxia, mental retardation, and disequilibrium syndrome
cerebellar ataxia, mental retardation, and dysequilibrium syndrome
disequilibrium syndrome
dysequilibrium syndrome
nonprogressive cerebellar ataxia with mental retardation
An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.
autosomal recessive spinocerebellar ataxia 10
An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene.
SCAR10
autoinflammatory disease
A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation.
primary immunodeficiency disease
An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
hypoimmunity
immune deficiency disorder
immunodeficiency syndrome
congenital dyserythropoietic anemia type IIIb
A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13.
congenital dyserythropoietic anemia
A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
congenital dyshaematopoietic anaemia
congenital dyserythropoietic anemia type IVb
A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
congenital nonspherocytic hemolytic anemia 1
A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia.
Xref MGI. OMIM mapping by NeuroDevNet. [LS].
congenital nonspherocytic hemolytic anemia
HNSHA
congenital nonspherocytic hemolytic anaemia
hereditary nonspherocytic hemolytic anaemia
hereditary nonspherocytic hemolytic anemia
congenital nonspherocytic hemolytic anemia 3
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34.
congenital nonspherocytic hemolytic anemia 4
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.
congenital nonspherocytic hemolytic anemia 5
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22.
congenital nonspherocytic hemolytic anemia 8
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.
congenital nonspherocytic hemolytic anemia 9
A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.
congenital nonspherocytic hemolytic anemia 10
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21.
Bryant-Li-Bhoj neurodevelopmental syndrome
An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities.
autosomal dominant intellectual developmental disorder
A intellectual disability characterized by an autosomal dominant inheritance pattern.
autosomal dominant mental retardation
autosomal dominant non-syndromic mental retardation
Bryant-Li-Bhoj neurodevelopmental syndrome 1
A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.
Bryant-Li-Bhoj neurodevelopmental syndrome 2
A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25.
PHP Ic appears to differ from PHP Ia (DOID:0080053) only in that patients retain erythrocyte Gs activity.
pseudohypoparathyroidism type 1C
A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.
PHP Ic
pseudohypoparathyroidism
A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.
PHP
atypical autosomal dominant adult-onset demyelinating leukodystrophy
An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging.
adult onset demyelinating leukodystrophy
A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.
Autosomal dominant leukodystrophy with autonomic disease
autosomal dominant adult-onset demyelinating leukodystrophy
leukodystrophy
A cerebral degeneration characterized by dysfunction of the white matter of the brain.
visceral heterotaxy 1
A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.
visceral heterotaxy 2
A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21.
visceral heterotaxy 3
A visceral heterotaxy that has been mapped to chromosome 6q21.
visceral heterotaxy 4
A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22.
visceral heterotaxy 6
A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21.
visceral heterotaxy 7
A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26.
visceral heterotaxy 8
A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12.
visceral heterotaxy 9
A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21.
visceral heterotaxy 10
A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13.
visceral heterotaxy 11
A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23.
visceral heterotaxy 12
A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11.
visceral heterotaxy 13
A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13.
HTX13
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis
A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.
mitochondrial DNA depletion syndrome-21
A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42.
mitochondrial DNA depletion syndrome
A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
mtDNA depletion syndrome
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.
NEDMISH
autosomal recessive intellectual developmental disorder
A intellectual disability characterized by an autosomal recessive inheritance pattern.
autosomal recessive mental retardation
autosomal recessive non-syndromic mental retardation
primary autosomal recessive microcephaly 20
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31.
autosomal recessive primary microcephaly
A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
MCPH
primary autosomal recessive microcephaly 21
A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13.
primary autosomal recessive microcephaly 22
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25.
primary autosomal recessive microcephaly 23
A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11.
primary autosomal recessive microcephaly 24
A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23.
primary autosomal recessive microcephaly 25
A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22.
autosomal dominant primary microcephaly 26
A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.
autosomal dominant primary microcephaly
A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation.
autosomal dominant primary microcephaly 27
A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.
primary autosomal recessive microcephaly 28
A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13.
primary autosomal recessive microcephaly 29
A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22.
primary autosomal recessive microcephaly 30
A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13.
autosomal dominant distal hereditary motor neuronopathy 15
An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
autosomal dominant distal hereditary motor neuronopathy
A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.
autosomal dominant dHMN
autosomal dominant distal hereditary motor neuropathy
autosomal dominant distal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2JJ
A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
axonal Charcot-Marie-Tooth disease type 2JJ
infantile-onset myofibrillar myopathy 12 with cardiomyopathy
A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23.
myofibrillar myopathy
A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.
myofibrillar myopathy 13 with rimmed vacuoles
A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24.
spondyloepimetaphyseal dysplasia, Li-Shao-Li type
A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23.
congenital disorder of glycosylation type IIbb
A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14.
congenital disorder of glycosylation type IIr
A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.
congenital disorder of glycosylation type IIt
A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41.
congenital disorder of glycosylation type IIv
A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25.
congenital disorder of glycosylation type IIw
A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.
congenital disorder of glycosylation type IIy
A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22.
congenital disorder of glycosylation type IIz
A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23.
coarctation of the aorta
A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.
congenital heart disease
A physical disorder that is characterized by problems with the heart's structure that are present at birth.
Congenital Heart Defects
Congenital anomaly of heart
Heart Malformation
congenital heart defect
heart defect
Heart-congenital defect
46,XY gonadal dysgenesis with minifascicular neuropathy
A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH).
gonadal dysgenesis
A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
Gonadal dysgenesis syndrome
immunodeficiency 113
A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.
avoidant/restrictive food intake disorder
An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss.
ARFID
eating disorder
A disease of mental health that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health.
acute calcific periarthritis
A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.
periarthritis
An arthritis that is characterized by inflammation of the tissues surrounding a joint. It is a common cause of joint pain and stiffness.
autosomal recessive Segawa syndrome
A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15.
autosomal recessive DOPA-responsive dystonia
frontotemporal dementia 1
A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21.
frontotemporal dementia
A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Wilhemsen-Lynch disease
frontotemporal lobar degeneration
multiple system tauopathy with presenile dementia
pallidopontonigral degeneration
stroke
A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.
cerebrovascular accident
cerebrovascular disease
An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
cerebrovascular disorder
ischemic stroke
A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain.
hemorrhagic stroke
A stroke that is characterized by sudden bleeding in the brain.
left ventricular failure
A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.
Left heart failure
left ventricular dysfunction
congestive heart failure
A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
CHF
Cardiac Failure Congestive
Congestive heart disease
Weak heart
chronic pancreatitis
A pancreatitis that is characterized by long-term inflamation of the pancreas.
pancreatitis
A pancreas disease that is characterized by inflammation of the pancreas.
arterionephrosclerosis
A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.
chronic kidney disease
A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).
CKD
CRF
chronic kidney failure
chronic renal disease
chronic renal failure syndrome
renal failure - chronic
Fontaine progeroid syndrome
A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36.
Gorlin-Chaudhry-Moss syndrome
Progeroid Syndrome, Congenital, Petty Type
progeroid syndrome
A syndrome that is characterized by the premature onset of age-related pathologies.
progeroid disease
progeroid syndromes
early-onset obesity, adrenal insufficiency, and red hair
A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23.
POMC deficiency
pro-opiomelanocortin deficiency
proopiomelanocortin deficiency syndrome
Meier-Gorlin syndrome 9
A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21.
Meier-Gorlin syndrome
A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.
ear-patella-short stature syndrome
Meier-Gorlin syndrome 10
A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22.
neurodevelopmental disorder with seizures and impaired intellectual and language development
An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23.
neurodegenerative disorder with cerebellar and caudate atrophy
An autosomal dominant intellectual developmental disorder that is characterized by neurodegenerative features, including progressive ataxia, cognitive decline, and neuropathy, and a distinctive neuroradiologic phenotype with cerebellar and caudate atrophy and basal ganglia signal abnormalities and that has_material_basis_in heterozygous complex chromosome 16p13.3 rearrangement comprising a duplication with an embedded triplication involving at least the ATP6V0C gene.
NDCCA
dilated cardiomyopathy 3C
A dilated cardiomyopathy that is characterized by severe arrhythmogenic dilated cardiomyopathy (DCM) with onset as young as the teen years but usually in the third to fifth decades of life and that has_material_basis_in mutation in the gene encoding emerin (EMD) on chromosome Xq28.
dilated cardiomyopathy
An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
primary dilated cardiomyopathy
Congestive cardiomyopathy
Familial dilated cardiomyopathy
Idiopathic dilation cardiomyopathy
primary autosomal recessive microcephaly 31
A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that has_material_basis_in homozygous mutation in the CDK4 gene on chromosome 12q14.
aggressive periodontitis 2
An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25.
aggressive periodontitis
A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
neurodevelopmental disorder with parkinsonism or other movement abnormalities
An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21.
NEDPAM
diethylstilbestrol syndrome
A reproductive system disease that is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women, in offspring or grandchildren of women exposed to diethylstilbestrol (DES) during pregnancy.
DES syndrome
congenital anomalies of the kidney and urinary tract 3
A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21.
congenital anomalies of kidney and urinary tract 3
congenital anomalies of the kidney and urinary tract
A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
CAKUT
MCDK
Multicystic kidney dysplasia
Renal or urinary tract malformation
congenital anomalies of kidney and urinary tract
reviewing classification, see no need to keep this parent term[LS]
obsolete monogenic chronic kidney disease
A chronic kidney disease that has_material_basis_in a mutation in a single gene.
Alport syndrome 3B
An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present.
Alport syndrome
A syndrome disease that is characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.
Hereditary Nephritis
polycystic kidney disease 8
An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11.
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease.
autosomal dominant polycystic kidney disease
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
ADPKD
Congenital biliary ectasias
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Parkinson's disease 27
A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22.
Parkinson's disease
A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Parkinson disease
paralysis agitans
developmental and epileptic encephalopathy 111
A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12.
developmental and epileptic encephalopathy
An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.
developmental and epileptic encephalopathy 112
A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23.
developmental and epileptic encephalopathy 113
A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21.
developmental and epileptic encephalopathy 114
A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11.
developmental and epileptic encephalopathy 115
A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21.
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12.
developmental and epileptic encephalopathy 120
A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25.
developmental and epileptic encephalopathy 121
A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23.
developmental and epileptic encephalopathy 122
A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21.
infective endocarditis
An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
endocarditis
A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
withdrawal disorder
A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
substance-related disorder
A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
C1 inhibitor deficiency
A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
Quincke edema
autoimmune disease of central nervous system
An autoimmune hypersensitivity disease located_in the central nervous system.
autoimmune disease of the nervous system
An autoimmune disease affecting the nervous system.
autoimmune nervous system disorder
endocrine system disease
A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
obsolete artemis deficiency
A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.
CD3zeta deficiency
A severe combined immunodeficiency that affects the development and function of T cells.
severe combined immunodeficiency
A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
SCID
combined T and B cell inborn immunodeficiency
janus kinase-3 deficiency
A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.
MHC class I deficiency
A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.
BLS, TYPE I
BLSI
HLA CLASS I DEFICIENCY
bare lymphocyte syndrome type I
Omenn syndrome
A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
combined immunodeficiency with hypereosinophilia
recombinase activating gene 1 deficiency
A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
recombinase activating gene 2 deficiency
A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
X-linked severe combined immunodeficiency
A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
SCID-X1
XSCID
gamma chain deficiency
thymic epithelial hypoplasia
CD45 deficiency
A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
Duplicate term. Use 'term replaced by' instead. [JAB]
obsolete interleukin-7 receptor alpha deficiency
A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
IL-7R
severe combined immunodeficiency 104
A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.
autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
interleukin-7 receptor alpha deficiency
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
CD3delta deficiency
A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
CD3D
CD3epsilon deficiency
A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
CD3gamma deficiency
A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
coronin-1A deficiency
A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
reticular dysgenesis
A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
De Vaal disease
aleukocytosis
DNA ligase IV deficiency
A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
LIG4 Syndrome
combined T cell and B cell immunodeficiency
A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.
Congenital Combined Immunodeficiency
CD40 ligand deficiency
A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
HIGMX-1
X-linked hyper-IgM syndrome
immunodeficiency with hyper IgM type 3
A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
CD40 deficiency
HIGM3
hyper-IgM syndrome due to CD40 deficiency
type 3 hyper-IgM immunodeficiency
hyper IgM syndrome
A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
HIGM
hyperimmunoglobulin M syndrome
immunodeficiency with hyper-IgM
lambda 5 deficiency
A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
B cell deficiency
A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
B cell (antibody) deficiencies
Immunoglobulin heavy chain deficiency
immunoglobulin heavy chain deletion
immunoglobulin alpha deficiency
A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.
IgA deficiency
gamma-A-globulin deficiency
immunoglobulin beta deficiency
A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance.
IgB deficiency
agammaglobulinemia 4
An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.
B cell linker protein deficiency
B-cell linker protein deficiency
BLNK deficiency
agammaglobulinemia
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
IGHM
hypogammaglobulinemia
mu heavy chain deficiency
Good syndrome
A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
thymoma with hypogammaglobulinemia
autoimmune disease of exocrine system
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
musculoskeletal system disease
A disease of anatomical entity that occurs in the muscular and/or skeletal system.
peripheral nervous system disease
A nervous system disease that affects the peripheral nervous system.
peripheral nerve disease
dropped head syndrome
A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.
floppy head syndrome
obsolete medical disorder
A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
developmental disorder of mental health
A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
disease of mental health
A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
autoimmune disease of skin and connective tissue
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
pervasive developmental disorder
A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
Pervasive Child Development Disorders
pervasive development disorder
atypical autism
An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism.
PDD
sexual health disorder
A disease of mental health that involves the impairment in normal sexual functioning.
paraphilia disorder
A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.
Munchausen by proxy
A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
factitious disorder
A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
Munchausen syndrome
aphasia
A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.
language disorder
A communication disorder that involves the processing of linguistic information.
writing disorder
A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
learning disability
A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
Academic skill disorder
learning disorder
nosophobia
A specific phobia that involves an irrational fear of contracting a disease.
specific phobia
A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
simple phobia
autoimmune disease of blood
An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
obsolete neurological disorder
A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness.
obsolete peripheral neuropathy
A neuropathy that is located_in nerves of the peripheral nervous system.
autonomic peripheral neuropathy
A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence.
popliteal pterygium syndrome
A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
facio-genito-popliteal syndrome
popliteal web syndrome
hypersensitivity reaction disease
An immune system disease that has_material_basis_in abnormal immune responses.
immune system disease
A disease of anatomical entity that is located_in the immune system.
gluten allergy
A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance.
allergy to gluten
gluten allergic reaction
food allergy
A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
food hypersensitivity
lymphoma
A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
lymphoid cancer
lymphatic system cancer
An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
hematologic cancer
An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
Hematologic malignancy
Hematologic neoplasm
Hematological tumors
blood cancer
hematopoietic and lymphoid system tumor
hematopoietic cancer
hematopoietic neoplasm
hematopoietic tumors
malignant hematopoietic neoplasm
primary cutaneous T-cell non-Hodgkin lymphoma
A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.
cutaneous T cell lymphoma
cutaneous T-cell lymphoma
autosomal dominant tubulointerstitial kidney disease
A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades.
HNFJ
MCKD
familial juvenile hyperuricemic nephropathy
medullary cystic kidney disease
sideroblastic anemia 1
A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.
X-linked sideroblastic anaemia
X-linked sideroblastic anemia
XLSA
sideroblastic anaemia 1
obsolete sideroblastic anemia with spinocerebellar ataxia
A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum.
ASAT
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene.
autosomal recessive pyridoxine-refractory sideroblastic anaemia 2
pyridoxine-refractory autosomal recessive sideroblastic anaemia
pyridoxine-refractory autosomal recessive sideroblastic anemia
pyridoxine-responsive sideroblastic anemia
A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance.
Pearson syndrome
A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Pearson Marrow-Pancreas Syndrome
nonbacterial thrombotic endocarditis
An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
marantic endocarditis
non-bacterial thrombotic endocarditis
obsolete Bacillus cereus pneumonia
pre-malignant neoplasm
A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
disease of cellular proliferation
A disease that is characterized by abnormally rapid cell division.
cell process disease
neoplasm
immune system cancer
An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
ductal carcinoma in situ
A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.
breast carcinoma in situ
An in situ carcinoma that is located_in the breast.
Non-Infiltrating carcinoma of breast
carcinoma in situ of breast
estrogen-receptor positive breast cancer
A breast cancer that is characterized by the presence of estrogen receptors.
estrogen-receptor negative breast cancer
A breast cancer that is characterized by the absence of estrogen receptors.
progesterone-receptor positive breast cancer
A breast cancer that is characterized by the presence of progesterone receptors.
progesterone-receptor negative breast cancer
A breast cancer that is characterized by the absence of progesterone receptors.
Her2-receptor positive breast cancer
A breast cancer that is characterized by the presence of Her2 receptors.
Her2-receptor negative breast cancer
A breast cancer that is characterized by the absence of Her2 receptors.
triple-receptor negative breast cancer
A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.
breast benign neoplasm
A thoracic benign neoplasm that is characterized by lack of malignancy.
thoracic benign neoplasm
An organ system benign neoplam that is located_in the thoracic cavity.
breast disease
A disease of anatomical entity that is located_in the breast.
female reproductive organ benign neoplasm
A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
female reproductive system disease
A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
male reproductive organ benign neoplasm
A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
male reproductive system disease
A reproductive system disease that affects male reproductive organs.
vestibular gland benign neoplasm
A female reproductive organ benign neoplasm that is located_in the vestibular gland.
central nervous system benign neoplasm
A nervous system benign neoplasm that is characterized by lack of malignancy.
nervous system benign neoplasm
An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
cardiovascular organ benign neoplasm
An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
immune system organ benign neoplasm
An organ system benign neoplasm located_in the immune system organs.
uterine benign neoplasm
A female reproductive organ benign neoplasm that is located_in the uterus.
osteoblastoma
A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.
musculoskeletal system benign neoplasm
An organ system benign neoplasm that is located_in the muscular and skeletal organs.
musculoskeletal system cancer
An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
skeletal system cancer
obsolete benign glioma
A cell type benign neoplasm that has_material_basis_in glial cells.
cartilage cancer
A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.
cartilage disease
A connective tissue disease that is located_in cartilage.
Cartilage disorder
Chondropathy
connective tissue cancer
A musculoskeletal system cancer that is located_in connective tissue.
Tumour of connective tissue
connective tissue neoplasm
mesenchymal tissue malignant neoplasm
neoplasm of connective tissues
central nervous system embryonal tumor
A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.
CNS embryonal tumour, NEC/NOS
central nervous system primitive neuroectodermal neoplasm
cerebrum cancer
A supratentorial cancer that is located_in the cerebrum.
cerebral cancer
neoplasm of cerebrum
tumor of Cerebrum
cerebellar medulloblastoma
A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
cerebellum cancer
cerebellar cancer
malignant tumor of Cerebellum
brain meningioma
A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin.
meningioma
A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
meningeal neoplasm
meningothelial cell tumor
neoplasm of the meninges
primary Meningeal tumor
brain cancer
A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
BT - Brain tumour
adult brain tumor
adult malignant brain neoplasm
brain neoplasm
brain neoplasm, adult
malignant brain tumour
malignant primary brain neoplasm
malignant primary brain tumor
malignant tumor of Brain
malignant tumor of adult brain
neoplasm of brain
primary brain neoplasm
primary brain tumor
primary malignant neoplasm of brain
tumor of the Brain
brain glioma
A brain cancer that has_material_basis_in glial cells.
lower grade glioma
vulvar benign neoplasm
A female reproductive organ benign neoplasm that is located_in the vulva.
cervical benign neoplasm
A female reproductive organ benign neoplasm that is located_in the cervix.
fallopian tube benign neoplasm
A female reproductive organ benign neoplasm that is located_in the fallopian tube.
ovarian benign neoplasm
A female reproductive organ benign neoplasm that is located_in the ovary.
ovarian disease
A female reproductive system disease that is located_in the ovary.
vaginal benign neoplasm
A female reproductive organ benign neoplasm that is located_in the vagina.
sensory system cancer
A nervous system cancer that is located in the sensory system.
nervous system cancer
An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
malignant neoplasm of nervous system
neoplasm of nervous system
nervous system neoplasm
neural neoplasm
neural tumor
tumor of the nervous system
peritoneal benign neoplasm
A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
disease of anatomical entity
A disease that manifests in a defined anatomical structure.
obsolete skeletal system benign neoplasm
integumentary system benign neoplasm
An organ system benign neoplasm located_in the integumentary system organs.
integumentary system disease
A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
integumentary system cancer
An organ system cancer that is located_in the skin, hair and nails.
heavy chain disease
A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
hypersensitivity reaction type IV disease
A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.
immunoproliferative disease
alpha chain disease
A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
Seligmann's disease
gamma heavy chain disease
A heavy chain disease that results from an overproduction of gamma antibody (IgG).
Franklin's disease
mu chain disease
A heavy chain disease that results from an overproduction of mu antibody (IgM).
delta chain disease
A heavy chain disease that results from an overproduction of delta antibody (IgD).
akinetopsia
An agnosia that is a loss of motion perception.
agnosia
A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
Dyspraxia
Dyspraxia syndrome
alexithymia
An agnosia that is a deficiency in understanding, processing, or describing emotions.
amusia
An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
receptive amusia
anosognosia
An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
apperceptive agnosia
An agnosia that is a loss of the ability to distinguish visual shapes.
apraxia
An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
associative agnosia
An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.
auditory agnosia
An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
autotopagnosia
An agnosia that is a loss of the ability to orient parts of the body.
color agnosia
An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
cortical deafness
An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
finger agnosia
An agnosia that is a loss of the ability to distinguish the fingers on the hand.
form agnosia
An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
integrative agnosia
An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
mirror agnosia
An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
pain agnosia
An agnosia that is a loss of the ability to perceive and process pain.
analgesia
phonagnosia
An agnosia that is a loss of the ability to recognize familiar voices.
semantic agnosia
An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
simultanagnosia
An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
social emotional agnosia
An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
expressive agnosia
astereognosia
An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
somatosensory agnosia
tactile agnosia
An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
time agnosia
An agnosia that is a loss of the ability to comprehend the succession and duration of events.
topographical agnosia
An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
visual agnosia
An agnosia that is a loss of the ability to visually recognize objects.
verbal auditory agnosia
An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
visual verbal agnosia
An agnosia that is a loss of the ability to comprehending the meaning of written words.
diffuse alopecia areata
An alopecia areata that involves diffuse loss of hair over the whole scalp.
alopecia areata
An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
Circumscribed alopecia
organic acidemia
An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
organic acid metabolism disorder
organic aciduria
Kennedy's disease
A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
Kennedy disease
SBMA
Spinobulbar Muscular Atrophy
X-Linked Bulbo-Spinal Atrophy
X-linked Spinal and Bulbar Muscular Atrophy
spinal bulbar muscular atrophy
dentatorubral-pallidoluysian atrophy
An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
DRPLA
Haw River Syndrome
Naito-Oyanagi disease
body dysmorphic disorder
A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
body dysmorphia
dysmorphic syndrome
dysmorphophobia
somatoform disorder
A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
physiological malfunction arising from mental factor
psychophysiologic disorder
psychosomatic disorder
pain disorder
A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
Kleine-Levin syndrome
A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
recurrent hypersomnia
A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.
primary recurrent hypersomnia
bipolar ll disorder
A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
bipolar disorder
A mood disorder that involves alternating periods of mania and depression.
Manic Bipolar Affective disorder
Manic Depressive disorder
Manic bipolar I disorder
bipolar depression
bipolar disorder manic phase
manic depression
manic disorder
mixed bipolar disorder
Depressive-manic psych.
seasonal affective disorder
A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
winter depression
depressive disorder
A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.
mental depression
depression
histidinemia
A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
histidinuria
histidine metabolism disease
An amino acid metabolic disorder that involves deficiency in histidine.
Disturbances of histidine metabolism
benign familial infantile epilepsy
An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae.
BFIC
BFIE
benign familial infantile convulsion
benign familial infantile seizures
generalized epilepsy with febrile seizures plus
An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
GEFS+
generalized epilepsy
An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
idiopathic generalized epilepsy
obsolete Dravet syndrome
juvenile absence epilepsy
An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
Timothy syndrome
A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.
long QT syndrome with syndactyly
GABA aminotransferase deficiency
A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
Gamma-amino butyric acid transaminase deficiency
gamma-aminobutyric acid transaminase deficiency
gamma-amino butyric acid metabolism disorder
An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
succinic semialdehyde dehydrogenase deficiency
A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
4-hydroxybutyric aciduria
SSADH
gamma-hydroxybutyric aciduria
homocarnosinosis
A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
familial hemiplegic migraine
A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
migraine with aura
A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
classic migraine
Renpenning syndrome
An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
Golabi-Ito-Hall syndrome
Sutherland-Haan X-linked mental retardation syndrome
X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability, Renpenning type
X-linked mental retardation Renpenning type
X-linked mental retardation with spastic diplegia
syndromic X-linked mental retardation 8
colitis
An inflammatory bowel disease that involves inflammation located_in colon.
colonic disease
A intestinal disease located in the colon.
colon disorder
ischemic colitis
A colitis caused_by inadequate blood supply to the colon.
microscopic colitis
A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.
collagenous colitis
A colitis characterized by a distinctive thickening of the subepithelial collagen table.
The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.
lymphocytic colitis
A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
Clostridium difficile colitis
A colitis characterized by an overgrowth of Clostridium difficile bacteria.
Pseudomembranous colitis
chemical colitis
A colitis caused_by introduction of various chemicals.
diversion colitis
A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
jejunoileitis
An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
MESH:C536215 added from NeuroDevNet [WAK].
Crohn's disease
An intestinal disease that involves inflammation located_in intestine.
Crohn disease
Crohn's disease of colon
Crohn's disease of large bowel
Granulomatous Colitis
Pediatric Crohn's disease
ileitis
An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
Crohn's ileitis
OWL classification.
ileocolitis
An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease.
gastroduodenal Crohn's disease
An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
upper GI Crohn's disease
duodenitis
Hemorrhagic duodenitis
Crohn's colitis
An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
anal fistula
An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
ulcer of anus and rectum
anal and rectal ulcer
amyotrophic lateral sclerosis type 1
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
ALS1
amyotrophic lateral sclerosis 1
amyotrophic lateral sclerosis type 2
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2.
ALS2
amyotrophic lateral sclerosis 2
amyotrophic lateral sclerosis 2, juvenile
amyotrophic lateral sclerosis type 3
An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18.
ALS3
amyotrophic lateral sclerosis 3
amyotrophic lateral sclerosis type 4
An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
ALS4
amyotrophic lateral sclerosis 4
amyotrophic lateral sclerosis 4, juvenile
dHMN with upper motor neuron signs
distal hereditary motor neuropathy with pyramidal features
distal hereditary motor neuropathy with upper motor neuron signs
amyotrophic lateral sclerosis type 5
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
ALS5
amyotrophic lateral sclerosis 5
amyotrophic lateral sclerosis type 6
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
ALS6
amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
autosomal recessive amyotrophic lateral sclerosis 6
amyotrophic lateral sclerosis type 7
An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20.
ALS7
amyotrophic lateral sclerosis 7
amyotrophic lateral sclerosis type 9
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.
ALS9
amyotrophic lateral sclerosis 9
amyotrophic lateral sclerosis type 10
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
ALS10
TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
amyotrophic lateral sclerosis 10
amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
amyotrophic lateral sclerosis type 11
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
ALS11
amyotrophic lateral sclerosis 11
amyotrophic lateral sclerosis type 12
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.
ALS12
amyotrophic lateral sclerosis 12
An association between 29 or more CAG repeats and the development of ALS13 exists.
amyotrophic lateral sclerosis type 13
An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility.
ALS13
amyotrophic lateral sclerosis 13
frontotemporal dementia and/or amyotrophic lateral sclerosis 6
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.
ALS14
amyotrophic lateral sclerosis 14
amyotrophic lateral sclerosis type 14
amyotrophic lateral sclerosis, with or without frontotemporal dementia
Described in one family only.
amyotrophic lateral sclerosis type 15
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X.
ALS15
amyotrophic lateral sclerosis 15
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
amyotrophic lateral sclerosis type 16
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.
ALS16
amyotrophic lateral sclerosis 16
amyotrophic lateral sclerosis 16, juvenile
obsolete amyotrophic lateral sclerosis type 17
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3.
amyotrophic lateral sclerosis type 18
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.
ALS18
amyotrophic lateral sclerosis 18
amyotrophic lateral sclerosis type 19
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2.
ALS19
amyotrophic lateral sclerosis 19
amyotrophic lateral sclerosis type 20
An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12.
ALS20
amyotrophic lateral sclerosis 20
amyotrophic lateral sclerosis type 21
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5.
ALS21
Updated nomenclature:sources https://www.cell.com/neuron/abstract/S0896-6273(25)00286-7 and https://www.ncbi.nlm.nih.gov/books/NBK268647/ -csbjohnson
C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
ALSFTD
C9orf72-FTD/ALS
FTDALS1
FTDMND
amyotrophic lateral sclerosis and/or frontotemporal dementia
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
frontotemporal dementia and/or motor neuron disease
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
FTDALS2
Similar to standard multiple sclerosis.
Balo concentric sclerosis
A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
Balo disease
Balo's concentric sclerosis
Tumefactive multiple sclerosis
OWL also bilateral audiovestibular deficits.
Cogan syndrome
An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
Cogan's syndrome
diffuse interstitual keratitis
Cogan-Reese syndrome
An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
CREST syndrome
A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
lymph node adenoid cystic carcinoma
A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
lymph node adenoid cystic cancer
lymph node carcinoma
A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
WD correction.
physical urticaria
An urticaria induced by external physical influences.
urticaria
A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
WD former synonym.
Maffucci syndrome
A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
Scheie syndrome
A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
mucopolysaccharidosis type 1S
mucopolysaccharidosis type IS
mucopolysaccharidosis type V
mucopolysaccharidosis I
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Hurler syndrome
Hurler-Scheie syndrome
Lipochondrodystrophy
MPS I - Hurler syndrome
Mucopolysaccharidosis, MPS-I
Mucopolysaccharidosis, type 1
iduronidase deficiency disease
agraphia
An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
3MC syndrome
A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
craniofacial-ulnar-renal syndrome
oculopalatoskeletal syndrome
acrofrontofacionasal dysostosis
A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
AFFN dysostosis
Richieri-Costa-Colletto syndrome
Adams-Oliver syndrome
A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
Adams Oliver syndrome
intracranial berry aneurysm
An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
familial aneurysmal subarachnoid hemorrhage
familial berry aneurysm
familial intracranial saccular aneurysm
saccular cerebral aneurysm
intracranial aneurysm
brain aneurysm
Baraitser-Winter syndrome
A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
basal ganglia calcification
A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
Fahr disease
Bruck syndrome
A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
osteogenesis imperfecta with congenital joint contractures
branchiootic syndrome
A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
BO syndrome
BOR
branchiootic dysplasia
cardiofaciocutaneous syndrome
A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
CFC syndrome
cardio-facial-cutaneous syndrome
Carpenter syndrome
An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
acrocephalopolysyndactyly type II
acrocephalosyndactylia
A synostosis that results_in craniosynostosis and syndactyly.
Apert syndrome
carnitine palmitoyltransferase II deficiency
A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
CPT-II
infantile carnitine palmitoyltransferase II deficiency
late-onset carnitine palmitoyltransferase II deficiency
lethal neonatal carnitine palmitoyltransferase II deficiency
lipid metabolism disorder
An inherited metabolic disorder that involves the creation and degradation of lipids.
dyslipidemia
fatty acid metabolism disorder
xanthinuria
A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
classic xanthinuria
hereditary xanthinuria
xanthine dehydrogenase deficiency
xanthine oxidase deficiency
purine-pyrimidine metabolic disorder
An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
inborn errors of purine-pyrimidine metabolism
Warburg micro syndrome
A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
WARBM
Warburg-Sjo-Fledelius syndrome
micro syndrome
Van Maldergem syndrome
A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
cerebro-facio-articular syndrome
Van der Woude syndrome
A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
lip-pit syndrome
UV-sensitive syndrome
A skin disease characterized by photosensitivity and liver spots (solar lentigines).
3-M syndrome
A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
Le Merrer syndrome
Miller-McKusick-Malvaux syndrome
Yakut short stature syndrome
dolichospondylic dysplasia
gloomy face syndrome
three M syndrome
synpolydactyly
A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
syndactyly type 2
syndactyly
A synostosis that results_in the fusion of two or more digits.
symphalangism
symphalangy
webbing of digits
stuttering
An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
familial persistent stuttering
stammering
articulation disorder
A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.
Articulation impairment
Phonological disorder
specific language impairment
A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
Mast syndrome
A hereditary spastic paraplegia associated with dementia.
SPG21
autosomal recessive spastic paraplegia 21
autosomal recessive spastic paraplegia type 21
hereditary spastic paraplegia 21
MASA syndrome
A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
CRASH syndrome
Gareis-Mason syndrome
L1 syndrome
SPG1
X-linked complicated hereditary spastic paraplegia type 1
X-linked corpus callosum agenesis
X-linked spastic paraplegia 1
hereditary spastic paraplegia 1
Smith-McCort dysplasia
A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.
Dyggve-Melchior-Clausen disease
A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.
DMC disease
pseudo-Morquio disease type I
Simpson-Golabi-Behmel syndrome type 1
A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
DGSX Golabi-Rosen syndrome
Golabi-Rosen syndrome
SGB syndrome
Sara Angers syndrome
Simpson dysmorphia syndrome
X-linked dysplasia gigantism syndrome
bulldog syndrome
NT MGI add.
scoliosis
A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
bone structure disease
A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
idiopathic scoliosis
A scoliosis with no known cause.
sclerosteosis
A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
hyperostosis
A bone remodeling disease that results in an abnormal growth of located in bone.
bone hypertrophy
hypertrophy of bone
sclerocornea
A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
isolated congenital sclerocornea
scapuloperoneal myopathy
A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
Robinow syndrome
A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
Robinow dwarfism
acral dysostosis with facial and genital abnormalities
fetal face syndrome
rippling muscle disease 2
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
autosomal dominant limb-girdle muscular dystrophy type 1C
Dowling-Degos disease
A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
dark dot disease
reticular pigment anomaly of flexures
pigmentation disease
A skin disease that is characterized by discoloration of the skin.
dyschromatosis symmetrica hereditaria
A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
reticulate acropigmentation of Dohi
reticulate acropigmentation of Kitamura
A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
RAPK
renal-hepatic-pancreatic dysplasia
A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
Ivemark's syndrome
ptosis
An eye disease characterized by the drooping or falling of the upper or lower eyelid.
blepharoptosis
drooping eyelid
congenital ptosis
A ptosis characterized by superior eyelid drop present at birth.
hereditary congenital ptosis
porencephaly
A brain disease that is characterized by encephalomalacia and cystic brain lesions.
pontocerebellar hypoplasia
A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
PCH
pontocerebellar hypoplasia type 1A
A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
pontocerebellar hypoplasia type 1
A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.
Norman disease
PCH1
pontocerebellar hypoplasia with anterior horn cell disease
pontocerebellar hypoplasia with infantile spinal muscular atrophy
pontocerebellar hypoplasia type 1B
A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
pontocerebellar hypoplasia type 2A
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
pontocerebellar hypoplasia type 2
A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.
PCH2
pontocerebellar hypoplasia type 2B
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
pontocerebellar hypoplasia type 2C
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
pontocerebellar hypoplasia type 2D
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
pontocerebellar hypoplasia type 2E
A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13.
pontocerebellar hypoplasia type 3
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.
pontocerebellar hypoplasia type 4
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
pontocerebellar hypoplasia type 5
A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
pontocerebellar hypoplasia type 6
A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
pontocerebellar hypoplasia type 7
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
pontocerebellar hypoplasia type 8
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
pontocerebellar hypoplasia type 9
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
pontocerebellar hypoplasia type 10
A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
primary pigmented nodular adrenocortical disease
An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
PPNAD
adrenal cortex disease
An adrenal gland disease that is located_in the adrenal cortex.
photosensitive epilepsy
An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
photogenic epilepsy
photoparoxysmal response
persistent hyperplastic primary vitreous
A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
vitreous disease
An eye and adnexa disease that is located in the vitreous of the eye.
peeling skin syndrome
A skin disease that is characterized by the painless, continuous peeling of the top layer of skin.
deciduous skin
familial continuous skin peeling syndrome
keratosis exfoliativa congenita
peeling skin disease
paroxysmal nocturnal hemoglobinuria
An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
hemoglobinuria
parietal foramina
An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.
Caitlin marks
enlarged parietal foramina
hereditary cranium bifidum
neural tube defect
A physical disorder characterized by incomplete closure of the neural tube.
combined oxidative phosphorylation deficiency
A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
cornea plana
A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D.
flat cornea
omodysplasia
An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism.
Ohdo syndrome
A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Ohdo blepharophimosis syndrome
Ohdo syndrome, SBBYS variant
A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22.
Say-Barber-Biesecker-Young-Simpson syndrome
blepharophimosis-intellectual disability syndrome, SBBYS type
SBBYSS
oculodentodigital dysplasia
A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
ODD syndrome
X-linked chondrodysplasia punctata 1
A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.
chondrodystrophia calcificans congenita
DeObs MGI.
chondrodysplasia punctata
A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
Chondrodysplasia punctata congenita
autosomal dominant chondrodysplasia punctata
A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.
cold-induced sweating syndrome
A syndrome that is characterized by profuse sweating induced by cold ambient temperature.
Crisponi syndrome
Sohar-Crisponi syndrome
complement component 2 deficiency
A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.
congenital secretory chloride diarrhea 1
A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31.
congenital chloride diarrhea finnish type
congenital chloride diarrhoea finnish type
congenital chloridorrhea
congenital secretory chloride diarrhoea 1
complement component 4a deficiency
A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency.
complement component 4b deficiency
A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency.
complement component 6 deficiency
A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene.
complement component 7 deficiency
A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene.
type I complement component 8 deficiency
A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.
type II complement component 8 deficiency
A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.
complement component 9 deficiency
A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene.
dyschromatosis universalis hereditaria
A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
megalocornea
A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.
anterior megalophthalmos
congenital anterior megalophthalmia
PRISM.
uvulitis
An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
acute uvulitis
adenoid hypertrophy
An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.
adenoidal hypertrophy
enlarged adenoids
angular cheilitis
A cheilitis characterized by inflammation of one or both of the corners of the mouth.
angular cheilosis
angular stomatitis
cheilosis
commissural cheilitis
cheilitis
A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
tracheomalacia
A tracheal disease characterized by flaccidity of the tracheal support cartilage.
congenital tracheomalacia
tracheal disease
persistent generalized lymphadenopathy
A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
PGL
lymph node disease
oral hairy leukoplakia
A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
hairy leukoplakia
orofaciodigital syndrome I
An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
Papillon-Leage-Psaume syndrome
orofaciodigital syndrome 1
orofaciodigital syndrome type I
orofaciodigital syndrome
A syndrome that is characterized by malformations of the face, oral cavity, and digits.
oral-facial-digital syndrome
lung abscess
A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
acute promyelocytic leukemia
An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
acute myeloblastic leukaemia type 3
acute myeloblastic leukemia type 3
acute myeloid leukaemia M3
acute myeloid leukemia M3
acute promyelocytic leukaemia
acute myeloid leukemia
A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
AML - acute Myeloid Leukemia
Leukemia, Myelocytic, acute
acute myeloblastic leukaemia
acute myeloblastic leukemia
acute myelogenous leukaemia
acute myelogenous leukemia
acute myeloid leukaemia
cardiac arrest
A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
cardiopulmonary arrest
circulatory arrest
inguinal hernia
An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
umbilical hernia
A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
mastoiditis
A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
bone inflammation disease
A bone disease that results_in inflammation of the located_in bone.
Inflammatory disorder of bone
bone inflammatory disease
osteitis
middle ear disease
breast abscess
A breast disease characterized by a collection of pus in the breast.
dental abscess
A tooth disease characterized by a localized collection of pus associated with a tooth.
cervical polyp
A cervix disease characterized by a benign polyp on the surface of the cervical canal.
myelomeningocele
A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
spina bifida
A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
omphalocele
A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
exomphalos
omphalocoele
rectal disease
ectopic pregnancy
A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
eccyesis
Part of AEC spectrum. Research more.
Rapp-Hodgkin syndrome
An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
RHS
anhidrotic ectodermal dysplasia with cleft lip/palate
ectodermal dysplasia syndrome, Rapp-Hodgkin type
ectodermal dysplasia, Rapp-Hodgkin type
ectodermal dysplasia
A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Congenital ectodermal defect
Congenital ectodermal dysplasia
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
MC5DN2
neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.
MC5DN3
mitochondrial complex V (ATP synthase) deficiency nuclear type 4
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1.
MC5DN4
transient neonatal diabetes mellitus
A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
neonatal diabetes mellitus
A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
diabetes mellitus syndrome in newborn infant
neonatal diabetes
autosomal dominant sideroblastic anemia 4
A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
Flybase.
CEDNIK syndrome
A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
parameningeal embryonal rhabdomyosarcoma
An embryonal rhabdomyosarcoma located in the parameningeal region.
embryonal rhabdomyosarcoma
A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.
chronic atrial and intestinal dysrhythmia
A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
CAID syndrome
agnathia-otocephaly complex
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
agnathia-holoprosencephaly-situs inversus syndrome
dysgnathia complex agnathia-holoprosencephaly
holoprosencephaly-agnathia
otocephaly
acromelic frontonasal dysostosis
A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations and that has_material_basis_in heterozygous mutation in the ZSWIM6 gene on chromosome 5q12.
glucocorticoid-induced osteoporosis
An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
steroid-induced osteoporosis
osteoporosis
A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
acrodermatitis chronica atrophicans
An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
Herxheimer disease
primary diffuse atrophy
acrodermatitis
A dermatitis that selectively affects the hands and feet.
bacillary angiomatosis
A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
congenital myopathy 13
A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.
Bailey-Bloch congenital myopathy
Native American myopathy
STAC3 disorder
congenital myopathy
A myopathy that is characterized by hypotonia and weakness, usually present from birth.
acrorenal syndrome
A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
hypoparathyroidism-retardation-dysmorphism syndrome
A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.
HRD syndrome
Sanjad-Sakati syndrome
hypoparathyroidism with short stature, mental retardation and seizures
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
chorioretinal dysplasia-microcephaly-mental retardation syndrome
lymphedema and retinal folds with ficrocephaly and microphthalmos
lymphedema, microcephaly and chorioretinopathy syndrome
microcephaly lymphedema chorioretinal dysplasia
microcephaly, lymphedema, chorioretinal dysplasia syndrome
adenine phosphoribosyltransferase deficiency
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
2,8-dihydroxyadenine urolithiasis
APRT deficiency
mitochondrial complex III deficiency nuclear type 2
A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
MC3DN2
mitochondrial complex III deficiency
A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.
Kleefstra syndrome 1
A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
9q subtelomeric deletion syndrome
9q-syndrome
9q34 deletion syndrome
Kleefstra syndrome
A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
acrofacial dysostosis Cincinnati type
An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
acrofacial dysostosis
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
Stormorken syndrome
A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
thrombocytopathy, asplenia and miosis
blood platelet disease
A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
Thrombocytopathy
platelet disorder
amyotrophic lateral sclerosis type 22
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35.
ALS22
amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
amyotrophic lateral sclerosis 22
Vici syndrome
A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
chylomicron retention disease
A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
Anderson disease
CMRD
multiple acyl-CoA dehydrogenase deficiency
An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
MAD deficiency
MADD
electron transfer flavoprotein deficiency
electron transfer flavoprotein ubiquinone oxidoreductase deficiency
glutaric acidemia type 2
glutaric aciduria type 2
Sakati-Nyhan syndrome
An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
ACPS with leg hypoplasia
Sakati syndrome
Sakati-Nyhan-Tisdale syndrome
acrocephalopolysyndactyly Type III
acrocephalopolysyndactyly type 3
hereditary papulotranslucent acrokeratoderma
A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
cholesteatoma
A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.
punctate palmoplantar keratoderma
A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
punctate palmoplantar hyperkeratosis
punctate keratosis palmoplantaris
punctate palmoplantar keratoderma type III
A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
acrokeratoelastoidosis of Costa
punctate palmoplantar hyperkeratosis type 3
punctate palmoplantar keratoderma type 3
glycerol kinase deficiency
An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
Galloway-Mowat syndrome 1
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
Galloway syndrome
SCAR5
autosomal recessive spinocerebellar ataxia 5
microcephaly, hiatal hernia and nephrotic syndrome
nephrosis-microcephaly syndrome
nephrosis-neuronal dysmigration syndrome
Galloway-Mowat syndrome
A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.
mandibulofacial dysostosis with alopecia
A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
MFDA
Hennekam syndrome
A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
Hennekam lymphangiectasia-lymphedema syndrome
lymphedem-lymphangiectasia-intellectual disability syndrome
Parkinson's disease 1
A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1.
autosomal dominant Parkinson disease 1
autosomal dominant Parkinson's disease 1
late onset Parkinson's disease
A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.
late onset Parkinson disease
Parkinson's disease 2
An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
Parkinson disease juvenile type 2
autosomal recessive juvenile Parkinson disease 2
autosomal recessive juvenile Parkinson's disease 2
early-onset Parkinson's disease
A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age.
Young-onset Parkinson disease
early-onset Parkinson disease
Parkinson's disease 6
An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
PARK6
autosomal recessive early-onset Parkinson disease 6
autosomal recessive early-onset Parkinson's disease 6
early-onset Parkinson disease 6
Parkinson's disease 7
An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
autosomal recessive early-onset Parkinson disease 7
autosomal recessive early-onset Parkinson's disease 7
Parkinson's disease 8
A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.
autosomal dominant Parkinson disease 8
autosomal dominant Parkinson's disease 8
Parkinson's disease 15
An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.
Parkinsonian-pyramidal syndrome
autosomal recessive early-onset Parkinson disease 15
autosomal recessive early-onset Parkinson's disease 15
pallidopyramidal syndrome
orofaciodigital syndrome III
An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance.
Sugarman syndrome
orofaciodigital syndrome IV
An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
Baraitser-Burn syndrome
OFD4
orofaciodigital syndrome V
An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
OFD5
orofaciodigital syndrome Thurston type
polydactyly, postaxial, with median cleft of upper lip
Joubert syndrome with orofaciodigital defect
A Joubert syndrome that is characterized by orofaciodigital defect.
OFD6
Polydactyly cleft lip palate psychomotor retardation
Varadi syndrome
Varadi-Papp syndrome
orofaciodigital syndrome VI
orofaciodigital syndrome VII
An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.
OFD7
Whelan syndrome
orofaciodigital syndrome VIII
An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
OFD8
orofaciodigital syndrome X
An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
OFD10
orofaciodigital syndrome with fibular aplasia
orofaciodigital syndrome XI
An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.
orofaciodigital syndrome IX
An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
OFD9
orofaciodigital syndrome with retinal abnormalities
acrofacial dysostosis Rodriguez type
An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.
acrofacial dysostosis, syndrome of Rodriguez
acrofacial dysostosis, Catania type
An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
Opitz Mollica Sorge syndrome
Opitz-Caltabiano syndrome
acrofacial dysostosis, Patagonia type
An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.
Chilblain lupus
A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.
chondrodysplasia Blomstrand type
An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
Blomstrand lethal chondrodysplasia
chromosomal disease
A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
chromosome 10q23 deletion syndrome
A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.
distal 10q deletion syndrome
A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.
chromosome 10q26 deletion syndrome
distal monosomy 10q
monosomy 10qter
telomeric deletion 10q
terminal chromosome 10q26 deletion syndrome
chromosome 13q14 deletion syndrome
A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.
deletion 13q14
chromosome 14q11-q22 deletion syndrome
A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.
14q11.2 microdeletion syndrome
chromosome 15q11.2 deletion syndrome
A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
15q11.2 microdeletion syndrome
chromosome 15q13.3 microdeletion syndrome
A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.
15q24 microdeletion syndrome
chromosome 15q25 deletion syndrome
A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.
chromosome 15q26-qter deletion syndrome
A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
15q26 deletion syndrome
Drayer syndrome
distal 15q deletion syndrome
distal monosomy 15q
telomeric 15q deletion syndrome
chromosome 16p11.2 deletion syndrome, 220-kb
A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.
distal 16p11.2 microdeletion syndrome
chromosome 16p12.1 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
chromosome 16p12.2-p11.2 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
16p11.2-p12.2 microdeletion syndrome
16p11.2p12.2 microdeletion syndrome
chromosome 16q22 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
chromosome 17p13.1 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
chromosome 17q11.2 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
17q11 microdeletion syndrome
NF1 microdeletion syndrome
Van Asperen syndrome
neurofibromatosis type 1 microdeletion syndrome
chromosome 17q12 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
17q12 microdeletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
17q23.1-q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
chromosome 18p deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
18p- syndrome
De Grouchy syndrome
monosomy 18p
chromosome 18q deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
18q- syndrome
deletion 18q
monosomy 18q
chromosome 19q13.11 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.
19q13.11 microdeletion syndrome
monosomy 19q13.11
NFIA-related disorder
A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
1p31p32 microdeletion syndrome
Chromosome 1, Monosomy 1p32
brain malformations with or without urinary tract defects
chromosome 1p32-p31 deletion syndrome
chromosome 1p36 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
1p36 deletion syndrome
deletion 1p36
monosomy 1p36
subtelomeric 1p36 deletion
chromosome 1q21.1 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.
1q21.1 microdeletion syndrome
monosomy 1q21.1
chromosome 1q41-q42 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
1q41-q42 microdeletion syndrome
1q41q42 microdeletion syndrome
holoprosencephaly
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
Holoprosencephaly sequence
chromosome 22q11.2 deletion syndrome, distal
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
DiGeorge syndrome and Velocardiofacial syndrome
distal 22q11.2 microdeletion syndrome
chromosome 2p12-p11.2 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region.
chromosome 2p16.1-p15 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.
2p15p16.1 microdeletion syndrome
2p15-p16.1 microdeletion syndrome
chromosome 2q31.2 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region.
3p deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
chromosome 3pter-P25 deletion syndrome
distal monosomy 3p
chromosome 3q13.31 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
3q13 microdeletion syndrome
monosomy 3q13
chromosome 3q29 microdeletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.
3q subtelomere deletion syndrome
3q29 microdeletion syndrome
3q29 recurrent deletion
3qter deletion
chromosome 4q21 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region.
4q21 microdeletion syndrome
monosomy 4q21
chromosome 5q12 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.
chromosome 6pter-p24 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.
6p subtelomeric deletion syndrome
6p25 microdeletion syndrome
distal monosomy 6p
chromosome 6q11-q14 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.
chromosome 6q24-q25 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region.
6q25 microdeletion syndrome
monosomy 6q25
chromosome 8q21.11 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.
8q21.11 microdeletion syndrome
chromosome 19p13.13 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.
chromosome Xp21 deletion syndrome
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region.
Xp21 microdeletion syndrome
complex glycerol kinase deficiency
monosomy Xp21
SATB2-associated syndrome
A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
2q32-q33 microdeletion syndrome
2q32q33 microdeletion syndrome
Glass syndrome
chromosome 2q32-q33 deletion syndrome
monosomy 2q32
monosomy 2q32-q33
monosomy 2q32q33
chromosomal duplication syndrome
A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
chromosome 16p11.2 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
proximal 16p11.2 microduplication syndrome
proximal dup(16)(p11.2)
proximal trisomy 16p11.2
chromosome 16p13.3 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.
16p13.3 microduplication syndrome
distal duplication 16p
distal trisomy 16p
telomeric duplication 16p
chromosome 17p13.3 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3.
17p13.3 duplication syndrome
17p13.3 microduplication syndrome
chromosome 17p13.3 centromeric duplication syndrome
trisomy 17p13.3
chromosome 17q12 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
17q12 microduplication syndrome
trisomy 17q12
chromosome 17q21.31 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region.
17q21.31 microduplication syndrome
trisomy 17q21.31
chromosome 1q21.1 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.
1q21.1 microduplication syndrome
trisomy 1q21.1
chromosome 22q11.2 microduplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.
22q11.2 microduplication syndrome
duplication 22q11.2
trisomy 22q11.2
chromosome 22q13 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene.
Cole-Carpenter syndrome
An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
osteogenesis imperfecta
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Lobstein's syndrome
Osteopsathyrosis
Vrolik's disease
brittle bone disease
Fragilitas ossium
lysinuric protein intolerance
An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
LPI
dibasic amino aciduria II
hyperdibasic aminoaciduria
epithelial and subepithelial dystrophy
A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.
corneal dystrophy
epithelial-stromal TGFBI dystrophy
A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.
stromal dystrophy
A corneal dystrophy that affects the corneal stroma.
corneal endothelial dystrophy
A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.
endothelial dystrophy
granular corneal dystrophy 2
An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
CGD2
avellino corneal dystrophy
combined granular-lattice corneal dystrophy
corneal dystrophy, Avellino type
granular corneal dystrophy type 2
granular corneal dystrophy
An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
congenital stromal corneal dystrophy
A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.
CSCD
congenital hereditary stromal dystrophy
X-linked endothelial corneal dystrophy
A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
XECD
epithelial basement membrane dystrophy
An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.
Cogan corneal dystrophy
EBMD
microcystic corneal dystrophy
Fleck corneal dystrophy
A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
FCD
Francois-Neetens speckled corneal dystrophy
gelatinous drop-like corneal dystrophy
An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
GDCD
corneal amyloidosis
primary familial amyloidosis of the cornea
subepithelial amyloidosis of the cornea
Lisch epithelial corneal dystrophy
An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.
LECD
band-shaped and whorled microcystic
Meesmann corneal dystrophy
An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
MECD
Stocker-Holt dystrophy
juvenile hereditary epithelial dystrophy
posterior amorphous corneal dystrophy
A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome.
PACD
chromosome 12q21.33 deletion syndrome
Reis-Bucklers corneal dystrophy
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
RBCD
anterior limiting membrane dystrophy type I
corneal dystrophy of Bowman layer type I
geographic corneal dystrophy
granular corneal dystrophy type III
subepithelial mucinous corneal dystrophy
An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.
SMCD
Thiel-Behnke corneal dystrophy
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
TBCD
Waardenburg-Jonker corneal dystrophy
anterior limiting membrane dystrophy type II
corneal dystrophy honeycomb-shaped
corneal dystrophy of Bowman layer type II
Schnyder corneal dystrophy
A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.
SCCD
Schnyder crystalline corneal dystrophy
corneal dystrophy crystalline of Schnyder
crystalline stromal dystrophy
hereditary crystalline stromal dystrophy of Schnyder
posterior polymorphous corneal dystrophy
A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer.
PPCD
Schlichting dystrophy
hereditary polymorphus posterior corneal dystrophy
chromosome 2q31.1 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region.
chromosome 3q29 microduplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region.
3q29 microduplication
trisomy 3q29
chromosome 5p13 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.
5p13 microduplication syndrome
trisomy 5p13
chromosome Xp11.23-p11.22 duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.
microduplication Xp11.22-p11.23 syndrome
trisomy Xp11.22-p11.23
Desbuquois dysplasia
An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
Desbuquois syndrome
micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
NUT midline carcinoma
A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
nuclear protein in testis midline carcinoma
Feingold syndrome
A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
FGLDS
MODED syndrome
ODED syndrome
digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
microcephaly-digital anomalies-normal intelligence syndrome
microcephaly-oculo-digito-esophageal-duodenal syndrome
oculo-digito-esophageal-duodenal syndrome
fibrochondrogenesis
An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.
gingival fibromatosis
A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
hereditary gingival fibromatosis
hereditary gingival hyperplasia
gingival overgrowth
Gingival enlargement
humeroradial synostosis
A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
humero-radial fusion
Holt-Oram syndrome
A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
atrio-digital syndrome
atriodigital dysplasia
heart-hand syndrome
Miller-Dieker lissencephaly syndrome
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
MDS
Miller-Dieker syndrome
salt and pepper syndrome
A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2.
salt & pepper syndrome
salt-and-pepper syndrome
fetal valproate syndrome
A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
fetal valproic acid syndrome
foetal valproate syndrome
foetal valproic acid syndrome
Kindler syndrome
A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
hereditary acrokeratotic poikiloderma of Kindler-Weary
poikiloderma of Kindler
Kabuki syndrome
A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
KMS
Kabuki make up syndrome
Niikawa-Kuroki syndrome
familial erythrocytosis 2
A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
Chuvash erythromatosis
Chuvash polycythemia
Chuvash type polycythemia
ECYT2
autosomal recessive benign erythrocytosis
primary polycythemia
A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
Familiar Polycythemia
familial erythrocytosis
myoclonic-atonic epilepsy
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
EEOC
childhood onset epileptic encephalopathy
Perlman syndrome
A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
renal hamartomas, nephroblastomatosis and fetal gigantism
Zika fever
A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
Zika virus disease
Shwachman-Diamond syndrome
A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
Shwachman-Diamond type metaphyseal dysplasia
pancreatic insufficiency and bone marrow dysfunction
left ventricular noncompaction
An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
left ventricular hypertrabeculation
Goldberg-Shprintzen syndrome
A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
Goldberg-Shprintzen megacolon syndrome
oculoauricular syndrome
A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
MEDNIK syndrome
A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
erythrokeratodermia variabilis 3
erythrokeratodermia variabilis, Kamouraska type
mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
EAST syndrome
A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
SeSAME syndrome
epilepsy, ataxia, sensorineural deafness and tubulopathy
seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
Mowat-Wilson syndrome
A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
Hirschsprung disease mental retardation syndrome
microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Perry syndrome
A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
parkinsonism with alveolar hypoventilation and mental depression
Pitt-Hopkins syndrome
A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Schimke immuno-osseous dysplasia
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
Schimke immunoosseous dysplasia
Schimke syndrome
immunoosseous dysplasia Schimke type
spondyloepiphyseal dysplasia - nephrotic syndrome
SPOAN syndrome
A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
spastic paraplegia, optic atropy, and neuropathy
spastic paraplegia, optic atropy, and neuropathy syndrome
chicken egg allergy
An egg allergy triggered by Gallus gallus eggs.
Gallus gallus egg allergy
egg allergy
A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
Allergy to eggs
shellfish allergy
A food allergy triggered by Crustacea or Mollusca.
pollen allergy
A respiratory allergy triggered by pollen.
Timothy grass allergy
A pollen allergy triggered by Phleum pratense pollen.
autoimmune neuropathy
An autoimmune disease of central nervous system caused by an autoimmune response.
gastrointestinal allergy
An allergic disease that is located_in the gastrointestinal tract.
fruit allergy
A food allergy triggered by a plant fruit product.
apple allergy
A fruit allergy triggered by Malus domestica plant fruit food product.
Malus domestica fruit allergy
apricot allergy
A fruit allergy triggered by Prunus armeniaca plant fruit food product.
Prunus armeniaca fruit allergy
cherry allergy
A fruit allergy triggered by Prunus avium plant fruit food product.
Prunus avium fruit allergy
Indian plum allergy
A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.
Ziziphus mauritiana fruit allergy
orange allergy
A fruit allergy triggered by Citrus sinensis plant fruit food product.
Citrus sinensis fruit allergy
melon allergy
A fruit allergy triggered by Cucumis melo plant fruit food product.
Cucumis melo fruit allergy
peach allergy
A fruit allergy triggered by Prunus persica plant fruit food product.
Prunus persica fruit allergy
plum allergy
A fruit allergy triggered by Prunus domestica plant fruit food product.
Prunus domestica fruit allergy
tomato allergy
A fruit allergy triggered by Solanum lycopersicum plant fruit food product.
Solanum lycopersicum fruit allergy
fish allergy
A food allergy triggered by fish.
Atlantic cod allergy
A fish allergy triggered by Gadus morhua.
Gadus morhua fish allergy
Atlantic salmon allergy
A fish allergy triggered by Salmo salar.
Salmo salar fish allergy
carp allergy
A fish allergy triggered by Cyprinus carpio.
Cyprinus carpio fish allergy
zebrafish allergy
A fish allergy triggered by Danio rerio.
Danio rerio allergy
rainbow trout allergy
A fish allergy triggered by Oncorhynchus mykiss.
Oncorhynchus mykiss allergy
penicillin allergy
A beta-lactam allergy triggered by penicillin.
cow milk allergy
A milk allergy triggered by Bos taurus milk.
Bos taurus milk allergy
milk allergy
A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual.
milk allergic reaction
goat milk allergy
A milk allergy triggered by Capra hircus milk.
Capra hircus milk allergy
mollusc allergy
A shellfish allergy triggered by Mollusca.
brown shrimp allergy
A crustacean allergy triggered by Farfantepenaeus aztecus.
Farfantepenaeus aztecus allergy
crab allergy
A crustacean allergy triggered by Scylla paramamosain.
Scylla paramamosain allergy
green mud crab allergy
Indian prawn allergy
A crustacean allergy triggered by Fenneropenaeus indicus.
Fenneropenaeus indicus allergy
tiger prawn allergy
A crustacean allergy triggered by Penaeus monodon.
Penaeus monodon allergy
white shrimp allergy
A crustacean allergy triggered by Litopenaeus vannamei.
Litopenaeus vannamei allergy
snail allergy
A mollusc allergy triggered by snails.
horned turban snail allergy
A snail allergy triggered by the horned turban snail.
Turbo cornutus allergy
latex allergy
An allergic disease that is triggered by latex.
hepatoid adenocarcinoma
An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
Warsaw breakage syndrome
A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
WABS
mitochondrial complex I deficiency
A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
isolated NADH-CoQ reductase deficiency
isolated NADH-coenzyme Q reductase deficiency
isolated NADH-ubiquinone reductase deficiency
isolated mitochondrial respiratory chain complex I deficiency
mitochondrial complex II deficiency
A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.
isolated mitochondrial respiratory chain complex II deficiency
isolated succinate-CoQ reductase deficiency
isolated succinate-coenzyme Q reductase deficiency
isolated succinate-ubiquinone reductase deficiency
purpura fulminans
A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal.
purpura gangrenosa
purpura
Purpuric disorder
Hermansky-Pudlak syndrome 1
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
Hermansky-Pudlak syndrome
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Hermansky-Pudlak syndrome 2
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
Hermansky-Pudlak syndrome 3
A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
Hermansky-Pudlak syndrome 4
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
Hermansky-Pudlak syndrome 5
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
Hermansky-Pudlak syndrome 6
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
Hermansky-Pudlak syndrome 7
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
Hermansky-Pudlak syndrome 8
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
Hermansky-Pudlak syndrome 9
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
luminal breast carcinoma A
A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
breast tumor luminal
luminal breast cancer
Luminal A Breast Carcinoma
Barber-Say syndrome
A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
ablepharon macrostomia syndrome
A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
poikiloderma with neutropenia
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.
poikiloderma with neutropenia, Clericuzio type
Kufor-Rakeb syndrome
An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
autosomal recessive Parkinson disease 9
autosomal recessive juvenile onset Parkinson disease 9
ataxia-oculomotor apraxia 3
An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.
ataxia with oculomotor apraxia type 3
lethal congenital contracture syndrome
A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
lethal congenital contracture syndrome 1
A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.
LCCS1
multiple contracture syndrome, Finnish type
lethal congenital contracture syndrome 2
A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.
LCCS2
multiple contracture syndrome, Israeli-Bedouin type
obsolete DMD-related dilated cardiomyopathy
A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene.
anomalous left coronary artery from the pulmonary artery
A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.
ALCAPA
Bland-White-Garland syndrome
White-Garland syndrome
coronary artery anomaly
Congenital anomaly of coronary artery
Coronary artery abnormality
Coronary artery anomaly, congenital
Char syndrome
A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
patent ductus arteriosus
Patent ductus Botalli
ductus arteriosus, Patent
Ritscher-Schinzel syndrome
A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
CCC dysplasia
craniocerebellocardiac dysplasia
Holzgreve-Wagner-Rehder Syndrome
A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
Holzgreve Wagner Rehder Syndrome
Holzgreve syndrome
erythema elevatum diutinum
A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks.
hypertrichotic osteochondrodysplasia Cantu type
An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.
Cantu syndrome
cardiac tuberculosis
A tuberculosis located in the heart.
cardiovascular tuberculosis
Ritscher-Schinzel syndrome 1
A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
Ritscher-Schinzel syndrome 2
A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.
von Willebrand's disease 1
A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
VWD type 1
VWD1
von Willebrand disease type 1
von Willebrand disease type I
von Willebrand's disease
A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
vascular hemophilia
vascular pseudohemophilia
von Willebrand disease
von Willebrand disorder
von Willebrand's-Jurgens' disease
von Willebrand-Jrgens disease
von Willebrand's disease 2
A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
VWD type 2
VWD2
von Willebrand disease type 2
von Willebrand disease type II
3MC syndrome 1
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
3MC syndrome 2
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
3MC syndrome 3
A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
Noonan syndrome 1
A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
NS1
Noonan syndrome
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Turner's phenotype, karyotype normal
Noonan syndrome 2
A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11.
NS2
Noonan syndrome 3
A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.
NS3
Noonan syndrome 4
A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.
NS4
Noonan syndrome 5
A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.
NS5
Noonan syndrome 6
A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
NS6
Noonan syndrome 7
A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.
NS7
Noonan syndrome 8
A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22.
NS8
Noonan syndrome 9
A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.
NS9
Noonan syndrome 10
A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.
NS10
Yunis-Varon syndrome
A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
cleidocranial dysplasia-micrognathia-absent thumbs syndrome
XFE progeroid syndrome
A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.
XFEPS
XPF-ERCC1 progeroid syndrome
WHIM syndrome 1
An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
WHIMS
warts, hypogammaglobulinemia, infections, and myelokathexis
warts-hypogammaglobulinemia-infections-myelokathexis syndrome
B-cell adult acute lymphocytic leukemia
An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
B-cell adult acute lymphocytic leukaemia
adult B acute lymphoblastic leukaemia
adult B acute lymphoblastic leukemia
adult B-lymphoblastic leukaemia
adult B-lymphoblastic leukemia
adult b-cell acute lymphoblastic leukaemia
adult b-cell acute lymphoblastic leukemia
adult b-cell lymphocytic leukaemia
adult b-cell lymphocytic leukemia
adult acute lymphocytic leukemia
An acute lymphocytic leukemia occurring during adulthood.
adult ALL
adult acute lymphoid Leukemia
atypical chronic myeloid leukemia, BCR-ABL1 negative
A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
aCML
atypical CML
atypical chronic myeloid leukaemia
atypical chronic myeloid leukaemia BCR-ABL1 negative
atypical chronic myeloid leukemia BCR-ABL1 negative
subacute myeloid leukemia
Nance-Horan syndrome
A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
alpha-2-plasmin inhibitor deficiency
A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.
antiplasmin defiency
plasmin inhibitor deficiency
hemorrhagic disease
Hemorrhagic diathesis
alpha-methylacyl-CoA racemase deficiency
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
AMACR deficiency
isolated anhidrosis with normal sweat glands
An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.
Dann-Epstein-Sohar syndrome
anhidrosis
A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
Adiaphoresis
absence of sweating
ankyloglossia
A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.
tongue-tie
tongue disease
A mouth disease located_in the tongue.
obsolete anterior segment mesenchymal dysgenesis
An eye disease that is characterized by impaired development of the anterior segment of the eye.
fetal nicotine spectrum disorder
A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.
microcephalic osteodysplastic primordial dwarfism type I
An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
Taybi-Linder syndrome
brachymelic primordial dwarfism
cephaloskeletal dysplasia
low-birth-weight dwarfism with skeletal dysplasia
osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
Majewski osteodysplastic primordial dwarfism type II
osteodysplastic primordial dwarfism type II
megacystis-microcolon-intestinal hypoperistalsis syndrome
A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
Berdon syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
visceral myopathy
abdominal obesity-metabolic syndrome
A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.
abdominal obesity-metabolic syndrome 3
An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13.
X-linked cleft palate with or without ankyloglossia
A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21.
X-linked cleft palate and ankyloglossia
cleft palate
An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Palatoschisis
ulnar-mammary syndrome
A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
Pallister ulnar-mammary syndrome
Schinzel syndrome
neonatal diabetes mellitus with congenital hypothyroidism
A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.
NDH syndrome
permanent neonatal diabetes mellitus
A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
PDMI
PNDM
permanent diabetes mellitus of infancy
ethylmalonic encephalopathy
A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
endocrine-cerebro-osteodysplasia syndrome
A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
ECO syndrome
recessive dystrophic epidermolysis bullosa
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
RDEB, Hallopeau-Siemens type
autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
severe generalized RDEB
severe generalized recessive dystrophic epidermolysis bullosa
epidermolysis bullosa dystrophica
An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
Dystrophic epidermolysis bullosa
primary sclerosing cholangitis
A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
sclerosing cholangitis
fibrosing cholangitis
chondrodysplasia-pseudohermaphroditism syndrome
A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
Nivelon-Nivelon-Mabille syndrome
chondrodysplasia-disorder of sex development syndrome
chronic recurrent multifocal osteomyelitis
An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
CRMO
chronic multifocal osteomyelitis
osteomyelitis
A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
congenital chylothorax
A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.
pleural disease
A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
disorder of pleura
non-neoplastic pleural disease
fetal encasement syndrome
A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.
cocoon syndrome
congenital hereditary endothelial dystrophy of cornea
A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
CHED
dicarboxylic aminoaciduria
An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids.
glutamate-aspartate transport defect
MYH-9 related disease
A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
familial erythrocytosis 1
A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
ECYT1
autosomal dominant benign erythrocytosis
primary familial and congenital polycythemia
lethal congenital contracture syndrome 3
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
Israeli Bedouin type B multiple contracture syndrome
lethal congenital contracture syndrome 4
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
autosomal recessive congenital ichthyosis
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
ARCI
lamellar ichthyosis
non bullous congenital ichthyosiform erythroderma
ichthyosis
A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.
ichthyoses
non-syndromic ichthyosis
autosomal recessive congenital ichthyosis 1
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
ARCI1
bathing suit ichthyosis
anencephaly
A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
cerebral cavernous malformation
A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
cavernous angiomatous malformations
cerebral capillary malformations
familial cavernous angioma
cerebral cavernous malformation 2
A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13.
cerebral cavernous malformation 3
A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1.
frontotemporal dementia 2
A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Peters anomaly
A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
catecholaminergic polymorphic ventricular tachycardia
A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.
catecholaminergic polymorphic ventricular tachycardia 1
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.
CVPT1
arrhythmogenic right ventricular dysplasia 2
catecholaminergic polymorphic ventricular tachycardia 2
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.
CVPT2
catecholaminergic polymorphic ventricular tachycardia 3
A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14.
CVPT3
catecholaminergic polymorphic ventricular tachycardia 4
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32.
CVPT4
catecholaminergic polymorphic ventricular tachycardia 5
A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.
CVPT5
pigment dispersion syndrome
An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.
glaucoma-related pigment dispersion syndrome
pigment-dispersion type glaucoma
autosomal dominant nocturnal frontal lobe epilepsy
A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.
ENFL
frontal lobe epilepsy
A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain.
autosomal dominant nocturnal frontal lobe epilepsy 1
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.
ENFL1
nocturnal frontal lobe epilepsy 1
autosomal dominant nocturnal frontal lobe epilepsy 2
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24.
ENFL2
nocturnal frontal lobe epilepsy 2
autosomal dominant nocturnal frontal lobe epilepsy 3
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.
ENFL3
nocturnal frontal lobe epilepsy 3
autosomal dominant nocturnal frontal lobe epilepsy 4
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.
ENFL4
benign familial infantile seizures 6
nocturnal frontal lobe epilepsy 4
autosomal dominant nocturnal frontal lobe epilepsy 5
An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
ENFL5
nocturnal frontal lobe epilepsy 5
arteriovenous malformations of the brain
A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.
cerebral arteriovenous malformation
intracranial arteriovenous malformation
hemangioma
A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.
atrichia with papular lesions
An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.
papular atrichia
autosomal dominant auditory neuropathy 1
An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.
AUNA1
NSDAN
nonsyndromic dominant auditory neuropathy
platelet-type bleeding disorder 16
A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
autosomal dominant Glanzmann thrombasthenia
autosomal dominant thrombasthenia of Glanzmann and Naegeli
platelet-type bleeding disorder 8
A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
ADP platelet receptor P2Y12 defect
P2Y12 defect
Brunner Syndrome
An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.
monoamine oxidase A deficiency
Cayman type cerebellar ataxia
An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
Cayman cerebellar ataxia
hyperekplexia
A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
Kok disease
congenital stiff man syndrome
familial startle disease
hereditary hyperekplexia
startle disease
hyperekplexia 1
A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
HKPX1
hyperekplexia 2
A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
HKPX2
hyperekplexia 3
A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
HKPX3
familial hypocalciuric hypercalcemia
A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.
FBH
FBHH
FHH
familial benign hypercalcemia
familial benign hypocalciuric hypercalcemia
hypercalcemia
familial hypocalciuric hypercalcemia 1
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
FHH type 1
HHC1
familial benign hypercalcemia 1
familial hypocalciuric hypercalcemia type I
hypocalciuric hypercalcemia type I
familial hypocalciuric hypercalcemia 2
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.
FHH type 2
HHC2
familial hypocalciuric hypercalcemia type 2
hypocalciuric hypercalcemia type II
familial hypocalciuric hypercalcemia 3
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
FHH type 3
HHC3
familial hypocalciuric hypercalcemia type 3
hypocalciuric hypercalcemia type III
Muenke Syndrome
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
FGFR3-related craniosynostosis
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
craniosynostosis
A synostosis that results_in premature fusion located_in skull.
Premature closure of cranial sutures
lymphoproliferative syndrome
A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.
Combined immunodeficiency due to ITK deficiency
X-linked lymphoproliferative syndrome 1
A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.
XLP1
X-linked lymphoproliferative syndrome 2
A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
XIAP deficiency
XLP2
lymphoproliferative syndrome 1
A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
LPFS1
lymphoproliferative syndrome 2
A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.
CD27 deficiency
LPFS2
autosomal recessive congenital ichthyosis 2
An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
ARCI2
BROCQ congenital ichthyosiform erythroderma nonbullous form
NCIE1
nonbullous congenital ichthyosiform erythroderma 1
autosomal recessive congenital ichthyosis 3
An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.
ARCI3
lamellar ichthyosis 5
autosomal recessive congenital ichthyosis 4A
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
ARCI4A
ICR2B
ichthyosis congenita IIB
lamellar ichthyosis 2
autosomal recessive congenital ichthyosis 4B
An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
ARCI4B
harlequin ichthyosis
harlequin type ichthyosis congenita
harlequin type ichthyosis fetalis
autosomal recessive congenital ichthyosis 5
An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
ARCI5
autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
autosomal recessive congenital ichthyosis 6
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
ARCI6
autosomal recessive congenital ichthyosis 7
An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1.
ARCI7
autosomal recessive congenital ichthyosis 8
An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
ARCI8
lamellar ichthyosis 4
late-onset lamellar ichthyosis
autosomal recessive congenital ichthyosis 9
An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
ARCI9
autosomal recessive congenital ichthyosis 10
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
ARCI10
autosomal recessive congenital ichthyosis 11
An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
IFAH syndrome
IHS
autosomal recessive ichthyosis with hypotrichosis
hypotrichosis-congenital ichthyosis syndrome
ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
ichthyosis-follicular atrophoderma-hypotrichosis syndrome
ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
ichthyosis-hypotrichosis syndrome
congenital disorder of deglycosylation 1
A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24.
NGLY1-CDDG
NGLY1-deficiency
congenital disorder of glycosylation type Iv
deficiency of N-glycanase 1
congenital disorder of deglycosylation
A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins.
torsion dystonia 1
A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.
dystonia musculorum deformans
congenital central hypoventilation syndrome
An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
CCHS
Ondine curse
Ondine syndrome
central congenital hypoventilation syndrome
congenital central alveolar hypoventilation syndrome
autonomic nervous system disease
A peripheral nervous system disease that is located_in the autonomic nervous system.
autonomic nervous system disorder
chromosome 9p deletion syndrome
A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
9p syndrome
Alfi syndrome
monosomy 9p syndrome
junctional epidermolysis bullosa with pyloric atresia
A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.
Carmi syndrome
JEB-PA
epidermolysis bullosa junctionalis with pyloric atresia
junctional epidermolysis bullosa-pyloric atresia syndrome
junctional epidermolysis bullosa
An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
congenital junctional epidermolysis bullosa
generalized severe epidermolysis bullosa simplex 1A
An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
EBS-gen sev
EBSDM
epidermolysis bullosa herpetiformis Dowling-Meara type
epidermolysis bullosa simplex Dowling-Meara type
epidermolysis bullosa simplex, herpetiformis
generalized severe epidermolysis bullosa simplex
epidermolysis bullosa simplex
An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
epidermolysis bullosa simplex 5A Ogna type
An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
EBS-O
EBS-Og
EBSOG
epidermolysis bullosa simplex Ogna type
junctional epidermolysis bullosa Herlitz type
A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
Herlitz type epidermolysis bullosa junctionalis
Herlitz-Pearson-type epidermolysis bullosa
JEB-H
JEB-Herlitz type
epidermolysis bullosa letalis
junctional epidermolysis bullosa generalisata gravis
junctional epidermolysis bullosa, Herlitz-Pearson type
junctional epidermolysis bullosa non-Herlitz type
A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.
GABEB
JEB-nH gen
JEN-nH
generalized atrophic benign epidermolysis bullosa
generalized junctional epidermolysis bullosa, non-Herlitz type
junctional epidermolysis bullosa generalisata mitis
junctional epidermolysis bullosa, Disentis type
hand-foot-genital syndrome
A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
HFGS
hand-foot-uterus syndrome
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
methylmalonic aciduria mut type
vitamin B12-unresponsive methylmalonic aciduria
methylmalonic acidemia due to transcobalamin receptor defect
A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
methylmalonic acidemia, TCblR type
methylmalonic aciduria due to transcobalamin receptor defect
methylmalonic acidemia cblA type
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
methylmalonic aciduria cblA type
methylmalonic aciduria of the cblA complementation type
methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
methylmalonic acidemia cblB type
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
methylmalonic aciduria cblB type
methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Pendred Syndrome
A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
TDH2B
congenital hypothyroidism due to dyshormonogenesis 2B
deafness with goiter
genetic defect in thyroid hormonogenesis 2B
goiter-deafness syndrome
thyroid dyshormonogenesis 2B
Doyne honeycomb retinal dystrophy
A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16.
DHRD
Doyne honeycomb degeneration of retina
retinal drusen
basal laminar drusen
A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.
cuticular drusen
drusen of bruch membrane
early adult-onset grouped drusen
Duane-radial ray syndrome
A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
DR syndrome
Duane anomaly with radial ray abnormalities and deafness
Okihiro syndrome
acrorenocular syndrome
familial temporal lobe epilepsy 1
A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.
ETL1
partial epilepsy with auditory features
temporal lobe epilepsy
A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.
epilepsy, temporal lobe
familial temporal lobe epilepsy 6
A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.
ETL6
familial temporal lobe epilepsy 3
A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.
FMTLE
familial mesial temporal lobe epilepsy
familial temporal lobe epilepsy 7
A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.
ETL7
familial temporal lobe epilepsy 5
A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.
ETL5
familial temporal lobe epilepsy 4
A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.
EPOLM
ETL4
occipitotemporal lobe epilepsy and migraine with aura
familial temporal lobe epilepsy 8
A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13.
ETL8
familial temporal lobe epilepsy 2
A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3.
ETL2
sclerosteosis 1
A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.
SOST1
SOST-related sclerosing bone dysplasia
A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
van Buchem disease
sclerosteosis 2
A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.
SOST2
immunodeficiency with hyper-IgM type 2
A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
AID deficiency
HIGM2
activation-induced cytidine deaminase deficiency
hyper-IgM syndrome type 2
immunodeficiency with hyper IgM type 5
A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
HIGM5
hyper-IgM syndrome 5
hyper-IgM syndrome due to UNG deficiency
hyper-IgM syndrome due to uracil N-glycosylase
immunodeficiency with hyper-IgM type 4
A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
HIGM4
hyper-IgM syndrome type 4
familial chronic myelocytic leukemia-like syndrome
A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
familial CML-like syndrome
chronic myeloid leukemia
A myeloid leukemia that is characterized by over production of white blood cells.
CML
CML - chronic Myelogenous Leukemia
Myeloid Leukemia, chronic
chronic granulocytic leukaemia
chronic granulocytic leukemia
chronic myelogenous leukaemia
chronic myelogenous leukemia
chronic myeloid leukaemia
restrictive dermopathy
A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.
Infantile restrictive dermopathy
Lethal tight skin contracture syndrome
hyperkeratosis-contracture syndrome
lethal restrictive dermopathy
tight skin contracture syndrome
X-linked juvenile retinoschisis 1
A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.
X-linked juvenile retinoschisis
X-linked retinoschisis
XLRS
retinoschisis
autosomal recessive Robinow syndrome
A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
COVESDEM syndrome
RRS
costovertebral segmentation defect-mesomelia syndrome
autosomal dominant Robinow syndrome 2
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
DRS2
autosomal dominant Robinow syndrome 1
A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
DRS1
autosomal dominant Robinow syndrome 3
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.
DRS3
Smith-Magenis syndrome
A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
17p11.2 microdeletion syndrome
chromosome 17p11.2 deletion syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
alymphoid cystic thymic dysgenesis
severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
winged helix deficiency
dextro-looped transposition of the great arteries
A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.
D-TGA
DTGA1
congenitally uncorrected transposition of the great arteries
congenitally uncorrected transposition of the great vessels
isolated ventriculoarterial discordance
ventriculoarterial discordance with atrioventricular concordance
obsolete dextro-looped transposition of the great arteries 1
A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24.
multiple types of congenital heart defects 6
A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13.
DTGA3
dextro-looped transposition of the great arteries 3
cleft lip-palate-ectodermal dysplasia syndrome
A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.
CLPED1
Margarita type of ectodermal dysplasia
Zlotogora-Zilberman-Tenenbaum syndrome
cleft lip/palate-syndactyly-pili torti syndrome
syndactyly-ectodermal dysplasia-cleft/lip palate
congenital diarrhea
A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.
microvillus inclusion disease
A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.
Davidson disease
MVD
congenital familial protracted diarrhea with enterocyte brush-border abnormalities
congenital microvillus atrophy
diarrhea 2 with microvillus atrophy
intractable diarrhea of infancy
congenital diarrhea 5 with tufting enteropathy
A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21.
DIAR5
congenital diarrhoea 5 with tufting enteropathy
congenital familial intractable diarrhea with epithelial or epithelium abnormalities
congenital familial intractable diarrhoea with epithelial or epithelium abnormalities
congenital tufting enteropathy
tufting enteropathy
congenital secretory sodium diarrhea 8
A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.
DIAR8
congenital diarrhea 7 with exudative enteropathy
A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24.
congenital chronic diarrhea with exudative enteropathy
congenital chronic diarrhea with protein-losing enteropathy
congenital chronic diarrhoea with exudative enteropathy
congenital chronic diarrhoea with protein-losing enteropathy
congenital diarrhoea 7 with exudative enteropathy
congenital malabsorptive diarrhea 4
A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.
congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency
congenital malabsorptive diarrhoea 4
congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
enteric anendocrinosis
congenital diarrhea 6
A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12.
chronic diarrhea due to guanylate cyclase 2C overactivity
chronic diarrhoea due to guanylate cyclase 2C overactivity
congenital diarrhoea 6
congenital secretory sodium diarrhea 3
A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.
congenital secretory sodium diarrhea 3 syndromic
congenital secretory sodium diarrhea 3 with or without other congenital anomalies
congenital secretory sodium diarrhoea 3
congenital secretory sodium diarrhoea 3 syndromic
congenital secretory sodium diarrhoea 3 with or without other congenital anomalies
EEC syndrome
A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
Rudiger syndrome 1
Walker-Clodius syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome
ectrodactyly-ectodermal dysplasia-clefting syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
EEC syndrome 3
EEC3
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
EEC syndrome 1
EEC1
typical adult-onset autosomal dominant demyelinating leukodystrophy
An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.
ADLD
adult-onset autosomal dominant leukodystrophy
autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
hypomyelinating leukodystrophy
A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.
HLD
hypomyelinating leukodystrophy 2
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.
HLD2
PMLD1
Pelizaeus-Merzbacher-like disease 1
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
hypomyelinating leukodystrophy 10
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.
HLD10
hypomyelinating leukodystrophy 4
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.
HLD4
MitCHAP60 disease
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
mitochondrial HSP60 chaperonopathy
hypomyelinating leukodystrophy 3
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.
HLD3
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
hypomyelinating leukodystrophy 9
A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.
HLD9
RARS-related autosomal recessive hypomyelinating leukodystrophy
hypomyelinating leukodystrophy 11
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
HLD11
hypomyelinating leukodystrophy 5
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
HLD5
hypomyelination-congenital cataract syndrome
hypomyelinating leukodystrophy 7
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
HLD7
TACH syndrome
ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy
dentoleukoencephalopathy
hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
leukodystrophy with oligodontia
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
tremor-ataxia-central hypomyelination syndrome
hypomyelinating leukodystrophy 13
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.
HLD13
hypomyelinating leukodystrophy 12
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
HLD12
hypomyelinating leukodystrophy 8
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.
HLD8
hypomyelinating leukodystrophy 6
A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.
H-ABC
HABC
HLD6
hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
hypomyelination with atrophy of basal ganglia and cerebellum
syndromic X-linked intellectual disability Lubs type
A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
Lubs X-linked mental retardation syndrome
MECP2 duplication syndrome
MRXSL
X-linked intellectual disability-hypotonia-recurrent Infections syndrome
mental retardation, X-linked, syndromic, Lubs type
mental retardation, X-linked, with recurrent respiratory infections
syndromic X-linked intellectual disability 5
A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
Fried syndrome
MRX59
MRXS21
Mental retardation, X-linked syndromic 5
Pettigrew syndrome
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked mental retardation 59
X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
syndromic X-linked mental retardation 21
syndromic X-linked mental retardation Fried type
MEHMO syndrome
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.
MRXS20
MRXS25
X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
syndromic X-linked mental retardation 20
syndromic X-linked mental retardation 25
syndromic X-linked intellectual disability Snyder type
A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.
SRS
Snyder-Robinson mental retardation syndrome
Snyder-Robinson syndrome
mental retardation, X-linked, Snyder-Robinson type
spermine synthase deficiency
syndromic X-linked intellectual disability 17
A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.
X-linked mental retardation with alacrima and achalasia
intellectual disability-alacrima-achalasia syndrome
mental retardation, X-linked, syndromic 17
syndromic X-linked intellectual disability 12
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11.
X-linked intellectual disability, Wilson type
mental retardation, X-linked, syndromic 12
Prieto syndrome
A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11.
Prieto-Badia-Mulas syndrome
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
syndromic X-linked intellectual disability Hedera type
A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
MRXE
MRXSH
X-linked mental retardation with epilepsy
mental retardation, X-linked, syndromic, Hedera type
syndromic X-linked intellectual disability Najm type
A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
mental retardation and microcephaly with pontine and cerebellar hypoplasia
syndromic X-linked intellectual disability 7
A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22.
MRXS7
X-linked intellectual disability, Ahmad type
mental retardation, X-linked syndromic 7
syndromic X-linked intellectual disability Claes-Jensen type
A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.
MRXSCJ
MRXSJ
mental retardation, X-linked, syndromic, Claes-Jensen type
syndromic X-linked intellectual disability due to JARID1C mutation
syndromic X-linked mental retardation JARID1C-related
syndromic X-linked intellectual disability type 10
A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
HSD10 deficiency, atypical type
HSD10 disease, atypical type
MRXS10
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
mental retardation, X-linked syndromic 10
syndromic X-linked intellectual disability Turner type
A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.
Brooks-Wisniewski-Brown syndrome
MRXST
X-linked intellectual disability, Brooks type
mental retardation and macrocephaly syndrome
mental retardation, X-linked syndromic, Turner type
syndromic X-linked intellectual disability Siderius type
A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.
MRXSSD
Siderius X-linked mental retardation syndrome
Siderius-Hamel syndrome
mental retardation syndrome, X-linked, Siderius type
syndromic X-linked intellectual disability Shrimpton type
A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31.
MRXS9
mental retardation, X-linked, syndromic 9
Wilson-Turner syndrome
A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.
MRXS6
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
mental retardation, X-linked, syndromic 6
mental retardation, X-linked, with gynecomastia and obesity
Wieacker-Wolff syndrome
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.
MCS
MRXS4
Miles-Carpenter syndrome
WRWF
X-linked intellectual disability, Miles-Carpenter type
mental retardation, X-linked, syndromic 4
mental retardation, X-linked, with congenital contractures and low fingertip arches
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.
Graham-Cox syndrome
MRXS28
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
mental retardation, X-linked, syndromic 28
syndromic X-linked intellectual disability 34
A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13.
MRXS34
MRXSML
macrocephaly-intellectual disability-left ventricular non compaction syndrome
mental retardation, X-linked, syndromic 34
syndromic X-linked mental retardation Mircsof-Langouet type
syndromic X-linked intellectual disability Abidi type
A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2.
MRXSAB
mental retardation, X-linked syndromic, Abidi type
syndromic X-linked mental retardation Abidi type
syndromic X-linked intellectual disability Chudley-Schwartz type
A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.
MRXSCS
X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
mental retardation, X-linked, syndromic, Chudley-Schwartz type
syndromic X-linked intellectual disability Nascimento type
A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.
X-linked intellectual disability-nail dystrophy-seizures syndrome
mental retardation, X-linked syndromic, Nascimento-type
syndromic X-linked intellectual disability 14
A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.
mental retardation, X-linked, syndromic 14
syndromic X-linked intellectual disability Cabezas type
A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24.
Cabezas syndrome; syndromic X-linked mental retardation 15
MRSS
MRXS15
MRXSC
X-linked mental retardation with short stature
X-linked mental retardation with short stature, hypogonadism, and abnormal gait
mental retardation, X-linked, syndromic 15
mental retardation, X-linked, syndromic 15 (Cabezas type)
syndromic X-linked intellectual disability 94
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
MRX94
MRXS29
mental retardation, X-linked 94
syndromic X-linked intellectual disability due to GRIA3 anomalies
syndromic X-linked mental retardation 29
syndromic X-linked mental retardation Wu type
syndromic X-linked intellectual disability Raymond type
A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.
MRXSR
X-linked syndromic intellectual developmental disorder Raymond type
mental retardation, X-linked syndromic, Raymond type
Christianson syndrome
A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.
Christianson type of X-linked syndromic intellectual developmental disorder
MRXSCH
X-linked Angelman-like syndrome
X-linked intellectual disability, South African type
X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
mental retardation, X-linked syndromic, Christianson type
mental retardation, microcephaly, epilepsy, and ataxia syndrome
syndromic X-linked intellectual disability Shashi type
A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.
MRXS11
SMRXS
Shashi X-linked mental retardation syndrome
Shashi type of X-linked syndromic intellectual developmental disorder
X-linked mental retardation Shashi type
mental retardation, X-linked, syndromic 11, Shashi type
syndromic X-linked intellectual disability type 11
X-linked intellectual disability-psychosis-macroorchidism syndrome
A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
Lindsay-Burn syndrome
MRXS13
PPM-X
X-linked mental retardation 79
X-linked mental retardation with spasticity
mental retardation with psychosis, pyramidal signs, and macroorchidism
mental retardation, X-linked, syndromic 13
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28.
MRXS32
mental retardation, X-linked, syndromic 32
obsolete Brooks-Wisniewski-Brown syndrome
A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome.
deafness-intellectual disability, Martin-Probst type syndrome
A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.
Martin-Probst syndrome
mental retardation, X-linked, syndromic, Martin-Probst type
Griscelli syndrome
An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.
Chediak-Higashi-like syndrome
Griscelli-Prunieras syndrome
partial albinism-immunodeficiency syndrome
Griscelli syndrome type 1
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.
GS1
Griscelli syndrome with neurological impairment
Griscelli syndrome, cutaneous and neurological type
Griscelli-Prunieras syndrome type 1
hypopigmentation-neurologic impairment syndrome
Griscelli syndrome type 2
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
GS2
Griscelli syndrome with hemophagocytic syndrome
Griscelli-Prunieras syndrome type 2
PAID syndrome
hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
partial albinism and immunodeficiency syndrome
Griscelli syndrome type 3
A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes.
GS3
Griscelli-Prunieras syndrome type 3
isolated microphthalmia 6
An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
MCOP6
posterior nonsyndromic microphthalmia
isolated microphthalmia
A microphthalmia that occurs by itself.
isolated microphthalmia 4
An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
MCOP4
isolated microphthalmia 5
An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.
MCOP5
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
isolated microphthalmia 7
An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.
MCOP7
isolated microphthalmia 2
An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.
MCOP2
isolated microphthalmia 1
An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32.
MCOP1
isolated microphthalmia 8
An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
MCOP8
syndromic microphthalmia 16
An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21.
MCOP3
isolated microphthalmia 3
syndromic microphthalmia
A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body.
hereditary neuropathy with liability to pressure palsies
A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12.
HNPP
current pressure-sensitive neuropathy
familial recurrent polyneuropathy
heterozygous microdeletion 17p11.2p12
potato-grubbing palsy
tomaculous neuropathy
tulip-bulb digger's palsy
Norrie disease
A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
Episkopi blindness
Norrie-Warburg disease
atrophia bulborum hereditaria
Leri-Weill dyschondrosteosis
An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
developmental and epileptic encephalopathy 9
A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.
DEE9
EFMR
EIEE9
Juberg Hellman syndrome
early infantile epileptic encephalopathy 9
early infantile female-limited epilecptic encephalopathy
female restricted epilepsy with mental retardation
osteoporosis-pseudoglioma syndrome
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
OPPG
ocular form of osteogenesis imperfecta
annular pancreas
A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.
pemphigus vulgaris
A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.
familial pemphigus vulgaris
Pierson syndrome
A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
microcoria-congenital nephrosis syndrome
Potocki-Lupski syndrome
A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.
17p11.2 microduplication syndrome
chromosome 17p11.2 duplication syndrome
trisomy 17p11.2
autosomal recessive pseudohypoaldosteronism type 1
A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.
PHA1B
autosomal recessive PHA 1
pseudohypoaldosteronism
autosomal dominant pseudohypoaldosteronism type 1
A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.
PHA1A
autosomal dominant PHA 1
right atrial isomerism
A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.
Ivemark syndrome
asplenia with cardiovascular anomalies
septooptic dysplasia
A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14.
De Morsier syndrome
SOD
septo-optic dysplasia
hypotonia-cystinuria syndrome
A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
cystinuria with mitochondrial disease
salmonellosis
A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment.
Salmonella infection
microphthalmia with limb anomalies
A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
MLA
OAS
Waardenburg anophthalmia syndrome
anophthalmia-syndactyly syndrome
ophthalmoacromelic syndrome
mal de Meleda
A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
MDM
Meleda disease
PPK, Gamborg-Nielsen type
PPKGN
PPKNR
keratosis palmoplantaris transgrediens of Siemens
palmoplantar keratoderma, Gamborg-Nielsen type
palmoplantar keratoderma, Norrbotten type
transgrediens palmoplantar keratoderma of Siemens
patterned macular dystrophy
A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
patterned dystrophy of retinal pigment epithelium
patterned macular dystrophy 2
A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.
MDPT2
butterfly-shaped pigmentary maculary dystrophy 2
patterned macular dystrophy 3
A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.
MDPT3
Martinique crinkled retinal pigment epitheliopathy
patterned macular dystrophy 1
A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21.
MDPT1
butterfly-shaped pigmentary maculary dystrophy 1
macrocephaly-autism syndrome
A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.
macrocephaly-intellectual disability-autism syndrome
leukoencephalopathy with vanishing white matter
A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood.
CACH
CACH/VWM
childhood ataxia with central nervous system hypomyelination
vanishing white matter leukodystrophy
ovarioleukodystrophy
late-onset retinal degeneration
A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.
LORD
autosomal dominant late-onset retinal degeneration
isolated growth hormone deficiency
A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
IGHD
congenital IGHD
congenital isolated GH deficiency
congenital isolated growth hormone deficiency
familial isolated growth hormone deficiency
non-acquired isolated growth hormone deficiency
hypopituitarism
A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
Pituitary insufficiency
pituitary hormone deficiency
Pituitary hypofunction
autosomal dominant keratitis-ichthyosis-deafness syndrome
A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.
autosomal dominant KID syndrome
isolated growth hormone deficiency type II
An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.
IGHD II
autosomal dominant isolated growth hormone deficiency
autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
congenital IGHD type II
congenital isolated GH deficiency type II
congenital isolated growth hormone deficiency type II
isolated growth hormone deficiency type IA
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.
IGHD IA
Illig-type growth hormone deficiency
autosomal recessive isolated growth hormone deficiency
pituitary dwarfism I
primordial dwarfism
sexual ateleiotic dwarfism
isolated growth hormone deficiency type IB
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
IGHD IB
congenital IGHD type IB
congenital isolated GH deficiency type IB
congenital isolated growth hormone deficiency type IB
dwarfism of Sindh
isolated growth hormone deficiency type III
An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.
Fleisher syndrome
IGHD III
X-linked IGHD
X-linked agammaglobulinemia and isolated growth hormone deficiency
X-linked hypogammaglobulinemia and isolated growth hormone deficiency
X-linked isolated growth hormone deficiency
congenital IGHD type III
congenital isolated GH deficiency type III
congenital isolated growth hormone deficiency type III
growth hormone deficiency with hypogammaglobulinemia
bullous congenital ichthyosiform erythroderma
An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
bullous type ichthyosis
ichthyosis bullosa of Siemens
superficial epidermolytic ichthyosis
hypoparathyroidism-deafness-renal disease syndrome
A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
Barakat syndrome
HDR syndrome
hypoparathyroidism, sensorineural deafness, and renal disease
primary hypomagnesemia
A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.
HOMG
primary familial hypomagnesemia
renal hypomagnesemia 3
A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.
FHHNC without severe ocular involvement
HOMG3
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
isolated renal hypomagnesemia
primary hypomagnesemia due to defect in renal tubular transport of magnesium
renal hypomagnesemia type 3
renal hypomagnesemia 5 with ocular involvement
A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.
FHHNC with severe ocular involvement
Meier-Blumberg-Imahorn syndrome
bilateral macular coloboma with hypercalciuria
familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement
hypercalciuria-bilateral macular coloboma syndrome
renal hypomagnesemia 4
A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25.
HOMG4
intestinal hypomagnesemia 1
A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.
HOMG1
hypomagnesemia caused by selective magnesium malabsorption
hypomagnesemia intestinal type 1
hypomagnesemic tetany
intestinal hypomagnesemia with secondary hypocalcemia
primary hypomagnesemia with secondary hypocalcemia
renal hypomagnesemia 6
A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24.
HOMG6
renal hypomagnesemia 2
A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23.
HOMG2
autosomal dominant primary hypomagnesemia with hypocalciuria
osteopathia striata with cranial sclerosis
An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11.
Robinow-Unger syndrome
hyperostosis generalisata with striations
osteosclerosis
A bone remodeling disease that results_in abnormal elevated bone density or mass.
ossification of the posterior longitudinal ligament of spine
A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.
OPLL
transient myeloproliferative syndrome
A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.
MST
TAM
transient abnormal myelopoiesis
transient leukemia
transient leukemia of Down syndrome
transient myeloproliferative disease
myeloproliferative neoplasm
A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
CMPD
CMPD, U
chronic myeloproliferative disease
prune belly syndrome
A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.
Eagle-Barrett syndrome
Obrinsky syndrome
abdominal muscle deficiency syndrome
triad syndrome
ectopic Cushing syndrome
A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone.
Cushing syndrome due to ectopic ACTH secretion
ectopic ACTH secreting tumor
primary hyperaldosteronism
An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
Cushing syndrome
Cushing's syndrome
hyperaldosteronism
Parkinson's disease 19A
An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
juvenile onset Parkinson disease 19A
juvenile onset Parkinson's disease 19A
juvenile-onset Parkinson's disease
An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age.
juvenile-onset Parkinson disease
Parkinson's disease 4
A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
autosomal dominant Lewy body Parkinson disease 4
autosomal dominant Parkinson disease 4
autosomal dominant Parkinson's disease 4
Parkinson's disease 23
An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
autosomal recessive early-onset Parkinson disease 23
autosomal recessive early-onset Parkinson's disease 23
Parkinson's disease 17
A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.
Parkinson disease 17
autosomal dominant Parkinson disease 17
Parkinson's disease 20
An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22.
early-onset Parkinson disease 20
early-onset Parkinson's disease 20
Parkinson's disease 14
A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13.
Dystonia-Parkinsonism Adult-Onset
autosomal recessive Parkinson disease 14
autosomal recessive Parkinson's disease 14
Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia.
lymphoplasmacytic lymphoma
A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
Waldenstroem's macroglobulinemia
Waldenstrom Macroglobulinemia
lymphoplasmacytic lymphoma with IgM gammopathy
Norman-Roberts syndrome
A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
lissencephaly 2
lissencephaly syndrome, Norman-Roberts type
thrombosis
A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.
legume allergy
A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.
Fabaceae allergy
karyomegalic interstitial nephritis
An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.
KIN
KMIN
interstitial nephritis
renal tubulo-interstitial disease
craniosynostosis 7
A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation.
CRS7
proteosome-associated autoinflammatory syndrome 2
A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12.
PRAAS2
proteosome-associated autoinflammatory syndrome 4
A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11.
PRAAS4
proteasome-associated autoinflammatory syndrome 3
A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.
PRAAS3
facioscapulohumeral muscular dystrophy 3
A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
FSHD3
facioscapulohumeral muscular dystrophy type 3
facioscapulohumeral muscular dystrophy
Landouzy Dejerine muscular dystrophy
Landouzy-Dejerine muscular dystrophy
Muscular dystrophy, Landouzy-Dejerine
facioscapulohumeral muscular dystrophy 4
A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
FSHD4
facioscapulohumeral muscular dystrophy type 4
proteosome-associated autoinflammatory syndrome 5
A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22.
PRAAS5
otosclerosis 1
An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1.
OTSC1
Xref MGI, ICD10 code updated to H80.
otosclerosis
An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.
otosclerosis 2
An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q.
OTSC2
otosclerosis 3
An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p.
OTSC3
otosclerosis 4
An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q.
OTSC4
otosclerosis 5
An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24.
OTSC5
otosclerosis 7
An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13.
OTSC7
otosclerosis 8
An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11.
OTSC8
otosclerosis 10
An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44.
OTSC10
otosclerosis 11
An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24.
OTSC11
non-syndromic X-linked intellectual developmental disorder 111
A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27.
XLID111
developmental dysplasia of the hip
A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum.
developmental dysplasia of the hip 1
A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22.
DDH1
developmental dysplasia of the hip 2
A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2.
DDH2
developmental delay, dysmorphic facies, and brain anomalies
An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13.
DEVDFB
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21.
NEDMEBA
infantile hypotonia with psychomotor retardation and characteristic facies-3
An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
IHPRF3
TBCK-related intellectual disability syndrome
dystonia 28, childhood-onset
A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13.
DYSTONIA 28, CHILDHOOD-ONSET
DYT28
dystonia 30
A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13.
DYT30
dystonia 31
A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22.
DYT31
ZECH-BOESCH SYNDROME
dystonia 32
A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
DYT32
dystonia 33
A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22.
interstitial lung disease 1
An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22.
Idiopathic pulmonary fibrosis
interstitial lung disease
A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
ILD
Ullrich congenital muscular dystrophy 1B
An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22.
Ullrich congenital muscular dystrophy 1C
An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37.
episodic kinesigenic dyskinesia 3
A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13.
amelogenesis imperfecta type 1K
An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21.
amelogenesis imperfecta
A dental enamel hypoplasia characterized by abnormal enamel formation.
Ullrich congenital muscular dystrophy 1A
An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.
autosomal recessive intellectual developmental disorder 82
An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.
Ullrich congenital muscular dystrophy 2
An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.
3-hydroxyisobutryl-CoA hydrolase deficiency
An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.
HIBCH deficiency
Methacrylic aciduria
Valine metabolic defect
hypervalinemia and hyperleucine-isoleucinemia
An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.
branched-chain aminotransferase 2 deficiency
polycystic kidney disease 6
An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27.
polycystic kidney disease 7
A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13.
ZTTK syndrome
A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22.
ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
Zhu-Tokita-Takenouchi-Kim syndrome
Holoprosencephaly 13, X-linked
A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25.
dystonia 35, childhood-onset
A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13.
dystonia 37, early-onset with striatal lesions
A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21.
myoclonic dystonia 34
A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22.
orofaciodigital syndrome XIV
An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13.
orofaciodigital syndrome II
An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33.
Mohr syndrome
Oral-facial-digital syndrome type 2
orofaciodigital syndrome XIX
An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21.
Oral-facial-digital syndrome type XIX
orofaciodigital syndrome XVIII
An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.
Oral-facial-digital syndrome type 18
Oral-facial-digital syndrome with short stature and brachymesophalangy
Orofaciodigital syndrome type 18
orofaciodigital syndrome XX
An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.
obsolete dystonia, DOPA-responsive
A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.
Autosomal dominant Segawa syndrome
DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT
DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION
DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
dopa-responsive dystonia
dystonia 5
Loeys-Dietz syndrome 6
A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21.
episodic ataxia type 9
An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23.
dystonia 22, juvenile-onset
A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22.
dystonia 22, adult-onset
A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene.
hypotrichosis 15
A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13.
hypotrichosis
A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
galactosemia 4
A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.
GALM deficiency
Galactose mutarotase deficiency
Galactosemia type 4
OMIM mapping by NeuroDevNet. [LS].
galactosemia
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Galactosaemia
Galactose intolerance
Cornelia de Lange syndrome 6
A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.
Cornelia de Lange syndrome
A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Brachmann de Lange syndrome
De Lange syndrome
interstitial lung disease 2
An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.
renal hypomagnesemia 7, with or without dilated cardiomyopathy
A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15.
WHIM syndrome 2
An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35.
WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2
autosomal recessive Robinow syndrome 2
A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13.
polycystic liver disease 2
A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21.
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
polycystic liver disease 3
A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14.
polycystic liver disease 4
A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.
Fanconi anemia complementation group W
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23.
Fanconi anemia
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Fanconi anaemia
Fanconi pancytopenia
Fanconi panmyelopathy
Fanconi's anaemia
Fanconi's anemia
Fanconi anemia complementation group S
A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21.
polycystic liver disease 1
A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13.
mosaic variegated aneuploidy syndrome 4
A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23.
MVA4
mosaic variegated aneuploidy syndrome
A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes.
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22.
sitosterolemia 2
A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21.
sitosterolemia
An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.
phytosterolemia
digenic dyskeratosis congenita
A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11.
dyskeratosis congenita
A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
DKCD
preaxial polydactyly type IV
A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14.
crossed polydactyly type 1
polydactyly
A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
postaxial polydactyly
Supernumerary digit
preaxial polydactyly II
A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.
polydactyly of a triphalangeal thumb
preaxial polydactyly I
A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.
pancreatic agenesis 2
A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12.
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12.
SSFSC1
congenital disorder of deglycosylation 2
A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24.
bent bone dysplasia syndrome 1
A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
bone remodeling disease
A bone disease that results_in formation or resorption abnormalities located_in bone.
bent bone dysplasia syndrome 2
A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13.
encephalopathy due to defective mitochondrial and peroxisomal fission 2
A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36.
autosomal dominant isolated macrothrombocytopenia 2
A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11.
MACTHC2
thrombocytopenia
A blood platelet disease that is characterized by low a platelet count in the blood.
poor metabolism of thiopurines 2
A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14.
poor metabolism of thiopurines
An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
TPMT deficiency
thiopurine S-methyltransferase deficiency
rhabdoid tumor predisposition syndrome 2
A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.
RTPS2
rhabdoid tumor predisposition syndrome
A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children.
RTPS
familial posterior fossa brain tumor syndrome of infancy
rhabdoid predisposition syndrome
striatal degeneration 2
A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27.
multiple system atrophy
Shy-Drager syndrome
mitochondrial trifunctional protein deficiency 2
A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.
MTPD2
mitochondrial trifunctional protein deficiency
A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
MTPD
TFP deficiency
TFPD
glycine encephalopathy 2
A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.
GCE2
glycine encephalopathy
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
GCE
NKH
Non-ketotic hyperglycinemia
nonketotic hyperglycinemia
congenital amegakaryocytic thrombocytopenia 2
A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27.
congenital amegakaryocytic thrombocytopenia
A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers.
CAMT
congenital amegakaryocytic thrombocytopenic purpura
pancreatic agenesis 1
A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12.
poor metabolism of thiopurines 1
A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22.
congenital amegakaryocytic thrombocytopenia 1
A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34.
advanced sleep phase syndrome 4
An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13.
FASPS4
familial advanced sleep phase syndrome 4
Only 1 patient has been reported, 11/12/2024.
sideroblastic anemia 5
A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12.
SIDBA5
craniosynostosis 6
A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24.
CRS6
craniosynostosis 2
A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35.
CRS2
Craniosynostosis Boston type
Craniosynostosis Warman type
Warman-Mulliken-Hayward syndrome
craniosynostosis 1
A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
CRS1
craniosynostosis 3
A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21.
CRS3
craniosynostosis 4
A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13.
CRS4
ovarian dysgenesis 9
A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11.
ODG9
46 XX gonadal dysgenesis
A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
ovarian dysgenesis
ovarian dysgenesis 10
A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.
ODG10
female-restricted Wieacker-Wolff syndrome
A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11.
WRWFFR
combined or isolated pituitary growth hormone deficiency 7
A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.
IGHD5
Isolated growth hormone deficiency type V
combined pituitary hormone deficiency
A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.
Simmond's disease
Simmonds' disease
panhypopituitarism
combined pituitary hormone deficiency 4
A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25.
short stature-pituitary and cerebellar defects-small sella turcica syndrome
combined or isolated pituitary hormone deficiency 8
A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12.
CPHD8
combined or isolated pituitary hormone deficiency 1
A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11.
CPHD1
combined pituitary hormone deficiency 2
A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35.
CPHD2
combined pituitary hormone deficiency 3
A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34.
CPHD3
combined pituitary hormone deficiency 6
A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21.
CPHD6
nonphotosensitive trichothiodystrophy 8
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
TTD8
Only 1 patient has been reported as of 12/17/2024.
nonphotosensitive trichothiodystrophy 9
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13.
TTD9
familial restrictive cardiomyopathy 6
A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31.
RCM6
restrictive cardiomyopathy 6
Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].
restrictive cardiomyopathy
An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.
Cardiomyopathy, constrictive
primary restrictive cardiomyopathy
Familial restrictive cardiomyopathy
hereditary pyropoikilocytosis
A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene.
HPP
Duane retraction syndrome 1
A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13.
DURS1
Duane retraction syndrome
A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction.
Duane's syndrome
Stilling-Turk-Duane syndrome
Duane retraction syndrome 2
A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31.
DURS2
Duane retraction syndrome 3
A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
DURS3
hemophilia
A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding.
blood coagulation disease
A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
coagulation protein disease
postpartum coagulation defect
postpartum coagulation defect with delivery
inherited blood coagulation disease
autosomal dominant intellectual developmental disorder 57
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23.
autosomal dominant intellectual developmental disorder 58
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34.
autosomal dominant intellectual developmental disorder 59
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22.
autosomal dominant intellectual developmental disorder 61
An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23.
autosomal dominant intellectual developmental disorder 62
An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13.
autosomal dominant intellectual developmental disorder 63 with macrocephaly
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15.
autosomal dominant intellectual developmental disorder 64
An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14.
autosomal dominant intellectual developmental disorder 65
An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13.
autosomal dominant intellectual developmental disorder 66
An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21.
autosomal dominant intellectual developmental disorder 67
An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33.
autosomal dominant intellectual developmental disorder 68
An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13.
autosomal dominant intellectual developmental disorder 69
An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11.
autosomal dominant intellectual developmental disorder 70
An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities
An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21.
autosomal dominant intellectual developmental disorder 72
An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13.
autosomal dominant intellectual developmental disorder 73
An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13.
autosomal dominant intellectual developmental disorder 74
An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11.
autosomal dominant intellectual developmental disorder 75
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25.
autosomal dominant intellectual developmental disorder type FRA12A
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13.
autosomal dominant intellectual developmental disorder 60 with seizures
An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.
MRD60
immunodeficiency 80
A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13.
immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy
immunodeficiency 81
A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33.
immunodeficiency 82
A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22.
immunodeficiency 82 with systemic inflammation
immunodeficiency 84
A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21.
immunodeficiency 85
A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12.
immunodeficiency 85 and autoimmunity
immunodeficiency 86
A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21.
T cell deficiency
A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
T cell immunodeficiency
T lymphocyte deficiency
T lymphocyte immunodeficiency
immunodeficiency 87
A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia.
immunodeficiency 87 and autoimmunity
immunodeficiency 88
A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21.
immunodeficiency 89
A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13.
immunodeficiency 89 and autoimmunity
immunodeficiency 90
A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13.
immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction
immunodeficiency 91
A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13.
immunodeficiency 91 and hyperinflammation
immunodeficiency 92
A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16.
immunodeficiency 93
A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31.
immunodeficiency-93 and hypertrophic cardiomyopathy
immunodeficiency 94
A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11.
immunodeficiency 94 with autoinflammation and dysmorphic facies
immunodeficiency 95
A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24.
immunodeficiency 96
A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13.
immunodeficiency 97
A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22.
immunodeficiency 97 with autoinflammation
T cell and NK cell immunodeficiency
A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.
immunodeficiency 98
A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22.
X-linked immunodeficiency 98 with autoinflammation
immunodeficiency 99
A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11.
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
immunodeficiency 100
A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24.
immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia
immunodeficiency 101
A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11.
immunodeficiency 101 varicella zoster virus-specific
immunodeficiency 102
A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26.
Perrault syndrome 7
A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22.
PRLTS7
severe combined immunodeficiency 105
A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31.
immunodeficiency 106
A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22.
immunodeficiency 107
A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15.
immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection
immunodeficiency 108
A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11.
immunodeficiency 108 with autoinflammation
immunodeficiency 109
A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36.
Immunodeficiency-109 with EBV-induced lymphoproliferation
immunodeficiency 112
A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21.
T cell, B cell, and NK cell deficiency
A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells.
immunodeficiency 114
A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22.
folate-responsive immunodeficiency 114
immunodeficiency 115
A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11.
immunodeficiency 115 with autoinflammation
immunodeficiency 116
A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12.
immunodeficiency 117
A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31.
immunodeficiency 118
A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24.
immunodeficiency 119
A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV.
immunodeficiency 120
A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13.
immunodeficiency 121
A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22.
immunodeficiency 121 with autoinflammation
immunodeficiency 122
A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13.
immunodeficiency 123
A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33.
immunodeficiency 123 with HPV-related verrucosis
severe combined immunodeficiency 124
A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35.
immunodeficiency 125
A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13.
immunodeficiency 127
A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21.
immunodeficiency 128
A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21.
immunodeficiency 129
A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14.
obsolete immunodeficiency 130
A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21.
immunodeficiency 133
A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.
immunodeficiency 133 with autoimmunity and autoinflammation
immunodeficiency 132B
A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32.
Carpenter syndrome 1
A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11.
Carpenter syndrome 2
A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13.
primary microcephaly
A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.
true microcephaly
immunodeficiency 132A
A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32.
IMD132A
hypertrophic cardiomyopathy 27
A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25.
CMH27
familial hypertrophic cardiomyopathy 27
familial hypertrophic cardiomyopathy
A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
retinitis pigmentosa 76
A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.
RP76
retinitis pigmentosa
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
pericentral pigmentary retinopathy
retinitis pigmentosa 96
A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37.
RP96
retinitis pigmentosa 93
A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
RP93
retinitis pigmentosa 91
A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14.
RP91
retinitis pigmentosa 92
A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22.
RP92
retinitis pigmentosa 79
A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22.
RP79
retinitis pigmentosa 98
A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12.
RP98
retinitis pigmentosa 97
A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14.
RP97
retinitis pigmentosa 80
A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
RP80
retinitis pigmentosa 95
A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13.
RP95
retinitis pigmentosa 78
A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13.
RP78
autosomal recessive intellectual developmental disorder 83
An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14.
MRT83
Carey-Fineman-Ziter syndrome 1
A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34.
CFZS1
Carey-Fineman-Ziter syndrome
A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.
Carey-Fineman-Ziter syndrome 2
A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21.
CFZS2
Perrault syndrome 2
A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31.
autosomal dominant tubulointerstitial kidney disease 2
An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22.
autosomal dominant medullary cystic kidney disease
medullary cystic kidney disease 1
medullary type polycystic kidneys
autosomal dominant tubulointerstitial kidney disease 4
An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.
familial juvenile hyperuricemic nephropathy 2
autosomal dominant tubulointerstitial kidney disease 5
An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21.
familial juvenile hyperuricemic nephropathy 4
autosomal dominant tubulointerstitial kidney disease 6
An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23.
autosomal dominant tubulointerstitial kidney disease 1
An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12.
ADMCKD2
autosomal dominant medullary cystic kidney disease 2
familial juvenile gouty nephropathy
familial juvenile hyperuricemic nephropathy 1
glomerulocystic kidney disease with hyperuricemia and isosthenuria
medullary cystic kidney disease 2
visceral heterotaxy 14
A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36.
autosomal recessive nonsyndromic deafness 125
An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14.
DFNB125
autosomal recessive deafness 125
Only 1 family has been reported as of 4/17/2025
immunodeficiency 131
A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25.
Brunet-Wagner neurodevelopmental syndrome
An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12.
BRUWAG
retinitis pigmentosa 99
A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1.
RP99
mucopolysaccharidosis X
A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.
MPS10
MSP type X
mucopolysaccharidosis due to ARSK deficiency
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16.
FBXO11-related NDD
FBXO11-related neurodevelopmental disorder
IDDFBA
autosomal recessive limb-girdle muscular dystrophy type 28
An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13.
LGMDR28
Limb-girdle, type 28R
autosomal recessive limb-girdle muscular dystrophy
A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance.
autosomal recessive limb-girdle muscular dystrophy type 26
An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21.
LGMDR26
autosomal recessive limb-girdle muscular dystrophy type 23
An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
LGMDR23
autosomal recessive limb-girdle muscular dystrophy type 27
An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32.
LGMDR27
autosomal recessive limb-girdle muscular dystrophy type 29
An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24.
LGMDR29
infantile hypercalcemia 2
A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
infantile hypercalcemia 1
A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.
spinocerebellar ataxia 27B
An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33.
SCA27B
complex cortical dysplasia with other brain malformations 9
A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.
CDCBM9
complex cortical dysplasia with other brain malformations
A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.
CDCBM
coronary atherosclerosis
An atherosclerosis of the coronary vasculature.
atherosclerosis
An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.
ragopathy
A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.
complex cortical dysplasia with other brain malformations 12
A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.
CDCBM12
complex cortical dysplasia with other brain malformations 11
A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32.
CDCBM11
complex cortical dysplasia with other brain malformations 10
A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13.
CDCBM10
complex cortical dysplasia with other brain malformations 13
A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
CDCBM13
monilethrix 1
A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13.
MNLIX1
Pan-Chung-Bellen syndrome
A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11.
PCBS
neurodevelopmental disorder with or without autism or seizures
An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36.
hereditary congenital ptosis 2
A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome.
hereditary congenital ptosis 1
A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance.
familial isolated hypoparathyroidism 1
A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15.
FIH1
familial isolated hypoparathyroidism
A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.
FIH
familial isolated hypoparathyroidism 2
A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene.
FIH2
monilethrix 2
A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13.
monilethrix 3
A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that has_material_basis_in heterozygous mutation in the KRT83 gene on chromosome 12q13.
Mulvihill-Smith syndrome
A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development.
progeroid short stature with pigmented nevi
kyphomelic dysplasia
A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.
pseudocampomelia
CASGID syndrome
A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32.
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
retinopathy sensory neuropathy syndrome
A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.
PCARP
Posterior Column Ataxia with Retinitis Pigmentosa
posterior column ataxia-retinitis pigmentosa syndrome
Kariminejad neurodevelopmental syndrome
An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25.
infantile onset multisystem autoimmune disease
An autoimmune disease characterized by systemic autoimmune manifestations with infantile onset.
infantile onset multisystem autoimmune disease 1
An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21.
infantile onset multisystem autoimmune disease 2
An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12.
infantile onset multisystem autoimmune disease 3
An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13.
infantile onset multisystem autoimmune disease 4
An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37.
infantile onset multisystem autoimmune disease 5
An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24.
proximal renal tubular acidosis
A renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid.
renal tubular acidosis
A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.
autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss
A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34.
autosomal recessive proximal renal tubular acidosis
A renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage.
mitochondrial axonal Charcot-Marie-Tooth disease
A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome.
autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome
An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15.
autoinflammation, panniculitis, and dermatosis syndrome
An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity.
immunodeficiency 130 with HPV-related verrucosis
A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21.
combined immunodeficiency
A primary immunodeficiency disease that involves multiple components of the immune system.
transient neonatal diabetes mellitus 3
A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.
transient neonatal diabetes mellitus 1
A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI.
transient neonatal diabetes mellitus 2
A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15.
Gollop-Wolfgang complex
A physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities.
developmental and epileptic encephalopathy 118
A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21.
X-linked spermatogenic failure 9
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22.
spermatogenic failure
A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.
SPGF
autosomal recessive congenital nystagmus 8
A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2.
autosomal recessive congenital nystagmus
A congenital nystagmus characterized by autosomal recessive inheritance.
autosomal recessive congenital motor nystagmus
Adams-Oliver syndrome 3
An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15.
familial hypercholanemia 3
A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31.
familial hypercholanemia 1
A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21.
familial hypercholanemia 2
A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1
A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12.
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12.
autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase.
multiple familial trichoepithelioma 1
A facial dermatosis that has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
facial dermatosis
autosomal recessive sensory neuropathy with spastic paraplegia
A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2.
neuronal ceroid lipofuscinosis 15
A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36.
neuronal ceroid lipofuscinosis
hereditary ceroid lipofuscinosis
ReNU syndrome
An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24.
neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA)
neonatal nephrocutaneous inflammatory syndrome
An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11.
neonatal inflammatory skin and bowel disease 2
neonatal inflammatory skin and bowel disease 1
An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25.
nephrotic syndrome type 26
A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13.
NPHS26
familial nephrotic syndrome
A nephrotic syndrome that has_material_basis_in genetic mutations.
Congenital nephrotic syndrome
nephrotic syndrome type 24
A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that has_material_basis_in homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21.
NPHS24
proximal renal tubular acidosis-ocular anomaly syndrome
A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13.
Mietens syndrome
A syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
BCARD syndrome
A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22.
Bethlem myopathy 1A
A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22.
Bethlem myopathy 1B
A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22.
Bethlem myopathy 1C
A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.
Bethlem myopathy 2
A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q.
myopathic-type Ehlers-Danlos syndrome
congenital muscular dystrophy with rapid progression
A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21.
maple syrup urine disease type IA
A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13.
maple syrup urine disease
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
Ketoacidaemia
branched chain ketoaciduria
dihydrolipoamide dehydrogenase deficiency
A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31.
mild variant of maple syrup urine disease
A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22.
maple syrup urine disease type IB
A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14.
maple syrup urine disease type II
A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21.
epidermolytic hyperkeratosis 2B
An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21.
autosomal recessive epidermolytic hyperkeratosis 2B
epidermolytic hyperkeratosis 2
An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21.
branchiootic syndrome 1
A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.
branchiootic syndrome 3
A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23.
Lafora disease 2
A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22.
progressive myoclonic epilepsy 2B
Lafora disease
A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
Lafora Progressive Myoclonic Epilepsy
Lafora's disease
MYOCLONIC EPILEPSY OF LAFORA
progressive myoclonic epilepsy 2
hypocholesteremia
A disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia).
telomere biology disorder
A genetic disease that is characterized by telomeres that are longer or shorter than usual.
telomeropathies
telomeropathy
biliary obstruction
A bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system.
hepatic fibrosis
A liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage.
pheochromocytoma/paraganglioma syndrome 1
A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene.
pheochromocytoma/paraganglioma syndrome 2
A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene.
pheochromocytoma/paraganglioma syndrome 3
A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene.
pheochromocytoma/paraganglioma syndrome 4
A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36.
pheochromocytoma/paraganglioma syndrome 5
A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15.
pheochromocytoma/paraganglioma syndrome 6
A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13.
pheochromocytoma/paraganglioma syndrome 7
A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24.
epidermolytic hyperkeratosis 2A
An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21.
autosomal dominant epidermolytic hyperkeratosis 2A
Majeed syndrome
An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11.
chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
interleukin-1 receptor antagonist deficiency
An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14.
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
Sterile multifocal osteomyelitis with periostitis and pustulosis
chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis
primary ciliary dyskinesia 55
A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14.
Azoospermia-sinopulmonary infections syndrome
Sinusitis-infertility syndrome
young syndrome
autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13.
CADASIL
A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
hereditary multi-infarct dementia
autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26.
Camurati-Engelmann disease 1
An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13.
Camurati-Engelmann disease
An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones.
Diaphyseal dysplasia
Engelman's disease
progressive diaphyseal dysplasia
Camurati-Engelmann disease 2
An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
enhanced S-cone syndrome 1
A retinal disease that is characterized by increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones and suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23.
enhanced S-cone syndrome
A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration.
enhanced S-cone syndrome 2
A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.
autosomal recessive brain small vessel disease 2B
A brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A2 gene on chromosome 13q34.
brain small vessel disease
A brain disease characterized by abnormalities in the small blood vessels in the brain.
brain small vessel disease 4
A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive decline that has_material_basis_in homozygous or compound heterozygous mutation in the NIT1 gene on chromosome 1q23.
brain small vessel disease 5 with osteoporosis
A brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associated with brain imaging abnormalities, including lacunal infarcts, microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy that has_material_basis_in heterozygous mutation in the ARHGEF15 gene on chromosome 17p13.
brain small vessel disease 6 with leukoencephalopathy
A brain small vessel disease characterized by central nervous system manifestations, including migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline that has_material_basis_in heterozygous mutation in the CTSA gene on chromosome 20q13.
aggressive periodontitis 1
A periodontitis that has_material_basis_in homozygous mutation in the CTSC gene on chromosome 11q14.
juvenile periodontitis
prepubertal periodontitis
Stargardt disease 3
A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and has_material_basis_in heterozygous mutation in the ELOVL4 gene on chromosome 6q14.
Stargardt disease 4
A stargardt disease that is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina and has_material_basis_in heterozygous mutation in the prominin-1 gene on chromosome 4p15.
Stargardt disease 5
A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and has_material_basis_in homozygous mutation in the RDH8 gene on chromosome 19p13.
Stargardt disease 1
A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.
glucocorticoid deficiency 2
A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22.
familial glucocorticoid deficiency
An adrenal cortex disease that is characterized by insufficient production of glucocorticoids.
glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12.
glucocorticoid deficiency 5
A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11.
periventricular nodular heterotopia 8
A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that has_material_basis_in heterozygous mutation in the ARF1 gene on chromosome 1q42.
periventricular nodular heterotopia 9
A periventricular nodular heterotopia characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13.
familial hyperaldosteronism
A primary hyperaldosteronism characterized by florid clinical and biochemical phenotypes.
familial hyperaldosteronism III
A familial hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production that has_material_basis_in heterozygous mutation in the KCNJ5 gene on chromosome 11q24.
familial hyperaldosteronism II
A familial hyperaldosteronism characterized by hypertension due to increased aldosterone, often with hypokalemia that has_material_basis_in heterozygous mutation in the CLCN2 gene on chromosome 3q27.
familial hyperaldosteronism IV
A familial hyperaldosteronism that has_material_basis_in heterozygous mutation in the CACNA1H gene on chromosome 16p13.
Charcot-Marie-Tooth disease type 2KK
A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24.
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13.
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
An autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-onset seizures, and movement abnormalities, including tremor, ataxia, and dyskinesias that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.
intellectual developmental disorder with seizures and dysmorphic facies
An autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.
spondylocostal dysostosis 7
A spondylocostal dysostosis characterized by severe rib and vertebral malformations, which may result in lethal respiratory compromise that has_material_basis_in homozygous mutation in the DMRT2 gene on chromosome 9p24.
congenital myopathy 25
A congenital myopathy characterized by prominent facial, ocular, and bulbar features that has_material_basis_in homozygous mutation in the JPH1 gene on chromosome 8q21.
congenital myopathy 26
A congenital myopathy characterized by limb muscle weakness and mild motor delay apparent from infancy that has_material_basis_in heterozygous mutation in the TUBA4A gene on chromosome 2q35.
congenital myopathy 27
A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11.
congenital myopathy 28
A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene on chromosome 5p12.
congenital myopathy 28 with rigid spine
congenital myopathy 29
A congenital myopathy characterized by hypotonia, distal joint contractures, and early respiratory and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the dystonin gene on chromosome 6p12.
congenital myopathy 28 with contractures
lethal congenital contracture syndrome 5
A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chromosome 19p13.
lethal congenital contracture syndrome 6
A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from lack of fetal movements, severe polyhydramnios, and absent stomach that has_material_basis_in homozygous mutation in the ZBTB42 gene on chromosome 14q32.
lethal congenital contracture syndrome 7
A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in the CNTNAP1 gene on chromosome 17q21.
lethal congenital contracture syndrome 8
A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13.
lethal congenital contracture syndrome 9
A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from reduced or absent fetal movement that has_material_basis_in homozygous mutation in the GPR126 gene on chromosome 6q24.
lethal congenital contracture syndrome 10
A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24.
lethal congenital contracture syndrome 11
A lethal congenital contracture syndrome characterized by multiple flexion and extension joint contractures resulting from reduced or absent fetal movements that has_material_basis_in homozygous or compound heterozygous mutation in the GLDN gene on chromosome 15q21.
lethal congenital contracture syndrome 12
A lethal congenital contracture syndrome characterized by onset in utero that results in death in utero or during the perinatal period unless there is significant medical intervention, including mechanical ventilation and parenteral/ tube-feeding; however these patients also die in infancy or in the first years of life that has_material_basis_in homozygous mutation in the dystonin gene on chromosome 6p12.
periventricular nodular heterotopia 6
A periventricular nodular heterotopia that has_material_basis_in heterozygous mutation in the ERMARD gene on chromosome 6q27.
periventricular nodular heterotopia 7
A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures that has_material_basis_in heterozygous mutation in the NEDD4L gene on chromosome 18q21.
liver glycogen storage disease
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12.
muscle glycogen storage disease
A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13.
Weill-Marchesani syndrome 1
A Weill-Marchesani syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTS10 gene on chromosome 19p13.
Weill-Marchesani syndrome 2
A Weill-Marchesani syndrome that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
Weill-Marchesani syndrome 3
A Weill-Marchesani syndrome that has_material_basis_in homozygous mutation in the LTBP2 gene on chromosome 14q24.
Weill-Marchesani syndrome 4
A Weill-Marchesani syndrome that has_material_basis_in homozygous mutation in the ADAMTS17 gene on chromosome 15q26.
Senior-Loken syndrome 1
A Senior-Loken syndrome that has_material_basis_in homozygous mutation in the NPHP1 gene on chromosome 2q13.
Senior-Loken syndrome 4
A Senior-Loken syndrome characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa and that has_material_basis_in homozygous mutation in the NPHP4 gene on chromosome 1p36.
Senior-Loken syndrome 5
A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the IQCB1 gene on chromosome 3q13.
Senior-Loken syndrome 6
A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that has_material_basis_in homozygous mutation in the NPHP6 gene on chromosome 12q21.
Senior-Loken syndrome 7
A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SDCCAG8 gene on chromosome 1q43.
Senior-Loken syndrome 8
A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
Senior-Loken syndrome 9
A Senior-Loken syndrome characterized by early-onset nephronophthisis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAF3IP1 gene on chromosome 2q37.
glycogen storage disease X
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13.
glycogen storage disease XI
A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15.
lactate dehydrogenase A deficiency
glycogen storage disease XII
A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11.
aldolase A deficiency
glycogen storage disease XIII
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13.
Galloway-Mowat syndrome 6
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22.
Galloway-Mowat syndrome 7
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
Galloway-Mowat syndrome 8
A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42.
Galloway-Mowat syndrome 9
A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that has_material_basis_in homozygous mutation in the GON7 gene on chromosome 14q32.
Galloway-Mowat syndrome 10
A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that has_material_basis_in homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34.
Meckel syndrome 9
A Meckel syndrome that has_material_basis_in compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2.
Meckel syndrome 10
A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13.
Meckel syndrome 11
A Meckel syndrome that has_material_basis_in homozygous mutation in the TMEM231 gene on chromosome 16q23.
Meckel syndrome 12
A Meckel syndrome that has_material_basis_in a compound heterozygous mutation in the KIF14 gene on chromosome 1q31.
retinitis pigmentosa 100
A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22.
retinitis pigmentosa 101
A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12.
Hermansky-Pudlak syndrome 10
A Hermansky-Pudlak syndrome characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures that has_material_basis_in homozygous mutation in the AP3D1 gene on chromosome 19p13.
Hermansky-Pudlak syndrome 11
A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that has_material_basis_in homozygous mutation in the BLOC1S5 gene on chromosome 6p24.
3-methylglutaconic aciduria type 8
A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.
3-methylglutaconic aciduria type VIII, MGCA8
obsolete neoplastic disease
A disease of cellular proliferation that results in an abnormal mass of tissue.
3-methylglutaconic aciduria type 9
A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13.
3-methylglutaconic acuduria type IX, MGCA9
blastoma
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells.
myeloid neoplasm
A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.
Seckel syndrome 9
A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21.
SCKL9
Seckel syndrome 6
A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22.
SCKL6
Seckel syndrome 1
A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.
SCKL1
microcephalic primordial dwarfism I
Seckel syndrome 10
A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.
SCKL10
Seckel syndrome 8
A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21.
SCKL8
Seckel syndrome 4
A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.
SCKL4
Seckel syndrome 7
A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22.
SCKL7
Seckel syndrome 5
A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
SCKL5
Seckel syndrome 2
A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.
SCKL2
Seckel-type dwarfism 2
microcephalic primordial dwarfism 2
autosomal dominant dyskeratosis congenita 1
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.
DKCA1
Dyskeratosis Congenita, Scoggins Type
autosomal recessive dyskeratosis congenita 1
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.
DKCB1
autosomal dominant dyskeratosis congenita 2
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.
DKCA2
autosomal recessive dyskeratosis congenita 2
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3.
DKCB2
autosomal dominant dyskeratosis congenita 3
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12.
DKCA3
autosomal recessive dyskeratosis congenita 3
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.
DKCB3
autosomal dominant dyskeratosis congenita 4
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33.
DKCA4
autosomal recessive dyskeratosis congenita 4
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33.
DKCB4
autosomal recessive dyskeratosis congenita 5
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.
DKCB5
autosomal dominant dyskeratosis congenita 6
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1.
DKCA6
autosomal recessive dyskeratosis congenita 6
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.
DKCB6
X-linked dyskeratosis congenita
A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.
DKCX
Zinsser-Cole-Engman syndrome
Revesz syndrome
A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.
DKCA5
Dyskeratosis Congenita, Autosomal Dominant 5
exudative retinopathy with bone marrow failure
CST3-related cerebral amyloid angiopathy
A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21.
Amyloidosis VI
Amyloidosis, Cerebroarterial, Icelandic Type
Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant
HCHWA
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant
cerebral amyloid angiopathy
An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
Cerebral Hemorrhage, Hereditary, with Amyloidosis
Hereditary Cerebral Hemorrhage with Amyloidosis
APP-related cerebral amyloid angiopathy
A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.
Amyloidosis, Cerebroarterial, App-Related
Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
Cerebral Amyloid Angiopathy, App-Related, Italian Variant
HCHWAD
ITM2B-related cerebral amyloid angiopathy 1
A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14.
Cerebral Amyloid Angiopathy, British Type
FBD
Familial British Dementia
Presenile Dementia with Spastic Ataxia
ITM2B-related cerebral amyloid angiopathy 2
A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.
Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
FDD
Familial Danish Dementia
HOOE
Heredopathia Ophthalmootoencephalica
autosomal dominant intellectual developmental disorder 1
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1.
MRD1
autosomal dominant mental retardation 1
autosomal dominant non-syndromic intellectual disability 1
autosomal dominant intellectual developmental disorder 2
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24.
MRD2
autosomal dominant mental retardation 2
autosomal dominant non-syndromic intellectual disability 2
autosomal dominant intellectual developmental disorder 3
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3.
MRD3
autosomal dominant mental retardation 3
autosomal dominant non-syndromic intellectual disability 3
autosomal dominant intellectual developmental disorder 4
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2.
MRD4
autosomal dominant mental retardation 4
autosomal dominant non-syndromic intellectual disability 4
autosomal dominant intellectual developmental disorder 5
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.
MRD5
autosomal dominant mental retardation 5
autosomal dominant non-syndromic intellectual disability 5
autosomal dominant intellectual developmental disorder 6
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.
MRD6
autosomal dominant mental retardation 6
autosomal dominant non-syndromic intellectual disability 6
autosomal dominant intellectual developmental disorder 7
An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13.
DYRK1A syndrome
MRD7
autosomal dominant mental retardation 7
autosomal dominant non-syndromic intellectual disability 7
autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures
An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.
MRD8
NDHMSD
autosomal dominant intellectual developmental disorder 8
autosomal dominant mental retardation 8
autosomal dominant non-syndromic intellectual disability 8
NESCAV syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
MRD9
NESCAVS
autosomal dominant intellectual disability 9
autosomal dominant mental retardation 9
autosomal dominant non-syndromic intellectual disability 9
neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
autosomal dominant intellectual developmental disorder 10
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3.
MRD10
autosomal dominant mental retardation 10
autosomal dominant non-syndromic intellectual disability 10
autosomal dominant intellectual developmental disorder 11
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.
MRD11
autosomal dominant mental retardation 11
autosomal dominant non-syndromic intellectual disability 11
Coffin-Siris syndrome 1
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
CSS1
MRD12
autosomal dominant mental retardation 12
fifth digit syndrome
Coffin-Siris syndrome
An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
Dwarfism-Onychodysplasia
Fifth Digit Syndrome
Short Stature-Onychodysplasia.
autosomal dominant intellectual developmental disorder 13
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31.
MRD13
autosomal dominant mental retardation 13
autosomal dominant non-syndromic intellectual disability 13
mental retardation, autosomal dominant 13, with neuronal migration defects
Coffin-Siris syndrome 2
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.
CSS2
MRD14
autosomal dominant mental retardation 14
Coffin-Siris syndrome 3
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
CSS3
MRD15
autosomal dominant mental retardation 15
Coffin-Siris syndrome 4
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
CSS4
MRD16
autosomal dominant mental retardation 16
Schuurs-Hoeijmakers Syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
MRD17
SHMS
autosomal dominant mental retardation 17
GAND syndrome
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.
MRD18
autosomal dominant intellectual developmental disorder 18
autosomal dominant mental retardation 18
autosomal dominant non-syndromic intellectual disability 18
autosomal dominant intellectual developmental disorder 19
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1.
MRD19
autosomal dominant mental retardation 19
autosomal dominant non-syndromic intellectual disability 19
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3.
MRD20
autosomal dominant mental retardation 20
mental retardation, autosomal dominant 20
autosomal dominant intellectual developmental disorder 21
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1.
MRD21
autosomal dominant mental retardation 21
autosomal dominant non-syndromic intellectual disability 21
autosomal dominant intellectual developmental disorder 22
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44.
MRD22
autosomal dominant mental retardation 22
autosomal dominant non-syndromic intellectual disability 22
autosomal dominant intellectual developmental disorder 23
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3.
MRD23
autosomal dominant mental retardation 23
autosomal dominant non-syndromic intellectual disability 23
Vulto-van Silfout-de Vries syndrome
An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5.
IDDISBAS
MRD24
VSVS
autosomal dominant mental retardation 24
autosomal dominant non-syndromic intellectual disability 24
intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures
Xia-Gibbs Syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.
MRD25
autosomal dominant mental retardation 25
autosomal dominant intellectual developmental disorder 26
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22.
MRD26
autosomal dominant mental retardation 26
autosomal dominant non-syndromic intellectual disability 26
Coffin-Siris syndrome 9
An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.
MRD27
autosomal dominant mental retardation 27
autosomal dominant non-syndromic intellectual disability 27
Helsmoortel-Van Der Aa Syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
HVDAS
MRD28
autosomal dominant mental retardation 28
autosomal dominant intellectual developmental disorder 29
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3.
MRD29
autosomal dominant mental retardation 29
autosomal dominant non-syndromic intellectual disability 29
autosomal dominant intellectual developmental disorder 30
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3.
MRD30
autosomal dominant mental retardation 30
autosomal dominant non-syndromic intellectual disability 30
autosomal dominant intellectual developmental disorder 31
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.
MRD31
autosomal dominant mental retardation 31
autosomal dominant non-syndromic intellectual disability 31
Arboleda-Tham syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.
ARTHS
MRD32
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal dominant mental retardation 32
autosomal dominant non-syndromic intellectual disability 32
autosomal dominant intellectual developmental disorder 33
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2.
MRD33
autosomal dominant mental retardation 33
autosomal dominant non-syndromic intellectual disability 33
autosomal dominant intellectual developmental disorder 34
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3.
MRD34
autosomal dominant mental retardation 34
autosomal dominant non-syndromic intellectual disability 34
neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies
autosomal dominant intellectual developmental disorder 35
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
MRD35
autosomal dominant mental retardation 35
autosomal dominant non-syndromic intellectual disability 35
autosomal dominant intellectual developmental disorder 36
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.
MRD36
autosomal dominant mental retardation 36
autosomal dominant non-syndromic intellectual disability 36
White-Sutton syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3.
MRD37
WHSUS
autosomal dominant mental retardation 37
autosomal dominant intellectual developmental disorder 38
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.
MRD38
PRELDS
autosomal dominant mental retardation 38
autosomal dominant non-syndromic intellectual disability 38
psychomotor retardation, epilepsy, and language disability syndrome
autosomal dominant intellectual developmental disorder 39
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.
MRD39
autosomal dominant mental retardation 39
autosomal dominant non-syndromic intellectual disability 39
autosomal dominant intellectual developmental disorder 40
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
MRD40
autosomal dominant mental retardation 40
autosomal dominant non-syndromic intellectual disability 40
autosomal dominant intellectual developmental disorder 41
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32.
MRD41
autosomal dominant mental retardation 41
autosomal dominant non-syndromic intellectual disability 41
autosomal dominant intellectual developmental disorder 42
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.
MRD42
autosomal dominant mental retardation 42
autosomal dominant non-syndromic intellectual disability 42
autosomal dominant intellectual developmental disorder 43
An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.
MRD43
autosomal dominant mental retardation 43
autosomal dominant non-syndromic intellectual disability 43
autosomal dominant intellectual developmental disorder 44
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.
MRD44
autosomal dominant intellectual developmental disorder 44 with microcephaly
autosomal dominant mental retardation 44
autosomal dominant non-syndromic intellectual disability 44
obsolete Kleefstra Syndrome
An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3.
obsolete Koolen-De Vries syndrome
An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31.
chromosome 17q21.31 deletion syndrome
microdeletion 17q21.31 syndrome
schizophrenia 1
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35.
SCZD1
schizophrenia
A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
schizophrenia-1
schizophrenia 2
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21.
SCZD2
schizophrenia 3
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23.
SCZD3
schizophrenia 4
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21.
SCZD4
schizophrenia 5
A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26.
SCZD5
schizophrenia 6
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21.
SCZD6
schizophrenia 7
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32.
SCZD7
schizophrenia 8
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p.
SCZD8
schizophrenia 9
A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2.
SCZD9
schizophrenia 10
A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15.
SCZD10
schizophrenia 11
A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3.
SCZD11
schizophrenia 12
A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2.
SCZD12
schizophrenia 13
A schizophrenia that has_material_basis_in a mutation on chromosome 15q13.
SCZD13
schizophrenia 14
A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1.
SCZD14
schizophrenia 15
A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33.
SCZD15
schizophrenia 16
A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3.
SCZD16
schizophrenia 18
A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2.
Chromosome 7q36.3 Duplication Syndrome, 362-Kb
SCZD18
oculocutaneous albinism type IA
An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
OCA1A
Oculocutaneous Albinism, Tyrosinase-Negative
oculocutaneous albinism type IB
An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
Albinism, Yellow Mutant Type
OCA1B
oculocutaneous albinism type II
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.
OCA2
Oculocutaneous Albinism, Tyrosinase-Positive
oculocutaneous albinism type III
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23.
OCA3
Rufous Oculocutaneous Albinism
oculocutaneous albinism type IV
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.
OCA4
oculocutaneous albinism type V
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24.
OCA5
oculocutaneous albinism type VII
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.
OCA7
obsolete Noonan syndrome 1
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13.
obsolete Noonan syndrome 2
A Noonan syndrome that has_material_basis_in an autosomal recessive mutation.
obsolete Noonan syndrome 3
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1.
obsolete Noonan syndrome 4
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1.
obsolete Noonan syndrome 5
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2.
obsolete Noonan syndrome 6
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2.
obsolete Noonan syndrome 7
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34.
obsolete Noonan syndrome 8
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22.
obsolete Noonan syndrome 9
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3.
obsolete Noonan syndrome 10
A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21.
Niemann-Pick disease type A
A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
Niemann-Pick disease
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Sphingomyelinase Deficiency Disease
lipoid histiocytosis
sphingomyelin lipidosis
Niemann-Pick disease type B
A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
Niemann-Pick disease type C1
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
NPC1
Niemann-Pick disease type C2
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.
NPC2
Meckel syndrome 1
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.
MKS1
Meckel-Gruber syndrome, type 1
Meckel syndrome 2
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2.
MKS2
Meckel-Gruber syndrome, type 2
Meckel syndrome 3
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1.
MKS3
Meckel-Gruber syndrome, type 3
Meckel syndrome 4
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.
MKS4
Meckel-Gruber syndrome, type 4
Meckel syndrome 5
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.
MKS5
Meckel-Gruber syndrome, type 5
Meckel syndrome 6
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.
MKS6
Meckel-Gruber syndrome, type 6
Meckel syndrome 7
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1.
MKS7
Meckel-Gruber syndrome, type 7
Meckel syndrome 8
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31.
MKS8
Meckel-Gruber syndrome, type 8
congenital nongoitrous hypothyroidism 4
A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
CHNG4
isolated thyrotropin deficiency
congenital nongoitrous hypothyroidism 2
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
CHNG2
congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
congenital nongoitrous hypothyroidism 5
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
CHNG5
congenital nongoitrous hypothyroidism 1
A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31.
CHNG1
TSH resistance
congenital nongoitrous hypothyroidism 3
A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1.
CHNG3
congenital nongoitrous hypothyroidism 6
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1.
CHNG6
autosomal recessive cutis laxa type IID
An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
ARCL2D
autosomal recessive cutis laxa type II classic type
A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.
ARCL2, Debre type
ARCL2, classic type
autosomal dominant cutis laxa 1
An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.
ADCL1
autosomal dominant cutis laxa
A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity.
ADCL
autosomal dominant cutis laxa 3
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
ADCL3
autosomal recessive cutis laxa type IIIA
A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
ARCL3A
De Barsy syndrome A
autosomal recessive cutis laxa type III
A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.
De Barsy syndrome
cutis laxa-corneal clouding-intellectual disability syndrome
autosomal recessive cutis laxa type IB
An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
ARCL1B
autosomal recessive cutis laxa type I
A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems.
autosomal recessive cutis laxa type 1
autosomal recessive cutis laxa type IIA
An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
ARCL2A
autosomal recessive cutis laxa type IA
An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
ARCL1A
autosomal dominant cutis laxa 2
An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.
ADCL2
autosomal recessive cutis laxa type IIB
A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
ARCL2, progeroid type
ARCL2B
autosomal recessive cutis laxa type IIIB
An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
ARCL3B
De Barsy syndrome B
autosomal recessive cutis laxa type IC
A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.
ARCL1C
autosomal recessive cutis laxa type 1C
autosomal recessive cutis laxa type IIC
An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
hereditary sensory and autonomic neuropathy type 5
A hereditary sensory and autonomic neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.
congenital insensitivity to pain
HSAN5
hereditary sensory and autonomic neuropathy type V
congenital insensitivity to pain with anhidrosis
A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
CIPA
HSAN4
familial dysautonomia type II
hereditary sensory and autonomic neuropathy type 4
hereditary sensory and autonomic neuropathy type IV
hereditary sensory neuropathy type 4
hereditary sensory neuropathy type IV
insensitivity to pain, congenital, with anhidrosis
type II familial dysautonomia
hereditary sensory neuropathy type 2C
A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.
HSAN2C
HSN2C
hereditary sensory and autonomic neuropathy type 2C
hereditary sensory and autonomic neuropathy type IIC
hereditary sensory neuropathy type IIC
hereditary sensory and autonomic neuropathy type 2
A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis.
HSAN2
HSN2
hereditary sensory and autonomic neuropathy type II
hereditary sensory neuropathy type 2
hereditary sensory neuropathy type II
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux.
CANVAS
hereditary sensory and autonomic neuropathy type 1B
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type IB
sensory peripheral neuropathy
A neuropathy that involves damage to sensory nerves of the peripheral nervous system.
peripheral Sensory Neuropathy
sensory neuropathy
hereditary sensory and autonomic neuropathy type 7
A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
HSAN7
hereditary sensory and autonomic neuropathy type VII
hereditary sensory and autonomic neuropathy type 2B
A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15.
HSAN2B
hereditary sensory and autonomic neuropathy type IIB
hereditary sensory and autonomic neuropathy type 6
A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12.
HSAN6
hereditary sensory and autonomic neuropathy type VI
hereditary sensory and autonomic neuropathy type 1A
A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
HSAN1A
HSN1A
hereditary sensory and autonomic neuropathy type IA
hereditary sensory neuropathy type 1A
hereditary sensory neuropathy type IA
hereditary sensory and autonomic neuropathy type 1
A hereditary sensory and autonomic neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.
HSAN1
HSN1
hereditary sensory and autonomic neuropathy type I
hereditary sensory neuropathy type 1
hereditary sensory neuropathy type I
hereditary sensory and autonomic neuropathy type 8
A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34.
HSAN8
hereditary sensory and autonomic neuropathy type VIII
hereditary sensory neuropathy type 1F
A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13.
HSN1F
hereditary sensory neuropathy type IF
hereditary sensory and autonomic neuropathy type 2A
A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.
HSAN2A
hereditary sensory and autonomic neuropathy type IIA
hereditary sensory neuropathy type 1D
A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.
HSAN1D
HSN1D
hereditary sensory and autonomic neuropathy type 1D
hereditary sensory and autonomic neuropathy type ID
hereditary sensory neuropathy type ID
hereditary sensory and autonomic neuropathy type 1C
A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
HSAN1C
HSN1C
hereditary sensory and autonomic neuropathy type IC
hereditary sensory neuropathy type 1C
hereditary sensory neuropathy type IC
hereditary sensory neuropathy type 1E
A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13.
HSAN1E
HSN1E
hereditary sensory and autonomic neuropathy type 1E
hereditary sensory and autonomic neuropathy type IE
hereditary sensory neuropathy type IE
X-linked hereditary sensory neuropathy
A hereditary sensory and autonomic neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life without autonomic dysfunction.
atypical hereditary sensory neuropathy
A hereditary sensory and autonomic neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.
spermatogenic failure 21
A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22.
male infertility due to acephalic spermatozoa
A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads.
spermatogenic failure 2
A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31.
SPGF2
spermatogenic failure 18
A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.
SPGF18
spermatogenic failure 20
A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13.
SPGF20
spermatogenic failure 6
A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.
SPGF6
male infertility due to globozoospermia
A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects.
globozoospermia syndrome
spermatogenic failure 3
A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21.
SPGF3
spermatogenic failure 8
A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.
SPGF8
spermatogenic failure 19
A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25.
SPGF19
spermatogenic failure 12
A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26.
SPGF12
spermatogenic failure 15
A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26.
SPGF15
spermatogenic failure 7
A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13.
SPGF7
spermatogenic failure 17
A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12.
Male infertility due to oocyte activation failure
SPGF17
obsolete spermatogenic failure 9
spermatogenic failure 4
A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.
SPGF4
spermatogenic failure 22
A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13.
SPGF22
spermatogenic failure 10
A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.
SPGF10
Spermatogenic failure with defective sperm annulus
One family has been reported as of 4/24/2025
spermatogenic failure 14
A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13.
SPGF14
spermatogenic failure 11
A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21.
SPGF11
spermatogenic failure 23
A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23.
SPGF23
spermatogenic failure 13
A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11.
SPGF13
spermatogenic failure 5
A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.
Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid
SPGF5
infertility associated with multitailed spermatozoa and excessive DNA
macrocephalic sperm head syndrome
male infertility due to macrozoospermia
male infertility with large-headed, multiflagellar, polyploid spermatozoa
spermatogenic failure 16
A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11.
SPGF16
acephalic spermatozoa syndrome
X-linked spermatogenic failure 2
A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13.
SPGFX2
Y-linked spermatogenic failure 1
A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region.
SPGFY1
Y-linked Sertoli cell-only syndrome
type I Sertoli cell-only syndrome
Y-linked spermatogenic failure 2
A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region.
SPGFY2
nonobstructive Y-linked spermatogenic failure
spermatogenic failure 1
A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.
SPGF1
oligochiasmatic infertility
oligosynaptic infertility
X-linked spermatogenic failure 1
A Sertoli cell-only syndrome characterized by X-linked inheritance.
SPGFX1
OMIM merged into X-linked chronic granulomatous disease[LS]
obsolete autosomal dominant chronic granulomatous disease
A chronic granulomatous disease characterized by autosomal dominant inheritance.
autosomal recessive chronic granulomatous disease 2
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.
CDG2
autosomal recessive chronic granulomatous disease cytochrome b-positive type II
chronic granulomatous disease due to deficiency of NCF-2
deficiency of NCF2
deficiency of p67-PHOX
chronic granulomatous disease
A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
Bridges-Good syndrome
CGD
Congenital dysphagocytosis
Quie syndrome
autosomal recessive chronic granulomatous disease 1
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.
CDG1
autosomal recessive chronic granulomatous disease cytochrome b-positive type I
chronic granulomatous disease due to deficiency of NCF-1
deficiency of NCF1
deficiency of SOC2
deficiency of neutrophil cytosol factor 1
deficiency of p47-PHOX
deficiency of soluble oxidase component II
autosomal recessive chronic granulomatous disease 4
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.
CGD due to deficiency of the alpha subunit of cytochrome b
CYBA deficiency
autosomal recessive chronic granulomatous disease cytochrome b-negative
autosomal recessive cytochrome b-negative CGD
chronic granulomatous disease due to deficiency of CYBA
autosomal recessive chronic granulomatous disease 3
A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.
CDG3
autosomal recessive chronic granulomatous disease cytochrome b-positive type III
autosomal recessive cytochrome b-positive CGD type III
chronic granulomatous disease due to NCF4 deficiency
X-linked chronic granulomatous disease
A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4.
CDGX
X-linked chronic cytochrome b-negative granulomatous disease
infantile-onset distal myopathy
A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development.
distal myopathy
A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
distal muscular dystrophy
distal myopathy 1
A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2.
Distal myopathy type 1
Gowers disease
Laing distal myopathy
Laing early-onset distal myopathy
MPD1
Miyoshi muscular dystrophy
A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood.
Miyoshi myopathy
Miyoshi muscular dystrophy 1
A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13.
MMD1
Miyoshi myopathy 1
Miyoshi muscular dystrophy 2
A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10.
MMD2
Miyoshi myopathy 2
Miyoshi muscular dystrophy 3
A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.
MMD3
Miyoshi myopathy 3
familial partial lipodystrophy type 2
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
FPLD2
familial lipodystrophy of limbs and lower trunk
familial partial lipodystrophy Dunnigan type
reverse partial lipodystrophy
familial partial lipodystrophy type 5
A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25.
CIDEC-related FPLD
FPLD5
familial partial lipodystrophy associated with CIDEC mutations
familial partial lipodystrophy type 3
A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25.
FPLD3
PPARG-related FPLD
PPARG-related familial partial lipodystrophy
familial partial lipodystrophy associated with PPARG mutations
familial partial lipodystrophy type 4
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26.
FPLD4
PLIN1-related FPLD
PLIN1-related familial partial lipodystrophy
familial partial lipodystrophy associated with PLIN1 mutations
familial partial lipodystrophy type 6
A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13.
FPLD6
LIPE-related FPLD
LIPE-related familial partial lipodystrophy
familial partial lipodystrophy associated with LIPE mutations
familial partial lipodystrophy type 1
A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.
FPLD1
familial partial lipodystrophy Kobberling type
hereditary lymphedema IC
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
LMPH1C
hereditary lymphedema ID
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34.
LMPH1D
hereditary lymphedema IA
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35.
LMPH1A
hereditary lymphedema IB
A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1.
LMPH1B
hereditary lymphedema I
A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
LMPH1
Milroy disease
Nonne-Milroy lymphedema
PCL
congenital primary lymphedema
hereditary lymphedema type I
hereditary lymphedema II
A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.
LMPH2
Meige disease
Meige lymphedema
late-onset lymphedema
lymphedema preacox
familial hyperinsulinemic hypoglycemia 7
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.
EIHI
HHF7
exercise-induced hyperinsulinemic hypoglycemia
exercise-induced hyperinsulinism
hyperinsulinism due to SLC16A1 deficiency
hyperinsulinism due to monocarboxylate transporter 1 deficiency
hyperinsulinemic hypoglycemia
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
Islet cell hyperplasia
nesidioblastosis
persistent hyperinsulinemia hypoglycemia of infancy
familial hyperinsulinemic hypoglycemia 4
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.
HHF4
hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
hyperinsulinism due to SCHAD deficiency
hyperinsulinism due to glutamodehydrogenase deficiency
hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
familial hyperinsulinemic hypoglycemia 3
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.
HHF3
hyperinsulinemic hypoglycemia due to glucokinase deficiency
hyperinsulinism due to glucokinase deficiency
familial hyperinsulinemic hypoglycemia 6
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.
HHF6
HI/HA syndrome
hyperinsulinism-hyperammonemia syndrome
hypoglycemia
A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
Hypoglycaemia
familial hyperinsulinemic hypoglycemia 2
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
HHF2
hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
familial hyperinsulinemic hypoglycemia 1
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.
HHF1
familial hyperinsulinemic hypoglycemia 5
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.
HHF5
hyperinsulinemic hypoglycemia due to INSR deficiency
hyperinsulinemic hypoglycemia due to insulin receptor deficiency
hyperinsulinism due to INSR deficiency
progressive familial intrahepatic cholestasis
An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Byler disease
PFIC
intrahepatic cholestasis
A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
neonatal intrahepatic cholestasis
progressive familial intrahepatic cholestasis 2
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
BSEP deficiency
PFIC2
progressive familial intrahepatic cholestasis 3
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
MDR3 deficiency
PFIC3
progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
progressive familial intrahepatic cholestasis 4
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
PFIC4
TJP2 deficit
progressive familial intrahepatic cholestasis 5
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.
NR1H4 deficiency
PFIC5
progressive familial intrahepatic cholestasis 1
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
FIC1 deficiency
PFIC1
intrahepatic cholestasis of pregnancy
An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.
ICP
gravidic intrahepatic cholestasis
pregnancy related cholestasis
recurrent intrahepatic cholestasis of pregnancy
intrahepatic cholestasis of pregnancy 1
An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
ICP1
pregnancy related cholestasis 1
intrahepatic cholestasis of pregnancy 3
An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.
ICP3
pregnancy related cholestasis 3
benign recurrent intrahepatic cholestasis
An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.
BRIC
Summerskill-Walshe-Tygstrup syndrome
benign recurrent intrahepatic cholestasis 1
A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q.
BRIC type 1
BRIC1
Summerskill syndrome
benign recurrent intrahepatic cholestasis 2
A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
BRIC type 2
BRIC2
Loeys-Dietz syndrome 4
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations
LDS4
Loeys-Dietz syndrome 2
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
AAT3
LDS2
Marfan syndrome type II
familial throacic aortic aneurysm 3
Loeys-Dietz syndrome 1
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
AAT5
Furlong syndrome
LDS1
familial throacic aortic aneurysm 5
Loeys-Dietz syndrome 5
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
LDS5
RNHF
Reinhoff syndrome
Loeys-Dietz syndrome 3
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.
LDS1C
LDS3
Loeys-Dietz syndrome type 1C
Loeys-Dietz syndrome with osteoarthritis
aneurysms-osteoarthritis syndrome
primary coenzyme Q10 deficiency 1
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
COQ10D1
CoQ deficiency 1
CoQ10 deficiency, primary, 1
coenzyme Q deficiency 1
ubiquinone deficiency 1
primary coenzyme Q10 deficiency 2
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.
COQ10D2
coenzyme Q10 deficiency, primary, 2
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
primary coenzyme Q10 deficiency 3
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21.
COQ10D3
coenzyme Q10 deficiency, primary, 3
primary coenzyme Q10 deficiency 4
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.
COQ10D4
SCAR9
coenzyme Q10 deficiency, primary, 4
spinocerebellar ataxia, autosomal recessive 9
primary coenzyme Q10 deficiency 5
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.
COQ10D5
coenzyme Q10 deficiency, primary, 5
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
primary coenzyme Q10 deficiency 6
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.
COQ10D6
coenzyme Q10 deficiency, primary, 6
familial steroid-resistant nephrotic syndrome with sensorineural deafness
primary coenzyme Q10 deficiency 7
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.
COQ10D7
COQ4-related neonatal encephalomyopathy
coenzyme Q10 deficiency, primary, 7
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
primary coenzyme Q10 deficiency 8
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3.
COQ10D8
coenzyme Q10 deficiency, primary, 8
X-linked Emery-Dreifuss muscular dystrophy 1
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
EDMD1
EMD1
Emery-Dreifuss muscular dystrophy 1, X-linked
humeroperoneal neuromuscular disease
muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
scapuloperoneal syndrome, X-linked
Emery-Dreifuss muscular dystrophy
A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
EDMD
autosomal dominant Emery-Dreifuss muscular dystrophy 2
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
EDMD2
EMD2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy, autosomal dominant
Hauptmann-Thannhauser muscular dystrophy
autosomal dominant limb-girdle muscular dystrophy type 1B
muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
scapuloilioperoneal atrophy with cardiopathy
autosomal recessive Emery-Dreifuss muscular dystrophy 3
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.
EDMD3
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
autosomal dominant Emery-Dreifuss muscular dystrophy 4
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.
EDMD4
Emery-Dreifuss muscular dystrophy 4 with variable features
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
autosomal dominant Emery-Dreifuss muscular dystrophy 5
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.
EDMD5
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
X-linked Emery-Dreifuss muscular dystrophy 6
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.
EDMD6
Emery-Dreifuss muscular dystrophy 6, X-linked
XMPMA
myopathy, X-linked, with postural muscle atrophy
autosomal dominant Emery-Dreifuss muscular dystrophy 7
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.
EDMD7
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
congenital disorder of glycosylation type IIa
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
Alkuraya syndrome
CDG IIa
CDG2A
CDGIIa
CDGS2
carbohydrate-deficient glycoprotein syndrome, type II
congenital disorder of glycosylation, type IIa
mental retardation, growth retardation, prominent columella, and open mouth
congenital disorder of glycosylation type IIb
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.
CDG IIb
CDG2B
CDGIIb
glucosidase I deficiency
congenital disorder of glycosylation type IIc
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
CDG IIc
CDG2C
CDGIIc
Rambam-Hasharon syndrome
congenital disorder of glycosylation type IId
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.
CDG IId
CDG2D
CDGIId
congenital disorder of glycosylation type IIe
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.
CDG IIe
CDG syndrome type IIe
CDG2E
CDGIIe
COG7-CDG
Carbohydrate deficient glycoprotein syndrome type IIe
congenital disorder of glycosylation type IIf
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.
CDG IIf
CDG2F
CDGIIf
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
SLC35A1-CDG
congenital disorder of glycosylation type IIg
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.
CDG IIg
CDG2G
CDGII/COG1 cerebrocostomandibular-like syndrome
CDGIIg
Carbohydrate deficient glycoprotein syndrome type IIg
congenital disorder of glycosylation type IIh
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.
CDG IIh
CDG2H
CDGIIh
COG8-CDG
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
congenital disorder of glycosylation type IIi
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.
CDG IIi
CDG syndrome type IIi
CDG2I
CDGIIi
COG5-CDG
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
congenital disorder of glycosylation type IIj
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.
CDG IIj
CDG syndrome type IIj
CDG2J
CDGIIj
COG4-CDG
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
congenital disorder of glycosylation type IIk
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
CDG IIk
CDG syndrome type IIk
CDG2K
CDGIIk
Carbohydrate deficient glycoprotein syndrome type IIk
Congenital disorder of glycosylation type 2k
TMEM165-CDG
congenital disorder of glycosylation type IIl
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.
CDG IIl
CDG syndrome type IIL
CDG2L
CDGIIl
COG6-CGD
Congenital disorder of glycosylation type 2l
congenital disorder of glycosylation type IIm
A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
CDG IIm
CDGIIm
DEE22
EIEE22
SLC35A2-CDG
congenital disorder of glycosylation type 2m
developmental and epileptic encephalopathy 22
epileptic encephalopathy, early infantile, 22
congenital disorder of glycosylation type IIn
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.
CDG IIn
CDG syndrome type IIn
CDG2N
CDGIIn
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
SLC39A8-CDG
congenital disorder of glycosylation type IIo
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.
CCDC115-CDG
CDG IIo
CDG syndrome type IIo
CDG2O
CDGIIo
Carbohydrate deficient glycoprotein syndrome type IIo
Congenital disorder of glycosylation type 2o
congenital disorder of glycosylation type IIp
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.
CDG IIp
CDG syndrome type IIp
CDG2P
CDGIIp
Carbohydrate deficient glycoprotein syndrome type IIp
Congenital disorder of glycosylation type 2p
TMEM199-CDG
congenital disorder of glycosylation type IIq
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.
CDG IIq
CDG2Q
CDGIIq
COG2-CDG
COG2-related congenital disorder of glycosylation
hereditary nonpolyposis colorectal cancer type 8
A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.
HNPCC8
Lynch syndrome 1
A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
COCA1
FCC1
HNPCC1
familial nonpolyposis colon cancer type 1
hereditary nonpolyposis colorectal cancer type 1
hereditary nonpolyposis colorectal cancer type 5
A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16.
HNPCC5
hereditary nonpolyposis colorectal cancer type 6
A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.
HNPCC6
hereditary nonpolyposis colorectal cancer type 2
A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2.
COCA2
FCC2
HNPCC2
familial nonpolyposis colon cancer type 2
hereditary nonpolyposis colorectal cancer type 4
A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22.
HNPCC4
hereditary nonpolyposis colorectal cancer type 7
A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3.
HNPCC7
primary autosomal recessive microcephaly 15
A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.
MCPH15
NEDMISBA
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
primary autosomal recessive microcephaly 7
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.
MCPH7
primary autosomal recessive microcephaly 14
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
MCPH14
primary autosomal recessive microcephaly 5
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
MCPH5
primary autosomal recessive microcephaly 19
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
MCPH19
primary autosomal recessive microcephaly 8
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.
MCPH8
primary autosomal recessive microcephaly 13
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.
MCPH13
primary autosomal recessive microcephaly 12
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.
MCPH12
primary autosomal recessive microcephaly 1
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
MCPH1
primary autosomal recessive microcephaly 3
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.
MCPH3
primary autosomal recessive microcephaly 11
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.
MCPH11
primary autosomal recessive microcephaly 17
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.
MCPH17
primary autosomal recessive microcephaly 16
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.
MCPH16
primary autosomal recessive microcephaly 6
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
MCPH6
primary autosomal recessive microcephaly 4
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.
MCPH4
primary autosomal recessive microcephaly 9
A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
MCPH9
primary autosomal recessive microcephaly 2 with or without cortical malformations
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.
MCPH2
primary autosomal recessive microcephaly 10
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.
MCPH10
primary autosomal dominant microcephaly 18
A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21.
MCPH18
multiple epiphyseal dysplasia 2
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
EDM2
multiple epiphyseal dysplasia due to collagen 9 anomaly
A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).
multiple epiphyseal dysplasia 5
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.
BHMED
EDM5
bilateral hereditary microepiphyseal dysplasia
multiple epiphyseal dysplasia MATN3-related
multiple epiphyseal dysplasia
An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.
polyepiphyseal dysplasia
multiple epiphyseal dysplasia 4
A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.
EDM4
MED4
Polyepiphyseal dysplasia type 4
multiple epiphyseal dysplasia with bilateral patellae
multiple epiphyseal dysplasia with clubfoot
rMED
multiple epiphyseal dysplasia 6
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.
EDM6
multiple epiphyseal dysplasia 7
A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25.
EDM7
multiple epiphyseal dysplasia 1
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.
EDM1
MED1
multiple epiphyseal dysplasia COMP-related
polyepiphyseal dysplasia type 1
multiple epiphyseal dysplasia 3
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
EDM3
multiple epiphyseal dysplasia 3 with or without myopathy
post-cardiac arrest syndrome
A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies.
post cardiac syndrome
craniolenticulosutural dysplasia
A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.
Boyadjiev-Jabs Syndrome
cranio-lenticulo-sutural dysplasia, CLSD
rippling muscle disease 1
A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.
drug-induced hearing loss
A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity.
drug induced hearing loss
oligoasthenoteratozoospermia
A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.
OAT
oligoasthenoteratospermia
obsolete Peters-Plus Syndrome
A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability.
thiamine deficiency disease
A nutritional deficiency disease that is characterized by low levels of thiamine.
obstructive nephropathy
A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.
CON
congenital obstructive nephropathy
hypoplastic right heart syndrome
A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.
Right hypoplastic heart syndrome
Miura type epiphyseal chondrodysplasia
A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.
ECDM
tall stature-scoliosis-macrodactyly of the great toes syndrome
tall stature-scoliosis-macrodactyly of the halluces syndrome
wet beriberi
A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath.
beriberi
A thiamine deficiency disease that is characterized by being severe and chronic.
dry beriberi
A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting.
miliaria pustulosa
A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.
miliaria
A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
eccrine miliaria
heat rash
sweat rash
miliaria profunda
A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.
miliaria crystallina
A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum.
childhood hepatocellular carcinoma
A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.
pediatric hepatocellular carcinoma
hepatocellular carcinoma
A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Hepatoma
childhood acute myeloid leukemia
A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
childhood acute myeloid leukaemia
paediatric acute myeloid leukaemia
pediatric acute myeloid leukemia
childhood leukemia
A leukemia that occurs in children.
systemic Epstein-Barr virus positive T-cell lymphoma of childhood
A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood.
EBV-positive T-cell lymphoproliferative disorder of childhood
systemic EBV-positive T-cell lymphoma of childhood
childhood lymphoma
pediatric lymphoma
malignant childhood adrenal gland pheochromocytoma
An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.
malignant pediatric adrenal gland pheochromocytoma
spitzoid melanoma
A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.
atypical spitz nevus
OMIM IDs, MIM:612263 and MIM:608035 represent susceptibility loci[LS].
skin melanoma
A skin cancer that has_material_basis_in melanocytes.
Cutaneous Malignant Melanoma
cutaneous melanoma
malignant ear melanoma
malignant lip melanoma
malignant lower limb melanoma
malignant melanoma of ear and/or external auricular canal
malignant melanoma of skin of lower limb
malignant melanoma of skin of trunk except scrotum
malignant melanoma of skin of upper limb
malignant neck melanoma
malignant scalp melanoma
malignant trunk melanoma
malignant upper limb melanoma
melanoma in congenital melanocytic nevus
A skin melanoma that arises from a congenital melanocytic nevus.
Malignant melanoma in congenital melanocytic nevus
melanocytic nevi
adult hepatocellular carcinoma
A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.
adult hepatoma
adult primary hepatocellular carcinoma
multiple mitochondrial dysfunctions syndrome
A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment.
fatal multiple mitochondrial dysfunction syndrome
mitochondrial DNA depletion syndrome 8b
A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.
mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
multiple mitochondrial dysfunctions syndrome 6
A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22.
breast implant-associated anaplastic large cell lymphoma
A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule.
vegetable allergy
A food allergy triggered by a vegetable food product.
celery allergy
A vegetable allergy triggered by celery (Apium graveolens).
arthrogryposis multiplex congenita-6
An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
arthrogryposis multiplex congenita
A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.
epithelial recurrent erosion dystrophy
An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity.
COL17A1
ERED
cerebellar hypoplasia
A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.
classic citrullinemia
A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
citrullinemia
An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
ASS deficiency
deficiency of citrulline-aspartate ligase
neonatal-onset type II citrullinemia
A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
neonatal or infantile-onset citrin deficiency
neonatal-onset type 2 citrullinemia
adult-onset type II citrullinemia
A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
CTLN2
adolescent- or adult-onset citrin deficiency
citrin deficiency
CSF1R-related brain malformation and osteopetrosis
A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.
osteoporosis and infantile neuroaxonal dystrophy
neuroaxonal dystrophy
ocular tuberculosis
A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes.
vertebral anomalies and variable endocrine and T-cell dysfunction
A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.
heterozygotes for TBX2 variants
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22.
encephalopathy due to defective mitochondrial and peroxisomal fission 1
A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.
spinal muscular atrophy with lower extremity predominant
A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.
spinal muscular atrophy with lower extremity predominance
spinal muscular atrophy with lower extremity predominant 2A
A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.
spinal muscular atrophy with lower extremity predominance 2A
spinal muscular atrophy with lower extremity predominant 2B
A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.
spinal muscular atrophy with lower extremity predominance 2B
spinal muscular atrophy with lower extremity predominant 1
A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
spinal muscular atrophy with lower extremity predominance 1
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy.
CONDSIAS
cataract 47
A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea.
CTRCT47
cataract 48
A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.
CTRCT48
overactive bladder syndrome
A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.
OAB
overactive bladder
urge syndrome
urgency-frequency syndrome
visual impairment and progressive phthisis bulbi
An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
nephrotic syndrome type 20
A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males.
primary biliary cholangitis 1
A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33.
BILIARY CIRRHOSIS, PRIMARY, 1
PBC1
primary biliary cholangitis
A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
biliary liver cirrhosis
cholestatic cirrhosis
chronic nonsuppurative destructive cholangitis
primary biliary cirrhosis
primary biliary cholangitis 2
A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3.
BILIARY CIRRHOSIS, PRIMARY, 2
PBC2
primary biliary cholangitis 3
A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2.
BILIARY CIRRHOSIS, PRIMARY, 3
PBC3
primary biliary cholangitis 4
A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32.
BILIARY CIRRHOSIS, PRIMARY, 4
PBC4
primary biliary cholangitis 5
A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21.
BILIARY CIRRHOSIS, PRIMARY, 5
PBC5
bradyopsia 1
A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24.
prolonged electroretinal response suppression 1
bradyopsia 2
A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13.
prolonged electroretinal response suppression 2
nevoid basal cell carcinoma syndrome 1
A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
basal cell nevus syndrome 1
nevoid basal cell carcinoma syndrome
A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
Gorlin syndrome
NBCCS
basal cell nevus syndrome
nevoid basal cell carcinoma syndrome 2
A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24.
basal cell nevus syndrome 2
'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB].
leukoencephalopathy with vanishing white matter 5
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.
Cree leukoencephalopathy
autosomal recessive chronic granulomatous disease 5
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25.
restrictive dermopathy 1
A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
restrictive dermopathy 2
A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
leukoencephalopathy with vanishing white matter 4
A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23.
leukoencephalopathy with vanishing white matter 3
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34.
leukoencephalopathy with vanishing white matter 2
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24.
leukoencephalopathy with vanishing white matter 1
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
developmental and epileptic encephalopathy 64
A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.
DEE64
early infantile epileptic encephalopathy 64
developmental and epileptic encephalopathy 31B
A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.
DEE31B
developmental and epileptic encephalopathy 96
A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21.
DEE96
developmental and epileptic encephalopathy 109
A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.
DEE109
developmental and epileptic encephalopathy 6B
A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
DEE6B
developmental and epileptic encephalopathy 85
A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11.
DEE85
early infantile epileptic encephalopathy 85
developmental and epileptic encephalopathy 90
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26.
DEE90
developmental and epileptic encephalopathy 95
A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.
DEE95
early infantile epileptic encephalopathy 95
developmental and epileptic encephalopathy 97
A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14.
DEE97
early infantile epileptic encephalopathy 97
developmental and epileptic encephalopathy 98
A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.
DEE98
early infantile epileptic encephalopathy 98
developmental and epileptic encephalopathy 99
A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.
DEE99
early infantile epileptic encephalopathy 99
developmental and epileptic encephalopathy 100
A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42.
DEE100
early infantile epileptic encephalopathy 100
developmental and epileptic encephalopathy 101
A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.
DEE101
early infantile epileptic encephalopathy 101
developmental and epileptic encephalopathy 102
A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21.
DEE102
early infantile epileptic encephalopathy 102
developmental and epileptic encephalopathy 103
A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21.
DEE103
early infantile epileptic encephalopathy 103
developmental and epileptic encephalopathy 104
A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
DEE104
early infantile epileptic encephalopathy 104
developmental and epileptic encephalopathy 105
A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.
DEE105
early infantile epileptic encephalopathy 105
developmental and epileptic encephalopathy 106
A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35.
DEE106
early infantile epileptic encephalopathy 106
developmental and epileptic encephalopathy 107
A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11.
DEE107
early infantile epileptic encephalopathy 107
developmental and epileptic encephalopathy 108
A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13.
DEE108
early infantile epileptic encephalopathy 108
developmental and epileptic encephalopathy 110
A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.
DEE110
early infantile epileptic encephalopathy 110
progressive leukoencephalopathy with ovarian failure
An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.
hypomyelinating leukodystrophy 23
A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life.
HLD23
hypomyelinating leukodystrophy 15
A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41.
HLD15
hypomyelinating leukodystrophy 18
A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42.
HLD18
hypomyelinating leukodystrophy 19
A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.
HLD19
hypomyelinating leukodystrophy 25
A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21.
HLD25
hypomyelinating leukodystrophy 22
A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.
HLD22
hypomyelinating leukodystrophy 26
A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21.
HLD26
hypomyelinating leukodystrophy 17
A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22.
HLD17
hypomyelinating leukodystrophy 16
A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21.
HLD16
hypomyelinating leukodystrophy 24
A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.
HLD24
hypomyelinating leukodystrophy 21
A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13.
HLD21
Hengel-Maroofian-Schols syndrome
A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23.
autosomal recessive spinocerebellar ataxia 28
An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33.
SCAR28
autosomal recessive spinocerebellar ataxia 29
An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14.
SCAR29
autosomal recessive spinocerebellar ataxia 30
An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15.
SCAR30
autosomal recessive spinocerebellar ataxia 31
An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25.
SCAR31
autosomal recessive spinocerebellar ataxia 32
An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26.
SCAR32
autosomal recessive spinocerebellar ataxia 33
An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13.
SCAR33
brachycephaly, trichomegaly, and developmental delay
A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14.
BTDD
MCINS
Macinnes syndrome
Luo-Schoch-Yamamoto syndrome
A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25.
LUSYAM
neurodevelopmental disorder with speech impairment and dysmorphic facies
A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.
NEDSID
vertebral hypersegmentation and orofacial anomalies
A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.
VHO
acrocardiofacial syndrome
A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit.
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
developmental delay, hypotonia, and impaired language
An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31.
DEDHIL
neurodevelopmental disorder with spasticity and poor growth
An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23.
NEDSG
syndromic X-linked intellectual disability Pilorge type
A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.
MRXSP
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25.
PEBAT
early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
combined oxidative phosphorylation deficiency 44
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.
COXPD44
combined oxidative phosphorylation deficiency 52
A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.
COXPD52
combined oxidative phosphorylation deficiency 53
A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33.
COXPD53
combined oxidative phosphorylation deficiency 54
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.
COXPD54
combined oxidative phosphorylation deficiency 55
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.
COXPD55
combined oxidative phosphorylation deficiency 56
A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25.
COXPD56
combined oxidative phosphorylation deficiency 57
A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.
COXPD57
hyperphosphatasia with impaired intellectual development syndrome
An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed.
HPMRS
Mabry disease
Mabry syndrome
hyperphosphatasia with mental retardation syndrome
hyperphosphatasia with impaired intellectual development syndrome 5
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12.
GPIBD11
HPMRS5
glycosylphosphatidylinositol biosynthesis defect 11
hyperphosphatasia with mental retardation syndrome 5
hyperphosphatasia with impaired intellectual development syndrome 1
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.
GPIBD2
HPMRS1
glycosylphosphatidylinositol biosynthesis defect 2
hyperphosphatasia with mental retardation syndrome 1
hyperphosphatasia with impaired intellectual development syndrome 2
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13.
GPIBD6
HPMRS2
glycosylphosphatidylinositol biosynthesis defect 6
hyperphosphatasia with mental retardation syndrome 2
hyperphosphatasia with impaired intellectual development syndrome 3
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15.
GPIBD8
HPMRS3
glycosylphosphatidylinositol biosynthesis defect 8
hyperphosphatasia with mental retardation syndrome 3
hyperphosphatasia with impaired intellectual development syndrome 4
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.
GPIBD62
HPMRS6
glycosylphosphatidylinositol biosynthesis defect 62
hyperphosphatasia with mental retardation syndrome 6
hyperphosphatasia with impaired intellectual development syndrome 6
A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.
GPIBD40
HPMRS4
glycosylphosphatidylinositol biosynthesis defect 40
hyperphosphatasia with mental retardation syndrome 4
retinal macular dystrophy
A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees.
MCDR
North Carolina macular dystrophy
A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
MCDR1
NCMD
central areolar pigment epithelial dystrophy
central retinal pigment epithelial dystrophy
progressive foveal dystrophy
retinal macular dystrophy 1
retinal macular dystrophy 3
A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1.
MCDR3
retinal macular dystrophy 4
A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21.
MCDR4
paroxysmal nonkinesigenic dyskinesia 3
A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.
generalized epilepsy and paroxysmal dyskinesia
paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2.
neurodevelopmental disorder with language delay and seizures
An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22.
early-onset dystonia and/or spastic paraplegia
A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1.
mitochondrial DNA depletion syndrome 16
A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3.
mitochondrial DNA depletion syndrome 16 (hepatic type)
mitochondrial DNA depletion syndrome 16B
A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.
mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
mitochondrial DNA depletion syndrome 17
A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome.
mitochondrial DNA depletion syndrome 18
A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3.
mitochondrial DNA depletion syndrome 19
A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3.
mitochondrial DNA depletion syndrome 20
A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12.
mitochondrial DNA depletion syndrome 20 (MNGIE type)
xanthinuria type I
A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23.
XAN1
xanthinuria type II
A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12.
XAN2
hereditary spastic paraplegia 70
A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3.
SPG70
autosomal recessive spastic paraplegia 70
hereditary spastic paraplegia 79A
A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13.
SPG79A
autosomal dominant spastic paraplegia 79A
hereditary spastic paraplegia 87
A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3.
SPG87
autosomal recessive spastic paraplegia 87
hereditary spastic paraplegia 88
A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2.
SPG88
autosomal dominant spastic paraplegia 88
hereditary spastic paraplegia 89
A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13.
SPG89
autosomal recessive spastic paraplegia 89
hereditary spastic paraplegia 90A
A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1.
SPG90A
autosomal dominant spastic paraplegia 90A
hereditary spastic paraplegia 90B
A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1.
SPG90B
autosomal recessive spastic paraplegia 90B
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance.
MC5DN4A
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance.
MC5DN4B
mitochondrial complex V (ATP synthase) deficiency nuclear type 5
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.
MC5DN5
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.
MC5DN7
autosomal recessive spinocerebellar ataxia with axonal neuropathy 3
An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3.
SCAN3
spinocerebellar ataxia with axonal neuropathy 3
spinocerebellar ataxia with axonal neuropathy type 3
carpal tunnel syndrome 1
A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1.
CTS1
carpal tunnel syndrome
A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.
CTS - Carpal tunnel syndrome
Median nerve entrapment
carpal tunnel median neuropathy
carpal tunnel syndrome 2
A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11.
CTS2
Yoon-Bellen neurodevelopmental syndrome
A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23.
YOBELN
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2.
NEDDFAC
chromosome 1p36.33 duplication syndrome
A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common.
CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT
early-onset epilepsy 2
An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2.
EPEO2
early-onset epilepsy-2 with or without developmental delay
early-onset epilepsy 3
An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3.
EPEO3
early-onset epilepsy 3 with or without developmental delay
Zaki syndrome
A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies.
childhood-onset neurodegeneration with brain atrophy
A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.
CONDBA
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
SMARCB1-deficient renal medullary carcinoma
A renal cell carcinoma that develops in the renal medulla.
RMC
kidney medullary carcinoma
medullary carcinoma of the kidney
medullary renal cell carcinoma
renal medullary carcinoma
renal cell carcinoma
A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
RCC
adenocarcinoma of kidney
hypernephroma
diphthamide deficiency syndrome
An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).
DEDSSH
craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
developmental delay with short stature, dysmorphic facial features, and sparse hair
diphthamide deficiency syndrome 1
A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.
DEDSSH1
DPH1 syndrome
Loucks-Innes syndrome
developmental delay with short stature, dysmorphic facial features, and sparse hair 1
diphthamide deficiency syndrome 2
A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.
DEDSSH2
developmental delay with short stature, dysmorphic facial features, and sparse hair 2
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.
NEDSFF
schwannomatosis 1
A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
neurofibromatosis 3
SMARCB1-related schwannomatosis
SWN1
schwannomatosis
A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.
SWN
neurilemmomatosis
neurinomatosis
schwannomatosis 2
A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2.
LZTR1-related schwannomatosis
SWN2
spinal neurofibromatosis
A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots.
FNSF
SNF
familial spinal neurofibromatosis
neurofibromatosis 1
A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
NF1
Peripheral Neurofibromatosis
Recklinghausen's neurofibromatosis
neurofibromatosis type I
von Recklinghausen Disease
Watson syndrome
A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.
Legius syndrome
A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.
LGSS
NF1-like syndrome
neurofibromatosis type 1-like syndrome
mitochondrial complex IV deficiency nuclear type 23
A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.
MC4DN23
Parkinson's disease 25
An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11.
PARK25
autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development
dopamine transporter deficiency syndrome
A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33.
DTDS
movement disease
A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
atypical dopamine transporter deficiency syndrome
A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia.
atypical DTDS
classic dopamine transporter deficiency syndrome
A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
PKDYS1
classic DTDS
infantile parkinsonism-dystonia 1
infantile parkinsonism-dystonia 2
A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3.
Brain dopamine-serotonin vesicular transport disease
PKDYS2
mitochondrial complex IV deficiency nuclear type 1
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
MC4DN1
COX deficiency, benign infantile mitochondrial myopathy
A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.
Isolated cytochrome C oxidase deficiency
mitochondrial complex IV deficiency nuclear type 3
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12.
MC4DN3
mitochondrial complex IV deficiency nuclear type 4
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.
MC4DN4
mitochondrial complex IV deficiency nuclear type 7
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.
MC4DN7
mitochondrial complex IV deficiency nuclear type 8
A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.
MC4DN8
mitochondrial complex IV deficiency nuclear type 10
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12.
MC4DN10
mitochondrial complex IV deficiency nuclear type 11
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44.
MC4DN11
mitochondrial complex IV deficiency nuclear type 12
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.
MC4DN12
mitochondrial complex IV deficiency nuclear type 14
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2.
MC4DN14
mitochondrial complex IV deficiency nuclear type 15
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1.
MC4DN15
mitochondrial complex IV deficiency nuclear type 16
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1.
MC4DN16
mitochondrial complex IV deficiency nuclear type 17
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33.
MC4DN17
mitochondrial complex IV deficiency nuclear type 18
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.
MC4DN18
mitochondrial complex IV deficiency nuclear type 19
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.
MC4DN19
mitochondrial complex IV deficiency nuclear type 20
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.
MC4DN20
mitochondrial complex IV deficiency nuclear type 21
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3.
MC4DN21
mitochondrial complex IV deficiency nuclear type 22
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2.
MC4DN22
metabolic dysfunction and alcohol associated liver disease
A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.
MetALD
metabolic dysfunction and alcohol related liver disease
steatotic liver disease
A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
Fatty change of liver
SLD
Steatosis of liver
alcoholic fatty liver
fatty liver disease
hepatic lipidosis
hepatic steatosis
cryptogenic steatotic liver disease
Schinzel Giedion syndrome
An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3.
SGS
Schinzel-Giedion midface retraction syndrome
inflammatory poikiloderma with hair abnormalities and acral keratoses
A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2.
IPHAK
LIPHAK
LIPHAK syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3.
PMSE
PMSE syndrome
Pretzel syndrome
neurodevelopmental disorder with hypotonia and speech delay
A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3.
NEDHSS
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.
NEDFBA
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2.
NEDDFL
chromosome 16p11.2 deletion syndrome, 593-kb
A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
Proximal 16p11.2 microdeletion syndrome
Mitchell syndrome appears to be the result of gain-of-function variants in the ACOX1 gene that increase reactive oxygen species production without altering very-long-chain fatty acid production.
Mitchell syndrome
A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
retinal macular dystrophy 2
A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32.
MCDR2
familial multiple lipomatosis
A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance.
lipomatosis
multiple lipomatosis
early-onset vitamin B6-dependent epilepsy 4
A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.
AASA dehydrogenase deficiency
EPEO4
PDE-ALDH7A1
antiquitin deficiency
pyridoxine-dependent epilepsy
An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.
peeling skin syndrome 1
A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33.
PSS1
generalized inflammatory peeling skin syndrome
inflammatory peeling skin syndrome
peeling skin syndrome type B
peeling skin syndrome 2
A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2.
APSS
acral peeling skin syndrome
localized peeling skin syndrome
PSS2
peeling skin syndrome 3
A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13.
peeling skin syndrome type A
PSS3
peeling skin syndrome 4
A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1.
AREI
autosomal recessive exfoliative ichthyosis
exfoliative ichthyosis
ichthyosis exfoliativa
PSS4
ichthyosis bullosa of Siemens-like
peeling skin syndrome 5
A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.
PSS5
peeling skin syndrome 6
A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3.
PSS6
PLACK syndrome
An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15.
peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Borrelia miyamotoi disease
A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses.
BMD
hard tick-borne relapsing fever
This disease occurs primarily in patients with cystic fibrosis. Cases have been seen where the disease develops years after initial infection.
cepacia syndrome
An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission.
adult respiratory distress syndrome
A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
ARDS
Non-cardiogenic pulmonary edema
Shock lung
acute respiratory distress syndrome
adult RDS
Sifrim-Hitz-Weiss syndrome
An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31.
CHD4 Neurodevelopmental Disorder
CHD4-related neurodevelopmental disorder
CHD4-related neurodevelopmental syndrome
SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
SIHIWES
PAX6 gene variation results in a number of eye diseases, including aniridia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all. O'Donnell-Pappas syndrome/foveal hypoplasia-presenile cataract syndrome refers to the subset of FVH1 with presenile cataract. This characteristic is not sufficient for distinction from FVH1 at this time [JAB, 2024-01-23].
foveal hypoplasia 1
A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
FVH1
foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract
O'Donnell-Pappas syndrome
foveal hypoplasia-presenile cataract syndrome
FHONDA syndrome refers to a subset of FVH2 with both optic nerve decussation defects and anterior segment dysgenesis. These characteristics are not sufficient for distinction from FVH2 at this time [JAB, 2024-01-23].
foveal hypoplasia 2
A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen.
FVH2
foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis
FHONDA
FHONDA syndrome
foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis
PAX6 gene variation may result in a number of different eye diseases, including foveal hypoplasia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all [JAB, 2024-01-23].
aniridia 1
An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.
aniridia
An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
Aplasia of iris
isolated aniridia
long QT syndrome 16
A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common.
LQT16
arrhythmogenic left ventricular cardiomyopathy
An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle.
ALVC
left ventricular ACM
left-dominant arrhythmogenic cardiomyopathy
arrhythmogenic biventricular cardiomyopathy
An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns.
biventricular ACM
There may be a distinction between patients with truncation mutations and those without, with the more severe phenotypes corresponding to the latter.
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.
NEDHLSS
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14.
SPATCCM
syndromic X-linked intellectual developmental disorder bain type
A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
HNRNPH2-RNDD
HNRNPH2-related neurodevelopmental disorder
MRXSB
Mental Retardation, X-linked, Syndrome, Bain Type
Tentative disease: two patients in one family have been identified to date [JAB, 2024-03-18].
Halperin-Birk syndrome
A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22.
HLBKS
NEDSOSB
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3.
ECHS1D
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
HMG-CoA lyase deficiency
HMGCL deficiency
HMGCLD
hydroxymethylglutaric aciduria
HL deficiency
neurodevelopmental disorder with spastic paraplegia and microcephaly
An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.
GPT2 deficiency
MRT49
NEDSPM
autosomal recessive mental retardation 49
glutamate pyruvate transaminase 2 deficiency
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3.
NEDCASB
congenital glutamine deficiency
An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3.
GLND
congenital systemic glutamine synthase deficiency
developmental and epileptic encephalopathy 116
A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.
DEE116
primary pigmented nodular adrenocortical disease 1
A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2.
PPNAD1
primary pigmented nodular adrenocortical disease 2
A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2.
PPNAD2
primary pigmented nodular adrenocortical disease 3
A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3.
PPNAD3
primary pigmented nodular adrenocortical disease 4
A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene.
PPNAD4
chromosome 19p13 duplication syndrome
KRT1-related nonepidermolytic palmoplantar keratoderma
A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.
KRT1-related NEPPK
epidermolytic palmoplantar keratoderma 2
An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.
EPPK2
epidermolytic palmoplantar keratoderma
A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.
EPPK
epidermolytic palmoplantar keratoderma 1
An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2.
EPPK1
focal palmoplantar and gingival keratosis
A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva.
focal palmoplantar and gingival hyperkeratosis syndrome
palmoplantar keratoderma and woolly hair
A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.
PPKWH
keratoderma with woolly hair type IV
woolly hair-palmoplantar keratoderma syndrome type 4
Nagashima-type palmoplantar keratosis
A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.
NPPK
PPKN
palmoplantar keratoderma nagashima type
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.
CAMRQ syndrome 1
CAMRQ1
DES-VLDLR
VLDLR cerebellar hypoplasia
VLDLR-CH
VLDLR-associated cerebellar hypoplasia
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1
cerebellar ataxia, mental retardation, and disequilibrium syndrome 1
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
cerebellar hypoplasia, VLDLR-associated
dysequilibrium syndrome-VLDLR
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2
A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3.
CAMRQ syndrome 2
CAMRQ2
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2
cerebellar ataxia, mental retardation, and disequilibrium syndrome 2
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Revising nomeclature 2024, OMIM update.[LS]
autosomal recessive spinocerebellar ataxia 34
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1.
CAMRQ syndrome 3
CAMRQ3
SCAR34
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3
cerebellar ataxia, mental retardation, and disequilibrium syndrome 3
spinocerebellar ataxia, autosomal recessive 34
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.
CAMRQ syndrome 4
CAMRQ4
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4
cerebellar ataxia, mental retardation, and disequilibrium syndrome 4
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
glucose transporter type 1 deficiency syndrome
A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2.
GLUT1DS
glucose transporter type 1 deficiency syndrome 1
A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.
De Vivo disease
GLUT1 deficiency syndrome 1
GLUT1DS1
classic GLUT1 deficiency syndrome
classic GLUT1-DS
classic glucose transporter type 1 deficiency syndrome
encephalopathy due to GLUT1 deficiency
glycogenosis type XI is a historical and now discouraged synonym.
Fanconi-Bickel syndrome
A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
FBS
glycogenosis type XI
glycogenosis, Fanconi type
glucose-galactose malabsorption
A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3.
GGM
SGLT1 deficiency
monosaccharide malabsorption
dialysis disequilibrium syndrome
A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.
DDS
dialysis dysequilibrium syndrome
Only 1 patient reported as of 2024-08-21.
spermatogenic failure 66
A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2.
SPGF66
spermatogenic failure 67
A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31.
SPGF67
spermatogenic failure 68
A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1.
SPGF68
spermatogenic failure 69
A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2.
SPGF69
spermatogenic failure 70
A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3.
SPGF70
spermatogenic failure 71
A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.
SPGF71
spermatogenic failure 72
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
SPGF72
spermatogenic failure 73
A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33.
SPGF73
spermatogenic failure 74
A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33.
SPGF74
spermatogenic failure 75
A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3.
SPGF75
spermatogenic failure 76
A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1.
SPGF76
spermatogenic failure 77
A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23.
SPGF77
spermatogenic failure 78
A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11.
SPGF78
spermatogenic failure 79
A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23.
SPGF79
spermatogenic failure 80
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3.
SPGF80
spermatogenic failure 81
A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12.
SPGF81
spermatogenic failure 82
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32.
SPGF82
spermatogenic failure 83
A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3.
SPGF83
spermatogenic failure 84
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23.
SPGF84
Only 1 family reported as of 2024-08-21.
spermatogenic failure 85
A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15.
SPGF85
spermatogenic failure 86
A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3.
SPGF86
spermatogenic failure 87
A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33.
SPGF87
spermatogenic failure 88
A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33.
SPGF88
spermatogenic failure 89
A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21.
SPGF89
spermatogenic failure 90
A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31.
SPGF90
spermatogenic failure 91
A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3.
SPGF91
spermatogenic failure 92
A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31.
SPGF92
spermatogenic failure 93
A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4.
SPGF93
spermatogenic failure 94
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23.
SPGF94
spermatogenic failure 95
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2.
SPGF95
X-linked spermatogenic failure 4
A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1.
SPGFX4
X-linked spermatogenic failure 5
A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23.
SPGFX5
X-linked spermatogenic failure 6
A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2.
SPGFX6
X-linked spermatogenic failure 7
A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3.
SPGFX7
X-linked spermatogenic failure 8
A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1.
SPGFX8
intellectual disability and myopathy syndrome
A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12.
ABCC9-related intellectual disability and myopathy
AIMS
IDMYS
autosomal dominant nonsyndromic deafness 37
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1.
DFNA37
autosomal dominant deafness 37
autosomal dominant nonsyndromic deafness 80
An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11.
DFNA80
autosomal dominant deafness 80
autosomal dominant nonsyndromic deafness 82
An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1.
DFNA82
autosomal dominant deafness 82
autosomal dominant nonsyndromic deafness 84
An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34.
DFNA84
autosomal dominant deafness 84
autosomal dominant nonsyndromic deafness 85
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36.
DFNA85
autosomal dominant deafness 85
autosomal dominant nonsyndromic deafness 87
An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21.
DFNA87
autosomal dominant deafness 87
autosomal dominant nonsyndromic deafness 90
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12.
DFNA90
autosomal dominant deafness 90
Only one family reported as of 2024-09-20.
autosomal dominant nonsyndromic deafness 81
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11.
DFNA81
autosomal dominant deafness 81
autosomal dominant nonsyndromic deafness 83
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13.
DFNA83
autosomal dominant deafness 83
autosomal dominant nonsyndromic deafness 86
An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11.
DFNA86
autosomal dominant deafness 86
autosomal dominant nonsyndromic deafness 88
An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34.
DFNA88
autosomal dominant deafness 88
autosomal dominant nonsyndromic deafness 89
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22.
DFNA89
autosomal dominant deafness 89
familial renal glucosuria
A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2.
FRG
SGLT2 deficiency
familial renal glycosuria
hereditary renal glycosuria
renal glycosuria
A renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction.
renal diabetes
renal glucosuria
chromosome 11 partial duplication syndrome
A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11.
partial duplication of chromosome 11
partial trisomy 11
autoinflammation, antibody deficiency, and immune dysregulation syndrome
An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23.
APLAID
autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
glycine encephalopathy 1
A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24.
GCE1
rhabdoid tumor predisposition syndrome 1
A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11.
RTPS1
mitochondrial trifunctional protein deficiency 1
A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein.
MTPD1
ring chromosome syndrome
A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable.
ring syndrome
ring chromosome
ring chromosome 14 syndrome
A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure.
r(14) syndrome
r14 syndrome
ring 14 syndrome
ring 14
ring chromosome 14
ring chromosome 20 syndrome
A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure.
r(20) syndrome
r20 syndrome
ring 20 syndrome
ring chromosome 20 epilepsy syndrome
ring 20
ring chromosome 20
B-lymphoblastic leukemia with MEF2D rearrangement
A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement.
B-lymphoblastic leukaemia with MEF2D rearrangement
B-lymphoblastic leukemia/lymphoma
A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
B lymphoblastic leukemia/lymphoma
B-ALL
precursor B lymphoblastic lymphoma/leukemia
B-lymphoblastic leukemia with MYC rearrangement
A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement.
B Acute Lymphoblastic Leukemia with MEF2D Rearrangement
B-lymphoblastic leukaemia with MYC rearrangement
B-lymphoblastic leukemia with NUTM1 rearrangement
A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement.
B-lymphoblastic leukaemia with NUTM1 rearrangement
B-lymphoblastic leukemia with PAX5alt
A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions.
B-Acute Lymphoblastic Leukemia with PAX5 Alteration
B-lymphoblastic leukaemia with PAX5alt
B-lymphoblastic leukemia with TCF3-HLF fusion
A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement.
B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Fusion
B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement
B-lymphoblastic leukaemia with TCF3::HLF fusion
B-lymphoblastic leukemia with TCF3::HLF fusion
B-lymphoblastic leukemia with ZNF384 rearrangement
A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement.
B-lymphoblastic leukaemia with ZNF384 rearrangement
acute myeloid leukemia with CBFA2T3-GLIS2 fusion
An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene.
Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2
Acute myeloid leukaemia with CBFA2T3::GLIS2 fusion
acute myeloid leukemia with CBFA2T3::GLIS2 fusion
acute myeloid leukemia with inv(16)(p13q24)
acute myeloid leukemia with KAT6A-CREBBP fusion
An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion.
Acute myeloid leukaemia with KAT6A::CREBBP fusion
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
acute myeloid leukemia with KAT6A::CREBBP fusion
acute myeloid leukemia with FUS-ERG fusion
An acute myeloid leukemia associated with FUS-ERG gene fusion.
Acute myeloid leukaemia with FUS::ERG fusion
acute myeloid leukemia with FUS::ERG fusion
acute myeloid leukemia with t(16;21)(p11.2;q22)
acute myeloid leukemia with MNX1-ETV6 fusion
An acute myeloid leukemia associated with MXN1-ETV6 gene fusion.
Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6
Acute myeloid leukaemia with MNX1::ETV6 fusion
acute myeloid leukemia with MNX1::ETV6 fusion
acute myeloid leukemia with t(7;12)(q36;p13)
acute myeloid leukemia with NPM1-MLF1 fusion
An acute myeloid leukemia associated with NPM1-MLF1 gene fusion.
Acute myeloid leukaemia with NPM1::MLF1 fusion
acute myeloid leukemia with NPM1::MLF1 fusion
acute myeloid leukemia with t(3;5)(q25;q35)
sitosterolemia 1
A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21.
cardiovascular-kidney-metabolic syndrome
A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity.
CKM syndrome
CRM syndrome
cardio-kidney-metabolic syndrome
cardiovascular-renal-metabolic syndrome
mirror movements 1
A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that has_material_basis_in heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance.
congenital mirror movement disorder
A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.
familial congenital controlateral synkinesia
familial congenital mirror movements
hereditary congenital controlateral synkinesia
hereditary congenital mirror movements
isolated congenital controlateral synkinesia
isolated congenital mirror movements
mirror movements 2
A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.
mirror movements 4
A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13.
mirror movements 3
A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13.
hereditary spastic paraplegia 18A
A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11.
autosomal dominant spastic paraplegia 18
spastic paraplegia 18A
hereditary spastic paraplegia 18
A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
SPG18
hereditary spastic paraplegia 18B
A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11.
IDMDC
autosomal recessive spastic paraplegia 18
autosomal recessive spastic paraplegia type 18
intellectual disability, motor dysfunction and joint contractures
spastic paraplegia 18B
hereditary spastic paraplegia 72B
A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31.
autosomal recessive spastic paraplegia 72
spastic paraplegia 72B
hereditary spastic paraplegia 91
A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
autosomal dominant spastic paraplegia 91
autosomal dominant spastic paraplegia 91 with or without cerebellar ataxia
hereditary spastic paraplegia 92
A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23.
SPG92
autosomal recessive spastic paraplegia 92
hereditary spastic paraplegia 93
A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.
autosomal recessive spastic paraplegia 93
hereditary spastic paraplegia 30B
A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37.
autosomal recessive spastic paraplegia 30
hereditary spastic paraplegia 30
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.
SPG30
autosomal spastic paraplegia type 30
hereditary spastic paraplegia 30A
A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37.
autosomal dominant spastic paraplegia 30
spastic paraplegia 30A
cherubism
A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling.
bone resorption disease
A bone remodeling disease that results in an abnormal decrease of bone density or mass.
cherubism 2
A cherubism that has_material_basis_in homozygous mutation in the OGFRL1 gene on chromosome 6q13.
Ramon syndrome
A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth.
neurodevelopmental disorder with seizures and gingival overgrowth
A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles.
Nil-Deshwar neurodevelopmental syndrome
A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13.
Fliedner-Zweier syndrome
A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22.
SCAF4-related syndromic intellectual disability
desmosterolosis
A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.
Usher syndrome type 1B
An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13.
USH1B
Usher syndrome type IB
Usher syndrome type 1
An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
US1
USH1
hamartoma syndrome
A syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer.
hamartoma
A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.
hamartomatous polyp
congenital variant of Rett syndrome
A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.
FOXG1-related encephalopathy
FOXG1 syndrome
Rett syndrome, congenital variant
atypical Rett syndrome
alcohol-associated liver disease
A liver disease resulting from excessive alcohol intake.
ALD
alcohol-related liver disease
alcoholic liver disease
alpha-gal syndrome
An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products.
alpha-gal allergy
delayed anaphylaxis to red meat
galactose-alpha-1,3-galactose allergy
galactose-α-1,3-galactose allergy
mammalian meat allergy
red meat allergy
α-gal allergy
α-gal syndrome
Lafora disease 1
A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24.
progressive myoclonic epilepsy 2A
muscle dysmorphic disorder
A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build.
bigorexia
bigorexia nervosa
body dysmorphic disorder with muscle dysmorphia
muscle dysmorphia
reverse anorexia
subcutaneous panniculitis-like T-cell lymphoma
A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance.
SPTCL
soft tissue sarcoma
A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels).
sarcoma
A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
connective and soft tissue neoplasm
tumor of soft tissue and skeleton
oropharyngeal squamous cell carcinoma
An oropharynx cancer that derives_from squamous epithelial cells.
OPSCC
epidermoid carcinoma of the oropharynx
oropharynx cancer
A pharynx cancer that is located_in the oropharynx.
Oropharyngeal carcinoma
malignant oropharyngeal tumor
malignant tumor of oropharynx
malignant tumour of mesopharynx
oropharyngeal cancer
lipofibromatosis
A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally.
infantile myofibromatosis 1
An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32.
infantile myofibromatosis
A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
congenital generalized fibromatosis
infantile myofibromatosis 2
An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
Snijders Blok-Campeau syndrome
An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13.
SNIBCPS
autosomal recessive nonsyndromic deafness 122
An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by the second or third decade and has_material_basis_in compound heterozygous mutation in the TMTC4 gene on chromosome 13q32.
DFNB122
autosomal recessive nonsyndromic deafness 123
An autosomal recessive nonsyndromic deafness characterized by bilateral severe to profound hearing impairment with onset as early as the first decade of life that has_material_basis_in homozygous mutation in the STX4 gene on chromosome 16p11.
DFNB123
autosomal recessive nonsyndromic deafness 117
An autosomal recessive nonsyndromic deafness characterized by bilateral moderate-to-profound sensorineural deafness with onset in early childhood that has_material_basis_in homozygous mutation in the CLRN2 gene on chromosome 4p15.
DFNB117
autosomal recessive deafness 117
autosomal recessive nonsyndromic deafness 118
An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression.
DFNB118
autosomal recessive nonsyndromic deafness 119
An autosomal recessive nonsyndromic deafness characterized by mild to profound sensorineural hearing loss that has_material_basis_in compound heterozygous mutation in the AFG2B gene on chromosome 15q21.
DFNB119
autosomal recessive nonsyndromic deafness 120
An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss that has_material_basis_in homozygous mutation in the MINAR2 gene on chromosome 5q23.
DFNB120
autosomal recessive nonsyndromic deafness 121
An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual moderate sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13.
DFNB121
autosomal recessive nonsyndromic deafness 124
An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.
DFNB124
autosomal recessive deafness 124
Ferguson-Bonni neurodevelopmental syndrome
A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay that has_material_basis_in homozygous mutation in the ANAPC7 gene on chromosome 12q24.
congenital hypomyelinating neuropathy
A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination.
CHN
congenital hypomyelination neuropathy
neuromuscular disease
A neuropathy that affect the nerves that control the voluntary muscles.
congenital hypomyelinating neuropathy 2
A congenital hypomyelinating neuropathy that has_material_basis_in heterozygous mutation in the MPZ gene on chromosome 1q23.
CHN2
congenital hypomyelinating neuropathy 3
A congenital hypomyelinating neuropathy characterized by polyhydramnios, severe hypotonia, profoundly impaired psychomotor development, severely decreased nerve conduction properties, hypomyelination, and cerebral and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CNTNAP1 gene on chromosome 17q21. Contractures may also manifest.
CHN3
congenital hydrocephalus
A hydrocephalus characterized by fetal or congenital onset.
hydrocephalus
A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
congenital hydrocephalus 1
A congenital hydrocephalus that has_material_basis_in homozygous mutation in the CCDC88C gene on chromosome 14q32.
congenital hydrocephalus 2
A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23.
congenital hydrocephalus 3
A congenital hydrocephalus that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.
congenital hydrocephalus 4
A congenital hydrocephalus that has_material_basis_in heterozygous mutation in the TRIM71 gene on chromosome 3p22.
X-linked congenital hydrocephalus
A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development.
X-linked hydrocephalus
normal pressure hydrocephalus 1
A normal pressure hydrocephalus that has_material_basis_in heterozygous mutation in the CFAP43 gene on chromosome 10q25.
normal pressure hydrocephalus
A communicating hydrocephalus characterized by normal cerebrospinal fluid pressure, gait instability, cognitive decline, and impaired bladder control. Onset is usually in late adulthood.
Low pressure hydrocephalus
NPH
autosomal recessive congenital indifference to pain
A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common.
channelopathy-associated insensitivity to pain
congenital indifference to pain
hereditary sensory and autonomic neuropathy type 2D
A hereditary sensory and autonomic neuropathy type 2 characterized by congenital to pediatric onset of distal loss of pain and temperature sensation and variable autonomic dysfunction that has_material_basis_in homozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24.
HSAN2D
hereditary sensory and autonomic neuropathy type IID
lobodontia
A tooth disease characterized by supernumerary cusps and a single pyramid-shaped molar root that has_material_basis_in heterozygous mutation in the ASCL5 gene on chromosome 1q32. Canines and premolars may show a tritubercular structure or prominent cusp tips.
craniosynostosis-scoliosis syndrome
A vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mostly atrial septal defect that has_material_basis_in homozygous mutation in the DHRS3 gene on chromosome 1p36, resulting in pathological excess of plasma retinoic acid.
Davis-Wells syndrome
A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31.
Ebstein-Bezieau neurodevelopmental syndrome
A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13.
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24.
NEDCRO
Yu-Kury neurodevelopmental syndrome
An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, motor delay, and intellectual disability that has_material_basis_in heterozygous mutation in the PSMC5 gene on chromosome 12q23.
neurodevelopmental disorder with seizures, hypotonia, and variable spasticity
An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42.
NEDSHS
neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter
An autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower limbs with hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutations in the RPS6KC1 gene on chromosome 1q32.
NEDSCW
X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities
A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor or absent speech, and early-onset epilepsy that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11. Females may be less severely affected than males.
NEDXSB
STAD syndrome
A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13.
skeletal dysplasia, tooth anomalies, and developmental delay syndrome
Luo-Agrawal neurodevelopmental syndrome
A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24.
small fiber neuropathy
A neuropathy that solely or predominantly affects small myelinated A-delta (Aδ) fibers and unmyelinated C fibers resulting in sensory changes, autonomic dysfunction, or both. Common symptoms include burning, sharp and/or deep pain, allodynia, hyperalgesia, thermal and pinprick hypoesthesia, dry mouth, dry eyes, constipation, bladder incontinence, orthostatic dizziness, sexual dysfunction, red or white skin discoloration, or trouble sweating.
SFN
measles inclusion body encephalitis
A viral encephalitis that has_material_basis_in measles virus (Morbillivirus hominis) and occurs in immunocompromised patients with acute onset of progressive seizures days to months after infection or vaccination with the live-attenuated vaccine, resulting near universally in death.
MIBE
immunosuppressive measles encephalitis
post-vaccinal encephalitis
Encephalitis following immunization procedures
Postvaccinal encephalomyelitis
viral encephalitis
An encephalitis that involves inflammation of the brain caused by viral infection.
epidemic encephalitis
Meckel syndrome 14
A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31.
MKS14
dentin dysplasia type IA
A dentin dysplasia characterized by oligodontia, microdontia with very globular and malformed teeth and incisal notches, taurodontism of the molar teeth, and short roots that has_material_basis_in homozygous mutation in the SMOC2 gene on chromosome 6q27.
atypical dentin dysplasia due to SMOC2 deficiency
dentin dysplasia
A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.
Dentinal dysplasia
dentin dysplasia type IB
A dentin dysplasia characterized by teeth with crowns that have normal morphology and roots that are short, blunt, and malformed, resulting in tooth hypermobility and subsequent exfoliation of permanent dentition starting in the second decade that has_material_basis_in heterozygous mutation in the VPS4B gene on chromosome 18q21.
dentin dysplasia type IC
A dentin dysplasia characterized by tooth crowns that are normal in morphology, form, and color and roots that are short, blunt, and malformed, resulting in severe tooth hypermobility starting in late childhood followed by spontaneous tooth loss around 20 years of age, that has_material_basis_in heterozygous mutation in the SSUH2 gene on chromosome 3p25.
dentin dysplasia type II
A dentin dysplasia characterized by primary teeth with discoloration and obliteration of the pulp chamber, and secondary teeth with normal coloration, pulps shaped like thistles or tubes, and ovoid pulp stones that has_material_basis_in heterozygous mutation in the DSPP gene on chromosome 4q22.
DD-II
coronal dentin dysplasia
dentin dysplasia with sclerotic bones
A syndrome characterized by osteosclerosis of all long bones with heavy cortical bone and narrowed or occluded marrow spaces, and apparently pulpless teeth with radiolucent chevrons; short, blunted roots; and radiolucent apical area that has_material_basis_in autosomal dominant inheritance.
dentin dysplasia-sclerotic bones syndrome
Popov-Chang syndrome
An autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that has_material_basis_in heterozygous mutation in the YWHAZ gene on chromosome 8q22.
neurodevelopmental disorder with speech delay and behavioral abnormalities
An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22.
NEDSBH
Harel-Tora neurodevelopmental syndrome
An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21.
developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies
An autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to moderate neurodevelopmental delay, usually with hypotonia, delayed walking, impaired intellectual development, and poor speech acquisition, that has_material_basis_in homozygous mutation in the PAN2 gene on chromosome 12q13.
DEDCRF
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25.
NEDSZFB
neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21.
NEDBAC
Ramond-Elliott neurodevelopmental syndrome
An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_in heterozygous mutation in the TRA2B gene on chromosome 3q27.
progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia
A congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech; progressive, severe microcephaly; and notable structural brain abnormalities apparent on brain imaging, including simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, enlarged ventricles, and cerebellar hypoplasia, that has_material_basis_in heterozygous mutation in the CRNKL1 gene on chromosome 20p11.
MGCH
developmental delay with sleep apnea
An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome 2p23.
DDSA
neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia
A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressive spastic paraplegia late in the first decade, resulting in gait abnormalities but not loss of ambulation, that has_material_basis_in homozygous mutation in the TBCB gene on chromosome 19q13.
NEDBSPG
neurocardiorenal malformation syndrome
A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26.
immune dysregulation, neurodevelopmental defects, and colitis
A physical disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues that has_material_basis_in homozygous or compound heterozygous mutation in the ITGAV gene on chromosome 2q32.
IDNDC
Valence-Farazi cerebellar ataxia syndrome
An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21.
VAFCAS
adult-onset leukoencephalopathy without lacunae
A leukodystrophy characterized by a diffuse vascular leukoencephalopathy without lacunar infarct and a hippocampal type of memory defect with onset in the sixth to seventh decade that has_material_basis_in heterozygous mutation in the LAMB1 gene on chromosome 7q31.
LUCAO
dyschromatosis, ichthyosis, deafness, and atopic disease
A syndrome characterized by generalized hyperpigmentation with hypopigmented spots, ichthyosis, sensorineural hearing loss, atopic dermatitis, asthma, and allergic rhinitis that has_material_basis_in compound heterozygous mutation in the OSBPL2 gene on chromosome 20q13.
DIDA
dental radicular dysplasia
A mouth disease characterized by taurodontism, unseparated roots, long roots, tooth agenesis, torus palatinus, and torus mandibularis that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.
DNRD
spermatogenic failure 96
A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia with reduced numbers of spermatocytes and no spermatids seen in testicular tissue, resulting from apparent arrest of spermatogenesis at the zygotene stage, that has_material_basis_in homozygous mutation in the SPATA22 gene on chromosome 17p13.
SPGF96
spermatogenic failure 97
A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella, and a reduced concentration of sperm that has_material_basis_in homozygous mutation in the NUP210L gene on chromosome 1p21.
SPGF97
spermatogenic failure 98
A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP54 gene on chromosome 12q23.
SPGF98
spermatogenic failure 99
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced sperm progressive motility, sperm with a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath that has_material_basis_in homozygous mutation in the SEPTIN4 gene (603696) on chromosome 17q22.
SPGF99
spermatogenic failure 100
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia resulting from multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH12 gene on chromosome 3p14.
SPGF100
spermatogenic failure 101
A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ATG4D gene on chromosome 19p13.
SPGF101
spermatogenic failure 102
A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm in reduced concentration that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella that has_material_basis_in homozygous mutation in the CFAP206 gene on chromosome 6q15.
SPGF102
familial juvenile hyperuricemic nephropathy 3
An autosomal dominant tubulointerstitial kidney disease characterized by high serum uric acid and chronic renal failure with autosomal dominant inheritance that has_material_basis_in linkage to a 5.5 Mb region on chromosome 2p22.1-p21 between SNPs rs372139 and rs896986.
HNFJ3
multiple mitochondrial dysfunctions syndrome 7
A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23.
MMDS7
episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy
A multiple mitochondrial dysfunctions syndrome characterized by childhood onset of progressive muscle weakness and exercise intolerance, with episodic exacerbation, that has_material_basis_in homozygous mutation in the FDX2 gene on chromosome 19p13. Additional more variable features include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy.
MEOAL
MMDS8
multiple mitochondrial dysfunctions syndrome 8
auditory neuropathy and optic atrophy
A multiple mitochondrial dysfunctions syndrome characterized by bilateral auditory neuropathy and optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25.
MMDS9A
multiple mitochondrial dysfunctions syndrome 9A
vestibulocochlear nerve disease
acoustic nerve disease
optic nerve disease
A cranial nerve disease that is located_in the optic nerve.
disorder of the second nerve
optic nerve disorder
optic neuropathy
multiple mitochondrial dysfunctions syndrome 9B
A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25.
MMDS9B
multiple mitochondrial dysfunctions syndrome 10
A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11.
MMDS10
Al Kaissi syndrome
An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability that has_material_basis_in homozygous mutation in the CDK10 gene on chromosome 16q24.
autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures
An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.
NDHMSR
cerebellar atrophy, developmental delay, and seizures
An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in the KCNMA1 gene on chromosome 10q22.
CADEDS
cerebellar atrophy with seizures and variable developmental delay
An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21.
CASVDD
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23.
CIMAH
MTHFD1 deficiency
methylenetetrahydrofolate dehydrogenase 1 deficiency
megaloblastic anemia
A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
Grasbeck-Imerslund syndrome
Imerslund-Grasbeck syndrome
MGA1 Norwegian type
RH-MGA1
megaloblastic anaemia
recessive hereditary megaloblastic anaemia 1
recessive hereditary megaloblastic anemia 1
IGS
congenital facial palsy with ptosis and velopharyngeal dysfunction
A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11.
FPVEPD
early childhood-onset progressive leukodystrophy
A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13.
PLDECO
alkaline ceramidase 3 deficiency
early-onset progressive encephalopathy with brain atrophy and spasticity
An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25.
PEBAS
HELIX syndrome
A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32.
hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia
immunodeficiency, developmental delay, and hypohomocysteinemia
An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31.
IMDDHH
joint laxity, short stature, and myopia
A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11.
JLSM
Mendez-Johnson immunoneurologic syndrome
A syndrome characterized by failure to thrive with poor overall growth and additional highly variable features including immune dysregulation and neurologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the RNU6ATAC gene on chromosome 9q34.
mitochondrial myopathy and ataxia
A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22.
mitochondrial myopathy
A myopathy that is characterized by mitochondrial dysfunction.
mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures
An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12.
NEMMLAS
lactic acidosis
A metabolic acidosis characterized by buildup of lactate.
neonatal severe encephalopathy with lactic acidosis and brain abnormalities
A mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities, associated with increased serum lactate that has_material_basis_in compound heterozygous mutation in the LIPT2 gene on chromosome 11q13.
NELABA
lipoyl transferase 2 deficiency
lipoyltransferase 2 deficiency
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13.
NDAGSCW
neurodevelopmental disorder with microcephaly, ataxia, and seizures
An autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SARS1 gene on chromosome 1p13.
NEDMAS
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21.
NDMSCA
neurodevelopmental disorder with variable motor and speech impairment
An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21.
NEDMIAL
Pilarowski-Bjornsson syndrome
An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q.
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6
A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15.
PEOB6
chronic progressive external ophthalmoplegia
A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions.
CPEO
PEO
progressive external ophthalmoplegia
bone deterioration disease
A bone structure disease that results_in change or damage of structure located_in bone.
ischemic bone disease
A bone disease that results_in an interruption of blood supply located_in bone.
obsolete mitochondrial disease
obsolete olivopontocerebellar atrophy V
OPCA type 5
OPCA with dementia and extrapyramidal signs
dysbaric osteonecrosis
An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone.
Caisson disease of bone
DON
metaphyseal dysplasia
An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.
Bakwin-Krida syndrome
Pyle's disease
Pyle-Cohn syndrome
Jansen's metaphyseal chondrodysplasia
A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Jansen Disease
Jansen Metaphyseal Dysostosis
Jansen metaphyseal chondrodysplasia
Murk Jansen Type Metaphyseal Chondrodysplasia
Schmid metaphyseal chondrodysplasia
A metaphyseal dysplasia that results_in dwarfism and bowed legs.
Japanese type spondylometaphyseal dysplasia
Schmid type metaphyseal dysplasia
obsolete McKusick type metaphyseal dysplasia
obsolete Shwachman-Diamond type metaphyseal dysplasia
obsolete Pyles dysplasia
otospondylomegaepiphyseal dysplasia, autosomal recessive
An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
NANCE-INSLEY SYNDROME
NANCE-SWEENEY CHONDRODYSPLASIA
OSMEDB
spondyloepimetaphyseal dysplasia, Strudwick type
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
autosomal recessive spinocerebellar ataxia 16
An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
SCAR16
spondyloepimetaphyseal dysplasia, Missouri type
A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.
fibrous dysplasia
A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
craniodiaphyseal dysplasia
An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
craniometaphyseal dysplasia
An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
obsolete endosteal hyperostosis
A hyperostosis of endosteal bone.
Worth syndrome
A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
Worth's syndrome
autosomal dominant endosteal hyperostosis
autosomal dominant osteosclerosis
benign form of Worth hyperostosis corticalis generalisata with torus platinus
pycnodysostosis
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
axial osteomalacia
An osteosclerosis that results_in coarsening located_in trabecular bone.
fibrogenesis imperfecta ossium
A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
Baker's disease
hypochondroplasia
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
autosomal recessive spinocerebellar ataxia 18
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.
SCAR18
achondrogenesis
An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
hypochondrogenesis
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
Kniest dysplasia
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
Stickler syndrome
A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
pseudoachondroplasia
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
pseudoachondroplastic dysplasia
obsolete trichorhinophalangeal syndrome I
acromesomelic dysplasia, Maroteaux type
An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13.
acromesomelic dysplasia-1
acromesomelic dysplasia, Hunter-Thompson type
An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot.
acromesomelic dwarfism
acromesomelic dysplasia-2C
acromesomelic dysplasia, Grebe type
An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11.
acromesomelic dysplasia-2A
grebe chondrodysplasia
pseudohypoparathyroidism type 1A
A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.
Albright hereditary osteodystrophy
Albright's hereditary osteodystrophy
PHP Ia
achondrogenesis type IA
An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine.
achondrogenesis Houston-Harris type
achondrogenesis type IB
An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
achondrogenesis Fraccaro type
achondrogenesis type II
An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
autosomal recessive spinocerebellar ataxia 15
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29.
SCAR15
autosomal recessive spinocerebellar ataxia 14
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.
SCAR14
autosomal recessive spinocerebellar ataxia 7
An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
SCAR7
autosomal recessive spinocerebellar ataxia 12
An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.
SCAR12
autosomal recessive spinocerebellar ataxia 2
An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.
SCAR2
autosomal recessive spinocerebellar ataxia 13
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24.
SCAR13
autosomal recessive spinocerebellar ataxia 11
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32.
SCAR11
autosomal recessive spinocerebellar ataxia 17
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24.
SCAR17
autosomal recessive spinocerebellar ataxia 19
An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36.
Lichtenstein-Knorr syndrome
SCAR19
autosomal recessive spinocerebellar ataxia 20
An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.
SCAR20
Charcot-Marie-Tooth disease type 5
A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
hereditary motor and sensory neuropathy with pyramidal features
Charcot-Marie-Tooth disease type 6
A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.
hereditary motor and sensory neuropathy type 6
Charcot-Marie-Tooth disease type 7
A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.
mucolipidosis II alpha/beta
A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.
I-cell disease
inclusion-cell disease
mucolipidosis II
mucolipidosis
A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.
mucolipidosis III alpha/beta
A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
mucolipidosis III
pseudo-Hurler polydystrophy
intestinal pseudo-obstruction
A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
Chronic intestinal pseudo-obstruction
neuronal intestinal dysplasia
spina bifida occulta
A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed.
Neu-Laxova syndrome 2
A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.
Neu-Laxova syndrome 1
A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine.
hypophosphatemic nephrolithiasis/osteoporosis 1
A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.
hypophosphatemic nephrolithiasis/osteoporosis
A kidney disease that is characterized by formation of renal calcium stones or bone demineralization.
hypophosphatemic nephrolithiasis/osteoporosis 2
A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.
nonsyndromic congenital nail disorder 1
A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.
nonsyndromic congenital nail disorder 10
twenty-nail dystrophy
nonsyndromic congenital nail disorder
A nail disease that is characterized by underdevelopment of nails.
nonsyndromic congenital nail disorder 2
A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges.
nonsyndromic congenital nail disorder 3
A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.
nonsyndromic congenital nail disorder 4
A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.
HYPONYCHIA CONGENITA
anonychia congenita
nonsyndromic congenital nail disorder 5
A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment.
nonsyndromic congenital nail disorder 6
A nonsyndromic congenital nail disorder that is characterized by partial absences of nails.
nonsyndromic congenital nail disorder 7
A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins.
nonsyndromic congenital nail disorder 8
A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.
isolated toenail dystrophy
nonsyndromic congenital nail disorder 9
A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails.
merged into type 1. [LS]
obsolete nonsyndromic congenital nail disorder 10
tubular aggregate myopathy 1
A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.
reducing body myopathy 1A
A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.
Merged by OMIM. Same gene as 'term replaced by' with variable onset and phenotype.
obsolete spheroid body myopathy
A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31.
myofibrillar myopathy 3
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
LGMD 1A
LGMD1A
autosomal dominant limb-girdle muscular dystrophy type 1A
myotilinopathy
spheroid body myopathy
myofibrillar myopathy 1
A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
autosomal recessive limb-girdle muscular dystrophy type 2R
desminopathy
adult-onset myofibrillar myopathy 2A
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
alpha-b crystallinopathy
myofibrillar myopathy 2
myofibrillar myopathy 4
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.
zaspopathy
myofibrillar myopathy 5
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
filaminopathy
myofibrillar myopathy 6
A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
BAG3-related myofibrillar myopathy
myofibrillar myopathy 7
A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.
myopathy, lactic acidosis, and sideroblastic anemia
A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
obsolete Batten Turner congenital myopathy
A myopathy that is characterized by the lack of muscle tone or floppiness at birth.
myotonia congenita
A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Batten Turner congenital myopathy
Thomsen and Becker disease
Compton-North congenital myopathy
A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels.
congenital myopathy 12
congenital myopathy 4A
A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
CFTD
autosomal dominant congenital myopathy 4A
congenital fiber-type disproportion
cylindrical spirals myopathy
A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions.
microcephaly and chorioretinopathy 1
A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.
microcephaly and chorioretinopathy 2
A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene.
microcephaly and chorioretinopathy 3
A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.
myoglobinuria
A myopathy that is characterized by an increased urinary excretion of myoglobin.
contractures, pterygia, and spondylocarpotarsal fusion syndrome
A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
multiple pterygium syndrome
mitochondrial complex III deficiency nuclear type 1
A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.
mitochondrial complex III deficiency nuclear type 3
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.
mitochondrial complex III deficiency nuclear type 4
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.
mitochondrial complex III deficiency nuclear type 5
A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.
mitochondrial complex III deficiency nuclear type 6
A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.
mitochondrial complex III deficiency nuclear type 7
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21.
mitochondrial complex III deficiency nuclear type 8
A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23.
mitochondrial complex III deficiency nuclear type 9
A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12.
mitochondrial DNA depletion syndrome 1
A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13.
mitochondrial DNA depletion syndrome 1 (MNGIE type)
mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
mitochondrial DNA depletion syndrome 2
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.
TK2-related mitochondrial DNA depletion syndrome, myopathic form
mitochondrial DNA depletion syndrome 3
A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.
deoxyguanosine kinase deficiency
Alpers-Huttenlocher syndrome
A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.
Alper's syndrome
Alpers disease
Alpers progressive infantile poliodystrophy
Alpers syndrome
Alpers' disease or gray-matter degeneration
Diffuse Cerebral Sclerosis of Schilder
Polg disease
mitochondrial DNA depletion syndrome 4a
progressive sclerosing poliodystrophy
mitochondrial DNA depletion syndrome 4b
A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26.
mitochondrial neurogastrointestinal encephalopathy syndrome
mitochondrial DNA depletion syndrome 5
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14.
succinate-CoA ligase deficiency
mitochondrial DNA depletion syndrome 6
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Navajo neurohepatopathy
mitochondrial DNA depletion syndrome 7
A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.
OHAHA SYNDROME
infantile onset spinocerebellar ataxia
mitochondrial DNA depletion syndrome 8a
A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.
RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
mitochondrial DNA depletion syndrome 9
A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.
fatal infantile lactic acidosis
mitochondrial DNA depletion syndrome 11
A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.
progressive external ophthalmoplegia-myopathy-emaciation syndrome
mitochondrial DNA depletion syndrome 12a
A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
mitochondrial DNA depletion syndrome 13
A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.
FBXL4 deficiency
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
mitochondrial DNA depletion syndrome 13, encephalomyopathic type
Sengers syndrome
A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.
mitochondrial DNA depletion syndrome 10
mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
multiple mitochondrial dysfunctions syndrome 1
A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.
NFU1 deficiency
multiple mitochondrial dysfunctions syndrome 2
A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.
BOLA3 deficiency
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
multiple mitochondrial dysfunctions syndrome 3
A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.
IBA57 deficiency
multiple mitochondrial dysfunctions syndrome 4
A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24.
multiple endocrine neoplasia type 4
A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked.
Multiple Endocrine Neoplasia, Type IV
multiple congenital anomalies-hypotonia-seizures syndrome 1
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
multiple congenital anomalies-hypotonia-seizures syndrome
A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies.
multiple congenital anomalies-hypotonia-seizures syndrome 2
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.
developmental and epileptic encephalopathy 20
early infantile epileptic encephalopathy 20
glycosylphosphatidylinositol biosynthesis defect 4
multiple congenital anomalies-hypotonia-seizures syndrome 3
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.
M syndrome
light fixation seizure syndrome
mosaic variegated aneuploidy syndrome 1
A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.
mosaic variegated aneuploidy syndrome 2
A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.
congenital fibrosis of the extraocular muscles
An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.
ocular motility disease
disorder of eye movements
eye movement disorder
childhood acute lymphocytic leukemia
An acute lymphocytic leukemia occurring during childhood.
Childhood Acute Lymphoblastic Leukemia
acute lymphoblastic leukemia
A acute leukemia that is characterized by over production of lymphoblasts.
ALL
acute lymphoblastic leukaemia
acute lymphocytic leukaemia
precursor lymphoblastic lymphoma/leukemia
childhood T-cell acute lymphoblastic leukemia
A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells.
T-cell childhood acute lymphocytic leukemia
childhood precursor T-lymphoblastic lymphoma/leukemia
childhood B-cell acute lymphoblastic leukemia
A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells.
lymphoblastic lymphoma
A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites.
T-cell childhood lymphoblastic lymphoma
A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood.
Childhood T lymphoblastic lymphoma
adult acute monocytic leukemia
An acute monocytic leukemia occurring in adults.
acute monocytic leukemia
A monocytic leukemia where the majority of monocytic cells are promonocytes.
acute Monoblastic Leukemia and acute Monocytic Leukemia
acute monocytic leukaemia
acute monocytic leukaemia without mention of remission
acute monocytic leukemia without mention of remission
acute monocytic leukemia, FAB M5
acute monocytic leukemia, morphology
adrenocorticotropic hormone deficiency
A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.
medium chain acyl-CoA dehydrogenase deficiency
A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.
short chain acyl-CoA dehydrogenase deficiency
A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.
very long chain acyl-CoA dehydrogenase deficiency
A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.
VLCAD deficiency
X-linked adrenal hypoplasia congenita
An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.
congenital adrenal hypoplasia
adrenal cortical hypofunction
Adrenal Cortical Insufficiency
Corticoadrenal insufficiency
herpes simplex virus keratitis
A keratitis that has_material_basis_in herpes simplex type infection.
dendritic keratitis
keratitis
A corneal disease that is characterized by inflammation of the cornea.
Cryptococcal meningitis
A fungal meningitis that has_material_basis_in Crypococcus fungal infection.
fungal meningitis
A meningitis that has_material_basis_in a fungal infection.
Cytomegalovirus retinitis
A retinitis that has_material_basis_in Cytomegalovirus.
CMV retinitis
retinitis
cutaneous candidiasis
A candidiasis that is characterized by Candida infection located_in the skin.
candidiasis
An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
Disseminated candidiasis
systemic candidiasis
lupus nephritis
A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.
In 2024, patients with an autosomal dominant ORAS-like disease were identified. The terms OTULIN-related autoinflammatory syndrome (ORAS) and otulipenia have thus far referred only to this autosomal recessive form, but may become more generally used to mean both inherited forms [JAB, 2025-07-31].
autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15.
ORAS
OTULIN-related autoinflammatory syndrome
otulipenia
autoinflammation, panniculitis and dermatosis syndrome
Initially, this term was used only for the autosomal recessive disease but, in 2024, a new autosomal dominant form was identified and its use broadened to encompass both [JAB, 2025-07-31].
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.
Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms
myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.
Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement
myeloid and lymphoid neoplasms associated with PDGFRB rearrangement
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts.
Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.
tricuspid atresia
A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.
normophosphatemic familial tumoral calcinosis
A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.
calcinosis
A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
Pathologically calcified structure
pathologic calcification
esophageal atresia/tracheoesophageal fistula
A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing.
esophageal atresia and/or tracheoesophageal fistula
tracheoesophageal fistula with or without esohageal atresia
bladder exstrophy-epispadias-cloacal exstrophy complex
A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract.
exstrophy-epispadias complex
bladder exstrophy
A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening.
cloacal exstrophy
A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel.
meningococcal meningitis
A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.
bacterial meningitis
A meningitis that has_material_basis_in a bacterial infection.
hepatic veno-occlusive disease
A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.
veno-occlusive disease
hepatic vascular disease
A vascular disease that is located_in the liver.
vascular disorder of liver
mucositis
A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.
haemophilus meningitis
A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection.
Zika virus congenital syndrome
A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero.
ZIKV congenital infection
congenital Zika syndrome
PHARC syndrome
A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.
polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
mixed fibrolamellar hepatocellular carcinoma
A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.
fibrolamellar carcinoma
A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
Fibrolamellar hepatocellular carcinoma
Hepatocellular carcinoma, fibrolamellar
Oncocytic Hepatocellular tumor
medullary colon carcinoma
A colon carcinoma that is characterized by a solid growth pattern.
colon carcinoma
A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Colonic carcinoma
carcinoma of colon
mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma
A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin).
indeterminate bronchioloalveolar carcinoma
mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma
bronchiolo-alveolar adenocarcinoma
A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.
Bronchioalveolar lung carcinoma
Bronchioloalveolar carcinoma
Minimally Invasive Lung Adenocarcinoma
mucinous bronchioloalveolar adenocarcinoma
A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.
nonmucinous bronchioloalveolar adenocarcinoma
A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.
chronic neutrophilic leukemia
A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.
chronic leukemia
A leukemia that develops slowly.
CLL
adult chronic leukemia
chronic myelomonocytic leukemia
A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.
malignant hemangioma
A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen.
malignant epithelioid hemangioendothelioma
A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
obsolete PTEN hamartoma tumor syndrome
A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
relapsed/refractory diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.
superior semicircular canal dehiscence
An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.
canal dehiscence syndrome
superior canal dehiscence
superior canal syndrome
superior semicircular canal dehiscence syndrome
third mobile window syndrome
inner ear disease
An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.
labyrinthine disease
Marinesco-Sjogren syndrome
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Garland-Moorhouse syndrome
Marinesco-Garland syndrome
Oligophrenic cerebellolenticular degeneration
hereditary oligophrenic cerebello-lental degeneration
mandibulofacial dysostosis, Guion-Almeida type
A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
MFDM syndrome
mandibulofacial dysostosis with microcephaly
mandibulofacial dysostosis-microcephaly syndrome
congenital muscular dystrophy with cataracts and intellectual disability
A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
congenital muscular dystrophy with cataracts and impaired intellectual development
infantile histiocytoid cardiomyopathy
An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b.
colorectal cancer
A large intestine cancer that is located_in the colon and/or located_in the rectum.
bilateral renal aplasia
A renal agenesis that is characterized by the absence of both kidneys at birth.
renal agenesis
A renal disease that is characterized by the failure of one or both kidneys to develop.
hereditary renal aplasia
hereditary urogenital adysplasia
renal adysplasia
renal aplasia
Potter's syndrome
A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
Potter sequence
Potter syndrome
Peters plus syndrome
A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.
Krause-Kivlin syndrome
Peters anomaly-short limb dwarfism syndrome
Peters-plus syndrome
adenoid cystic carcinoma
An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.
renal hypoplasia
A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.
congenital anomalies of the kidney and urinary tract 1
A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32.
CAKUT1
congenital anomalies of kidney and urinary tract 1
congenital anomalies of the kidney and urinary tract 2
A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.
CAKUT2
Multicystic Dysplastic Kidney
congenital anomalies of kidney and urinary tract 2
metabolic dysfunction-associated steatotic liver disease
A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.
MAFLD
MASLD
NAFLD
metabolic dysfunction-associated fatty liver disease
metabolic dysfunction-related steatotic liver disease
metabolic-associated fatty liver disease
non-alcoholic fatty liver disease
nonalcoholic fatty liver disease
NAFL
non-alcoholic fatty liver
nonalcoholic fatty liver
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.
SIFD
primary mediastinal B-cell lymphoma
A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis.
Large cell lymphoma of the mediastinum
Mediastinal diffuse large-cell lymphoma with sclerosis
Primary mediastinal clear cell lymphoma of B-cell type
nodal marginal zone lymphoma
A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease.
polycystic kidney disease 4
A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene.
pkd3
polycystic kidney and hepatic disease 1
polycystic kidney disease 4 with or without hepatic disease
polycystic kidney disease, autosomal recessive
polycystic kidney disease, infantile, type i
autosomal recessive polycystic kidney disease
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
AR-PKD
punctate palmoplantar keratoderma type II
A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits.
punctate palmoplantar keratoderma type I
A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.
punctate palmoplantar keratoderma type 1A
punctate palmoplantar keratoderma type 1B
developmental and epileptic encephalopathy 8
A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.
DEE8
EIEE8
early infantile epileptic encephalopathy 8
duodenal atresia
An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum.
intestinal atresia
lysosomal acid lipase deficiency
A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.
LAL deficiency
LAL-D
primary spontaneous pneumothorax
A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.
pneumothorax
A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall.
dystransthyretinemic hyperthyroxinemia
A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.
hyperthyroxinemia
A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
obsolete major affective disorder 1
obsolete major affective disorder 2
MeSH obsoleted this term and ID, merged with parent term.[LS]
pseudohypoparathyroidism type 1B
A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.
PHP Ib
autosomal dominant dystrophic epidermolysis bullosa
An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
amyotrophic lateral sclerosis type 23
An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.
autosomal dominant intellectual developmental disorder 56
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.
autosomal dominant intellectual developmental disorder-56
autosomal dominant mental retardation 56
autosomal dominant intellectual developmental disorder 55
An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.
autosomal dominant intellectual developmental disorder-55 with seizures
autosomal dominant mental retardation 55
autosomal dominant intellectual developmental disorder 53
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.
autosomal dominant mental retardation 53
obsolete autosomal dominant mental retardation 61
autosomal dominant intellectual developmental disorder 54
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13.
autosomal dominant mental retardation 54
autosomal dominant intellectual developmental disorder 52
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22.
autosomal dominant mental retardation 52
autosomal dominant intellectual developmental disorder 51
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13.
autosomal dominant mental retardation 51
autosomal dominant intellectual developmental disorder 50
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31.
autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
autosomal dominant mental retardation 50
Clark-Baraitser syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.
Baraitser syndrome
CLABARS
autosomal dominant intellectual disability 49
autosomal dominant mental retardation 49
autosomal dominant intellectual developmental disorder 48
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.
autosomal dominant mental retardation 48
autosomal dominant intellectual developmental disorder 45
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13.
autosomal dominant mental retardation 45
autosomal dominant intellectual developmental disorder 46
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.
autosomal dominant mental retardation 46
autosomal dominant intellectual developmental disorder 47
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22.
autosomal dominant mental retardation 47
autosomal recessive intellectual developmental disorder 61
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13.
Alwadei syndrome
autosomal recessive intellectual developmental disorder-61
autosomal recessive mental retardation 61
non-syndromic X-linked intellectual disability 106
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
MRX106
X-linked mental retardation 106
syndromic X-linked mental retardation 35
A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28.
syndromic X-linked mental retardation Hough type
A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.
amelogenesis imperfecta type 3B
An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene.
amelogenesis imperfecta type 3
An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption.
AI3
hypocalcified amelogenesis imperfecta
Galloway-Mowat syndrome 2
A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28.
Galloway-Mowat syndrome 3
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11.
Galloway-Mowat syndrome 4
A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13.
Galloway-Mowat syndrome 5
A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13.
erythrokeratodermia variabilis et progressiva 2
An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.
erythrokeratodermia variabilis et progressiva 3
An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.
erythrokeratodermia variabilis et progressiva 4
An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21.
erythrokeratodermia variabilis et progressiva 5
An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13.
spastic ataxia 8
A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21.
Meckel syndrome 13
A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
orofaciodigital syndrome XVI
An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Meier-Gorlin syndrome 8
A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12.
Perrault syndrome 6
A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11.
autosomal recessive congenital ichthyosis 13
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13.
autosomal recessive congenital ichthyosis 14
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.
autosomal recessive spinocerebellar ataxia 25
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21.
SCAR25
autosomal recessive spinocerebellar ataxia 26
An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.
SCAR26
autosomal recessive nonsyndromic deafness 106
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15.
autosomal recessive nonsyndromic deafness 107
An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25.
autosomal recessive nonsyndromic deafness 108
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31.
exudative vitreoretinopathy 7
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1.
EVR7
RENI syndrome
A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
nephrotic syndrome type 14
primary ciliary dyskinesia 37
A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21.
autosomal dominant nonsyndromic deafness 71
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21.
autosomal dominant nonsyndromic deafness 72
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21.
autosomal dominant nonsyndromic deafness 73
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21.
autosomal dominant nonsyndromic deafness 34
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
nephrotic syndrome type 15
A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.
nephrotic syndrome type 16
A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13.
polycystic kidney disease 5
A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22.
multiple mitochondrial dysfunctions syndrome 5
A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21.
Joubert syndrome 30
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37.
OMIM notes Meckel syndrome 13 and Joubert syndrome 29 are both caused by mutation in the TMEM107 gene [LS]
Joubert syndrome 29
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Joubert syndrome 31
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.
Joubert syndrome 32
A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24.
Joubert syndrome 33
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.
gingival fibromatosis 5
A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12.
schizophrenia 19
A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11.
developmental and epileptic encephalopathy 56
A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.
DEE56
early infantile epileptic encephalopathy 56
developmental and epileptic encephalopathy 55
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
DEE55
GPIBD14
early infantile epileptic encephalopathy 55
glycosylphosphatidylinositol biosynthesis defect 14
developmental and epileptic encephalopathy 57
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.
DEE57
early infantile epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.
DEE58
early infantile epileptic encephalopathy 58
spinocerebellar ataxia 44
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24.
spinocerebellar ataxia 45
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33.
spinocerebellar ataxia 46
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13.
orofaciodigital syndrome XVII
An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
familial erythrocytosis 5
A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.
ECYT5
developmental and epileptic encephalopathy 59
A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
DEE59
early infantile epileptic encephalopathy 59
retinitis pigmentosa 81
A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
short-rib thoracic dysplasia 18 with polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
Charcot-Marie-Tooth disease dominant intermediate G
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21.
short-rib thoracic dysplasia 19 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.
hypomyelinating leukodystrophy 14
A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13.
Coffin-Siris syndrome 6
A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.
lipodystrophy
A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
acquired generalized lipodystrophy
A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth.
Lawrence syndrome
atypical hemolytic-uremic syndrome
A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
mixed sleep apnea
A sleep apnea that is characterized by a combination of central and obstructive sleep apnea.
complex sleep apnea
mucinous lung adenocarcinoma
A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces.
mucinous adenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
Mucin-Secreting adenocarcinoma
Mucin-Secreting carcinoma
Mucous carcinoma
Pseudomyxoma peritonei with unknown primary site
mucin-producing adenocarcinoma
lung adenocarcinoma
A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.
bronchogenic lung adenocarcinoma
nonsmall cell adenocarcinoma
adenocarcinoma of lung
lung mucinous cystadenocarcinoma
A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue.
signet ring lung adenocarcinoma
A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus.
solid adenocarcinoma with mucin production
A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells.
myofibrillar myopathy 8
A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.
infantile-onset myofibrillar myopathy-2B
A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
MFM2B
fatal infantile hypertonic myofibrillar myopathy
Billuart-type X-linked syndromic intellectual developmental disorder
A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12.
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
neurodevelopmental disorder with midbrain and hindbrain malformations
A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22.
NEDMHM
cleft palate-lateral synechia syndrome
A physical disorder that is characterized by fusion of maxilla and mandible.
CPLS syndrome
syngnathia
cone-rod dystrophy 14
A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1.
megalencephalic leukoencephalopathy with subcortical cysts
A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.
megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome
vacuolating megalencephalic leukoencephalopathy with subcortical cysts
megalencephalic leukoencephalopathy with subcortical cysts 1
A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13.
Van Der Knaap disease
leukoencephalopathy with swelling and cysts
megalencephalic leukoencephalopathy with subcortical cysts 2B
A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24.
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
megalencephalic leukoencephalopathy with subcortical cysts 2A
A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1).
XMEN
peripheral nervous system benign neoplasm
A central nervous system benign neoplasm the is located_in the peripheral nervous system.
autonomic nervous system benign neoplasm
A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system.
polycystic kidney disease
A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.
cystic kidney disease
A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.
renal Cyst
renal cystic disease
pancreatic squamous cell carcinoma
A squamous cell carcinoma located in the pancreas.
pancreatic cancer
An endocrine gland cancer located_in the pancreas.
Ca body of pancreas
Ca head of pancreas
Ca tail of pancreas
malignant neoplasm of body of pancreas
malignant neoplasm of head of pancreas
malignant neoplasm of tail of pancreas
pancreas neoplasm
pancreatic neoplasm
pancreatic tumor
tuberous sclerosis 1
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.
tuberous sclerosis
A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Bourneville's disease
Epiloia
Tuberose sclerosis
Tuberous sclerosis complex
Tuberous sclerosis syndrome
cerebral sclerosis
tuberous sclerosis 2
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13.
hypertrophic cardiomyopathy
An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
hypertrophic obstructive cardiomyopathy
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.
MARCH
Culler-Jones syndrome
A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.
cold-induced sweating syndrome 1
A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention.
cold-induced sweating syndrome 2
A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13.
cold-induced sweating syndrome 3
A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15.
bicuspid aortic valve disease
An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.
Familial bicuspid aortic valve
aortic valve disease
A heart valve disease that is located_in the aortic valve.
aortic valve disease 1
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.
aortic valve disease 2
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
mitochondrial DNA depletion syndrome 12b
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
mitochondrial DNA depletion syndrome 14
A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.
mitochondrial DNA depletion syndrome 15
A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21.
familial erythrocytosis 3
A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42.
ECYT3
familial erythrocytosis 4
A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.
ECYT4
obsolete X-linked dominant disease
obsolete X-linked recessive disease
Simpson-Golabi-Behmel syndrome type 2
A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.
blepharocheilodontic syndrome
A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.
Blepharo-cheilo-odontic syndrome
blepharocheilodontic syndrome 1
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22.
blepharocheilodontic syndrome 2
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.
adrenal medulla cancer
An adrenal gland cancer that is located_in the adrenal medulla.
adrenal medulla neoplasm
adrenal medulla tumor
malignant neoplasm of adrenal medulla
malignant tumor of the Adrenal Medulla
Alzheimer's disease 1
An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.
Alzheimer's disease 1, early onset
Alzheimer's disease
A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
Alzheimer disease
Alzheimers dementia
developmental and epileptic encephalopathy 39
A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
AGC1 deficiency
early infantile epileptic encephalopathy 39
epileptic encephalopathy with global cerebral demyelination
retinitis pigmentosa 77
A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13.
CLOVES syndrome
A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26.
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
X-linked chondrodysplasia punctata 2
A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
Conradi-Hunermann Syndrome
Happle syndrome
X-linked recessive hypophosphatemic rickets
A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.
Phelan-McDermid syndrome
A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
22q13.3 deletion syndrome
monosomy 22q13 syndrome
hepatobiliary system cancer
A gastrointestinal system cancer that is located_in the hepatobiliary system.
IgG4-related disease
An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs.
mitochondrial complex IV deficiency nuclear type 2
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.
MC4DN2
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1
mitochondrial complex IV deficiency nuclear type 6
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.
MC4DN6
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
mitochondrial complex IV deficiency nuclear type 9
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.
MC4DN9
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
mitochondrial complex IV deficiency nuclear type 13
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
MC4DN13
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
trimethylaminuria
An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.
fish-odor syndrome
X-linked spondyloepiphyseal dysplasia tarda
A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
spondyloepiphyseal dysplasia tarda
A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth.
mitochondrial pyruvate carrier deficiency
A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.
malignant adenoma
A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.
endometrial hyperplasia
An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.
desmoid tumor
A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs.
chronic eosinophilic leukemia
A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.
sex cord-stromal benign neoplasm
A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.
ovarian sex-cord stromal tumor
A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
sex cord-gonadal stromal tumor
A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
Sex Cord-Stromal neoplasm
Sex cord stromal tumour
Specialized gonadal neoplasm
Specialized gonadal tumor
Specialized gonadal tumour
sex cord-gonadal stromal tumour
ovarian sex cord-stromal benign neoplasm
A sex cord-stromal benign neoplasm that arises from the ovary.
testicular sex cord-stromal benign neoplasm
A sex cord-stromal benign neoplasm that arises from the testis.
epithelioid inflammatory myofibroblastic sarcoma
An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells.
epididymis disease
A male reproductive system disease that is located_in the epididymis.
gastroesophageal cancer
A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach.
gastroesophageal adenocarcinoma
A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
gastric and esophageal adenocarcinoma
gastro-esophageal adenocarcinoma
trichorhinophalangeal syndrome type III
A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.
trichorhinophalangeal syndrome type 3
peroxisomal biogenesis disorder
A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.
obsolete Zellweger spectrum disorder
nephrotic syndrome type 2
A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.
steroid-resistant autosomal recessive nephrotic syndrome
nephrotic syndrome type 5
A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
nephrotic syndrome type 5, with or without ocular abnormalities
nephrotic syndrome type 13
A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33.
nephrotic syndrome type 3
A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23.
early onset nephrotic syndrome type 3
nephrotic syndrome type 4
A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13.
nephrotic syndrome type 6
A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12.
nephrotic syndrome type 11
A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
nephrotic syndrome type 10
A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13.
nephrotic syndrome type 12
A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.
nephrotic syndrome type 7
A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.
Ig-mediated MPGN
Ig-mediated membranoproliferative glomerulonephritis
Immunoglobulin-mediated MPGN
immunoglobulin-mediated membranoproliferative glomerulonephritis
nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
nephrotic syndrome type 8
A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25.
nephrotic syndrome type 1
A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
Finnish congenital nephrosis
nephrotic syndrome type 9
A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13.
nephrotic syndrome type 17
A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.
nephrotic syndrome type 18
A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42.
nephrotic syndrome type 19
A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11.
orofacial cleft 1
An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3.
nonsyndromic cleft lip with or without cleft palate 1
orofacial cleft 2
An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13.
nonsyndromic cleft lip with or without cleft palate 2
orofacial cleft 3
An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13.
nonsyndromic cleft lip with or without cleft palate 3
orofacial cleft 4
An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region.
nonsyndromic cleft lip with or without cleft palate 4
orofacial cleft 5
An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16.
nonsyndromic cleft lip with or without cleft palate 5
orofacial cleft 7
An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23.
Zlotogora-Ogur syndrome
orofacial cleft 8
An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
orofacial cleft 9
An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34.
nonsyndromic cleft lip with or without cleft palate 9
orofacial cleft 10
An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33.
nonsyndromic cleft lip with or without cleft palate 10
orofacial cleft 11
An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.
nonsyndromic cleft lip with or without cleft palate 11
orofacial cleft 12
An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3.
nonsyndromic cleft lip with or without cleft palate 12
orofacial cleft 13
An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730.
orofacial cleft 14
An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.
orofacial cleft 15
An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21.
familial adenomatous polyposis 1
A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.
adenocarcinoma in adenomatous polyposis coli
familial adenomatous polyposis 2
A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.
MUTYH-associated polyposis
MUTYH-related attenuated FAP
MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related attenuated familial polyposis coli
familial adenomatous polyposis 3
A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.
familial adenomatous polyposis 4
A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11.
developmental and epileptic encephalopathy 18
A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
DEE18
early infantile epileptic encephalopathy 18
developmental and epileptic encephalopathy 15
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.
DEE15
early infantile epileptic encephalopathy 15
developmental and epileptic encephalopathy 23
A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
DEE23
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
early infantile epileptic encephalopathy 23
developmental and epileptic encephalopathy 32
A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.
DEE32
early infantile epileptic encephalopathy 32
developmental and epileptic encephalopathy 38
A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.
DEE38
early infantile epileptic encephalopathy 38
developmental and epileptic encephalopathy 54
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
DEE54
early infantile epileptic encephalopathy 54
developmental and epileptic encephalopathy 50
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.
CDG syndrome type Iz
CDG-Iz
Carbohydrate deficient glycoprotein syndrome type Iz
Congenital disorder of glycosylation type 1z
DEE50
early infantile epileptic encephalopathy 50
developmental and epileptic encephalopathy 62
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
DEE62
early infantile epileptic encephalopathy 62
developmental and epileptic encephalopathy 11
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
DEE11
early infantile epileptic encephalopathy 11
Dravet syndrome
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
DEE6
DEE6A
developmental and epileptic encephalopathy 6
developmental and epileptic encephalopathy 6A
early infantile epileptic encephalopathy 6
severe myoclonic epilepsy of infancy
obsolete early infantile epileptic encephalopathy 39
developmental and epileptic encephalopathy 44
A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.
DEE44
early infantile epileptic encephalopathy 44
developmental and epileptic encephalopathy 47
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.
DEE47
early infantile epileptic encephalopathy 47
developmental and epileptic encephalopathy 63
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16.
DEE63
early infantile epileptic encephalopathy 63
developmental and epileptic encephalopathy 40
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.
DEE40
early infantile epileptic encephalopathy 40
developmental and epileptic encephalopathy 45
A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
DEE45
early infantile epileptic encephalopathy 45
developmental and epileptic encephalopathy 24
A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.
DEE24
early infantile epileptic encephalopathy 24
developmental and epileptic encephalopathy 65
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
DEE65
early infantile epileptic encephalopathy 65
developmental and epileptic encephalopathy 19
A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.
DEE19
early infantile epileptic encephalopathy 19
developmental and epileptic encephalopathy 60
A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.
DEE60
early infantile epileptic encephalopathy 60
developmental and epileptic encephalopathy 51
A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.
DEE51
early infantile epileptic encephalopathy 51
developmental and epileptic encephalopathy 61
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.
DEE61
early infantile epileptic encephalopathy 61
developmental and epileptic encephalopathy 37
A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.
DEE37
early infantile epileptic encephalopathy 37
developmental and epileptic encephalopathy 4
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
DEE4
early infantile epileptic encephalopathy 4
developmental and epileptic encephalopathy 31A
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
DEE31
DEE31A
developmental and epileptic encephalopathy 31
early infantile epileptic encephalopathy 31
developmental and epileptic encephalopathy 5
A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
DEE5
early infantile epileptic encephalopathy 5
developmental and epileptic encephalopathy 14
A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
DEE14
early infantile epileptic encephalopathy 14
developmental and epileptic encephalopathy 3
A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.
early infantile epileptic encephalopathy 3
developmental and epileptic encephalopathy 49
A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.
DEE49
early infantile epileptic encephalopathy 49
developmental and epileptic encephalopathy 41
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.
DEE41
early infantile epileptic encephalopathy 41
developmental and epileptic encephalopathy 21
A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.
DEE21
early infantile epileptic encephalopathy 21
developmental and epileptic encephalopathy 27
A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.
DEE27
early infantile epileptic encephalopathy 27
developmental and epileptic encephalopathy 13
A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.
DEE13
early infantile epileptic encephalopathy 13
developmental and epileptic encephalopathy 66
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.
DEE66
early infantile epileptic encephalopathy 66
developmental and epileptic encephalopathy 43
A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.
DEE43
early infantile epileptic encephalopathy 43
developmental and epileptic encephalopathy 48
A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.
DEE48
early infantile epileptic encephalopathy 48
developmental and epileptic encephalopathy 16
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
DEE16
early infantile epileptic encephalopathy 16
developmental and epileptic encephalopathy 17
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.
DEE17
early infantile epileptic encephalopathy 17
developmental and epileptic encephalopathy 29
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
DEE29
early infantile epileptic encephalopathy 29
developmental and epileptic encephalopathy 28
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.
DEE28
early infantile epileptic encephalopathy 28
developmental and epileptic encephalopathy 25
A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.
DEE25
SLC13A5 citrate transporter disorder
developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
early infantile epileptic encephalopathy 25
developmental and epileptic encephalopathy 42
A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.
DEE42
early infantile epileptic encephalopathy 42
developmental and epileptic encephalopathy 52
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
DEE52
early infantile epileptic encephalopathy 52
developmental and epileptic encephalopathy 46
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
DEE46
early infantile epileptic encephalopathy 46
microcephaly, seizures, and developmental delay
A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
developmental and epileptic encephalopathy 10
early infantile epileptic encephalopathy 10
developmental and epileptic encephalopathy 35
A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
DEE35
ITPA-related encephalopathy
early infantile epileptic encephalopathy 35
developmental and epileptic encephalopathy 12
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
DEE12
early infantile epileptic encephalopathy 12
developmental and epileptic encephalopathy 34
A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
DEE34
early infantile epileptic encephalopathy 34
developmental and epileptic encephalopathy 26
A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.
DEE26
early infantile epileptic encephalopathy 26
developmental and epileptic encephalopathy 7
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
KCNQ2-related epileptic encephalopathy
KCNQ2-related neonatal epileptic encephalopathy
early infantile epileptic encephalopathy 7
developmental and epileptic encephalopathy 33
A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.
DEE33
early infantile epileptic encephalopathy 33
developmental and epileptic encephalopathy 53
A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.
DEE53
early infantile epileptic encephalopathy 53
developmental and epileptic encephalopathy 30
A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.
DEE30
early infantile epileptic encephalopathy 30
obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2
developmental and epileptic encephalopathy 2
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.
DEE2
EIEE2
X-linked infantile spasm syndrome 2
early infantile epileptic encephalopathy 2
developmental and epileptic encephalopathy 1
A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
DEE1
X-linked infantile spasm syndrome 1
early infantile epileptic encephalopathy 1
obsolete congenital disorder of glycosylation type 2m
developmental and epileptic encephalopathy 36
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
congenital disorder of glycosylation, type Is
early infantile epileptic encephalopathy 36
developmental and epileptic encephalopathy 92
A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
developmental and epileptic encephalopathy 91
A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.
infantile or early childhood epileptic encephalopathy 1
developmental delay and seizures with or without movement abnormalities
A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.
pustular psoriasis 14
A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14.
acrodermatitis continua of Hallopeau
deficiency of IL-36R antagonist
Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860.
psoriasis
A skin disease that is characterized by patches of thick red skin and silvery scales.
psoriasis 2
A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25.
peroxisome biogenesis disorder 1A
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
peroxisome biogenesis disorder 1A (Zellweger)
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
Zellweger syndrome
A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
cerebrohepatorenal syndrome
congenital iron overload
peroxisome biogenesis disorder 2A
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.
peroxisome biogenesis disorder 2A (Zellweger)
peroxisome biogenesis disorder 3A
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.
peroxisome biogenesis disorder 3A (Zellweger)
peroxisome biogenesis disorder 4A
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1.
peroxisome biogenesis disorder 4A (Zellweger)
peroxisome biogenesis disorder 5A
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.
peroxisome biogenesis disorder 5A (Zellweger)
peroxisome biogenesis disorder 6A
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.
peroxisome biogenesis disorder 6A (Zellweger)
peroxisome biogenesis disorder 7A
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.
peroxisome biogenesis disorder 7A (Zellweger)
peroxisome biogenesis disorder 8A
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.
peroxisome biogenesis disorder 8A (Zellweger)
peroxisome biogenesis disorder 10A
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24.
peroxisome biogenesis disorder 10A (Zellweger)
peroxisome biogenesis disorder 11A
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
peroxisome biogenesis disorder 11A (Zellweger)
peroxisome biogenesis disorder 12A
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23.
peroxisome biogenesis disorder 12A (Zellweger)
peroxisome biogenesis disorder 13A
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36.
peroxisome biogenesis disorder 13A (Zellweger)
GM1 gangliosidosis type 3
A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.
adult-onset GM1 gangliosidosis
GM1 gangliosidosis
A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
Beta-galactosidase deficiency
deficiency of beta-galactosidase
gangliosidosis GM1
mucolipidosis type IV
A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.
cerebral cavernous malformation 1
A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.
leukocyte adhesion deficiency 2
A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.
leukocyte adhesion deficiency
A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.
Congenital leukocyte adherence deficiency
ovarian dysgenesis 1
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.
ovarian dysgenesis 2
A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11.
ovarian dysgenesis 3
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.
ovarian dysgenesis 4
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22.
ovarian dysgenesis 5
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34.
ovarian dysgenesis 6
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15.
ovarian dysgenesis 7
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23.
ovarian dysgenesis 8
A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23.
GM1 gangliosidosis type 2
A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.
juvenile GM1 gangliosidosis
GM1 gangliosidosis type 1
A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.
Parkinson's disease 22
A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.
autosomal dominant Parkinson's disease 22
Cornelia de Lange syndrome 1
A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
Cornelia de Lange syndrome 2
A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
Cornelia de Lange syndrome 3
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
CDLS3
Cornelia De Lange syndrome 3 with or without midline brain defects
Cornelia de Lange syndrome 4
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.
CDLS4
Cornelia De Lange syndrome 4 with or without midline brain defects
Cornelia de Lange syndrome 5
A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.
epidermolysis bullosa simplex 1C
An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on chromosome 17q21.
epidermolysis bullosa simplex Weber-Cockayne type
epidermolysis bullosa simplex localized type
generalized intermediate epidermolysis bullosa simplex 1B
An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy and has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.
epidermolysis bullosa simplex Koebner type
epidermolysis bullosa simplex generalized type
Meier-Gorlin syndrome 1
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.
Meier-Gorlin syndrome 2
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23.
Meier-Gorlin syndrome 3
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11.
Meier-Gorlin syndrome 4
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24.
Meier-Gorlin syndrome 5
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21.
Meier-Gorlin syndrome 6
A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22.
Meier-Gorlin syndrome 7
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11.
PAPA syndrome
A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.
pyogenic arthritis, pyoderma gangrenosum and acne
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
Tn polyagglutination syndrome
A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.
galactosyltransferase deficiency
hematopoietic system disease
A disease of anatomical entity that has_material_basis_in hematopoietic cells.
Blood disease
Blood dyscrasia
DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
Hematological disease
blood disorder
disease of haematopoietic system
disease of hematopoietic system
haematopoietic system disease
lung non-squamous non-small cell carcinoma
A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation.
non- squamous NSCLC
lung non-small cell carcinoma
A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
NSCLC
Non-small cell lung cancer
non-small cell lung carcinoma
anaplastic thyroid carcinoma
A thyroid gland carcinoma that is composed of undifferentiated cells.
thyroid gland anaplastic carcinoma
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.
hereditary diffuse leukoencephalopathy with spheroids
thyroid gland adenocarcinoma
A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
differentiated high-grade thyroid carcinoma
A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
differentiated thyroid gland carcinoma
bronchiectasis 1
A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12.
bronchiectasis
A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
Polynesian bronchiectasis
bronchiectasis 2
A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel.
bronchiectasis 3
A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel.
granular corneal dystrophy 1
A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.
corneal dystrophy, Groenouw type I
dedifferentiated liposarcoma
A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells.
liposarcoma
A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
lipomatous cancer
Smarca4-deficient sarcoma of thorax
A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex).
SMARCA4-DTS
thoracic cancer
An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall.
Thoracic tumor
thorax cancer
thorax neoplasm
tumor of thorax
Carney-Stratakis syndrome
A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
myxofibrosarcoma
A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
fibromyxoid sarcoma
hypermanganesemia with dystonia
A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese.
hypermanganesemia with dystonia 1
A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41.
hypermanganesemia with dystonia 2
A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.
Sweeney-Cox syndrome
A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
PEHO syndrome
A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.
galactosialidosis
A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
hyperprolinemia
An amno acid metabolic disorder that is characterized by the excess of proline in the blood.
hyperprolinemia type 1
A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.
hyperprolinemia type I
hyperprolinemia type 2
A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.
hyperprolinemia type II
hyperimmunoglobulin syndrome
A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
hyper IgE syndrome
A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.
hyper immunoglobulin E syndrome
NAFL was not addressed in the 2023 international update that revised the nomenclature and definition of NAFLD/MASLD and NASH/MASH. It has historically been considered a subtype of NAFLD/MASLD, but has frequently been used in clinical literature as a synonym for NAFLD itself. Use of NAFL in clinical literature has declined in connection with the decline of NAFLD. It no longer appears to represent a distinct disease entity (2024-11-22, JAB).
obsolete non-alcoholic fatty liver
A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning.
metabolic dysfunction-associated steatohepatitis
A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.
MASH
NASH
non-alcoholic steatohepatitis
nonalcoholic steatohepatitis
Noonan syndrome with multiple lentigines 1
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.
LEOPARD syndrome 1
Noonan syndrome with multiple lentigines
A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
Generalized lentiginosis
Gorlin syndrome II
LEOPARD syndrome
Lentiginosis profusa syndrome
Moynahan syndrome
Multiple lentigines syndrome
Progressive cardiomyopathic lentiginosis
Noonan syndrome with multiple lentigines 2
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.
LEOPARD syndrome 2
Noonan syndrome with multiple lentigines 3
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
LEOPARD syndrome 3
Naxos disease
A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
congenital disorder of glycosylation Ia
A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.
PMM2-congenital disorder of glycosylation
congenital disorder of glycosylation 1a
congenital disorder of glycosylation Iaa
A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.
congenital disorder of glycosylation 1aa
congenital disorder of glycosylation Ib
A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.
congenital disorder of glycosylation 1b
congenital disorder of glycosylation Ic
A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.
congenital disorder of glycosylation 1c
congenital disorder of glycosylation Id
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
congenital disorder of glycosylation 1d
congenital disorder of glycosylation Ie
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
congenital disorder of glycosylation 1e
congenital disorder of glycosylation If
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
congenital disorder of glycosylation 1f
congenital disorder of glycosylation Ig
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
ALG12-congenital disorder of glycosylation
congenital disorder of glycosylation 1g
congenital disorder of glycosylation Ih
A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14.
congenital disorder of glycosylation 1h
congenital disorder of glycosylation Ii
A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
congenital disorder of glycosylation 1i
congenital disorder of glycosylation Ij
A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
Congenital disorder of glycosylation 1j
congenital disorder of glycosylation Ik
A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
congenital disorder of glycosylation 1k
congenital disorder of glycosylation Il
A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.
congenital disorder of glycosylation 1l
congenital disorder of glycosylation Im
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
DOLK-congenital disorder of glycosylation
congenital disorder of glycosylation 1m
dolichol kinase deficiency
congenital disorder of glycosylation In
A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21.
congenital disorder of glycosylation 1n
congenital disorder of glycosylation Ip
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
congenital disorder of glycosylation 1p
congenital disorder of glycosylation Iq
A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.
congenital disorder of glycosylation 1q
congenital disorder of glycosylation Ir
A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
congenital disorder of glycosylation 1r
congenital disorder of glycosylation It
A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.
congenital disorder of glycosylation 1t
congenital disorder of glycosylation Iu
A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
congenital disorder of glycosylation 1u
congenital disorder of glycosylation Iw
A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
congenital disorder of glycosylation 1w
congenital disorder of glycosylation Ix
A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.
congenital disorder of glycosylation 1x
congenital disorder of glycosylation Iy
A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28.
congenital disorder of glycosylation 1y
Larsen-like syndrome B3GAT3 type
A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
Larsen-like syndrome, B3GAT3 type
multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
spondyloepimetaphyseal dysplasia, Genevieve-type
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
polygenic disease
A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci.
3-methylcrotonyl-CoA carboxylase 1 deficiency
A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.
3-methylcrotonyl-CoA carboxylase 2 deficiency
A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.
hyperekplexia 4
A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.
hypotrichosis 14
A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
Wolfram syndrome, mitochondrial form
A Wolfram syndrome that has_material_basis_in mutation in mtDNA.
DIDMOAD, mitochondrial form
diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form
Wolfram syndrome
A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
WFS
autosomal dominant Wolfram syndrome
A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.
Van Maldergem syndrome 1
A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.
Van Maldergem syndrome 2
A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.
congenital myasthenic syndrome 22
A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.
congenital myasthenic syndrome
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
agammaglobulinemia 5
An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34.
Klippel-Feil syndrome 1
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
Klippel-Feil syndrome
A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
Klippel-Feil and Turner syndrome
Klippel-Feil deformity, deafness and facial asymmetry
autosomal dominant Klippel-Feil syndrome
congenital dystrophia brevicollis
congenital synostosis of cervical vertebrae
Klippel-Feil syndrome 2
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21.
Klippel-Feil syndrome 3
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13.
Klippel-Feil syndrome 4
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
orofacial cleft 6
An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32.
hyper IgE recurrent infection syndrome 2
A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.
autosomal recessive hyper-IgE syndrome 2 with recurrent infections
autosomal recessive hyper-IgE syndrome 3 with recurrent infections
A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11.
hyper IgE recurrent infection syndrome 3
hyper IgE recurrent infection syndrome 4
A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11.
Kleefstra syndrome 2
A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.
Coronavirus infectious disease
A viral infectious disease that has_material_basis_in Coronavirus.
COVID-19
A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.
2019 Novel Coronavirus (2019-nCoV)
2019-nCoV infection
COVID19
SARS-CoV-2 infection
germ cell benign neoplasm
A benign neoplasm that derives_from germ cells.
benign teratoma
A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
ankylosing spondylitis 1
A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3.
ankylosing spondylitis 2
A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34.
ankylosing spondylitis 3
A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3.
anterior segment dysgenesis 1
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.
anterior segment dysgenesis 2
An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33.
anterior segment dysgenesis 3
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
anterior segment dysgenesis 4
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
anterior segment dysgenesis 5
An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
anterior segment dysgenesis 6
An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.
anterior segment dysgenesis 7
An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25.
anterior segment dysgenesis 8
An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13.
oculocutaneous albinism type VI
An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1.
nephroma
A kidney benign neoplasm that is located_in the kidney cortex.
benign nephroma
kidney cortex disease
A kidney disease that is located_in the kidney cortex.
kidney benign neoplasm
renal and ureteral tumor
lymph node benign neoplasm
An immune system organ benign neoplasm that is located_in the lymph nodes.
lymph node cancer
A lymphatic system cancer that is located_in the lymph node.
lymph node neoplasm
auditory system benign neoplasm
A sensory system benign neoplasm that is located in the auditory system.
glucocorticoid deficiency 1
A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.
peroxisome biogenesis disorder 2B
A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.
Heimler syndrome 1
A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.
Deafness-enamel hypoplasia-nail defects syndrome
peroxisomal biogenesis disorder 1C
Heimler syndrome 2
A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
peroxisomal biogenesis disorder 4C
severe congenital neutropenia 1
A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.
corticosterone methyloxidase deficiency 1
An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.
aldosterone synthase deficiency
alopecia-mental retardation syndrome
A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability.
alopecia-mental retardation syndrome 1
An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27.
alopecia-mental retardation syndrome 2
An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31.
B-cell acute lymphoblastic leukemia
An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
B acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia
Elsahy-Waters syndrome
A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation.
branchioskeletogenital syndrome
Fazio-Londe disease
A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13.
riboflavin transporter deficiency neuronopathy
progressive bulbar palsy
developmental cardiac valvular defect
A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.
nanophthalmos
A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
microphthalmia
An eye disease where one or both eyeballs are abnormally small.
microphthalmos
simple microphthalmos
optic disc anomalies with retinal and/or macular dystrophy
A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.
bone sarcoma
A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
bone cancer
A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
CA - bone cancer
bone neoplasm
bone tumour
malignant bone neoplasm
malignant bone tumour
malignant neoplasm of bone
malignant osseous tumor
neoplasm of bone
osseous tumor
tongue carcinoma
A tongue cancer that derives_from epithelial cells that cover the surface of the tongue.
Middle East respiratory syndrome
A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli).
MERS
B-lymphoblastic leukemia/lymphoma with BCR-ABL1
A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein.
B-ALL with BCR-ABL1
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1
B-lymphoblastic leukemia/lymphoma MLL rearranged
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged
B-ALL KMT2A rearranged
B-lymphoblastic leukemia/lymphoma KMT2A rearranged
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
B-ALL with ETV6-RUNX1
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes.
B-ALL with hyperdiploidy
B-lymphoblastic leukemia/lymphoma with hypodiploidy
A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes.
B-ALL with hypodiploidy
B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
B-ALL with IL3-IGH
B-lymphoblastic leukemia/lymphoma with IL3-IGH
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH
B-lymphoblastic leukemia/lymphoma with TCF3-PBX1
A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.
B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
B-ALL with TCF3-PBX1
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1
B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like
A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.
B lymphoblastic leukemia/lymphoma, BCR-ABL1-like
B-ALL BCR-ABL1–like
B-lymphoblastic leukemia/lymphoma with iAMP21
A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
B-ALL with iAMP21
Intrachromosomal amplification of chromosome 21 (iAMP21)
calcium oxalate nephrolithiasis
A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.
nephrolithiasis
A kidney disease characterized by the formation of stoney concentrations in the kidneys.
Stone - kidney/ureter
kidney stones
urolithiasis
A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract.
urinary system disease
A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
Non-neoplastic urinary tract disease
urinary tract disease
uric acid urolithiasis
An urolithiasis in which the composition of the stones is predominantly urate.
45,X/46,XY mixed gonadal dysgenesis
A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.
mixed gonadal dysgenesis
A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
nonsyndromic aplasia cutis congenita
A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11.
atrial standstill 1
A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype.
atrial standstill 2
A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36.
diaphyseal medullary stenosis with malignant fibrous histiocytoma
An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
Hardcastle syndrome
bone dysplasia-medullary fibrosarcoma syndrome
diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
warfarin resistance
An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin.
warfarin sensitivity
An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin.
spinal muscular atrophy type 0
A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.
very severe spinal muscular atrophy
posterior polymorphous corneal dystrophy 4
A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22.
Meesmann corneal dystrophy 1
A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21.
Meesmann corneal dystrophy 2
A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13.
fibrochondrogenesis 1
A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21.
fibrochondrogenesis 2
A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3.
luminal breast carcinoma B
A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1.
Luminal B Breast Carcinoma
Stickler syndrome 2
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.
Stickler syndrome 1
A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
otospondylomegaepiphyseal dysplasia, autosomal dominant
An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.
mucolipidosis III gamma
A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13.
neuronal intestinal dysplasia type A
An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.
neuronal intestinal dysplasia type B
An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus.
X-linked chronic idiopathic intestinal pseudo-obstruction
An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28.
autosomal dominant familial visceral neuropathy
An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait.
diffuse midline glioma, H3 K27-altered
A histone mutated tumor that is characterized by loss of histone H3 p.K28me3 (K27me3) methylation and located throughout the midline structures of the central nervous system. Methylation loss may be due to p.K28M (K27M) mutation in one of the histone H3 isoforms (H3.1, H3.2, or H3.3), overexpression of EZHIP, or mutation of the EGFR gene.
diffuse intrinsic pontine glioma
diffuse midline glioma, H3 K27M-mutant
histone mutated tumor
A high grade glioma that has_material_basis_in mutations in the genes encoding histones.
histone mutated tumour
aortic dissection
An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.
aortic disease
An artery disease that is characterized by degeneration of the cells composing the aortic wall.
aortic disorder
disorder of the aorta
tubular aggregate myopathy 2
A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.
reducing body myopathy 1B
A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.
mosaic variegated aneuploidy syndrome 3
A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.
Noonan syndrome-like disorder with loose anagen hair
A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.
Noonan syndrome-like disorder with loose anagen hair 1
A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.
Noonan syndrome-like disorder with loose anagen hair 2
A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23.
Burn-McKeown syndrome
A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature.
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome
Winchester syndrome
A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet.
Opitz GBBB syndrome
A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22.
Opitz G/BBB Syndrome
Opitz GBBB syndrome type I
Teebi hypertelorism syndrome 1
A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
Opitz GBBB syndrome type II
SPECC1L-related hypertelorism syndrome
Teebi hypertelorism syndrome-1
Teebi hypertelorism syndrome
A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features.
Brachycephalofrontonasal dysplasia
glutathione synthetase deficiency
An amino acid metabolic disorder characterized by the lack of glutathione production.
caudal regression syndrome
A physical disorder that is characterized by impairment of the development of the lower half of the body.
caudal dysgenesis syndrome
caudal dysplasia sequence
caudal regression sequence
sacral agenesis
sacral defect with anterior meningocele
by claudiasbj: The reasoning for the obsolescence and merging of prothrombin thrombophilia (DOID:0080701) into thrombophilia due to thrombin defect (DOID:0111907) is detailed in GitHub ticket #1567: https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1567
obsolete prothrombin thrombophilia
A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11.
thrombophilia due to thrombin defect
A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
THPH1
prothrombin thrombophilia
prothrombin-related thrombophilia
thrombophilia due to factor 2 defect
medulloblastoma WNT activated
A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
medulloblastoma SHH activated
A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
medulloblastoma SHH activated and TP53 mutant
A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
medulloblastoma SHH activated and TP53 wild-type
A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
Medulloblastoma SHH-Activated TP53-Wildtype
medulloblastoma non-WNT/non-SHH
A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
medulloblastoma non-WNT/non-SHH group 3
A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
medulloblastoma non-WNT/non-SHH group 4
A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present.
NK cell deficiency
A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood.
multisystem inflammatory syndrome in children
A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19.
MIS-C
multisystem inflammatory disorder in children and adolescents
paediatric inflammatory multisystemic syndrome
gene duplication disease
A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.
gene duplication syndrome
obsolete MECP2 duplication syndrome
A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking.
hereditary alpha tryptasemia syndrome
A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems.
developmental and epileptic encephalopathy 82
A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.
DEE82
early infantile epileptic encephalopathy 82
infantile liver failure syndrome
A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.
infantile liver failure syndrome 1
An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.
Distal myopathy with rimmed vacuoles is a valid exact synonym (GNE gene), this name has been reused by OMIM for another disease, MIM:617158 (SQSTM1 gene) [LS].
GNE myopathy
A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
Distal myopathy, Nonaka type
Hereditary Inclusion Body Myopathy
Nonaka myopathy
inclusion body myopathy 2
Distal Myopathy with Rimmed Vacuoles
congenital myopathy 6
A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.
congenital myopathy 6 with ophthalmoplegia
inclusion body myopathy 3
proximal myopathy and ophthalmoplegia
autosomal dominant congenital deafness with onychodystrophy
A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.
calvarial doughnut lesions with bone fragility
An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.
Kenny-Caffey syndrome type 1
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
Kenny-Caffey syndrome
A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.
Kenny-Caffey syndrome type 2
A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.
BASAN syndrome
An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet.
Ehlers-Danlos syndrome classic type 2
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.
Ehlers-Danlos syndrome arthrochalasia type 1
An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.
Ehlers-Danlos syndrome arthrochalasia type 2
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.
brittle cornea syndrome 2
An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27.
Ehlers-Danlos syndrome cardiac valvular type
An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21.
Ehlers-Danlos syndrome classic-like 1
An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21.
Ehlers-Danlos syndrome classic-like 2
An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.
Ehlers-Danlos syndrome dermatosparaxis type
An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.
Ehlers-Danlos syndrome kyphoscoliotic type 1
An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.
Ehlers-Danlos syndrome kyphoscoliotic type 2
An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.
Ehlers-Danlos syndrome musculocontractural type 1
An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.
Ehlers-Danlos syndrome musculocontractural type 2
An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
Ehlers-Danlos syndrome spondylodysplastic type 1
An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
Ehlers-Danlos syndrome spondylodysplastic type 3
An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features.
Libman-Sacks endocarditis
A nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.
Libmann–Sachs, Endocarditis in systemic lupus erythematosus
limbic encephalitis
An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes.
encephalitis
A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
autoimmune cholangitis
An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.
autoimmune cholangiopathy
autoimmune hepatitis
An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
Autoimmune chronic active hepatitis
autoimmune hepatitis with centrilobular necrosis
transverse myelitis
A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below.
myelitis
A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
antisynthetase syndrome
An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases.
polymyositis
A myositis that is characterized by muscle weakness affecting both sides of your body.
myositis
A myopathy characterized by muscle inflammation.
Inflammatory disorder of muscle
Sweet syndrome
A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.
Acute Febrile Neutrophilic Dermatosis
Sweet's syndrome
chronic urticaria
An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.
chronic inducible urticaria
A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.
chronic spontaneous urticaria
A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus.
chronic idiopathic urticaria
erythema nodosum
A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.
panniculitis
A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
keratosis pilaris atrophicans
An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin.
keratosis pilaris atrophicans faciei
A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.
keratosis follicularis spinulosa decalvans
A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma.
X-linked keratosis follicularis spinulosa decalvans
A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene.
autosomal dominant keratosis follicularis spinulosa decalvans
A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance.
atrophoderma vermiculata
A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead.
Fanconi renotubular syndrome 1
A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21.
Fanconi syndrome
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Congenital Fanconi syndrome
De Toni-Fanconi syndrome
Fanconi-de Toni syndrome
Fanconi-de-Toni syndrome
Infantile nephropathic cystinosis
Lignac-Fanconi syndrome
adult Fanconi Anemia
adult Fanconi syndrome
deToni Fanconi syndrome
Fanconi renotubular syndrome 2
A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35.
Fanconi renotubular syndrome 3
A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27.
Fanconi renotubular syndrome 4
A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13.
Fanconi renotubular syndrome 5
A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.
Acadian-variant Fanconi syndrome
autosomal recessive limb-girdle muscular dystrophy type 2Z
An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.
limb-girdle muscular dystrophy 21
diffuse gastric cancer
A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.
stomach cancer
A gastrointestinal system cancer that is located_in the stomach.
gastric cancer
gastric neoplasm
hereditary diffuse gastric cancer
A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes.
autosomal recessive intellectual developmental disorder 72
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31.
autosomal recessive intellectual developmental disorder-72
autosomal recessive mental retardation 72
erythrokeratodermia variabilis et progressiva 6
An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
autoimmune myocarditis
An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle.
myocarditis
An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
Myocardial inflammation
The broad synonym 'early-onset vitamin B6-dependent epilepsy' is included only on this disease because it was a prior label for this disease. It might now be used more broadly.
early-onset vitamin B6-dependent epilepsy 1
A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
early-onset vitamin B6-dependent epilepsy
EPEO1
PDE-PLPBP
autosomal dominant beta thalassemia
A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
inclusion body beta-thalassemia
beta thalassemia
A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
beta-thalassemia major
A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.
Cooley's anemia
beta-thalassemia intermedia
A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life.
delta beta-thalassemia
A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.
thalassemia minor
A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia.
complete androgen insensitivity syndrome
An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.
androgen insensitivity syndrome
A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
Androgen resistance syndrome
Androgen-Insensitivity Syndrome
Feminisation - testicular
Goldberg - Maxwell syndrome
Goldberg-Maxwell syndrome
testicular Feminization syndrome
testicular feminization
partial androgen insensitivity syndrome
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.
Reifenstein syndrome
lung sarcomatoid carcinoma
A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation.
Sarcomatoid carcinoma of the lung
pulmonary sarcomatoid carcinoma
transient infantile liver failure
A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13.
plasmablastic lymphoma
A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.
acute erythroid leukemia
An acute myeloid leukemia that is characterized by a predominant immature erythroid population.
benign exocrine pancreas neoplasm
An endocrine organ benign neoplasm arising from the exocrine pancreas.
mucinous pancreas adenocarcinoma
A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
pancreatic adenocarcinoma
A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
pancreas adenocarcinoma
adenocarcinoma of the pancreas
obsolete X-linked sensorineural deafness
X-linked deafness 2
An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.
DFN3
DFNX2
Nance deafness
X-linked deafness type 2
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
X-linked sensorineural deafness
X-linked stapes gusher syndrome
conductive deafness 3 with stapes fixation
conductive deafness with stapes fixation
mixed deafness with perilymphatic gusher
urinary tract infection
An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.
UTI
Brown-Vialetto-Van Laere syndrome 1
A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.
Brown-Vialetto-Van Laere syndrome 2
A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.
SCABD
autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD2
spinocerebellar ataxia with blindness and deafness 2
SCAR3
autosomal recessive spinocerebellar ataxia 3
autosomal recessive spinocerebellar ataxia type 3
proximal symphalangism 1
A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
proximal symphalangism 2
A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Treacher Collins syndrome 1
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.
Treacher Collins syndrome
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
Franceschetti syndrome
mandibulofacial dysostosis
Treacher Collins syndrome 2
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
Treacher Collins syndrome 3
A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
Treacher Collins syndrome 4
A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.
childhood acute megakaryoblastic leukemia
An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
pediatric non-Down syndrome acute megakaryoblastic leukemia
acute megakaryocytic leukemia
An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.
Megakaryocytic myelosis
Thrombocytic leukaemia
acute basophilic leukemia
An acute myeloid leukemia that is characterized by primary differentiation to basophils.
core binding factor acute myeloid leukemia
An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
nasal type extranodal NK/T-cell lymphoma
A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.
nasal cavity cancer
A respiratory system cancer that is located_in the nasal cavity.
malignant neoplasm of nasal cavities
malignant tumor of the nasal cavity
myeloid leukemia associated with Down Syndrome
An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene.
sinonasal undifferentiated carcinoma
A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.
nasal cavity carcinoma
A nasal cavity cancer that has_material_basis_in epithelial cells.
cancer of nasal cavity
carcinoma of nasal cavity
salivary gland mucinous adenocarcinoma
A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
autosomal dominant craniometaphyseal dysplasia
A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.
autosomal recessive craniometaphyseal dysplasia
A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.
cranioectodermal dysplasia 1
A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.
cranioectodermal dysplasia 2
A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24.
cranioectodermal dysplasia 3
A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
cranioectodermal dysplasia 4
A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
autosomal dominant craniodiaphyseal dysplasia
A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21.
mammary analogue secretory carcinoma
A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.
chronic asthma
An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.
asthma
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
bronchial hyperreactivity
chronic obstructive asthma
chronic obstructive asthma with acute exacerbation
chronic obstructive asthma with status asthmaticus
acute asthma
An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.
extrinsic asthma
A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.
intermittent asthma
A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.
persistent mild asthma
A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity.
persistent moderate asthma
A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity.
childhood-onset asthma
A chronic asthma that is characterized by first presentation in early childhood.
childhood asthma
adult-onset severe asthma
A chronic asthma that is characterized by first presentation in adulthood.
T2-high asthma
A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
type 2 high endotype
T2-low asthma
A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.
type 2 low endotype
environmentally induced asthma
An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter.
environment-induced asthma
irritant asthma
intrinsic asthma
A chronic asthma that is triggered by factors not attributable to allergies.
non-atopic asthma
occupational asthma
An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.
exercise-induced bronchoconstriction
An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.
exercise-induced asthma
aspirin-induced respiratory disease
An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.
aspirin-sensitive asthma
near-fatal asthma
An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.
persistent severe asthma
A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity.
thunderstorm triggered asthma
An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen.
thunderstorm asthma
thunderstorm related asthma
nocturnal asthma
A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.
human cytomegalovirus infection
A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).
VEXAS syndrome
A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11.
vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
low grade glioma
A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes).
benign glioma
childhood low-grade glioma
A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.
pediatric low-grade glioma
subjective cognitive decline
A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.
cognitive disorder
A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
cognitive disease
Organic Mental disorder
mild cognitive impairment
A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living.
laryngomalacia
A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying.
congenital laryngomalacia
laryngeal disease
acquired laryngomalacia
A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.
TORCH syndrome
A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms.
growth hormone insensitivity syndrome with immune dysregulation 1
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.
growth hormone insensitivity syndrome with immune dysregulation 2
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.
X-linked warfarin sensitivity
An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27.
optic atrophy 12
An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.
optic atrophy
An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
atrophy of optic disc
pemphigoid
An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.
bullous skin disease
A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested.
dermatitis
A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
eczema
skin inflammation
intracranial meningioma
A meningioma that arises within the cranial cavity.
supratentorial meningioma
A meningioma that affects the supratentorial brain.
omodysplasia 1
An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
omodysplasia 2
An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.
latent autoimmune diabetes in adults
A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.
LADA
type 1.5 diabetes
type 1 diabetes mellitus
A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.
IDDM
insulin-dependent diabetes mellitus
type I diabetes mellitus
long COVID
A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia.
PASC
chronic COVID-19
post-COVID syndrome
post-acute sequelae of SARS-CoV-2 infection
ocular motor apraxia, Cogan type
An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements.
pemphigus foliaceus
A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin.
pemphigus foliaceous
IgA pemphigus
A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence.
paraneoplastic pemphigus
A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin.
anaplastic pleomorphic xanthoastrocytoma
A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.
malignant astrocytoma
A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
Astrocytic tumor
astrocytoma of Cerebrum
astrocytoma of brain
astroglioma
cerebral astrocytoma
Parkinsonism
A movement disorder that is characterized by disturbances of balance, gait and posture.
vascular Parkinsonism
A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.
primary ovarian insufficiency 1
A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).
FMR1-related primary ovarian insufficiency
Fragile X-associated primary ovarian insufficiency
premature ovarian failure 1
primary ovarian insufficiency
An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
hypergonadotropic hypogonadism
premature ovarian failure
premature ovarian insufficiency
primary ovarian insufficiency 2A
A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22.
primary ovarian insufficiency 2B
A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene.
primary ovarian insufficiency 3
A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22.
primary ovarian insufficiency 4
A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11.
primary ovarian insufficiency 5
A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35.
primary ovarian insufficiency 6
A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13.
primary ovarian insufficiency 7
A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.
primary ovarian insufficiency 8
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22.
primary ovarian insufficiency 9
A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22.
primary ovarian insufficiency 10
A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p.
primary ovarian insufficiency 11
A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11.
primary ovarian insufficiency 12
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26.
primary ovarian insufficiency 13
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.
primary ovarian insufficiency 14
A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31.
primary ovarian insufficiency 15
A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21.
primary ovarian insufficiency 16
A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.
primary ovarian insufficiency 17
A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.
IDH-mutant anaplastic astrocytoma
An anaplastic astrocytoma carrying IDH mutations.
anaplastic astrocytoma
A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.
grade III Astrocytic tumor
grade III astrocytoma
IDH-wildtype anaplastic astrocytoma
An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.
The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant.
astrocytoma, IDH-mutant, grade 4
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
IDH-wildtype glioblastoma
A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.
high grade glioma
A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
Neuroglial tumor
glial cell tumor
glioma, malignant
malignant Neuroglial tumor
malignant glioma
diffuse glioma, H3 G34 mutant
A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein.
pleomorphic xanthoastrocytoma BRAF mutant
An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations.
IDH-mutant and 1p/19q-codeleted oligodendroglioma
An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
Oligodendroglioma, IDH-mutant and 1p/19q-codeleted
anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted
anaplastic oligodendroglioma
An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).
vitamin D-dependent rickets
A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.
vitamin D-dependent rickets type 2A
A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.
vitamin D-dependent rickets type 2B
A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.
vitamin D-dependent rickets type 1A
A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.
vitamin D-dependent rickets type 1B
A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.
spinal ependymoma, MYCN-amplified
A spinal cord ependymoma that is characterized by MYCN amplification.
Spinal Cord Ependymoma, MYCN Amplified
spinal ependymoma, MYCN
spinal cord ependymoma
A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal.
Ependymal neoplasm of the Spinal Cord
Spinal ependymoma
posterior fossa ependymoma
A high grade ependymoma that is located within the posterior fossa.
high grade ependymoma
A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.
Ependymal neoplasm
ependymal tumors
malignant ependymoma
supratentorial ependymoma
A high grade ependymoma that is located within the supratentorial brain.
YAP1-MAMLD1 fusion-positive supratentorial ependymoma
A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion.
RELA fusion-positive ependymoma
A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.
C11orf95 fusion-positive supratentorial ependymoma
Supratentorial C11ORF95-RELA fused ependymoma
Bainbridge-Ropers syndrome
A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.
ASXL3-related disorder
lipofibromatosis-like neural tumor
A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion.
rapidly involuting congenital hemangioma
A hemangioma that is characterized by complete regression.
pericytoma with t(7;12)
A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion.
perivascular tumor
malignant perivascular cancer
solitary fibrous tumor/hemangiopericytoma
A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.
cerebellofaciodental syndrome
A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
cerebellar-facial-dental syndrome
lung pleomorphic carcinoma
A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung.
lung cancer
A respiratory system cancer that is located_in the lung.
lung neoplasm
pleomorphic carcinoma
A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma.
oral rhabdomyosarcoma
A rhabdomyosarcoma located in the oral cavity.
rhabdomyosarcoma
A skeletal muscle cancer that arise from skeletal muscle progenitors.
bladder sarcomatoid transitional cell carcinoma
A sarcomatoid transitional cell carcinoma that is located_in the bladder.
urinary bladder cancer
An urinary system cancer that results_in malignant growth located_in the urinary bladder.
bladder cancer
tumor of the bladder
sarcomatoid transitional cell carcinoma
A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
transitional cell carcinoma, sarcomatoid
transitional spindle cell carcinoma
bladder small cell carcinoma
A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.
bladder carcinoma
A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of urinary bladder
embryonal tumor with multilayered rosettes, C19MC-altered
An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42).
ependymoblastoma
embryonal tumor with multilayered rosettes
A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.
Embryonal tumour with multilayered rosettes
astroblastoma, MN1-altered
An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.
CNS high-grade neuroepithelial tumors with MN1 alteration
astroblastoma
A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.
central nervous system neuroblastoma
A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres.
central nervous system germ cell tumor
A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
central nervous system germ cell tumour
germ cell tumor of the CNS
germ cell tumour of the CNS
CNS neuroblastoma with FOXR2 activation
A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.
CNS NB-FOXR2
CNS neuroblastoma, FOXR2-activated
central nervous system neuroblastoma with FOXR2 activation
Cockayne syndrome A
A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.
Cockayne syndrome type 1
Cockayne syndrome type I
Cockayne syndrome
A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Neill-Dingwall syndrome
Cockayne's syndrome
Cockayne syndrome B
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.
Cockayne syndrome 2
Cockayne syndrome type II
castration-resistant prostate carcinoma
A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
prostate carcinoma
A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of prostate
carcinoma of prostate
cerebrooculofacioskeletal syndrome
A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
cerebrooculofacioskeletal syndrome 1
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
cerebrooculofacioskeletal syndrome 2
A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.
cerebrooculofacioskeletal syndrome 3
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33.
cerebrooculofacioskeletal syndrome 4
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
histiocytic sarcoma
A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
histiocytic and dendritic cell cancer
A sarcoma and hematologic cancer that derives_from follicular lymphoma.
histiocytic and dendritic cell
erythroleukemia
An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
sporadic amyotrophic lateral sclerosis
An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS.
polymicrogyria
A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri).
unilateral focal polymicrogyria
A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
bilateral generalized polymicrogyria
A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain.
bilateral frontal polymicrogyria
A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability.
complex cortical dysplasia with other brain malformations 14A
A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.
CDCBM14A
bilateral frontoparietal polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21.
bilateral temporooccipital polymicrogyria
complex cortical dysplasia with other brain malformations 14B
A complex cortical dysplasia with other brain malformations that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.
bilateral perisylvian polymicrogyria
cytochrome P450 oxidoreductase deficiency
A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.
7q11.23 duplication syndrome
A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7.
7q11.23 microduplication syndrome
William-Beuren region duplication syndrome
chromosome 7q11.23 duplication syndrome
apolipoprotein A-IV associated amyloidosis
An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease.
AApoAIV amyloidosis
renal AApoAIV amyloidosis
dialysis-related amyloidosis
An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy.
ABeta2M amyloidosis
Amyloidosis Beta2M
Aβ2M amyloidosis
Beta2-microglobulinic amyloidosis
dialysis-related beta2-microglobulin amyloidosis
variant ABeta2M amyloidosis
An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
Autosomal dominant beta2-microglobulinic amyloidosis
primary localized cutaneous amyloidosis 1
A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.
familial primary localized cutaneous amyloidosis-1
primary localized cutaneous amyloidosis 2
A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11.
primary localized cutaneous amyloidosis 3
A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.
Amyloidosis cutis dyschromica
immunoglobulin light chain amyloidosis
An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.
AL amyloidosis
Amyloidosis primary systemic
Light chain amyloidosis
Primary AL amyloidosis
Primary systemic AL amyloidosis
Primary systemic amyloidosis
Systemic AL amyloidsis
immunoglobulin heavy chain amyloidosis
An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm.
AH amyloidosis
Amyloidosis derived from immunoglobulin heavy chain
Heavy chain amyloidosis
Ig heavy-chain–associated amyloidosis
immunoglobulin heavy-and-light chain
An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.
AH/AL amyloidosis
Ig heavy-and-light-chain amyloidosis
serum amyloid A amyloidosis
An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body.
AA amyloidosis
Apo serum amyloid A amyloidosis
inflammation AA amyloidosis
secondary amyloidosis
splenic disease
Dyssplenism
Spleen disease
wild-type amyloidosis
An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.
ATTRwt amyloidosis
Age related amyloidosis
Old age amyloidosis
senile systemic amyloidosis
wild-type ATTR amyloidosis
wild-type transthyretin cardiac amyloidosis
nonobstructive coronary artery disease
A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.
non-CAD
coronary artery disease
An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
CHD
Coronary disease
Ischemic Heart Disease
coronary arteriosclerosis
coronary heart disease
myocardial ischemia
coronary stenosis
Coronary artery stenosis
hereditary angioedema type I
A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.
hereditary angioedema type II
hereditary angioedema
An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.
HANE
Hereditary angioneurotic edema
hereditary angioedema type III
A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35.
acquired angioedema
An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.
angioedema
A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.
Angioneurotic oedema
Quincke's edema
angioneurotic edema
giant urticaria
46,XX sex reversal 5
A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.
46,XX sex reversal
A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.
46,XX testicular DSD
46,XX testicular disorder of sex development
De la Chapelle syndrome
SRXX
XX, male syndrome
familial Behcet-like autoinflammatory syndrome
An autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23.
A20 haploinsufficiency
abdominal obesity-metabolic syndrome 4
An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36.
retinal dystrophy with leukodystrophy
A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12.
ACBD5 deficiency
acute flaccid myelitis
A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs.
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.
alcoholic ketoacidosis
A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy.
alopecia-mental retardation syndrome 4
An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
alopecia-mental retardation syndrome 3
An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2.
AMED syndrome
A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance.
AMEDS
amelogenesis imperfecta type 1J
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13.
Amelogenesis imperfecta, type IJ
childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
childhood embryonal tumor with multilayered rosettes, C19MC-altered
An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.
childhood cerebral ependymoblastoma
pediatric cerebral ependymoblastoma
primary hypoalphalipoproteinemia 1
A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.
familial HDL deficiency
familial hypoalphalipoproteinemia
hypolipoproteinemia
A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.
Hypolipoproteinaemia
Lipoprotein deficiencies
primary hypoalphalipoproteinemia 2
A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.
Apolipoprotein A-I deficiency
arrhythmogenic right ventricular dysplasia 14
An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.
amelogenesis imperfecta type 2A6
An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.
Amelogenesis imperfecta, hypomaturation type, IIA6
anauxetic dysplasia 2
A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.
anauxetic dysplasia 3
A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13.
intracranial berry aneurysm 1
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2.
intracranial berry aneurysm 2
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13.
intracranial berry aneurysm 3
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36.
intracranial berry aneurysm 4
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3.
intracranial berry aneurysm 5
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22.
intracranial berry aneurysm 6
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21.
intracranial berry aneurysm 7
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25.
intracranial berry aneurysm 8
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23.
intracranial berry aneurysm 9
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1.
intracranial berry aneurysm 10
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1.
intracranial berry aneurysm 11
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22.
intracranial berry aneurysm 12
An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14.
acute myeloid leukemia with BCR-ABL1
An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.
Acute myeleoid leukemia with BCR-ABL1
aortic valve disease 3
A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24.
arthrogryposis multiplex congenita-1
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13.
arthrogryposis multiplex congenita-3
An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.
arthrogryposis multiplex congenita-4
An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23.
Zain syndrome
arthrogryposis multiplex congenita-5
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.
X-linked intellectual disability-hypotonic facies syndrome-1
A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome.
X-linked mental retardation-hypotonic facies syndrome-1
X-linked intellectual developmental disorder 109
A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
Fragile XE syndrome
fragile site on chromosome Xq28
syndromic X-linked intellectual disorder Lujan-Fryns-type
A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.
Ehlers-Danlos syndrome periodontal type 1
An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13.
Ehlers-Danlos syndrome periodontal type 2
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.
pretibial dystrophic epidermolysis bullosa
An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa.
King Denborough syndrome
A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.
congenital myopathy 1B
A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.
autosomal recessive congenital myopathy 1B
multiminicore disease
rhabdomyolysis-myalgia syndrome
A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.
autoimmune epilepsy
An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.
tuberculous encephalopathy
A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.
diffuse large B-cell lymphoma activated B-cell type
A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
DLBCL ABC type
diffuse large B-cell lymphoma germinal center B-cell type
A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.
acute necrotizing pancreatitis
An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.
acute pancreatitis
A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.
acute hemorrhagic pancreatitis
An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.
Cowden syndrome 4
A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23.
Cowden syndrome 5
A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.
Cowden syndrome 6
A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3.
CWS6
Cowden syndrome 7
A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11.
high-grade B-cell lymphoma double-hit/triple-hit
A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
HGBL-DH/TH
High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements
parsley allergy
A vegetable allergy triggered by parsley (Petroselinum).
dill allergy
A food allergy triggered by dill (Anethum graveolens).
RNASET2-deficient cystic leukoencephalopathy
A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.
cystic leukoencephalopathy without megalencephaly
infantile-onset RNASET2 deficient cystic leukoencephalopathy
Nomenclature update on Nov 2025 (claudiasbj)
Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia
A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21.
GNB5-related intellectual disability-cardiac arrhythmia syndrome
intellectual developmental disorder with cardiac arrhythmia
Bardet-Biedl syndrome 20
A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23.
Bardet-Biedl syndrome
A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Bardet-Biedl syndrome 21
A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22.
Bardet-Biedl syndrome 22
A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.
critical COVID-19
A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy.
severe COVID-19
A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.
non-severe COVID-19
A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19.
congenital fibrosis of the extraocular muscles 1
A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.
congenital fibrosis of the extraocular muscles 2
A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13.
congenital fibrosis of the extraocular muscles 3A
A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
congenital fibrosis of the extraocular muscles 3C
A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11).
congenital fibrosis of the extraocular muscles 5
A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.
Tukel syndrome
A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.
congenital fibrosis of the extraocular muscles 4
cone dystrophy with supernormal rod responses
A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24.
retinal cone dystrophy 3B
retinal cone dystrophy 4
A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13.
retinal cone dystrophy 1
A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration.
achromatopsia 6
A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13.
retinal cone dystrophy 3A
benign peritoneal solitary fibrous tumor
A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
glycogen-rich carcinoma
A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.
breast adenocarcinoma
A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
Mammary adenocarcinoma
adenocarcinoma of breast
central conducting lymphatic anomaly
A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22.
lymphatic malformation-7
generalized lymphatic anomaly
A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations.
glutatione synthetase deficiency with 5-oxoprolinuria
A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline.
mixed phenotype acute leukemia with BCR-ABL1
An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.
Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
acute biphenotypic leukemia
An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens.
mixed phenotype acute leukemia
mixed phenotype acute leukemia with MLL rearranged
An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.
Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged
mixed phenotype acute leukemia, B/myeloid
An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.
mixed phenotype acute leukemia, T/myeloid
An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.
B-cell prolymphocytic leukemia
A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood.
B Cell Prolymphocytic Leukemia
Prolymphocytic leukemia, B-cell type
prolymphocytic leukemia
A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.
PLL
Prolymphocytic leukaemia
T-cell prolymphocytic leukemia
A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.
Prolymphocytic leukemia, T-cell type
T Cell Prolymphocytic Leukemia
fetal akinesia deformation sequence syndrome X-linked
A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures.
fetal akinesia deformation sequence syndrome
A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
FADS
Pena-Shokeir syndrome type 1
arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
fetal akinesia sequence
foetal akinesia deformation sequence syndrome
foetal akinesia sequence
frontonasal dysplasia
A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak.
frontonasal dysplasia 1
A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13.
Frontorhiny
frontonasal dysplasia 2
A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11.
frontonasal dysplasia 3
A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21.
congenital limbs-face contractures-hypotonia-developmental delay syndrome
A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33.
CLIFAHDD syndrome
congenital contractures of the limbs and face, hypotonia, and developmental delay
hepatosplenic T-cell lymphoma
A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.
primary cutaneous gamma-delta T-cell lymphoma
A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
Primary Cutaneous Gamma-Delta T Cell Lymphomas
cutaneous gamma/delta T-cell lymphoma
microcephaly, growth deficiency, seizures, and brain malformations
A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22.
neurobehavioral disorder with prenatal alcohol exposure
A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.
central diabetes insipidus
A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis.
diabetes insipidus
A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.
gestational diabetes insipidus
A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy.
transient diabetes insipidus of pregnancy
dipsogenic diabetes insipidus
A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability.
X-linked central diabetes insipidus
A central diabetes insipidus that has_material_basis_in X-linked inheritance.
X-linked neurohypophyseal diabetes insipidus
X-linked nephrogenic diabetes insipidus
A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.
nephrogenic diabetes insipidus type 1
nephrogenic diabetes insipidus
A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
vasopressin-resistant diabetes insipidus
nephrogenic diabetes insipidus type 2
A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.
autosomal nephrogenic diabetes insipidus-2
obsolete diabetes
A glucose metabolism disease that is characterized by high blood glucose.
DICER1 syndrome
A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression.
PPB familial tumor susceptibility syndrome
Pleuro-pulmonary blastoma familial tumor susceptibility
Pleuro-pulmonary blastoma familial tumor susceptibility syndrome
Pleuropulmonary blastoma familial tumor susceptibility syndrome
BN2 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.
BN2 DLBCL
EZB diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
EZB DLBCL
MCD diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
MCD DLBCL
N1 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.
N1 DLBCL
ST2 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.
ST2 DLBCL
A53 diffuse large B-cell lymphoma
A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.
A53 DLBCL
EZB-MYC+ diffuse large B-cell lymphoma
An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.
EZB-MYC+ DLBCL
EZB-MYC- diffuse large B-cell lymphoma
An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.
EZB-MYC- DLBCL
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills.
Cerebro-facio-thoracic dysplasia
Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome
TMCO1 defect syndrome
Teebi hypertelorism syndrome 2
A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21.
Marsili syndrome
A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
congenital analgesia
blastic plasmacytoid dendritic cell neoplasm
An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes.
Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor
Agranular CD4+ Natural Killer Cell Leukemia
Blastic NK-Cell Lymphoma
Blastic Natural Killer Leukemia/Lymphoma
CD4+/CD56+ Hematodermic Neoplasm
natural killer (NK) cell leukemia/lymphoma
acute leukemia
A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
Stem cell Leukemia
Stem cell leukaemia
ectodermal dysplasia and immune deficiency
An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.
Anhidrotic ectodermal dysplasia with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency
ectodermal dysplasia and immunodeficiency 1
An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28.
ectodermal dysplasia and immunodeficiency 2
An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13.
acute myeloid leukemia with t(6;9) (p23;q34.1)
An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia.
Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214
DEK-NUP214
acute myeloid leukemia with t(6;9)(p23;q34)
acute promyelocytic leukemia with PML-RARA
An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate.
acute promyelocytic leukemia, t(15;17)(q22;q11-12)
acute myelomonocytic leukemia
An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.
acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)
An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression.
Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM
Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1
acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)
An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11.
Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
acute myeloid leukemia with abnormal marrow eosinophils
acute myeloid leukemia with minimal differentiation
An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.
AML-M0
Acute myeloid leukemia, minimal differentiation
acute myeloid leukemia without maturation
An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage.
acute myeloid leukemia with maturation
An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage.
chronic myelogenous leukemia, BCR-ABL1 positive
A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene.
Chronic myelogenous leukemia, BCR/ABL positive
acute myeloid leukemia with mutated NPM1
An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features.
acute myeloid leukemia with biallelic mutation of CEBPA
An acute myeloid leukemia with double mutations of the CEBPA gene.
acute myeloid leukemia with mutated RUNX1
An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.
acute myeloid leukemia with myelodysplasia-related changes
An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities.
acute myeloid leukemia with t(8;21); (q22; q22.1)
An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.
Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1
acute myeloid leukemia, t(8;21)(q22;q22)
acute myeloid leukemia with MLL rearrangement
An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.
Acute Myeloid Leukemia with KMT2A/MLL Rearrangement
acute myeloid leukemia, 11q23 abnormalities
acute myeloid leukemia with mutated CEBPA
An acute myeloid leukemia with non-germline mutations of the CEBPA gene.
acute myeloid leukemia with t(1;22)(p13;q13)
An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.
Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1
Rafiq syndrome
An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
autosomal recessive intellectual developmental disorder 13
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24.
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.
autosomal recessive mental retardation 36
spastic paraplegia with deafness
A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life.
Spastic paraparesis-deafness syndrome
Wells Jankovic Syndrome
nonautoimmune hyperthyroidism
A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31.
Congenital nonautoimmune hyperthyroidism
hyperthyroidism
A thyroid gland disease that involves an over production of thyroid hormone.
overactive thyroid
familial gestational hyperthyroidism
A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31.
hot water epilepsy
A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head.
bathing epilepsy
water immersion epilepsy
reflex epilepsy
A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
epilepsy, sensory-induced
keratosis palmoplantaris striata
A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm.
hot water epilepsy 1
A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3.
Hot Water Epilepsy, 1
hot water epilepsy 2
A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28.
Hot Water Epilepsy, 2
keratosis palmoplantaris striata 1
A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12.
keratosis palmoplantaris striata 2
A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24.
keratosis palmoplantaris striata 3
A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
osteosclerotic metaphyseal dysplasia
A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26.
Baraitser-Winter syndrome 1
A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.
Baraitser-Winter syndrome 2
A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
benign familial infantile seizures 1
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q.
Benign Familial Infantile Seizures, 1
benign familial infantile seizures 2
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11.
Benign Familial Infantile Seizures, 2
benign familial infantile seizures 3
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24.
Benign Familial Infantile Seizures, 3
benign familial neonatal-infantile seizures
benign familial infantile seizures 4
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1.
Benign Familial Infantile Seizures, 4
benign familial infantile seizures 5
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13.
Benign Familial Infantile Seizures, 5
See https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1494.
obsolete benign familial infantile seizures 6
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21.
Benign Familial Infantile Seizures, 6
nocturnal frontal lobe epilepsy-4
Graves ophthalmopathy
An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.
Graves orbitopathy
Thyroid associated ophthalmopathy
thyroid eye disease
inclusion body myopathy and brain white matter abnormalities
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.
multisystem proteinopathy 6
Catel Manzke syndrome
A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Micrognathia digital syndrome
X-linked mental retardation Gustavson type
A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26.
Gustavson type of X-linked syndromic intellectual developmental disorder
mental retardation with optic atrophy, deafness and seizures
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24.
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11.
DeSanto-Shinawi syndrome
A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11.
Chromosome 10p12-p11 deletion syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
mandibuloacral dysplasia
A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body.
mandibuloacral dysplasia type A lipodystrophy
A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.
mandibuloacral dysplasia type B lipodystrophy
A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.
BH4-deficient hyperphenylalaninemia C
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15.
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
BH4-deficient hyperphenylalaninemia D
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22.
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
3-methylglutaconic aciduria type 7a
A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type VII
MEGCANN
MGA7
MGCA7
3-methylglutaconic aciduria type 7b
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.
agammaglobulinemia 2
An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11.
agammaglobulinemia 1
An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.
agammaglobulinemia 3
An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2.
agammaglobulinemia 6
An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23.
agammaglobulinemia 7
An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13.
agammaglobulinemia 8A
An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13.
agammaglobulinemia 9
An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21.
agammaglobulinemia 10
An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11.
agammaglobulinemia 8B
An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13.
common variable immunodeficiency 1
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33.
common variable immunodeficiency
An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.
CVID
acquired agammaglobulinemia
acquired hypogammaglobulinemia
common variable agammaglobulinemia
sporadic hypogammaglobulinemia
common variable immunodeficiency 2
A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2.
common variable immunodeficiency 3
A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2.
common variable immunodeficiency 4
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13.
common variable immunodeficiency 5
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13.
common variable immunodeficiency 6
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p.
common variable immunodeficiency 7
A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32.
common variable immunodeficiency 8
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31.
common variable immunodeficiency-8 (CVID8) with autoimmunity
common variable immunodeficiency 10
A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24.
common variable immunodeficiency 11
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27.
common variable immunodeficiency 12
A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.
common variable immunodeficiency 13
A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12.
common variable immunodeficiency 14
A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.
dilated cardiomyopathy 1LL
A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36.
dilated cardiomyopathy 1MM
A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.
dilated cardiomyopathy 2C
A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
dilated cardiomyopathy 2D
A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
dilated cardiomyopathy 2E
A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
dilated cardiomyopathy 2F
A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32.
dilated cardiomyopathy 2G
A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
Duplicate of older term. Use 'term replaced by'. [JAB]
obsolete dilated cardiomyopathy 3B
A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21.
dilated cardiomyopathy 3B
A dilated cardiomyopathy that has_material_basis_in mutation in the dystrophin (DMD) gene encoding dystrophin on chromosome Xp21.
CMD3B
DMD-related dilated cardiomyopathy
X-linked dilated cardiomyopathy
XLCM
HMG-CoA synthase 2 deficiency
An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
Leber congenital amaurosis 19
A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.
Leber congenital amaurosis
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
LCA
Leber's amaurosis
Leber's congenital amaurosis
Leber's disease
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.
hypotonia, ataxia, and delayed development syndrome
A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26.
autosomal recessive intellectual developmental disorder 1
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25.
autosomal recessive intellectual developmental disorder 2
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26.
autosomal recessive intellectual developmental disorder 3
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13.
autosomal recessive intellectual developmental disorder 12
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34.
autosomal recessive intellectual developmental disorder 5
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15.
autosomal recessive intellectual developmental disorder 6
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16.
autosomal recessive intellectual developmental disorder 7
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22.
autosomal recessive intellectual developmental disorder 9/26
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus.
autosomal recessive intellectual developmental disorder 10/20
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus.
autosomal recessive intellectual developmental disorder 11
An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149.
autosomal recessive intellectual developmental disorder 4
An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3.
autosomal recessive intellectual developmental disorder 14
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13.
autosomal recessive intellectual developmental disorder 16
An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16.
autosomal recessive intellectual developmental disorder 18
An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23.
autosomal recessive intellectual developmental disorder 31
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838.
autosomal recessive intellectual developmental disorder 29
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392.
autosomal recessive intellectual developmental disorder 27
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26.
autosomal recessive intellectual developmental disorder 33
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925.
autosomal recessive intellectual developmental disorder 30
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651.
autosomal recessive intellectual developmental disorder 23
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421.
autosomal recessive intellectual developmental disorder 24
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668.
autosomal recessive intellectual developmental disorder 25
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033.
autosomal recessive intellectual developmental disorder 28
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609.
autosomal recessive intellectual developmental disorder 34
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22.
autosomal recessive intellectual developmental disorder 35
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258.
autosomal recessive intellectual developmental disorder 37
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21.
autosomal recessive intellectual developmental disorder 38
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13.
autosomal recessive intellectual developmental disorder 39
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12.
autosomal recessive intellectual developmental disorder 40
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24.
autosomal recessive intellectual developmental disorder 41
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.
autosomal recessive intellectual developmental disorder 43
An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.
autosomal recessive intellectual developmental disorder 44
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25.
autosomal recessive intellectual developmental disorder 45
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24.
autosomal recessive intellectual developmental disorder 46
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.
autosomal recessive intellectual developmental disorder 47
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43.
autosomal recessive intellectual developmental disorder 48
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.
autosomal recessive intellectual developmental disorder 50
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24.
autosomal recessive intellectual developmental disorder 51
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22.
autosomal recessive intellectual developmental disorder 52
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11.
autosomal recessive intellectual developmental disorder 54
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26.
autosomal recessive intellectual developmental disorder 56
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31.
autosomal recessive intellectual developmental disorder 74
An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.
autosomal recessive intellectual developmental disorder 57
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13.
autosomal recessive intellectual developmental disorder 58
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.
autosomal recessive intellectual developmental disorder 59
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21.
autosomal recessive intellectual developmental disorder 60
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13.
glycosylphosphatidylinositol biosynthesis defect 16
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.
Intellectual developmental disorder, autosomal recessive 62
autosomal recessive intellectual developmental disorder 63
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32.
autosomal recessive intellectual developmental disorder 64
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24.
autosomal recessive intellectual developmental disorder 65
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32.
autosomal recessive intellectual developmental disorder 66
An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13.
autosomal recessive intellectual developmental disorder 67
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15.
autosomal recessive intellectual developmental disorder 68
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13.
autosomal recessive intellectual developmental disorder 69
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12.
neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities
autosomal recessive intellectual developmental disorder 70
An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25.
autosomal recessive intellectual developmental disorder 71
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22.
autosomal recessive intellectual developmental disorder 73
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.
autosomal recessive intellectual developmental disorder 75
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15.
autosomal recessive intellectual developmental disorder 76
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33.
autosomal recessive intellectual developmental disorder 77
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
acromesomelic dysplasia 3
An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.
Demirhan-type acromesomelic dysplasia
acromesomelic dysplasia 4
An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21.
injection anthrax
An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.
injectional anthrax
injectional anthrax syndrome
peroxisome biogenesis disorder 1B
A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
peroxisome biogenesis disorder 3B
A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.
autoimmune interstitial lung, joint, and kidney disease
An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.
Autoimmune interstitial lung disease-arthritis syndrome
COPA syndrome
autoinflammation and autoimmunity, Systemic with immune dysregulation
systemic autoinflammation and autoimmunity with immune dysregulation 1
rhizomelic chondrodysplasia punctate type 4
A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
rhizomelic chondrodysplasia punctata
A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
Chondrodysplasia Punctata, Rhizomelic Form
pituitary blastoma
A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.
Pituitary Gland Blastoma
pituitary cancer
An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
Pituitary gland neoplasm
malignant Pituitary neoplasm
malignant tumor of pituitary gland
neoplasm of pituitary gland
pituitary gland cancer
pituitary neoplasm
Previously known as spinal paragangliomas.
cauda equina neuroendocrine tumor
A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.
Cauda equina neuroendocrine tumour
Spinal neuroendocrine tumors
cauda equina neoplasm
tumor of the Cauda Equina
teratoma with somatic-type malignancy
A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course.
teratoma
A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
dedifferentiated chondrosarcoma
A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component.
pineocytoma
An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation.
Pinealocytoma
Pinealoma
EWSR1-negative small round cell tumor
A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
EWSR1-Negative Small Blue Round Cell Tumor
small cell sarcoma
A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.
CIC-rearranged sarcoma
An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
Capicua transcriptional repressor (CIC)-rearranged sarcoma
papillary tumor of the pineal region
A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture.
Papillary tumour of the pineal region
pineal gland cancer
An endocrine gland located_in the pineal gland located in the brain.
Pineocytic tumor
malignant Pineal Region tumor
malignant tumor of pineal gland
neoplasm of pineal gland
neoplasm of the Pineal Region
pineal body neoplasm
tumor of the pineal region
supratentorial ependymoma, ZFTA fusion–positive
A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
supratentorial ependymoma, YAP1 fusion–positive
A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
posterior fossa group A ependymoma
A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
Posterior Fossa Ependymoma, Group A (PFA)
Posterior fossa group A (PFA) ependymoma
posterior fossa group B ependymoma
A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
Posterior Fossa Ependymoma, Group B (PFB)
Posterior fossa group B (PFB) ependymoma
astrocytoma, IDH-mutant, grade 2
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
astrocytoma, IDH-mutant, grade 3
An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
WHO combines desmophlastic infantile ganglioglioma and desmoplastic infantile astrocytoma.
desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma
A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells.
Desmoplastic Infantile Astrocytoma
desmoplastic infantile ganglioglioma
desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma
ganglioglioma
A cell type benign neoplasm that has_material_basis_in glial-type cells.
CNS ganglioglioma
adult ganglioglioma
childhood ganglioglioma
diffuse low-grade glioma, MAPK pathway–altered
A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.
angiocentric glioma
A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13.
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13.
NEDMCR syndrome
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R).
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.
IDDBAS
complex cortical dysplasia with other brain malformations 15
A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.
CDCBM15
PAMDDFS
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
graft-versus-host disease
An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.
GvHD
graft versus host disease
pulmonary venoocclusive disease 1
A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33.
OMIM has split this term into two subtypes.
pulmonary venoocclusive disease
A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.
pulmonary veno-occlusive disease
pulmonary venoocclusive disease 2
A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.
FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS
Smith-McCort dysplasia 1
A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
Smith-McCort dysplasia 2
A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.
Sandestig-Stefanova syndrome
A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34.
Siddiqi syndrome
A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13.
peroxisome biogenesis disorder 14B
A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21.
neurodevelopmental disorder with eye movement abnormalities and ataxia
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties.
NEDEMA
cerebellar atrophy, visual impairment, and psychomotor retardation
A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.
CAVIPMR
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.
diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
infant-type hemispheric glioma
A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.
diffuse astrocytoma, MYB- or MYBL1-altered
A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.
diffuse astrocytoma
A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures.
Diffuse astrocytoma, low grade
WHO grade II astrocytoma
pituicytoma
A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.
posterior pituitary gland neoplasm
A pituitary gland benign neoplasm that arises from the neurohypophysis.
Posterior Pituitary tumor
oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2
An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).
oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3
An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.
papillary glioneuronal tumor
A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.
Papillary glioneuronal tumour
rosette-forming glioneuronal tumor
A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.
RGNT
Rosette-forming glioneuronal tumour
myxoid glioneuronal tumor
A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.
Myxoid glioneuronal tumour
white sponge nevus 1
A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13.
white sponge nevus 2
A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21.
Antley-Bixler syndrome without disordered steroidogenesis
An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.
chronic traumatic encephalopathy
A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves.
tauopathy
A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
traumatic brain injury
A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.
salivary gland mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the salivary gland.
neuronal intranuclear inclusion disease
A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
essential tremor 6
An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
essential tremor
A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
benign essential tremor
essential hereditary tremor
shaky hand syndrome
oculopharyngodistal myopathy
A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities.
oculopharyngodistal myopathy 1
An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.
oculopharyngodistal myopathy 2
An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13.
oculopharyngodistal myopathy 3
An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21.
oculopharyngodistal myopathy 4
An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24.
intellectual developmental disorder with ocular anomalies and distinctive facial features
A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22.
IDDOF
MTSS2-related neurodevelopmental disorder
diffuse leptomeningeal glioneuronal tumor
A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.
Diffuse leptomeningeal glioneuronal tumour
multinodular and vacuolating neuronal tumor
A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.
high-grade astrocytoma with piloid features
An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.
polymorphous low grade neuroepithelial tumour of the young
A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.
Massively Calcified Low Grade Glioma
Polymorphous low-grade neuroepithelial tumour of the young
spindle cell oncocytoma
A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.
lymphomatoid granulomatosis
A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues.
grade I lymphomatoid granulomatosis
A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.
grade II lymphomatoid granulomatosis
A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.
grade III lymphomatoid granulomatosis
A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.
intravascular large B-cell lymphoma
A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.
primary diffuse large B-cell lymphoma of the central nervous system
A diffuse large B-cell lymphoma arising from the central nervous system.
extraventricular neurocytoma
A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles.
cerebral ventricle cancer
A cerebrum cancer that is located_in the cerebral ventricles.
Intraventricular tumor of brain
cerebral ventricle neoplasm
central nervous system tumor with BCOR internal tandem duplication
A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.
CNS tumour with BCOR internal tandem duplication
primary intracranial sarcoma, DICER1-mutant
A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.
brain sarcoma
A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm.
sarcoma of the brain
multiple synostoses syndrome 1
A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
multiple synostoses syndrome 2
A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
multiple synostoses syndrome 3
A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12.
multiple synostoses syndrome 4
A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.
Autosomal dominant multiple pterygium syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.
Autosomal recessive multiple pterygium syndrome
breast implant illness
A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression.
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32.
NEDGTH
developmental and epileptic encephalopathy 94
A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.
oxoglutarate dehydrogenase deficiency
An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.
Oxoglutaric aciduria
alpha-ketoglutarate dehydrogenase deficiency
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24.
NEDAMSS
familial hyperinsulinemic hypoglycemia 8
A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23.
glycogen storage disease I
A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.
Glycogen storage disease 1
deficiency of glucose-6-phosphatase
glycogen storage disease type I
glycogenosis type I
von Gierke disease
von Gierke's disease
glycogen storage disease Ib
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.
glycogen storage disease Ic
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.
Wiedemann-Rautenstrauch syndrome
A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Neonatal progeroid syndrome
PROGEROID SYNDROME, NEONATAL
Nestor-Guillermo progeria syndrome
A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.
Progeria syndrome, childhood-onset, with osteolysis
Becker disease
A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
Thomsen disease
A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
Congenital myotonia, autosomal dominant form
Thomsen's disease
myofibrillar myopathy 11
A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11.
MFM11
congenital myopathy 2B
A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.
autosomal recessive congenital myopathy 2B
congenital myopathy 2C
A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).
autosomal dominant severe infantile congenital myopathy 2C
congenital myopathy 5
A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31.
Salih myopathy
congenital myopathy-5 with cardiomyopathy
congenital myopathy 8
A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe.
congenital myopathy 9A
A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.
congenital myopathy 9B
A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A.
ongenital proximal myopathy 9B with minicore lesions
congenital myopathy 10B
A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.
congenital myopathy 14
A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.
congenital myopathy 15
A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding.
congenital myopathy 16
A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs.
congenital myopathy 17
A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.
congenital myopathy 18
A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
congenital myopathy 19
A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.
congenital myopathy 20
A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.
congenital myopathy 21
A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.
congenital myopathy 21 with early respiratory failure
congenital myopathy 22A
A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.
classic congenital myopathy 22A
congenital myopathy 22B
A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.
spinal muscular atrophy, Jokela type
A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
isolated mitochondrial myopathy
A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
Autosomal dominant mitochondrial myopathy with exercise intolerance
epidermolytic hyperkeratosis 1
An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
epidermolytic hyperkeratosis
An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.
Bullous ichthyosiform erythroderma
Epidermolytic palmoplantar hyperkeratosis
epidermolytic ichthyosis
spastic quadriplegic cerebral palsy 2
A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele.
spastic quadriplegic cerebral palsy
A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking.
inherited congenital spastic quadriplegia
inherited congenital spastic tetraplegia
quadriplegic infantile cerebral palsy
spastic quadriplegia
tetraplegic infantile cerebral palsy
spastic quadriplegic cerebral palsy 3
A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.
CPSQ3
Pierpont syndrome
An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26.
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
distal myopathy with rimmed vacuoles
A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35.
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35.
Paget's disease of bone 2
A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21.
Paget disease of bone-2
Xref MGI. MESH:C538098 added from NeuroDevNet [WAK].
Paget's disease of bone
A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Paget disease of bone
Paget's bone disease
osseous Paget's disease
osteitis deformans
Familial Paget's disease of bone
Paget's disease of bone 3
A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35.
Paget disease of bone-3
Paget's disease of bone 4
A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972.
Paget disease of bone-4
Paget's disease of bone 5
A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24.
Familial osteoectasia
Hereditary hyperphosphatasia
Hyperostosis corticalis deformans juvenilis
Juvenile Paget disease
Paget disease of bone-5
Paget's disease of bone 6
A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21.
Paget disease of bone-6
lacrimoauriculodentodigital syndrome 2
A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.
Lacrimo-auriculo-dento-digital syndrome 2
lacrimoauriculodentodigital syndrome 3
A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.
Lacrimo-auriculo-dento-digital syndrome 3
disabling pansclerotic morphea
A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone.
disabling pansclerotic morphea of childhood
localized scleroderma
Morphea
Scleroderma, circumscribed or localised
Scleroderma, circumscribed or localized
circumscribed scleroderma
localised morphea
localised morphoea
localised scleroderma
localized morphea
nemaline myopathy 5B
A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset.
nemaline myopathy
A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.
Nemaline body disease
nemaline rod myopathy
rod body disease
rod myopathy
nemaline myopathy 5C
A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13.
obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy
A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.
autosomal recessive distal hereditary motor neuronopathy 8
An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.
SORDD
sorbitol dehydrogenase deficiency with peripheral neuropathy
amyotrophic lateral sclerosis type 24
An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33.
amyotrophic lateral sclerosis type 25
An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).
amyotrophic lateral sclerosis type 26
An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13.
juvenile amyotrophic lateral sclerosis type 27
An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
amyotrophic lateral sclerosis type 28
An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.
ataxia-oculomotor apraxia 4
An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
ataxia-telangiectasia-like disorder 1
An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.
ataxia-telangiectasia-like disorder 2
An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.
PCNA-related progressive neurodegenerative photosensitivity syndrome
TANGO2-related metabolic encephalopathy and arrythmias
A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.
TANGO2 deficiency
metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36.
primary progressive aphasia
A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language.
logopenic progressive aphasia
A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers.
Logopenic primary progressive aphasia
logopenic variant PPA
progressive non-fluent aphasia
A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech.
Agramatic variant of primary progressive aphasia
nonfluent agrammatic PPA
semantic dementia
A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
semantic variant PPA
semantic variant of primary progressive aphasia
corticobasal degeneration syndrome
A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities.
organophosphate-induced delayed polyneuropathy
An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.
organophosphate induced delayed polyneuropathy
inflammatory and toxic neuropathy
A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment.
Caroli syndrome
A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease.
Harel-Yoon syndrome
A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.
Ocular anomalies-axonal neuropathy-developmental delay syndrome
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33.
PHRINL syndrome
Vissers-Bodmer syndrome
A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.
holoprosencephaly 12
A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.
holoprosencephaly-12 with or without pancreatic agenesis
autosomal dominant distal hereditary motor neuronopathy 10
An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23.
autosomal dominant distal hereditary motor neuronopathy 11
An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
autosomal dominant distal hereditary motor neuronopathy 13
An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.
sarcoma with BCOR genetic alterations
A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.
BCOR-Rearranged Sarcoma
BCOR ITD sarcoma
A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
BCOR-CCNB3 sarcoma
A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
childhood sarcoma with BCOR genetic alterations
A sarcoma with BCOR genetic alterations that occurs during childhood.
round cell sarcoma with EWSR1-non-ETS fusion
A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.
Ewing-Like Sarcoma or Round Cell Sarcoma
Round Cell Sarcoma with EWSR1::non-ETS Fusion
childhood round cell sarcoma with EWSR1-non-ETS fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
round cell sarcoma with EWSR1-NFATC2 gene fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
round cell sarcoma with EWSR1-PATZ1 gene fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
round cell sarcoma with FUS-NFATC2 gene fusion
A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.
B-lymphoblastic leukemia with PAX5 p.P80R
A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.
B acute lymphoblastic leukemia with PAX5 P80R mutation
B-lymphoblastic leukaemia with PAX5 p.P80R
B-lymphoblastic leukemia with PAX5 P80R
B-lymphoblastic leukemia with DUX4 rearrangement
A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.
B acute lymphoblastic leukemia with DUX4 rearrangement
B-lymphoblastic leukaemia with DUX4 rearrangement
renal cell carcinoma with MiT translocations
A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors.
MiT Family Translocation-Associated Renal Cell Carcinoma
MiT family translocation renal cell carcinoma
TFEB-rearranged renal cell carcinoma
A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.
Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB
Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB
t(6;11) Renal Cell Carcinoma
t(6;11);(p21;q12) Renal Cell Carcinoma
TFE3-rearranged renal cell carcinoma
A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene.
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Xp11 Translocation Renal Cell Carcinoma
childhood renal cell carcinoma with MiT translocations
A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.
poorly differentiated chordoma
A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.
chordoma
A notochordal cancer that derives_from cellular remnants of the notochord.
notochordoma
anaplastic sarcoma of the kidney
A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.
kidney sarcoma
A kidney cancer that is located in the kidney's connective tissue.
renal sarcoma
sarcoma of kidney
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later.
DYSTONIA 29, CHILDHOOD-ONSET
DYTOABG
MECR-related neurologic disorder
MEPAN syndrome
Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
familial focal epilepsy with variable foci
A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members.
DEPDC5-related epilepsy
focal epilepsy
An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
localisation-related epilepsy
partial epilepsy
familial focal epilepsy with variable foci 1
A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12.
familial focal epilepsy with variable foci 2
A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21.
familial focal epilepsy with variable foci 3
A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13.
familial focal epilepsy with variable foci 4
A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
autosomal recessive distal hereditary motor neuronopathy 6
An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11.
autosomal recessive distal hereditary motor neuronopathy
A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance.
autosomal recessive distal spinal muscular atrophy
autosomal recessive distal hereditary motor neuronopathy 7
An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36.
autosomal recessive distal hereditary motor neuronopathy 9
An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12.
autosomal recessive distal hereditary motor neuronopathy 10
An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32.
intellectual developmental disorder with autistic features and language delay, with or without seizures
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23.
IDDALDS
microcephaly, short stature, and limb abnormalities
An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death.
DONSON-related microcephaly-short stature-limb abnormalities spectrum
microcephaly-micromelia syndrome
A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder.
Peroxisome biogenesis disorder 4B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR.
SCABD1
spinocerebellar ataxia with blindness and deafness 1
Peroxisome biogenesis disorder 5B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21.
Peroxisome biogenesis disorder 6B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36.
Peroxisome biogenesis disorder 7B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21.
Peroxisome biogenesis disorder 8B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.
Peroxisome biogenesis disorder 9B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.
Peroxisome biogenesis disorder 11B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
Peroxisome biogenesis disorder 10B
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24.
Nicolaides-Baraitser syndrome
A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
Intellectual disability-sparse hair-brachydactyly syndrome
SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
blepharophimosis-impaired intellectual development syndrome
A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
SMARCA2-related blepharophimosis-intellectual disability syndrome
Stolerman neurodevelopmental syndrome
A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13.
neurodevelopmental disorder with poor growth and behavioral abnormalities
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13.
sickle cell disease
A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia).
blood protein disease
blood protein disorder
dimethylglycine dehydrogenase deficiency
An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14.
DMG dehydrogenase deficiency
cone-rod dystrophy 21
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13.
cone-rod dystrophy 22
A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11.
cone-rod dystrophy 24
A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.
hyperimmunoglobulinemia D periodic fever syndrome
A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24.
HYPER-IgD SYNDROME
PFAPA syndrome
An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
Marshall syndrome with periodic fever
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
Dent disease 1
A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent.
Dent disease 2
A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26.
auto-brewery syndrome
An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication.
auto brewery syndrome
gut fermentation syndrome
bladder fermentation syndrome
An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication.
urinary auto-brewery syndrome
intrathyroid thymic carcinoma
A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.
CASTLE
Carcinoma showing thymus-like differentiation
Carcinoma showing thymus-like element
Intrathyroid thymic carcinoma
Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation
thyroid gland cribriform morular carcinoma
A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation.
CMTC
Cribriform Morular Thyroid Gland Carcinoma
Cribriform-Morular Variant Thyroid Gland Papillary Cancer
Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma
thyroid gland mixed medullary and follicular cell-derived carcinoma
A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.
mixed medullary and follicular cell-derived carcinomas
thyroid gland mucinous carcinoma
A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.
thyroid gland spindle epithelial tumor with thymus-like elements
A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells.
SETTLE
Spindle Epithelial Tumor with Thymus-Like Elements
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
Zeitz-Han retinal dystrophy
A retinal degeneration that is characterized by a variable retinal phenotypes, predominantly described as rod-cone dystrophy with some patients clinically diagnosed as having retinitis pigmentosa, but also including cases of cone-rod and cone dystrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the ubiquitin-associated protein (UBAP1L) gene on chromosome 15q22.
recurrent respiratory papillomatosis
A respiratory system benign neoplasm that is characterized by recurrent wart-like growths on the surface of the larynx, trachea, or lungs, commonly caused by human papillomavirus types 6 and 11.
Human papillomavirus infectious disease
A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
HPV
papilloma
A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
papillomatosis
Fraser syndrome
A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.
cryptophthalmos with other malformations
Tietz syndrome
A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
Tietz albinism-deafness syndrome
albinism-deafness of Tietz
hypopigmentation/deafness of Tietz
agenesis of the corpus callosum with peripheral neuropathy
A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.
Andermann syndrome
Charlevoix disease
corpus callosum agenesis-neuronopathy syndrome
progressive pseudorheumatoid arthropathy of childhood
A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.
spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Schwartz-Jampel syndrome 1
A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Catel-Hempel type dysostosis enchondralis metaepiphysaria
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
myotonic chondrodystrophy
myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
osteochondromuscular dystrophy
renal coloboma syndrome
A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.
CAKUT with or without ocular abnormalities
coloboma of optic nerve with renal disease
congenital anomalies of the kidney and urinary tract with or without ocular abnormalities
optic coloboma, vesicoureteral reflux and renal anomalies
papillo-renal syndrome, optic nerve coloboma with renal disease
papillorenal syndrome
renal-coloboma syndrome with macular abnormalities
immunodeficiency-centromeric instability-facial anomalies syndrome
A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.
ICF syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome 1
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.
ICF syndrome 1
immunodeficiency-centromeric instability-facial anomalies syndrome 2
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21.
ICF syndrome 2
immunodeficiency-centromeric instability-facial anomalies syndrome 3
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31.
ICF syndrome 3
immunodeficiency-centromeric instability-facial anomalies syndrome 4
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23.
ICF syndrome 4
severe combined immunodeficiency with sensitivity to ionizing radiation
A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.
SCID due to DCLRE1C deficiency
SCID due to artemis deficiency
SCID, Athabascan type
SCID, Athabaskan type
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to artemis deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
artemis deficiency
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12.
SCID due to complete RAG1-2 deficiency
Severe combined immunodeficiency due to complete RAG1-2 deficiency
autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
Cenani-Lenz syndactyly syndrome
A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
syndactyly type 7
chromosome 5q deletion syndrome
A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.
5q- syndrome, refractory macrocytic anemia due to 5q deletion
myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
epidermolysis bullosa simplex with muscular dystrophy
An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
epidermolysis bullosa simplex and limb-girdle muscular dystrophy
limb-girdle muscular dystrophy with epidermolysis bullosa simplex
nomenclature change.
TNF receptor–associated periodic syndrome
An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.
FHF
FPF
TRAPS
autosomal dominant familial periodic fever
familial Hibernian fever
hibernian fever
tumor necrosis factor receptor associated periodic syndrome
split hand-foot malformation
A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
lobster-claw deformity
split-hand deformity
split hand-foot malformation 1
A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.
SHFD1
SHFM1
split hand-foot malformation 5
A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.
SHFM5
split hand-foot malformation 4
A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
SHFM4
split hand-foot malformation 1 with sensorineural hearing loss
A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.
SHFM1D
congenital deafness with split hands and feet
split hand-foot malformation 3
A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
SHFM3
chromosome 10q24 duplication syndrome
distal limb deficiencies with micrognathia
split hand-foot malformation 6
A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
SHFM6
split hand-foot malformation 2
A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
SHFM2
familial isolated deficiency of vitamin E
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
ataxia with isolated vitamin E deficiency
familial isolated vitamin E deficiency
CINCA Syndrome
An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.
IOMID syndrome
NOMID syndrome
Prieur-Griscelli syndrome
chronic infantile neurological cutaneous articular syndrome
chronic neurologic cutaneous and articular syndrome
cryopyrin-associated periodic syndrome 3
infantile-onset multisystem inflammatory disease
neonatal-onset multisystem inflammatory disease
corticosteroid-binding globulin deficiency
An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.
CBG deficiency
transcortin deficiency
D-bifunctional protein deficiency
A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
Silverman-Handmaker type dyssegmental dysplasia
An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.
myoclonic dystonia
A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.
myoclonic dystonia 11
A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
myoclonic dystonia 15
A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11.
myoclonic dystonia 26
A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.
torsion dystonia 13
A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13.
torsion dystonia 2
A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.
torsion dystonia 6
A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.
torsion dystonia 7
A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p.
torsion dystonia 4
A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.
torsion dystonia 17
A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12.
dystonia 9
A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
paroxysmal choreoathetosis with spasticity
glucose transporter type 1 deficiency syndrome 2
A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
PED
paroxysmal exercise-induced dyskinesia
paroxysmal exertion-induced dyskinesia
DYT18
GLUT1 deficiency syndrome 2
GLUT1DS2
childhood-onset GLUT1 deficiency syndrome 2
dystonia 18
dystonia 21
A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.
paroxysmal nonkinesigenic dyskinesia 2
A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31.
dystonia 16
A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.
paroxysmal nonkinesigenic dyskinesia 1
A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.
dystonia 27
A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.
dystonia 23
A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.
dystonia 24
A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.
episodic kinesigenic dyskinesia 1
A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
Paroxysmal kinesigenic choreoathetosis
episodic kinesigenic dyskinesia 2
A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1.
dystonia 25
A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.
dystonia 12
A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.
X-linked dystonia-parkinsonism
A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.
torsion dystonia with onset in infancy
A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.
Wolcott-Rallison syndrome
A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.
familial cold autoinflammatory syndrome
An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
FCAS
familial cold autoinflammatory syndrome 1
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.
FCAS1
familial cold autoinflammatory syndrome 2
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.
FCAS2
NLRP12-associated hereditary periodic fever syndrome
familial cold autoinflammatory syndrome 3
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.
FACU
FCAS3
PLAID
PLCG2-associated antibody deficiency and immune dysregulation
familial atypical cold urticaria
phospholipase C gamma 2-associated antibody deficiency and immune dysregulation
familial cold autoinflammatory syndrome 4
A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.
FCAS4
Fanconi-like syndrome
A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.
Fuhrmann syndrome
A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.
giant axonal neuropathy 1
An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.
axonal neuropathy
giant axonal neuropathy 2
An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.
hypogonadotropic hypogonadism
A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.
congenital idiopathic hypogonadotropic hypogonadism
hypogonadotropism
isolated congenital gonadotropin deficiency
hypogonadism
A gonadal disease that is characterized by diminished functional activity of the gonads.
hypogonadotropic hypogonadism 11 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24.
hypogonadotropic hypogonadism 12 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21.
familial hypogonadotrophic eunuchoidism
familial idiopathic gonadotrpin deficiency
hypogonadotropic hypogonadism 13 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32.
hypogonadotropic hypogonadism 8 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.
hypogonadotropic hypogonadism 15 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 18 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.
hypogonadotropic hypogonadism 4 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 7 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
hypogonadotropic hypogonadism 17 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 16 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 22 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31.
hypogonadotropic hypogonadism 20 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 2 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.
hypogonadotropic hypogonadism 5 with or without anosmia
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12.
hypogonadotropic hypogonadism 9 with or without anosmia
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 6 with or without anosmia
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 14 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26.
hypogonadotropic hypogonadism 24 without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.
isolated follicle-stimulating hormone deficiency
hypogonadotropic hypogonadism 10 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13.
hypogonadotropic hypogonadism 19 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 23 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
46,XY DSD due to LHB deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Pasqualini syndrome
fertile eunuch syndrome
leydig cell hypoplasia due to LHB deficiency
hypogonadotropic hypogonadism 3 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene.
hypogonadotropic hypogonadism 21 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes.
hypogonadotropic hypogonadism 1 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.
dysplasia olfactogenitalis of de morsier
ocular albinism with sensorineural deafness
An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
WS2-OA
autosomal recessive Waardenburg syndrome type 2 with ocular albinism
digenic Waardenburg syndrome/albinism
digenic Waardenburg syndrome/ocular albinism
lethal congenital glycogen storage disease of heart
A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
fatal congenital hypertrophic cardiomyopathy due to GSD
fatal congenital hypertrophic cardiomyopathy due to glycogenosis
fatal congenital nonlysosomal cardiac glycogenosis
phosphorylase kinase deficiency of heart
autosomal dominant isolated macrothrombocytopenia 1
A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.
MACTHC1
Huntington's disease-like 1
A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.
HDL1
HLN1
Huntington disease-like 1
Huntington-like neurodegenerative disorder 1
autosomal dominant Huntington-like neurodegenerative disorder
early-onset prion disease with prominent psychiatric features
Huntington's disease-like 2
A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
HDL2
Huntington disease-like 2
dementia
A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
autosomal recessive hypercholesterolemia
A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.
ARH
ARH1
ARH2
FHCB1
FHCB2
autosomal recessive hypercholesterolemia 1
autosomal recessive hypercholesterolemia 2
familial autosomal recessive hypercholesterolemia
familial hypercholesterolemia
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Fredrickson type IIa hyperlipoproteinemia
Fredrickson type IIa lipidaemia
familial hyperbetalipoproteinaemia
familial hypercholesteremia
hyperbetalipoproteinemia
type II hyperlipidemia
BH4-deficient hyperphenylalaninemia A
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
6-pyruvoyl-tetrahydropterin synthase deficiency
HPABH4A
PTS deficiency
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
autosomal dominant hypocalcemia 1
An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
HYPOC1
autosomal dominant hypocalcemia
A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.
HYPOC
autosomal dominant hypocalcemia 2
An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.
HYPOC2
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
Autoimmune enteropathy type 1
DMSD
IDDM-secretory diarrhea syndrome
IPEX
X-linked autoimmunity-allergic dysregulation syndrome
XLAAD
XPID
autoimmunity-immunodeficiency syndrome, X-linked
diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
PCWH syndrome
A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13.
Neurologic Waardenburg-Shah syndrome
PCWH
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Nasu-Hakola disease
A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.
NHD
PLO-SL
PLOSL
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
presenile dementia with bone cysts
progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
RIDDLE syndrome
A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Sorsby's fundus dystrophy
A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.
SFD
hemorrhagic macular dystrophy
pseudoinflammatory fundus dystrophy of Sorsby
hereditary retinal dystrophy
spinocerebellar ataxia with axonal neuropathy 1
A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.
SCAN1
autosomal recessive spinocerebellar ataxia with axonal neuropathy 1
spinocerebellar ataxia with axonal neuropathy type 1
spondylocarpotarsal synostosis syndrome
A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.
SCT
congenital scoliosis with unilateral unsegmented bar
congenital synspondylism
spondylocarpotarsal syndrome
spondylocarpotarsal synostosis
vertebral fusion with carpal coalition
thiamine-responsive megaloblastic anemia syndrome
A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.
Rogers syndrome
THMD1
TRMA
thiamine metabolism dysfunction syndrome 1
thiamine-responsive anaemia syndrome
thiamine-responsive anemia syndrome
thiamine-responsive megaloblastic anaemia syndrome
thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
thiamine-responsive myelodysplasia
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.
AEC syndrome
Hay-Wells syndrome
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
hereditary neutrophilia
A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.
leukocyte disease
A hematopoietic system disease that is located_in white blood cells.
obsolete apparent mineralocorticoid excess
An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
Ulick syndrome
aromatase excess syndrome
A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.
AEXS
familial hyperestrogenism
hereditary prepubertal gynecomastia
increased aromatase activity
aromatic L-amino acid decarboxylase deficiency
An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
AADC deficiency
neurogenic-type arthrogryposis multiplex congenita-2
An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.
AMC neurogenic type
AMC2
AMCN
arthrogryposis multiplex congenita 2, neurogenic type
arthrogryposis multiplex congenita neurogenic type
brain small vessel disease 1
A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.
BSVD1
COL4A1-related brain small vessel disease with hemorrhage
COL4A1-related familial vascular leukoencephalopathy
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy
brain small vessel disease with Axenfeld-Riegar anomaly
brain small vessel disease with hemorrhage
brain small vessel disease with or without ocular anomalies
infantile hemiparesis
leukoencephalopathy with Axenfeld-Riegar anomaly
branched-chain keto acid dehydrogenase kinase deficiency
An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.
BCKDK deficiency
BCKDKD
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31.
CACP
CACP syndrome
CAP syndrome
Jacobs syndrome
PAC syndrome
arthropathy-camptodactyly syndrome
camptodactyly-arthropathy-pericarditis syndrome
congenital familial hypertrophic synovitis
familial fibrosing serositis
pericarditis-arthropathy-camptodactyly syndrome
Carvajal syndrome
A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.
DCWHK
dilated cardiomyopathy with woolly hair and keratoderma
palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
carnitine palmitoyltransferase I deficiency
A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.
CPT I deficiency
CPT1A deficiency
L-CPT1 deficiency
carnitine palmitoyl transferase 1A deficiency
carnitine palmitoyl transferase IA deficiency
hepatic CPT deficiency type I
hepatic carnitine palmitoyl transferase 1 deficiency
hepatic carnitine palmitoyl transferase I deficiency
cortical dysplasia-focal epilepsy syndrome
A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.
CDFE syndrome
CDFES
PTHSL1
Pitt-Hopkins-like syndrome-1
complex cortical dysplasia with other brain malformations 7
A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.
CDCBM7
polymicrogyria due to TUBB2B mutation
complex cortical dysplasia with other brain malformations 2
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.
CDCBM2
complex cortical dysplasia with other brain malformations 3
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.
CDCBM3
complex cortical dysplasia with other brain malformations 5
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25.
CDCBM5
complex cortical dysplasia with other brain malformations 6
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21.
CDCBM56
complex cortical dysplasia with other brain malformations 1
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.
CDCBM1
cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
complex cortical dysplasia with other brain malformations 4
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21.
CDCBM4
cortisone reductase deficiency
An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.
CORTRD
cortisone reductase deficiency 2
A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
CORTRD2
cortisone reductase deficiency 1
A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.
CORTRD1
cystathioninuria
An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
cystathionase deficiency
cystathione gamma-lyase deficiency syndrome
gamma-cystathionase deficiency
brachyolmia-amelogenesis imperfecta syndrome
A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.
DASS
STHAG6
dental anomalies and short stature
platyspondyly with amelogenesis imperfecta
selective tooth agenesis 5
Donnai-Barrow syndrome
A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
DBS/FOAR syndrome
FOAR syndrome
Holmes-Schepens syndrome
diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
diaphragmatic hernia-exomphalos-hypertelorism syndrome
diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
facio-oculo-acoustico-renal syndrome
faciooculoacousticorenal syndrome
syndrome of ocular and facial anomalies, telecanthus and deafness
dopamine beta-hydroxylase deficiency
An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.
congenital dopamine beta-hydroxylase deficiency
noradrenaline deficiency
norepinephrine deficiency
3-methylglutaconic aciduria type 5
A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26.
3-methylglutaconic aciduria type V
DCMA
DCMA syndrome
MGA5
MGCA5
dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.
3-methylglutaconic aciduria type 6
MEGDEL
MEGDEL syndrome
MGCA6
3-methylglutaconic aciduria type 1
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.
3-methylglutaconic aciduria type I
3-methylglutaconyl-CoA hydratase deficiency
3MG-CoA hydratase deficiency
MGA type I
MGA1
3-methylglutaconic aciduria type 3
A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
3-methylglutaconic aciduria type III
Costeff optic atrophy syndrome
Costeff syndrome
Iraqi-Jewish optic atrophy plus
MGA3
autosomal recessive optic atrophy plus syndrome
autosomal recessive optic atrophy type 3
infantile optic atrophy with chorea and spastic paraplegia
Leber congenital amaurosis 9
A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36.
LCA9
3-methylglutaconic aciduria type 4
A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.
3-methylglutaconic aciduria type IV
MGA type IV
MGA4
MGCA4
achromatopsia 2
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.
ACHM2
RMCH2
rod monochromacy 2
rod monochromatism 2
achromatopsia 3
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.
ACHM1
ACHM3
Pingelapese blindness
RMCH1
rod monochromacy 1
rod monochromatism 1
achromatopsia 7
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.
ACHM7
achromatopsia 4
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.
ACHM4
advanced sleep phase syndrome 1
An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37.
FASPS1
familial advanced sleep phase syndrome 1
advanced sleep phase syndrome 2
An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25.
FASPS2
familial advanced sleep phase syndrome 2
advanced sleep phase syndrome 3
An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23.
FASPS3
familial advanced sleep phase syndrome 3
age related macular degeneration 1
An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.
ARMD1
age related maculopathy 1
age related macular degeneration 2
An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.
ARMD2
Leber congenital amaurosis 2
A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.
LCA2
amaurosis congenita of Leber II
age related macular degeneration 4
An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.
ARMD4
age related macular degeneration 6
An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.
ARMD6
age related macular degeneration 7
An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.
ARMD7
age related macular degeneration 8
An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26.
ARMD8
age related macular degeneration 9
An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.
ARMD9
age related macular degeneration 10
An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.
ARMD10
age related macular degeneration 11
An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.
ARMD11
age related macular degeneration 12
An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.
ARMD12
age related macular degeneration 13
An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.
ARMD13
age related macular degeneration 14
An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.
ARMD14
age related macular degeneration 15
An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.
ARMD15
age related macular degeneration 5
An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.
ARMD5
alpha thalassemia-intellectual disability syndrome type 1
An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
alpha thalassemia-intellectual disability syndrome, deletion type
alpha thalassemia-retardation syndrome
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
alpha-thalassemia/mental retardation syndrome, deletion-type
alpha-thalassemia/mental retardation syndrome, type 1
alpha thalassemia
A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
Alpha thalassaemia
alpha-Thalassemia
alpha thalassemia-X-linked intellectual disability syndrome
An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
ATR, nondeletion type
ATR-X syndrome
alpha-thalassemia/mental retardation syndrome nondeletion type
hemoglobin H disease
An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.
HBH
alpha thalassemia, haemoglobin H type
alpha thalassemia, hemoglobin H type
alpha-thalassemia intermedia
haemoglobin H disease
haemoglobin H disease, deletional
hemoglobin H disease, deletional
Alport syndrome 3A
An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.
autosomal dominant Alport syndrome 3A
Alport syndrome 2
An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
autosomal recessive Alport syndrome
X-linked Alport syndrome
An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).
nephropathy and deafness, X-linked
Alzheimer's disease 2
An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.
AD2
Alzheimer disease 2, late onset
Alzheimer disease associated with APOE4
Alzheimer disease-2
Alzheimer's disease 16
An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.
AD16
Alzheimer's disease 16, late onset
Alzheimer's disease 5
An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12.
AD5
Alzheimer disease 5
Alzheimer disease, familial 5
Alzheimer's disease 5, late onset
Alzheimer's disease 6
An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.
AD6
Alzheimer disease 6
Alzheimer disease 6, late onset
Alzheimer's disease 7
An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.
AD7
Alzheimer disease 7
Alzheimer disease, familial 7
Alzheimer's disease 4
An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.
AD4
Alzheimer disease 4
Alzheimer disease, familial4
Alzheimer's disease 4, early onset
Alzheimer's disease 8
An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.
AD8
Alzheimer disease 8
Alzheimer disease, familial 8
Alzheimer's disease 8, late onset
Alzheimer's disease 3
An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.
AD3
Alzheimer disease 3
Alzheimer disease 3, early onset
Alzheimer disease familial 3
Alzheimer's disease 10
An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.
AD10
Alzheimer disease 10
Alzheimer disease familial 10
Alzheimer's disease 10, early onset
Alzheimer's disease 11
An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.
AD11
Alzheimer disease 11
Alzheimer's disease 11, late onset
Alzheimer's disease 12
An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.
AD12
Alzheimer disease 12
Alzheimer disease familial 12
Alzheimer's disease 13
An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.
AD13
Alzheimer disease 13
Alzheimer's disease 13, late onset
Alzheimer's disease 14
An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.
AD14
Alzheimer disease 14
Alzheimer's disease 14, late onset
Alzheimer's disease 15
An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.
AD15
Alzheimer disease 15
Alzheimer's disease 15, late onset
Alzheimer's disease 17
An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.
AD17
Alzheimer disease 17
Alzheimer disease 17, late onset
Alzheimer's disease 18
An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.
AD18
Alzheimer disease 18
Alzheimer's disease 18, late onset
Alzheimer's disease 19
An Alzheimer's disease that is characterized by associated variants of the gene PLD3.
AD19
Alzheimer disease 19
Alzheimer disease 19 late onset
amelogenesis imperfecta type 1B
An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
AI1B
AIH2
amelogenesis imperfecta type IB
autosomal dominant hypoplastic local amelogenesis imperfecta
hereditary localized enamel hypoplasia
amelogenesis imperfecta type 4
An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene.
AI4
AIHHT
amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism
amelogenesis imperfecta type 1A
An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.
AI1A
amelogenesis imperfecta hypoplastic type IA
amelogenesis imperfecta type IA
amelogenesis imperfecta type 3A
An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
ADHCAI
amelogenesis imperfecta hypomineralization type
amelogenesis imperfecta type III
autosomal dominant amelogenesis imperfecta hypocalcification type
amelogenesis imperfecta type 1C
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
AI1C
amelogenesis imperfecta type IC
autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion
autosomal recessive amelogenesis imperfecta local hypoplastic type
amelogenesis imperfecta type 2A1
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.
AI2A1
amelogenesis imperfecta pigmented hypomaturation type 1
amelogenesis imperfecta type IIA1
amelogenesis imperfecta type 1E
An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).
AIH1
X-linked amelogenesis imperfecta 1
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1
amelogenesis imperfecta hypomaturationtype with snow-capped teeth
amelogenesis imperfecta type IE
X-linked enamel hypoplasia
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
AIH3
amelogenesis imperfecta 3 hypoplastic type
amelogenesis imperfecta type IE X-linked 2
amelogenesis imperfecta hypomaturation type 2A2
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).
AI2A2
amelogenesis imperfecta hypomaturation type IIA2
amelogenesis imperfecta pigmented hypomaturation type 2
amelogenesis imperfecta type IIA2
amelogenesis imperfecta hypomaturation type 2A3
An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.
AI2A3
amelogenesis imperfecta hypomaturation type IIA3
amelogenesis imperfecta type IIA3
amelogenesis imperfecta hypomaturation type 2A4
An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.
AI2A4
amelogenesis imperfecta hypomaturation type IIA4
amelogenesis imperfecta type IIA4
amelogenesis imperfecta hypomaturation type 2A5
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.
AI2A5
amelogenesis imperfecta hypomaturation type IIA5
amelogenesis imperfecta type IIA5
amelogenesis imperfecta type 1H
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.
AI1H
amelogenesis imperfecta type IH
amelogenesis imperfecta type 1F
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.
AI1F
amelogenesis imperfecta hypoplastic type IF
amelogenesis imperfecta type IF
amelogenesis imperfecta type 1G
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
AI1G
AIGFS
ERS
amelogenesis imperfecta and gingival fibromatosis syndrome
amelogenesis imperfecta hypoplastic with nephrocalcinosis
amelogenesis imperfecta type IG
enamel-renal syndrome
enamel-renal-gingival syndrome
juvenile amyotrophic lateral sclerosis with dementia
A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.
ALS-dementia complex
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35.
FTDALS3
frontotemporal dementia and/or amyotrophic lateral sclerosis 4
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14.
FTDALS4
arrhythmogenic right ventricular dysplasia 1
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
ARVC1
Uhl anomaly
arrhythmogenic right ventricular cardiomyopathy 1
obsolete arrhythmogenic right ventricular dysplasia 2
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.
ARVC2
ARVD2
arrhythmogenic right ventricular cardiomyopathy 2
familial arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 3
An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.
ARVC3
ARVD3
arrhythmogenic right ventricular cardiomyopathy 3
familial arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
ARVC4
ARVD4
arrhythmogenic right ventricular cardiomyopathy 4
familial arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.
ARVC5
ARVD5
arrhythmogenic right ventricular cardiomyopathy 5
familial arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 6
An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.
ARVC6
ARVD6
arrhythmogenic right ventricular cardiomyopathy 6
familial arrhythmogenic right ventricular dysplasia 6
arrhythmogenic right ventricular dysplasia 8
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.
ARVC8
ARVD8
arrhythmogenic right ventricular cardiomyopathy 8
familial arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.
ARVC9
ARVD9
arrhythmogenic right ventricular cardiomyopathy 9
familial arrhythmogenic right ventricular dysplasia 9
Leber congenital amaurosis 1
A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.
LCA1
amaurosis congenita of Leber I
Leber congenital amaurosis 8
A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.
LCA8
Leber congenital amaurosis 12
A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32.
LCA12
arrhythmogenic right ventricular dysplasia 10
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.
ARVC10
ARVD10
arrhythmogenic right ventricular cardiomyopathy 10
familial arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q.
ARVC11
ARVD11
arrhythmogenic right ventricular cardiomyopathy 11
familial arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.
ARVC12
ARVD12
arrhythmogenic right ventricular cardiomyopathy 12
familial arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21.
ARVC13
ARVD13
arrhythmogenic right ventricular cardiomyopathy 13
familial arrhythmogenic right ventricular dysplasia 13
asphyxiating thoracic dystrophy 1
An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
ATD1
SRTD1
short-rib thoracic dysplasia 1 with or without polydactyly
asphyxiating thoracic dystrophy 2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
ATD2
SRTD2
short-rib thoracic dysplasia 2 with or without polydactyly
asphyxiating thoracic dystrophy 4
An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
ATD4
SRTD4
short-rib thoracic dysplasia 4 with or without polydactyly
asphyxiating thoracic dystrophy 5
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
ATD5
SRTD5
short-rib thoracic dysplasia 5 with or without polydactyly
short-rib thoracic dysplasia 7 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
SRPS5
SRTD7
short rib-polydactyly syndrome type V
short-rib thoracic dysplasia 10 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
SRTD10
short-rib thoracic dysplasia 6 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
Majewski syndrome
SRPS2A
SRTD6
polydactyly with neonatal chondrodystrophy, type II
short rib-polydactyly syndrome type IIA
short-rib thoracic dysplasia 13 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
SRTD13
short-rib thoracic dysplasia 8 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
SRPS6
SRTD8
short rib-polydactyly syndrome type VI
short-rib thoracic dysplasia 11 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
SRTD11
short-rib thoracic dysplasia 14 with polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
SRTD14
short-rib thoracic dysplasia 9 with or without polydactyly
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
SRTD9
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
atopic dermatitis 2
An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21.
ATOD2
atopic dermatitis
An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
Atopic neurodermatitis
Besnier's prurigo
allergic dermatitis
atopic eczema
atopic dermatitis 3
An atopic dermatitis associated with variation in the region 20p.
ATOD3
atopic dermatitis with asthma
atopic dermatitis 4
An atopic dermatitis associated with variation in the region 17q25.3.
ATOD4
atopic dermatitis 5
An atopic dermatitis associated with variation in the region 13q12-q14.
ATOD5
atopic dermatitis 6
An atopic dermatitis associated with variation in the region 5q31-q33.
ATOD6
atopic dermatitis 7
An atopic dermatitis associated with variation in the region 11q13.5.
ATOD7
atopic dermatitis 8
An atopic dermatitis associated with variation in the region 4q22.1.
ATOD8
atopic dermatitis 9
An atopic dermatitis associated with variation in the region 3p24.
ATOD9
atrial heart septal defect 1
An atrial heart septal defect type 1 associated with variation in the region 5p.
ASD1
atrial septal defect 1
atrial heart septal defect
A heart septal defect located_in in the septum that separates the two atria of the heart.
atrial septal defect
atrioseptal defect
auricular septal defect
congenital atrial septal defect
interatrial septal defect
interauricular septal defect
atrial heart septal defect 2
An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23.
ASD2
atrial septal defect 2
atrial heart septal defect 3
An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.
ASD3
atrial septal defect 3
atrial heart septal defect 4
An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene.
ASD4
atrial septal defect 4
atrial heart septal defect 5
An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
ASD5
atrial septal defect 5
atrial heart septal defect 6
An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32.
ASD6
atrial septal defect 6
atrial heart septal defect 7
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
ASD with or without atrioventricular conduction defects
atrial septal defect 7, with or without AV conduction defects
atrial septal defect-atrioventricular conduction defects syndrome
atrial heart septal defect 8
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3.
ASD8
atrial septal defect 8
atrial heart septal defect 9
An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11.
ASD9
atrial septal defect 9
autoimmune lymphoproliferative syndrome type 2A
An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene.
ALPS2A
autoimmune lymphoproliferative syndrome type IIA
autoimmune lymphoproliferative syndrome
A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
ALPS
Canale-Smith syndrome
autoimmune lymphoproliferative syndrome type 2B
An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.
ALPS with recurrent viral infections
ALPS2B
CEDS
Caspase 8 deficiency
Caspase 8 deficiency syndrome
Caspase eight deficiency state
autoimmune lymphoproliferative syndrome type IIB
autoimmune lymphoproliferative syndrome with recurrent viral infections
autoimmune lymphoproliferative syndrome type 4
An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.
ALPS type 4
ALPS type IV
ALPS4
RALD
RAS-associated autoimmune leukoproliferative disease
RAS-associated autoimmune leukoproliferative disorder
autoimmune lymphoproliferative syndrome type IV
Leber congenital amaurosis 16
A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.
LCA16
autoimmune lymphoproliferative syndrome type 3
An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.
ALPS3
autoimmune lymphoproliferative syndrome type III
Axenfeld-Rieger syndrome type 1
An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
RIEG1
Rieger syndrome type 1
Axenfeld-Rieger syndrome
An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.
Anomaly, Rieger's
Axenfeld syndrome
RGS - Rieger syndrome
Rieger's anomaly
Hagedoom syndrome
Axenfeld-Rieger syndrome type 2
An Axenfeld-Rieger syndrome characterized by bnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in deletions in the region 13q14.
RIEG2
Rieger syndrome type 2
Axenfeld-Rieger syndrome type 3
An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
RIEG3
Rieger syndrome type 3
anterior chamber cleavage syndrome
anterior segment mesenchymal dysgenesis
Bardet-Biedl syndrome 1
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.
BBS1
Bardet-Biedl syndrome 2
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.
BBS2
Bardet-Biedl syndrome 3
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11.
BBS3
Bardet-Biedl syndrome 4
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.
BBS4
Bardet-Biedl syndrome 5
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31.
BBS5
Bardet-Biedl syndrome 6
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.
BBS6
Bardet-Biedl syndrome 7
A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.
BBS7
Bardet-Biedl syndrome 8
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31.
BBS8
Bardet-Biedl syndrome 9
A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.
BBS9
Bardet-Biedl syndrome 10
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.
BBS10
Bardet-Biedl syndrome 11
A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33.
BBS11
Bardet-Biedl syndrome 12
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.
BBS12
Bardet-Biedl syndrome 13
A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.
BBS13
Bardet-Biedl syndrome 14
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
BBS14
Bardet-Biedl syndrome 15
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15.
BBS15
Bardet-Biedl syndrome 16
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.
BBS16
Bardet-Biedl syndrome 17
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.
BBS17
Bardet-Biedl syndrome 18
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25.
BBS18
Bardet-Biedl syndrome 19
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.
BBS19
Bartter disease type 1
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.
BARTS1
Bartter syndrome type 1
Bartter syndrome type 1 antenatal
hyperprostaglandin E syndrome 1
hypokalemic alkalosis with hypercalciuria 1 antenatal
Bartter disease
Aldosteronism with hyperplasia of the adrenal cortex
Bartter's syndrome
Bartter disease type 2
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.
BARTS2
Bartter syndrome type 2
Bartter syndrome type 2 antenatal
hyperprostaglandin E syndrome 2
hypokalemic alkalosis with hypercalciuria 2 antenatal
Bartter disease type 3
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.
BARTS3
Bartter syndrome type 3
classic Bartter syndrome
Bartter disease type 4a
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.
BARTS4A
BSND
Bartter syndrome type 4a
neonatal Bartter syndrome with sensorineural deafness
Bartter disease type 4b
A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.
BARTS4B
Bartter syndrome, type 4b, digenic
neonatal Bartter syndrome type 4B with sensorineural deafness
Bartter disease type 5
A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11.
BARTS5
Bartter syndrome, type 5, antenatal, transient
Charcot-Marie-Tooth disease type 1A
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
CMT1A
Charcot-Marie-Tooth neuropathy type 1A
HMSN1A
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
hereditary motor and sensory neuropathy 1A
microduplication 17p12
Charcot-Marie-Tooth disease type 1F
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.
CMT1F
Charcot-Marie-Tooth neuropathy type 1F
Charcot-Marie-Tooth disease type 1D
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
CMT1D
Charcot-Marie-Tooth neuropathy type 1D
HMSN ID
HMSN1D
hereditary motor and sensory neuropathy 1D
Charcot-Marie-Tooth disease type 1C
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13.
CMT slow nerve conduction type C
CMT1C
Charcot-Marie-Tooth neuropathy type 1C
HMSN IC
HMSN1C
neuropathy hereditary motor and sensory type 1C
Charcot-Marie-Tooth disease type 1B
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
CMT1B
Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
Charcot-Marie-Tooth neuropathy type 1B
HMSN IB
HMSN1B
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
hereditary motor and sensory neuropathy IB
peroneal muscular atrophy
Charcot-Marie-Tooth disease type 1E
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).
CMT1E
Charcot-Marie-Tooth disease and deafness
Charcot-Marie-Tooth disease demyelinating type 1E
Charcot-Marie-Tooth disease-deafness
autosomal dominant Charcot-Marie-Tooth neuropathy and deafness
Charcot-Marie-Tooth disease type 2A1
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.
CMT2A1
Charcot-Marie-Tooth disease neuronal type 2A1
Charcot-Marie-Tooth neuropathy type 2A1
HMSN IIA1
HMSN2A1
autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
hereditary motor and sensory neuropathy IIA1
Charcot-Marie-Tooth disease type 2A2A
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
CMT2A2A
Charcot-Marie-Tooth neuronal type 2A2
Charcot-Marie-Tooth neuropathy type 2A2
HMSN IIA2
HMSN2A2
autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2
hereditary motor and sensory neuropathy IIA2
Charcot-Marie-Tooth disease type 2B1
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
CMT2B1
Charcot-Marie-Tooth disease neuronal type 2B1
Charcot-Marie-Tooth neuropathy type 2B1
autosomal recessive Charcot-Marie-Tooth disease type 2B1
autosomal recessive axonal CMT4C1
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2J
A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
CMT2J
Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
Charcot-Marie-Tooth neuropathy type 2J
Charcot-Marie-Tooth disease type 2I
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
CMT2I
Charcot-Marie-Tooth neuropathy type 2I
Charcot-Marie-Tooth disease type 2B
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
CMT2B
Charcot-Marie-Tooth neuropathy type 2B
HMSN IIB
HMSN2B
autosomal dominant Charcot-Marie-Tooth disease type 2B
hereditary motor and sensory nueropathy IIB
Charcot-Marie-Tooth disease axonal type 2T
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
AR-CMT2T
CMT2T
Charcot-Marie-Tooth neuropathy type 2T
autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 2R
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
CMT2R
Charcot-Marie-Tooth neuropathy type 2R
autosomal recessive axonal Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease, axonal type 2W
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.
CMT2W
Charcot-Marie-Tooth neuropathy type 2W
autosomal dominant axonal Charcot-Marie-Tooth disease type 2W
Charcot-Marie-Tooth disease axonal type 2F
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
CMT2F
Charcot-Marie-Tooth neuronal type 2F
Charcot-Marie-Tooth neuropathy type 2F
autosomal dominant Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2D
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene.
CMT2D
Charcot-Marie-Tooth disease neuronal type 2D
Charcot-Marie-Tooth neuropathy type 2D
autosomal dominant Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
CMT2E
Charcot-Marie-Tooth neuropathy type 2E
autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease axonal type 2H
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.
AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
CMT2H
Charcot-Marie-Tooth disease type 2H
autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
Charcot-Marie-Tooth disease axonal type 2K
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
ARCMT2K
Charcot-Marie-Tooth neuropathy axonal type 2K
autosomal recessive Charcot-Marie-Tooth disease with hoarseness
autosomal recessive axonal CMT4C4
autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease type 2Y
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.
CMT2 due to VCP mutation
CMT2Y
Charcot-Marie-Tooth neuropathy type 2Y
autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
autosomal dominant axonal Charcot-Marie-Tooth type 2Y
Charcot-Marie-Tooth disease axonal type 2P
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
CMT2P
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth neuropathy type 2P
Charcot-Marie-Tooth disease axonal type 2Q
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
CMT2Q
Charcot-Marie-Tooth neuropathy type 2Q
autosomal dominant Charcot-Marie-Tooth disease type 2Q
autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Charcot-Marie-Tooth disease axonal type 2S
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
CMT2S
Charcot-Marie-Tooth disease type 2S
Charcot-Marie-Tooth neuropathy type 2S
autosomal recessive axonal Charcot-Marie-Tooth type 2S
obsolete Charcot-Marie-Tooth disease axonal type 2G
Charcot-Marie-Tooth disease axonal type 2U
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.
CMT2U
Charcot-Marie-Tooth neuropathy type 2U
autosomal dominant Charcot-Marie-Tooth disease type 2U
autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
Charcot-Marie-Tooth disease axonal type 2L
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
CMT2L
Charcot-Marie-Tooth neuropathy axonal type 2L
autosomal dominant Charcot-Marie-Tooth disease type 2L
autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Charcot-Marie-Tooth disease axonal type 2O
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Charcot-Marie-Tooth neuropathy axonal type 2O
autosomal dominant Charcot-Marie-Tooth disease type 2O
autosomal dominant axonal Charcot-Marie-Tooth disease type 2O
Charcot-Marie-Tooth disease axonal type 2X
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.
Charcot-Marie-Tooth neuropathy type 2X
autosomal recessive axonal Charcot-Marie-Tooth disease type 2X
Charcot-Marie-Tooth disease axonal type 2N
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.
CMT2N
Charcot-Marie-Tooth neuropathy axonal type 2N
autosomal dominant Charcot-Marie-Tooth disease type 2N
autosomal dominant axonal Charcot-Marie-Tooth disease type 2N
Charcot-Marie-Tooth disease axonal type 2V
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
CMT2V
Charcot-Marie-Tooth neuropathy type 2V
autosomal dominant Charcot-Marie-Tooth disease type 2V
autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
Charcot-Marie-Tooth disease type 2B2
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.
AR-CMT2B2
ARCMT2B
Autosomal recessive axonal CMT4C3
CMT2B2
Charcot-Marie-Tooth disease neuronal type 2B2
Charcot-Marie-Tooth neuropathy type 2B2
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease axonal type 2CC
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
CMT2CC
Charcot-Marie-Tooth neuropathy type 2CC
Charcot-Marie-Tooth disease axonal type 2Z
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
CMT2Z
Charcot-Marie-Tooth neuropathy type 2Z
autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
Charcot-Marie-Tooth disease axonal type 2C
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.
CMT2C
Charcot-Marie-Tooth neuropathy type 2C
HMSN2C
autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
autosomal dominant Charcot-Marie-Tooth disease type 2C
hereditary motor and sensory neuropathy type IIc
Charcot-Marie-Tooth disease type 4C
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.
CMT4C
Charcot-Marie-Tooth neuropathy type 4C
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4J
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
CMT4J
autosomal recessive Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4A
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.
CMT4A
Charcot-Marie-Tooth neuropathy type 4A
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4D
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.
CMT4D
Charcot-Marie-Tooth neuropathy type 4D
HMSN Lom type
HMSN-Lom
HMSN4D
HMSNL
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D
hereditary motor and sensory neuropathy LOM type
Charcot-Marie-Tooth disease type 4K
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
CMT4K
SURF1-related CMT4
SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
autosomal recessive Charcot-Marie-Tooth disease type 4K
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
Leber congenital amaurosis 14
A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.
LCA14
Leber congenital amaurosis 15
A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.
LCA15
Charcot-Marie-Tooth disease type 4B2
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
CMT4B2
Charcot-Marie-Tooth neuropathy type 4B2
autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
Charcot-Marie-Tooth disease type 4B1
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
CMT4B1
Charcot-Marie-Tooth neuropathy type 4B1
autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
Charcot-Marie-Tooth disease type 4H
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
CMT4H
Charcot-Marie-Tooth neuropathy type 4H
autosomal recessive Charcot-Marie-Tooth disease type 4H
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4F
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.
CMT4F
Charcot-Marie-Tooth disease type 4B3
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.
CMT4B3
congenital hypomyelinating neuropathy 1
A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21.
CHN1
CMT4E
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth neuropathy type 4E
Neuropathy, congenital hypomyelinating, 1
autosomal recessive congenital hypomyelinating or amyelinating neuropathy
Charcot-Marie-Tooth disease type 4G
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
CMT4G
Charcot-Marie-Tooth neuropathy type 4G
HMSNR
autosomal recessive Charcot-Marie-Tooth disease type 4G
hereditary motor and sensory neuropathy Russe type
Charcot-Marie-Tooth disease dominant intermediate B
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).
CMTDI1
CMTDIB
Charcot-Marie-Tooth neuropathy dominant intermediate B
DI-CMTB
Charcot-Marie-Tooth disease recessive intermediate C
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
CMTRIC
RI-CMT type C
RI-CMTC
autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Charcot-Marie-Tooth disease dominant intermediate C
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.
CMTDIC
Charcot-Marie-Tooth neuropathy dominant intermediate C
DI-CMTC
autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Charcot-Marie-Tooth disease dominant intermediate D
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
CMTDID
Charcot-Marie-Tooth neuropathy dominant intermediate D
DI-CMTD
autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Charcot-Marie-Tooth disease recessive intermediate A
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.
CMTRIA
Charcot-Marie-Tooth neuropathy recessive intermediate A
RI-CMTA
autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease dominant intermediate A
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.
CMTDIA
Charcot-Marie-Tooth neuropathy dominant intermediate A
DI-CMTA
autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease recessive intermediate D
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.
CMTRID
RI-CMT type D
autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Charcot-Marie-Tooth disease recessive intermediate B
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.
CMTRIB
Charcot-Marie-Tooth neuropathy recessive intermediate B
RI-CMTB
autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Charcot-Marie-Tooth disease dominant intermediate E
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
CMTDIE
Charcot-Marie-Tooth disease-nephropathy syndrome
Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Charcot-Marie-Tooth disease dominant intermediate F
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
CMTDIF
autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Charcot-Marie-Tooth disease X-linked dominant 6
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22.
CMT6X
CMTX6
Charcot-Marie-Tooth neuropathy X-linked dominant 6
X-linked Charcot-Marie-Tooth disease type 6
Charcot-Marie-Tooth disease X-linked recessive 2
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2.
CMTX2
Charcot-Marie-Tooth neuropathy X-linked recessive 2
X-linked Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease X-linked dominant 1
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
CMT1X
CMTX1
Charcot-Marie-Tooth neuropathy X-linked dominant 1
X-linked Charcot-Marie-Tooth disease type 1
Charcot-Marie-Tooth disease X-linked recessive 5
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
CMT5X
CMTX5
Charcot-Marie-Tooth neuropathy X-linked recessive 5
Rosenberg-Chutorian syndrome
X-linked Charcot-Marie-Tooth disease type 5
optic atrophy, polyneuropathy, and deafness
Charcot-Marie-Tooth disease X-linked recessive 3
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26.
CMT3X
CMTX3
Charcot-Marie-Tooth neuropathy X-linked recessive 3
X-linked Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease X-linked recessive 4
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
CMT4X
CMTX4
Charcot-Marie-Tooth disease with deafness and mental retardation
Cowchock syndrome
NADMR
NAMSD
X-linked Charcot-Marie-Tooth disease type 4
axonal motor sensory neuropathy with deafness and mental retardation
isolated cleft palate
A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.
cleft soft palate
A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate.
cleft velum
cleft velum palatinum
soft cleft palate
Leber congenital amaurosis 5
A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.
LCA5
Leber congenital amaurosis 11
A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.
LCA11
Leber congenital amaurosis 17
A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
LCA17
Brugada syndrome 1
A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
BRGDA1
Brugada syndrome 2
A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22.
BRGDA2
Brugada syndrome 3
A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.
BRGDA3
Brugada syndrome 4
A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.
BRGDA4
Brugada syndrome 5
A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13.
BRGDA5
Brugada syndrome 6
A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13.
BRGDA6
Brugada syndrome 7
A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24.
BRGDA7
Brugada syndrome 8
A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24.
BRGDA8
Brugada syndrome 9
A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13.
BRGDA9
cataract 32 multiple types
A cataract that has_material_basis_in mutation in the region 14q22-q23.
CTRCT32
CTAA1
CTPP5
anterior polar cataract 1
posterior polar cataract 5
cataract 8 multiple types
A cataract that has_material_basis_in variation in the region 1pter-p36.13.
CCV
CTRCT8
cataract, congenital, Volkmann type
cataract 6 multiple types
A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36.
CTRCT6
ARCC2
CTPP1
age related cortical cataract 2
posterior polar cataract 1
cataract 34 multiple types
A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.
CATC3
CTRCT34
autosomal recessive congenital cataract 3
cataract 34 multiple types with or without microcornea
cataract 1 multiple types
A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.
CTRCT1
Duffy linked cataract
cataract 1, multiple types, with or without microcornea
CAE1
CZP1
zonular pulverulent cataract 1
cataract 29
A cataract that has_material_basis_in variation in the region 2pter-p24.
cataract 29 coralliform
cataract 27
A cataract that has_material_basis_in mutation in the region 2p12.
CTRCT27
cataract 27 nuclear progressive
cataract 4 multiple types
A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.
CTRCT4
cataract 4 multiple types with or without microcornea
CCA3
congenital cataract cerulean type 3
cataract 2 multiple types
A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33.
CTRCT2
cataract 2 multiple types with or without microcornea
cataract 39 multiple types
A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34.
CTRCT39
autosomal dominant cataract 39 multiple types
cataract 42
A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.
CTRCT42
cataract 18
A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3.
CATC2
CTRCT18
autosomal recessive congenital cataract 2
cataract 18 autosomal recessive
cataract 12 multiple types
A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
CTRCT12
cataract 20 multiple types
A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27.
CTRCT20
cataract 41
A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.
CTRCT41
congenital nuclear type cataract 41
cataract 13 with adult i phenotype
A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
CTRCT13
cataract 46 juvenile-onset
A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.
CTRCT46
juvenilae cataract Hutterite type
cataract 28
A cataract that has_material_basis_in variation in the region 6p12-q12.
ARCC1
CTRCT28
age-related cortical cataract 1
cataract 38
A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.
CATC5
CTRCT38
autosomal recessive congenital cataract 5
cataract 26 multiple types
A cataract that has_material_basis_in variation in the region 9q13-q22.
CTRCT26
cataract 36
A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33.
CATC4
CTRCT36
autosomal recessive congenital cataract 4
cataract 30
A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13.
CTRCT30
Dusty cataract
cataract 30 pulverulent
cataract Coppock-like
cataract 11 multiple types
A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.
CTRCT11
CPP4
CTPP4
posterior polar cataract 4
cataract 16 multiple types
A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.
CTRCT16
CTPP2
posterior polar cataract 2
cataract 15 multiple types
A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.
CTRCT15
cataract 37
A cataract that has_material_basis_in variation in the region 12q24.2-q24.3.
CTRCT37
CCA5
congenital cataract cerulean type 5
cataract 14 multiple types
A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12.
CTRCT14
CAE3
CZP3
zonular pulverulent cataract 3
cataract 25
A cataract that has_material_basis_in variation in the region 15q21-q22.
CCSSO
CTRCT25
central pouch-like cataract with sutural opacities
central saccular cataract with sutural opacities
early-onset cataract with Y-shaped suture opacities
cataract 5 multiple types
A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.
CTRCT5
cataract 21 multiple types
A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23.
CTRCT21
cataract 21 multiple types with or without microcornea
CCA4
congenital cataract Cerulean type 4
cataract 24
A cataract that has_material_basis_in variation in the region 17p13.
CTRCT24
CTAA2
anterior polar cataract 2
anterior polar cataract 24
cataract 10 multiple types
A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11.
CTRCT10
CCZS
congenital zonular cataract with sutural opacities
cataract 43
A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12.
CTRCT43
cataract 7
A cataract that has_material_basis_in variation in the region 17q24.
CTRCT7
CCA1
Cerulean type cataract 7
congenital Cerulean type cataract 1
cataract 35
A cataract that has_material_basis_in variation in the region 19q13.
CATCN1
CTRCT35
autosomal recessive congenital nuclear cataract 1
cataract 35, congenital nuclear
cataract 45
A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13.
CTRCT45
cataract 19 multiple types
A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13.
CTRCT19
cataract 33
A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12.
CTRCT33
cortical cataract 33
cataract 31 multiple types
A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11.
CTRCT31
CPP3
CTPP3
posterior polar cataract 3
cataract 9 multiple types
A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.
CTRCT9
cataract 9 multiple types with or without microcornea
CATC1
autosomal recessive congenital cataract 1
cataract 44
A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22.
CTRCT44
total early-onset cataract
cataract 22 multiple types
A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.
CTRCT22
CATCN2
autosomal recessive congenital nuclear cataract 2
cataract 3 multiple types
A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.
CTRCT3
cataract 3 multiple types with or without microcornea
CCA2
congenital Cerulean type cataract 2
cataract 17 multiple types
A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.
CTRCT17
CATCN3
autosomal recessive congenital nuclear cataract 3
cataract 23
A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.
CTRCT23
lamellar cataract 23
cataract 40
A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22.
CTRCT40
cataract 40 X-linked
cataract 40 with or without microcornea
autosomal dominant limb-girdle muscular dystrophy
A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance.
limb-girdle muscular dystrophy
A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
Erb's muscular dystrophy
Leyden-Mbius muscular dystrophy
limb girdle muscular dystrophy
autosomal recessive limb-girdle muscular dystrophy type 2A
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.
LGMD2A
Leyden-Moebius muscular dystrophy
limb-girdle muscular dystrophy due to calpain deficiency
muscular dystrophy, limb-girdle, type 2A
pelvofemoral muscular dystrophy
primary calpainopathy
autosomal recessive limb-girdle muscular dystrophy type 2B
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.
LGMD2B
LGMD3
limb-girdle muscular dystrophy due to dysferlin deficiency
limb-girdle muscular dystrophy type 3
autosomal recessive limb-girdle muscular dystrophy type 2C
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
DMDA1
LGMD2C
Maghrebian myopathy
SCARMD
autosomal recessive Duchenne-like muscular dystrophy type 1
deficiency of sarcoglycan gamma
gamma-sarcoglycanopathy
limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
muscular dystrophy, limb-girdle, type 2C
severe childhood autosomal recessive muscular dystrophy North African type
autosomal recessive limb-girdle muscular dystrophy type 2D
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.
Alpha-sarcoglycanopathy
DMDA2
Duchenne-like autosomal recessive muscular dystrophy type 2
LGMD2D
muscular dystrophy, limb-girdle, type 2D
primary adhalinopathy
autosomal recessive limb-girdle muscular dystrophy type 2E
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.
Beta-sarcoglycanopathy
LGMD2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
muscular dystrophy, limb-girdle, type 2E
autosomal recessive limb-girdle muscular dystrophy type 2F
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).
LGMD2F
delta-sarcoglycanopathy
limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
autosomal recessive limb-girdle muscular dystrophy type 2G
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).
LGMD2G
limb-girdle muscular dystrophy due to telethonin deficiency
muscular dystrophy, limb-girdle, type 2G
autosomal recessive limb-girdle muscular dystrophy type 2H
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.
LGMD2H
limb-girdle muscular dystrophy due to TRIM32 deficiency
muscular dystrophy Hutterite type
sarcotubular myopathy
autosomal recessive limb-girdle muscular dystrophy type 2J
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).
LGMD2J
muscular dystrophy, limb-girdle, type 2J
autosomal recessive limb-girdle muscular dystrophy type 2L
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.
LGMD2L
muscular dystrophy, limb-girdle, type 2L
autosomal recessive limb-girdle muscular dystrophy type 2Q
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.
LGMD2Q
autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
muscular dystrophy, limb-girdle, type 2Q
obsolete autosomal recessive limb-girdle muscular dystrophy type 2R
autosomal recessive limb-girdle muscular dystrophy type 2S
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
LGMD2S
muscular dystrophy, limb-girdle, type 2S
autosomal recessive limb-girdle muscular dystrophy type 2W
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14.
LGMD2W
muscular dystrophy, limb-girdle, type 2W
autosomal recessive limb-girdle muscular dystrophy type 2Y
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
LGMD2Y
autosomal recessive muscular dystrophy due to LAP1B deficiency
autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
muscular dystrophy with progressive weakness, distal contractures and rigid spine
muscular dystrophy, limb-girdle, type 2Y
autosomal recessive limb-girdle muscular dystrophy type 2X
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
LGMD2X
muscular dystrophy, limb-girdle, type 2X
Leber congenital amaurosis 10
A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.
LCA10
autosomal recessive limb-girdle muscular dystrophy type 2O
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
LGMD2O
MDDGC3
muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
autosomal recessive limb-girdle muscular dystrophy type 2P
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.
LGMD2P
MDDGC9
muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
autosomal recessive limb-girdle muscular dystrophy type 2T
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
LGMD2T
MDDGC14
muscular dystrophy limb-girdle type 2T
muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
autosomal recessive limb-girdle muscular dystrophy type 2U
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
LGMD2U
MDDGC7
autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
muscular dystrophy limb-girdle type 2U
muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
autosomal recessive limb-girdle muscular dystrophy type 2M
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.
LGMD2M
MDDGC4
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
autosomal recessive limb-girdle muscular dystrophy type 2K
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
LGMD2K
MDDGC1
limb-girdle muscular dystrophy-intellectual disability syndrome
muscular dystrophy limb-girdle type 2K
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
autosomal recessive limb-girdle muscular dystrophy type 2N
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
LGMD2N
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
autosomal recessive limb-girdle muscular dystrophy type 2I
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
LGMD2I
Limb-girdle muscular dystrophy due to FKRP deficiency
MDDGC5
muscular dystrophy limb-girdle type 2I
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
autosomal dominant limb-girdle muscular dystrophy type 1H
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23.
muscular dystrophy limb-girdle type 1H
autosomal dominant limb-girdle muscular dystrophy type 2
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.
autosomal dominant limb-girdle muscular dystrophy type 1F
muscular dystrophy limb-girdle type 1F
autosomal dominant limb-girdle muscular dystrophy type 1
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.
autosomal dominant limb-girdle muscular dystrophy type 1E
muscular dystrophy limb-girdle type 1D
muscular dystrophy limb-girdle type 1E
autosomal dominant limb-girdle muscular dystrophy type 3
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.
LGMD1G
autosomal dominant limb-girdle muscular dystrophy type 1G
muscular dystrophy limb-girdle type 1G
hypertrophic cardiomyopathy 1
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.
CMH1
cardiomyopathy, familial hypertrophic 1
hypertrophic cardiomyopathy 19
hypertrophic cardiomyopathy 2
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).
CMH2
cardiomyopathy familial hypertrophic 2
hypertrophic cardiomyopathy 3
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.
CMH3
cardiomyopathy familial hypertrophic 3
hypertrophic cardiomyopathy 4
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.
CMH4
cardiomyopathy, familial hypertrophic, 4
hypertrophic cardiomyopathy 21
A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation.
CMH21
cardiomyopathy familial hypertrophic 21
hypertrophic cardiomyopathy 6
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).
CMH6
cardiomyopathy, familial hypertrophic 6
hypertrophic cardiomyopathy 7
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.
CMH7
cardiomyopathy, familial hypertrophic 7
hypertrophic cardiomyopathy 8
A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene.
cardiomyopathy hypertrophic mid-left ventricular chamber type 1
cardiomyopathy, familial hypertrophic, 8
hypertrophic cardiomyopathy 9
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
CMH9
cardiomyopathy, familial hypertrophic, 9
hypertrophic cardiomyopathy 10
A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene.
CMH10
cardiomyopathy, familial hypertrophic, 10
hypertrophic cardiomyopathy 11
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.
CMH11
cardiomyopathy familial hypertrophic 11
hypertrophic cardiomyopathy 12
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15.
CMH12
cardiomyopathy familial hypertrophic 12
hypertrophic cardiomyopathy 13
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21.
CMH13
cardiomyopathy familial hypertrophic 13
hypertrophic cardiomyopathy 14
A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.
CMH14
cardiomyopathy familial hypertrophic 14
hypertrophic cardiomyopathy 15
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.
CMH15
cardiomyopathy familial hypertrophic 15
hypertrophic cardiomyopathy 16
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26.
CMH16
cardiomyopathy familial hypertrophic 16
hypertrophic cardiomyopathy 17
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.
CMH17
cardiomyopathy familial hypertrophic 17
hypertrophic cardiomyopathy 18
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.
CMH18
cardiomyopathy familial hypertrophic 18
obsolete hypertrophic cardiomyopathy 19
hypertrophic cardiomyopathy 20
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1.
CMH20
cardiomyopathy familial hypertrophic 20
hypertrophic cardiomyopathy 26
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
CMH26
cardiomyopathy familial hypertrophic 26
hypertrophic cardiomyopathy 25
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12.
CMH25
cardiomyopathy familial hypertrophic 25
Leber congenital amaurosis 6
A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.
LCA6
Leber congenital amaurosis 13
A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.
LCA13
Leber congenital amaurosis 3
A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31.
LCA3
Leber congenital amaurosis 4
A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.
LCA4
Leber congenital amaurosis 7
A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13.
LCA7
osteogenesis imperfecta type 1
An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI1
osteogenesis imperfecta type I
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
An osteogenesis imperfecta found in a single South African family.
osteogenesis imperfecta type 8
An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.
OI8
osteogenesis imperfecta type VIII
osteogenesis imperfecta type 7
An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22.
OI7
osteogenesis imperfecta type VII
osteogenesis imperfecta type 17
An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33.
OI17
osteogenesis imperfecta type XVII
osteogenesis imperfecta type 3
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI3
osteogenesis imperfecta type III
progressively deforming osteogenesis imperfecta with normal sclera
osteogenesis imperfecta type 4
An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI4
osteogenesis imperfecta type IV
osteogenesis imperfecta with normal sclera
osteogenesis imperfecta type 2
An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
OI2
Vrolik type of osteogenesis imperfecta
osteogenesis imperfecta type II
perinatal lethal osteogenesis imperfecta congenita
osteogenesis imperfecta type 13
An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21.
OI13
osteogenesis imperfecta type XIII
osteogenesis imperfecta type 14
An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31.
OI14
osteogenesis imperfecta type XIV
osteogenesis imperfecta type 5
An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15.
OI5
osteogenesis imperfecta type V
osteogenesis imperfecta type 16
An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11.
OI16
chromosome 11p11.2 deletion syndrome 91.3-KB
osteogenesis imperfecta type XVI
osteogenesis imperfecta type 10
An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13.
OI10
osteogenesis imperfecta type X
osteogenesis imperfecta type 15
An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.
OI15
osteogenesis imperfecta type XV
osteogenesis imperfecta type 12
An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
OI12
osteogenesis imperfecta type XII
osteogenesis imperfecta type 9
An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22.
OI9
osteogenesis imperfecta type IX
osteogenesis imperfecta type 6
An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.
OI6
osteogenesis imperfecta type VI
osteogenesis imperfecta type 11
An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21.
OI11
osteogenesis imperfecta type XI
retinitis pigmentosa 59
A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11.
RP59
retinitis pigmentosa 20
A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31.
RP20
retinitis pigmentosa 19
A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.
RP19
retinitis pigmentosa 32
A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13.
RP32
retinitis pigmentosa 18
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21.
RP18
retinitis pigmentosa 35
A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22.
RP35
retinitis pigmentosa 12
A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3.
RP12
retinitis pigmentosa 67
A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32.
RP67
retinitis pigmentosa 39
A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41.
RP39
retinitis pigmentosa 75
A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23.
RP75
retinitis pigmentosa 58
A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23.
RP58
retinitis pigmentosa 71
A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.
RP71
retinitis pigmentosa 54
A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23.
RP54
retinitis pigmentosa 28
A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15.
RP28
retinitis pigmentosa 33
A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.
RP33
retinitis pigmentosa 38
A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13.
RP38
retinitis pigmentosa 26
A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31.
RP26
retinitis pigmentosa 47
A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.
RP47
retinitis pigmentosa 55
A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2.
RP55
retinitis pigmentosa 56
A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3.
RP56
retinitis pigmentosa 4
A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.
RP4
retinitis pigmentosa 61
A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25.
RP61
retinitis pigmentosa 68
A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26.
RP68
retinitis pigmentosa 40
A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16.
RP40
retinitis pigmentosa 41
A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15.
RP41
retinitis pigmentosa 49
A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12.
RP49
retinitis pigmentosa 29
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34.
RP29
retinitis pigmentosa 43
A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33.
RP43
retinitis pigmentosa 62
A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2.
RP62
retinitis pigmentosa 14
A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.
RP14
retinitis pigmentosa 48
A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1.
RP48
retinitis pigmentosa 7
A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21.
RP7
retinitis pigmentosa 25
A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12.
RP25
retinitis pigmentosa 63
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23.
RP63
retinitis pigmentosa 42
A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3.
RP42
retinitis pigmentosa 9
A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14.
RP9
retinitis pigmentosa 10
A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32.
RP10
retinitis pigmentosa 73
A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11.
RP73
retinitis pigmentosa 1
A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12.
RP1
retinitis pigmentosa 31
A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21.
RP31
retinitis pigmentosa 70
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32.
RP70
retinitis pigmentosa 66
A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11.
RP66
retinitis pigmentosa 44
A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23.
RP44
retinitis pigmentosa 72
A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11.
RP72
retinitis pigmentosa 50
A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13.
RP50
retinitis pigmentosa 27
A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11.
RP27
retinitis pigmentosa 51
A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31.
RP51
retinitis pigmentosa 37
A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23.
RP37
retinitis pigmentosa 22
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1.
RP22
retinitis pigmentosa 74
A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13.
RP74
retinitis pigmentosa 45
A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13.
RP45
retinitis pigmentosa 13
A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.
RP13
retinitis pigmentosa 17
A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.
RP17
retinitis pigmentosa 36
A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25.
RP36
retinitis pigmentosa 30
A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25.
RP30
retinitis pigmentosa 57
A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3.
RP57
retinitis pigmentosa 11
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13.
RP11
retinitis pigmentosa 46
A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13.
RP46
retinitis pigmentosa 69
A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11.
RP69
retinitis pigmentosa 60
A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33.
RP60
retinitis pigmentosa 23
A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22.
RP23
retinitis pigmentosa 6
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2.
RP6
retinitis pigmentosa 3
A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.
RP3
retinitis pigmentosa 2
A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3.
RP2
retinitis pigmentosa 24
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27.
RP24
retinitis pigmentosa 34
A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28.
RP34
retinitis pigmentosa Y-linked
A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.
retinitis pigmentosa with or without situs inversus
A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13.
dominant pericentral pigmentary retinopathy
A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.
late-adult onset retinitis pigmentosa
A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.
senile retinitis pigmentosa
autosomal recessive pericentral pigmentary retinopathy
A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.
dilated cardiomyopathy 1C
A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.
CMDC1
dilated cardiomyopathy 1C with or without left ventricular noncompaction
dilated cardiomyopathy 1CC
A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1.
CMD1CC
dilated cardiomyopathy 1A
A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
CDCD1
dilated cardiomyopathy with conduction defect 1
familial dilated cardiomyopathy with conduction defect due to LMNA mutation
dilated cardiomyopathy 1D
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32.
CMD1D
dilated cardiomyopathy 1V
A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42.
CMD1V
dilated cardiomyopathy 1AA
A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43.
CMD1AA
dilated cardiomyopathy 1AA with or without left ventricular noncompaction
dilated cardiomyopathy 1H
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.
dilated cardiomyopathy with conduction defect
dilated cardiomyopathy 1G
A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31.
CMD1G
dilated cardiomyopathy 1I
A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35.
CMD1I
dilated cardiomyopathy 1NN
A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25.
CMD1NN
dilated cardiomyopathy 1E
A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2.
CDCD2
CMD1E
dilated cardiomyopathy with conduction defect 2
dilated cardiomyopathy with conduction disorder and arrhythmia
dilated cardiomyopathy 1Z
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p.
CMD1Z
dilated cardiomyopathy 1GG
A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.
CMD1GG
dilated cardiomyopathy 1L
A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3.
CMD1L
dilated cardiomyopathy 1K
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16.
CMD1K
dilated cardiomyopathy 1JJ
A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21.
CMD1JJ
dilated cardiomyopathy 1P
A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22.
CMD1P
dilated cardiomyopathy 1J
A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.
CMD1J
autosomal dominant dilated cardiomyopathy with sensorineural hearing loss
neurosensory deafness with dilated cardiomyopathy
neurosensory hearing loss with dilated cardiomyopathy
sensorineural deafness with dilated cardiomyopathy
sensorineural hearing loss with dilated cardiomyopathy
dilated cardiomyopathy 2B
A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21.
CMD2B
dilated cardiomyopathy 1Q
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1.
CMD1Q
dilated cardiomyopathy 1B
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13.
dilated cardiomyopathy 1X
A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.
CMD1X
dilated cardiomyopathy with mild or no proximal muscle weakness
dilated cardiomyopathy 1KK
A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21.
CMD1KK
dilated cardiomyopathy 1W
A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2.
CMD1W
dilated cardiomyopathy 1DD
A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25.
CMD1DD
dilated cardiomyopathy 1HH
A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11.
CMD1HH
dilated cardiomyopathy 1M
A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15.
CMD1M
dilated cardiomyopathy 1II
A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23.
CMD1II
dilated cardiomyopathy 1O
A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.
CMD1O
dilated cardiomyopathy with ventricular tachycardia
dilated cardiomyopathy 1T
A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22.
CMD1T
dilated cardiomyopathy 1EE
A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2.
CMD1EE
dilated cardiomyopathy 1S
A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.
CMD1S
dilated cardiomyopathy 1U
A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3.
CMD1U
dilated cardiomyopathy 1R
A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.
CMD1R
dilated cardiomyopathy 1Y
A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1.
CMD1Y
dilated cardiomyopathy 1BB
A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1.
CMD1BB
dilated cardiomyopathy 1FF
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42.
CMD1FF
dilated cardiomyopathy 2A
A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.
CMD2A
autosomal recessive nonsyndromic deafness 101
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32.
DFNB101
autosomal recessive deafness 101
autosomal recessive nonsyndromic deafness 102
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.
DFNB102
autosomal recessive deafness 102
autosomal recessive nonsyndromic deafness 103
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.
DFNB103
autosomal recessive deafness 103
autosomal recessive nonsyndromic deafness 104
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22.
DFNB104
autosomal recessive deafness 104
obsolete autosomal recessive nonsyndromic deafness 105
autosomal recessive nonsyndromic deafness 12
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22.
DFNB12
autosomal recessive deafness 12
autosomal recessive nonsyndromic deafness 13
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36.
DFNB13
autosomal recessive deafness 13
autosomal recessive nonsyndromic deafness 14
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31.
DFNB14
autosomal recessive deafness 14
autosomal recessive nonsyndromic deafness 15
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13.
DFNB15
DFNB72
DFNB95
autosomal recessive deafness 15
autosomal recessive deafness 72
autosomal recessive deafness 95
autosomal recessive nonsyndromic deafness 16
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15.
DFNB16
autosomal recessive deafness 16
autosomal recessive nonsyndromic deafness 17
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31.
DFNB17
autosomal recessive deafness 17
autosomal recessive nonsyndromic deafness 18A
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15.
DFNB18A
autosomal recessive deafness 18A
autosomal recessive nonsyndromic deafness 18B
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.
DFNB18B
autosomal recessive deafness 18B
autosomal recessive nonsyndromic deafness 1A
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
DFNB1A
autosomal recessive deafness 1A
digenic deafness GJB2/GJB3
digenic deafness GJB2/GJB6
autosomal recessive nonsyndromic deafness 1B
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.
DFNB1B
autosomal recessive deafness 1B
autosomal recessive nonsyndromic deafness 2
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.
DFNB2
autosomal recessive deafness 2
autosomal recessive nonsyndromic deafness 20
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter.
DFNB20
autosomal recessive deafness 20
autosomal recessive nonsyndromic deafness 21
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3.
DFNB21
autosomal recessive deafness 21
autosomal recessive nonsyndromic deafness 22
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12.
DFNB22
autosomal recessive deafness 22
autosomal recessive nonsyndromic deafness 23
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21.
DFNB23
autosomal recessive deafness 23
autosomal recessive nonsyndromic deafness 24
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22.
DFNB24
autosomal recessive deafness 24
autosomal recessive nonsyndromic deafness 25
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13.
DFNB25
autosomal recessive deafness 25
autosomal recessive nonsyndromic deafness 26
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31.
DFNB26
autosomal recessive deafness 26
autosomal recessive nonsyndromic deafness 27
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31.
DFNB27
autosomal recessive deafness 27
autosomal recessive nonsyndromic deafness 28
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13.
DFNB28
autosomal recessive deafness 28
autosomal recessive nonsyndromic deafness 29
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22.
DFNB29
autosomal recessive deafness 29
autosomal recessive nonsyndromic deafness 3
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11.
DFNB3
NRSD3
autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3
autosomal recessive nonsyndromic deafness 30
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1.
DFNB30
autosomal recessive deafness 30
autosomal recessive nonsyndromic deafness 31
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32.
DFNB31
autosomal recessive deafness 31
autosomal recessive nonsyndromic deafness 32
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2.
DFNB32
HIIMS
autosomal recessive deafness 105
autosomal recessive deafness 32
hearing impairment infertile male syndrome
autosomal recessive nonsyndromic deafness 33
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1.
DFNB33
autosomal recessive deafness 33
autosomal recessive nonsyndromic deafness 35
An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24.
DFNB35
autosomal recessive deafness 35
autosomal recessive nonsyndromic deafness 36
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.
DFNB36
autosomal recessive deafness 36
autosomal recessive nonsyndromic deafness 37
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.
DFNB37
autosomal recessive deafness 37
autosomal recessive nonsyndromic deafness 38
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27.
DFNB38
autosomal recessive deafness 38
autosomal recessive nonsyndromic deafness 39
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21.
DFNB39
autosomal recessive deafness 39
autosomal recessive nonsyndromic deafness 4
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.
DFNB4
autosomal recessive deafness 4 with enlarged vestibular aqueduct
autosomal recessive nonsyndromic deafness 40
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1.
DFNB40
autosomal recessive deafness 40
autosomal recessive nonsyndromic deafness 42
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13.
DFNB42
autosomal recessive deafness 42
autosomal recessive nonsyndromic deafness 44
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12.
DFNB44
autosomal recessive deafness 44
autosomal recessive nonsyndromic deafness 45
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44.
DFNB45
autosomal recessive deafness 45
autosomal recessive nonsyndromic deafness 46
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31.
DFNB46
autosomal recessive deafness 46
autosomal recessive nonsyndromic deafness 47
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3.
DFNB47
autosomal recessive deafness 47
autosomal recessive nonsyndromic deafness 48
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25.
DFNB48
autosomal recessive deafness 48
Usher syndrome type 1J
autosomal recessive nonsyndromic deafness 49
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13.
DFNB49
autosomal recessive deafness 49
autosomal recessive nonsyndromic deafness 5
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12.
DFNB5
autosomal recessive deafness 5
autosomal recessive nonsyndromic deafness 51
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12.
DFNB51
autosomal recessive deafness 51
autosomal recessive nonsyndromic deafness 53
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
DFNB53
autosomal recessive deafness 53
autosomal recessive nonsyndromic deafness 55
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2.
DFNB55
autosomal recessive deafness 55
autosomal recessive nonsyndromic deafness 59
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31.
DFNB59
autosomal recessive deafness 59
autosomal recessive nonsyndromic deafness 6
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21.
DFNB6
autosomal recessive deafness 6
autosomal recessive nonsyndromic deafness 61
An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22.
DFNB61
autosomal recessive deafness 61
autosomal recessive nonsyndromic deafness 62
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23.
DFNB62
autosomal recessive deafness 62
autosomal recessive nonsyndromic deafness 63
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13.
DFNB63
autosomal recessive deafness 63
autosomal recessive nonsyndromic deafness 65
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3.
DFNB65
autosomal recessive deafness 65
autosomal recessive nonsyndromic deafness 66
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22.
DFNB66
autosomal recessive deafness 66
autosomal recessive nonsyndromic deafness 67
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21.
DFNB67
autosomal recessive deafness 67
autosomal recessive nonsyndromic deafness 68
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13.
DFNB68
autosomal recessive deafness 68
autosomal recessive nonsyndromic deafness 7
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.
DFNB11
DFNB7
autosomal recessive deafness 7
autosomal recessive nonsyndromic deafness 70
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16.
DFNB70
autosomal recessive deafness 70
autosomal recessive nonsyndromic deafness 71
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3.
DFNB71
autosomal recessive deafness 71
autosomal recessive nonsyndromic deafness 74
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14.
DFNB74
autosomal recessive deafness 74
autosomal recessive nonsyndromic deafness 76
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13.
DFNB76
autosomal recessive deafness 76
autosomal recessive nonsyndromic deafness 77
An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21.
DFNB77
autosomal recessive deafness 77
autosomal recessive nonsyndromic deafness 79
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34.
DFNB79
autosomal recessive deafness 79
autosomal recessive nonsyndromic deafness 8
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22.
DFNB10
DFNB8
NRSD8
autosomal recessive deafness 10
autosomal recessive deafness 8
childhood-onset neurosensory autosomal recessive deafness 8
neurosensory nonsyndromic recessive deafness 8
autosomal recessive nonsyndromic deafness 83
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2.
DFNB83
autosomal recessive deafness 83
autosomal recessive nonsyndromic deafness 84A
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.
DFNB84A
autosomal recessive deafness 84A
autosomal recessive deafness 84A with vestibular dysfunction
autosomal recessive nonsyndromic deafness 84B
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21.
DFNB84B
autosomal recessive deafness 84B
autosomal recessive nonsyndromic deafness 85
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2.
DFNB85
autosomal recessive deafness 85
autosomal recessive nonsyndromic deafness 86
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.
DFNB86
autosomal recessive deafness 86
autosomal recessive nonsyndromic deafness 88
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11.
DFNB88
autosomal recessive deafness 88
autosomal recessive nonsyndromic deafness 89
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23.
DFNB89
autosomal recessive deafness 89
autosomal recessive nonsyndromic deafness 9
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23.
DFNB9
NRSD9
autosomal recessive deafness 9
neurosensory nonsyndromic recessive deafness 9
autosomal recessive nonsyndromic deafness 91
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25.
DFNB91
autosomal recessive deafness 91
autosomal recessive nonsyndromic deafness 93
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13.
DFNB93
autosomal recessive deafness 93
autosomal recessive nonsyndromic deafness 96
An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13.
DFNB96
autosomal recessive deafness 96
autosomal recessive nonsyndromic deafness 97
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31.
DFNB97
autosomal recessive deafness 97
autosomal recessive nonsyndromic deafness 98
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22.
DFNB98
autosomal recessive deafness 98
autosomal dominant nonsyndromic deafness 1
An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.
DFNA1
Konigsmark syndrome
LFHL1
autosomal dominant deafness 1
autosomal dominant deafness 1, with or without thrombocytopenia
hereditary low frequency hearing loss 1
autosomal dominant nonsyndromic deafness 10
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.
DFNA10
autosomal dominant deafness 10
autosomal dominant nonsyndromic deafness 11
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.
DFNA11
autosomal dominant deafness 11
autosomal dominant nonsyndromic deafness 12
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.
DFNA12
DFNA8
autosomal dominant deafness 12
autosomal dominant deafness 8
autosomal dominant nonsyndromic deafness 13
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.
DFNA13
autosomal dominant deafness 13
autosomal dominant nonsyndromic deafness 15
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32.
DFNA15
DFNA52
autosomal dominant deafness 15
autosomal dominant deafness 52
autosomal dominant nonsyndromic deafness 52
autosomal dominant nonsyndromic deafness 16
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3.
DFNA16
autosomal dominant deafness 16
autosomal dominant nonsyndromic deafness 17
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12.
DFNA17
autosomal dominant deafness 17
autosomal dominant nonsyndromic deafness 18
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22.
DFNA18
autosomal dominant deafness 18
autosomal dominant nonsyndromic deafness 20
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.
DFNA20
DFNA26
autosomal dominant deafness 20
autosomal dominant nonsyndromic deafness 21
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3.
DFNA21
autosomal dominant deafness 21
autosomal dominant nonsyndromic deafness 22
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.
DFNA22
autosomal dominant deafness 22
autosomal dominant nonsyndromic deafness 23
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23.
DFNA23
autosomal dominant deafness 23
autosomal dominant nonsyndromic deafness 24
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter.
DFNA24
autosomal dominant deafness 24
autosomal dominant nonsyndromic deafness 25
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23.
DFNA25
autosomal dominant deafness 25
autosomal dominant nonsyndromic deafness 27
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1.
DFNA27
autosomal dominant deafness 27
autosomal dominant nonsyndromic deafness 28
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22.
DFNA28
autosomal dominant deafness 28
autosomal dominant nonsyndromic deafness 2A
An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2.
DFNA2A
autosomal dominant deafness 2A
autosomal dominant nonsyndromic deafness 2B
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3.
DFNA2B
autosomal dominant deafness 2B
autosomal dominant nonsyndromic deafness 30
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26.
DFNA30
autosomal dominant deafness 30
autosomal dominant nonsyndromic deafness 31
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3.
DFNA31
autosomal dominant deafness 31
Variation in ATP11A, which resides in the chromosome region linked to this disease, 13q34, has been shown to cause autosomal dominant nonsyndromic deafness but evidence does not support it as the cause of this subtype. Reassessment of the haplotype for this disease has suggested that the locus may be inaccurate [JAB].
autosomal dominant nonsyndromic deafness 33
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34.
DFNA33
autosomal dominant deafness 33
autosomal dominant nonsyndromic deafness 36
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.
DFNA36
autosomal dominant deafness 36
autosomal dominant nonsyndromic deafness 3A
An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.
DFNA3A
autosomal dominant deafness 3A
autosomal dominant nonsyndromic deafness 3B
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.
DFNA3B
autosomal dominant deafness 3B
autosomal dominant nonsyndromic deafness 40
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12.
DFNA40
autosomal dominant deafness 40
autosomal dominant nonsyndromic deafness 41
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24.
DFNA41
autosomal dominant deafness 41
autosomal dominant nonsyndromic deafness 43
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12.
DFNA43
autosomal dominant deafness 43
autosomal dominant nonsyndromic deafness 44
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.
DFNA44
autosomal dominant deafness 44
autosomal dominant nonsyndromic deafness 47
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21.
DFNA47
autosomal dominant deafness 47
autosomal dominant nonsyndromic deafness 48
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14.
DFNA48
autosomal dominant deafness 48
autosomal dominant nonsyndromic deafness 49
An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23.
DFNA49
autosomal dominant deafness 49
autosomal dominant nonsyndromic deafness 4A
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33.
DFNA4A
autosomal dominant deafness 4A
autosomal dominant nonsyndromic deafness 4B
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13.
DFNA4B
autosomal dominant deafness 4B
autosomal dominant nonsyndromic deafness 5
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.
DFNA5
autosomal dominant deafness 5
autosomal dominant nonsyndromic deafness 50
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32.
DFNA50
autosomal dominant deafness 50
autosomal dominant nonsyndromic deafness 51
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
DFNA51
autosomal dominant deafness 51
chromosome 9q21.11 duplication syndrome
Merged by OMIM. Same gene as 'term replaced by'. [JAB]
obsolete autosomal dominant nonsyndromic deafness 52
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32.
autosomal dominant nonsyndromic deafness 53
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12.
DFNA53
autosomal dominant deafness 53
autosomal dominant nonsyndromic deafness 54
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.
DFNA54
autosomal dominant deafness 54
autosomal dominant nonsyndromic deafness 56
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33.
DFNA56
autosomal dominant deafness 56
autosomal dominant nonsyndromic deafness 58
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12.
DFNA58
autosomal dominant deafness 58
autosomal dominant nonsyndromic deafness 59
An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3.
DFNA59
autosomal dominant deafness 59
autosomal dominant nonsyndromic deafness 6
An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16.
DFNA14
DFNA38
DFNA6
DFNA6/14/38
autosomal dominant deafness 14
autosomal dominant deafness 38
autosomal dominant deafness 6
autosomal dominant nonsyndromic deafness 64
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24.
DFNA64
autosomal dominant deafness 64
autosomal dominant nonsyndromic deafness 65
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.
DFNA65
autosomal dominant deafness 65
autosomal dominant nonsyndromic deafness 66
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21.
DFNA66
autosomal dominant deafness 66
autosomal dominant nonsyndromic deafness 67
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13.
DFNA67
autosomal dominant deafness 67
autosomal dominant nonsyndromic deafness 68
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25.
DFNA68
autosomal dominant deafness 68
autosomal dominant nonsyndromic deafness 69
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21.
DCUA
DFNA69
autosomal dominant deafness 69
unilateral or asymmetric congenital deafness
autosomal dominant nonsyndromic deafness 7
An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23.
DFNA7
autosomal dominant deafness 7
autosomal dominant nonsyndromic deafness 70
An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21.
DFNA70
autosomal dominant deafness 70
autosomal dominant nonsyndromic deafness 9
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12.
DFNA9
autosomal dominant deafness 9
primary ciliary dyskinesia 1
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
CILD1
primary ciliary dyskinesia 1 with or without situs inversus
Stromme syndrome
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
CILD31
apple peel syndrome with microcephaly and ocular anomalies
jejunal atresia with microcephaly and ocular anomalies
lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
primary ciliary dyskinesia 31
primary ciliary dyskinesia 21
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
CILD21
primary ciliary dyskinesia 21 without situs inversus
primary ciliary dyskinesia 22
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.
CILD22
primary ciliary dyskinesia 22 with or without situs inversus
primary ciliary dyskinesia 14
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
CILD14
primary ciliary dyskinesia 14 with or without situs inversus
primary ciliary dyskinesia 3
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
CILD3
primary ciliary dyskinesia 3 with or without situs inversus
primary ciliary dyskinesia 29
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
CILD29
primary ciliary dyskinesia 29 without situs inversus
primary ciliary dyskinesia 12
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.
CILD12
primary ciliary dyskinesia 12 without situs inversus
primary ciliary dyskinesia 11
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.
CILD11
primary ciliary dyskinesia 11 without situs inversus
primary ciliary dyskinesia 32
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
CILD32
primary ciliary dyskinesia 32 without situs inversus
primary ciliary dyskinesia 18
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
CILD18
primary ciliary dyskinesia 18 with or without situs inversus
primary ciliary dyskinesia 7
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.
CILD7
primary ciliary dyskinesia 7 with or without situs inversus
primary ciliary dyskinesia 6
A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1.
CILD6
primary ciliary dyskinesia 28
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
CILD28
primary ciliary dyskinesia 28 with or without situs inversus
primary ciliary dyskinesia 19
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24.
CILD19
primary ciliary dyskinesia 19 with or without situs inversus
primary ciliary dyskinesia 23
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
CILD23
primary ciliary dyskinesia 23 with or without situs inversus
primary ciliary dyskinesia 34
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.
CILD34
primary ciliary dyskinesia 34 without situs inversus
primary ciliary dyskinesia 27
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
CILD27
primary ciliary dyskinesia 27 without situs inversus
primary ciliary dyskinesia 10
A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
CILD10
primary ciliary dyskinesia 10 with or without situs inversus
primary ciliary dyskinesia 16
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
CILD16
primary ciliary dyskinesia 16 with or without situs inversus
primary ciliary dyskinesia 4
A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.
CILD4
primary ciliary dyskinesia 4 with or without situs inversus
primary ciliary dyskinesia 25
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
CILD25
primary ciliary dyskinesia 25 with or without situs inversus
primary ciliary dyskinesia 8
A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25.
CILD8
primary ciliary dyskinesia 8 with or without situs inversus
primary ciliary dyskinesia 5
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
CILD5
primary ciliary dyskinesia 5 without situs inversus
primary ciliary dyskinesia 13
A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
CILD13
primary ciliary dyskinesia 13 with or without situs inversus
primary ciliary dyskinesia 33
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.
CILD33
primary ciliary dyskinesia 33 without situs inversus
primary ciliary dyskinesia 35
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.
CILD35
primary ciliary dyskinesia 35 with or without situs inversus
primary ciliary dyskinesia 17
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
CILD17
primary ciliary dyskinesia 17 with or without situs inversus
primary ciliary dyskinesia 9
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
CILD9
primary ciliary dyskinesia 9 with or without situs inversus
primary ciliary dyskinesia 15
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
CILD15
primary ciliary dyskinesia 15 with or without situs inversus
primary ciliary dyskinesia 30
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
CILD30
primary ciliary dyskinesia 30 without situs inversus
primary ciliary dyskinesia 20
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.
CILD20
primary ciliary dyskinesia 20 with or without situs inversus
primary ciliary dyskinesia 2
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
CILD2
primary ciliary dyskinesia 2 with or without situs inversus
primary ciliary dyskinesia 26
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.
CILD26
primary ciliary dyskinesia 26 with or without situs inversus
primary ciliary dyskinesia 24
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
CILD24
primary ciliary dyskinesia 24 without situs inversus
Wolfram syndrome 1
An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.
DIDMOAD
WFS1
diabetes mellitus AND insipidus with optic atrophy AND deafness
Wolfram syndrome 2
An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.
WFS2
MIM:253900 and ORDO:1155 cross references have been obsoleted. See arthrogryposis multiplex congenita (DOID:0080954).
obsolete arthrogryposis due to muscular dystrophy
A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome.
congenital muscular dystrophy producing arthrogryposis
megaconial type congenital muscular dystrophy
A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.
congenital megaconial myopathy
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
congenital muscular dystrophy with mitochondrial structural abnormalities
megaconial congenital muscular dystrophy
rigid spine muscular dystrophy 1
A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.
Eichsfeld type congenital muscular dystrophy
MDRS1
RSMD1
RSS
SEPN1-related myopathy
classic MmD
classic multiminicore disease
classic multiminicore myopathy
congenital merosin-positive muscular dystrophy with early spine rigidity
congenital myopathy 3 with rigid spine
desmin-related myopathy with Mallory bodies
desmin-related myopathy with Mallory body-like inclusions
early-onset desmin-related myopathy
rigid spine syndrome
severe classic form minicore myopathy
severe classic form multicore myopathy
severe classic form multiminicore disease
congenital muscular dystrophy 1B
A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
CMD1B
MDC1B
congenital muscular dystrophy type 1B
muscular dystrophy-dystroglycanopathy type B5
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
FKRP-related congenital muscular dystrophy
MDC1C
MDDGB5
congenital muscular dystrophy 1C
muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
congenital merosin-deficient muscular dystrophy 1A
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
CMD1A
MDC1A
Merosin-negative congenital muscular dystrophy
congenital muscular dystrophy due to laminin alpha2 deficiency
muscular dystrophy-dystroglycanopathy type B6
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
MDC1D
MDDGB6
congenital muscular dystrophy LARGE-related
congenital muscular dystrophy type 1D
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Initially reported patients determined by original authors to have DOID:0110668 (see PMID:22884442).
obsolete congenital muscular dystrophy merosin-positive
A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3.
congenital myasthenic syndrome 10
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.
CMS10
LGM
congenital muscular dystrophy merosin-positive
familial limb-girdle myasthenia
congenital muscular dystrophy due to integrin alpha-7 deficiency
A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.
congenital muscular dystrophy with ITGA7 deficiency
congenital muscular dystrophy with integrin alpha-7 deficiency
congenital myopathy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to LMNA mutation
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
L-CMD
LMNA-related congenital muscular dystrophy
congenital muscular dystrophy LMNA-related
long QT syndrome 1
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.
LQT1
ventricular fibrillation with prolonged QT interval
long QT syndrome 2
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.
LQT2
long QT syndrome 3
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.
LQT3
long QT syndrome 5
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.
LQT5
long QT syndrome 6
A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.
LQT6
long QT syndrome 8
A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.
LQT8
long QT syndrome 9
A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3.
LQT9
long QT syndrome 10
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.
LQT10
long QT syndrome 11
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.
LQT11
long QT syndrome 12
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.
LQT12
long QT syndrome 13
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.
LQT13
long QT syndrome 14
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.
LQT14
long QT syndrome 15
A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.
LQT15
congenital myasthenic syndrome 8
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.
CMS8
congenital myasthenic syndrome 8 with pre- and postsynaptic defects
congenital myasthenic syndrome due to agrin deficiency
congenital myasthenic syndrome 15
A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
CMS15
congenital myasthenic syndrome 15 without tubular aggregates
congenital myasthenic syndrome 7
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
CMS7
congenital myasthenic syndrome 7 presynaptic
congenital myasthenic syndrome 12
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
CMS12
congenital myasthenia 12 with tubular aggregates
congenital myasthenic syndrome 20
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
CMS20
congenital myasthenic syndrome 20 presynaptic
congenital myasthenic syndrome 1B
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
CMS1B
congenital myasthenic syndrome 1B, fast-channel
congenital myasthenic syndrome 1A
A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
CMS IIa
CMS1A
congenital myasthenic syndrome 1A, slow-channel
congenital myasthenic syndrome type IIa
congenital myasthenic syndrome 3C
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
congenital myasthenic syndrome 3B
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
CMS3B
congenital myasthenic syndrome 3B, fast-channel
congenital myasthenic syndrome 3A
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
CMS3A
congenital myasthenic syndrome 3A, slow-channel
congenital myasthenic syndrome 5
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
CMS Ic
CMS5
EAD
Engel congenital myasthenic syndrome
congenital myasthenic syndrome Engel type
congenital myasthenic syndrome type Ic
end plate acetylcholinesterase deficiency
congenital myasthenic syndrome 14
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
CMS14
CMSTA3
congenital myasthenic syndrome 14, with tubular aggregates
congenital myasthenic syndrome with tubular aggregates 3
congenital myasthenic syndrome 9
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.
CMS9
congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
congenital myasthenic syndrome 6
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.
CMS Ia2
CMS1A2
CMS6
CMSEA
FIM
FIMG2
congenital myasthenic syndrome 6, presynaptic
congenital myasthenic syndrome type Ia2
congenital presynaptic myasthenic syndrome associated with episodic apnea
familial infantile myasthenia
familial infantile myasthenia gravis 2
congenital myasthenic syndrome 21
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
CMS21
congenital myasthenic syndrome 21, presynaptic
congenital myasthenic syndrome 19
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
CMS19
congenital myasthenic syndrome 17
A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
CMS17
congenital myasthenic syndrome 11
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
CMS Ie
CMS11
CMS1E
congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
congenital myasthenic syndrome 1e
congenital myasthenic syndrome 13
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
CMS13
CMSTA2
congenital myasthenic syndrome 13 with tubular aggregates
congenital myasthenic syndrome with tubular aggregates 2
congenital myasthenic syndrome 4B
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
CMS4B
congenital myasthenic syndrome 4B fast-channel
congenital myasthenic syndrome 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
CMS Ia1
CMS1A1
CMS4A
congenital myasthenic syndrome 4A slow-channel
congenital myasthenic syndrometype Ia1
congenital myasthenic syndrome 4C
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
CMS Id
CMS1D
CMS4C
FIM1
congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
congenital myasthenic syndrome type Id
familial infantile myasthenia 1
congenital myasthenic syndrome 2C
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
CMS2C
congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
congenital myasthenic syndrome 2A
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
CMS2A
congenital myasthenic syndrome 2A slow-channel
congenital myasthenic syndrome 16
A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.
CMS16
congenital myasthenic syndrome acetazolamide-responsive
developmental and epileptic encephalopathy 117
A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
CMS18
DEE117
congenital myasthenic syndrome 18
hypotrichosis 1
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22.
HHS
HTS
HYPT1
hereditary generalized hypotrichosis simplex
hypotrichosis 2
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33.
HTSS1
HYPT2
Spanish type hypotrichosis
hypotrichosis simplex of the scalp 1
hypotrichosis 3
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13.
HTSS2
HYPT3
hypotrichosis simplex of the scalp 2
hypotrichosis 4
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3.
HYPT4
Hypotrichosis, Marie Unna Type, 1
MUHH1
Marie Unna Hereditary Hypotrichosis 1
hypotrichosis 5
A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3.
HYPT5
MUHH2
Marie Unna Hereditary Hypotrichosis 2
hypotrichosis 6
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.
HYPT6
Hypotrichosis, Localized, Autosomal Recessive 1
LAH1
Monilethrix-like hypotrichosis
autosomal recessive localized hypotrichosis
hypotrichosis 7
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2.
HYPT7
LAH2
hypotrichosis, localized, autosomal recessive 2
total hyptrichosis, Mari type
hypotrichosis 8
A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2.
HYPT8
LAH3
hypotrichosis, localized, autosomal recessive 3
hypotrichosis 9
A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3.
HYPT9
hypotrichosis 10
A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3.
HYPT10
hypotrichosis 11
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1.
HYPT11
hypotrichosis 12
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2.
HYPT12
hypotrichosis 13
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13.
HYPT13
hypotrichosis with woolly hair
congenital hypotrichosis with juvenile macular dystrophy
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.
HJMD
hypotrichosis with cone-rod dystrophy
Oguchi disease-1
A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.
CSNBO1
congenital stationary night blindness Oguchi type 1
Oguchi disease-2
A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34.
CSNBO2
congenital stationary night blindness Oguchi type 2
congenital stationary night blindness 1G
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21.
CSNB1G
congenital stationary night blindness type 1G
congenital stationary night blindness autosomal dominant 3
A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
CSNBAD3
Nougaret type congenital stationary night blindness
Warburg micro syndrome 1
A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.
Micro Syndrome 1
WARBM1
Warburg micro syndrome 2
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
Micro Syndrome 2
WARBM2
Warburg micro syndrome 3
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.
Micro Syndrome 3
WARBM3
Warburg micro syndrome 4
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.
Micro Syndrome 4
WARBM4
neuronal ceroid lipofuscinosis 4
A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13.
CLN4B disease
autosomal dominant neuronal ceroid lipofuscinosis 4B
neuronal ceroid lipofuscinosis 4 Parry type
neuronal ceroid lipofuscinosis 4B
neuronal ceroid lipofuscinosis 1
A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
CLN1
neuronal ceroid lipofuscinosis 1 variable age of onset
neuronal ceroid lipofuscinosis 7
A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.
CLN7
personality disorder
A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
character disorder
neuronal ceroid lipofuscinosis 8
A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.
CLN8
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.
EPMR
northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant
progressive epilepsy with mental retardation, northern epilepsy
progressive epilepsy-intellectual disability syndrome, Finnish type
neuronal ceroid lipofuscinosis 10
A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
CLN10
Cathepsin D deficiency
neuronal ceroid lipofuscinosis cathepsin D-deficient
neuronal ceroid lipofuscinosis due to cathepsin D deficiency
neuronal ceroid lipofuscinosis 2
A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
CLN2
neuronal ceroid lipofuscinosis 2 variable age at onset
neuronal ceroid lipofuscinosis 13
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
CLN13
neuronal ceroid lipofuscinosis 13 Kufs type
neuronal ceroid lipofuscinosis 5
A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
CLN5
neuronal ceroid lipofuscinosis 5 variable age of onset
neuronal ceroid lipofuscinosis 6A
A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
CLN6
neuronal ceroid lipofuscinosis 6
neuronal ceroid lipofuscinosis 6 variable age of onset
neuronal ceroid lipofuscinosis 6B
A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
CLN4A
autosomal recessive neuronal ceroid lipofuscinosis 4A
neuronal ceroid lipofuscinosis 4A
neuronal ceroid lipofuscinosis 3
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
Batten disease
CLN3
juvenile neuronal ceroid lipofuscinosis
neuronal ceroid lipofuscinosis 11
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
CLN11
neuronal ceroid lipofuscinosis 9
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures.
CLN9
neurodegeneration with brain iron accumulation
A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
NBIA
neurodegeneration with brain iron accumulation 2a
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.
INAD1
Infantile Neuroaxonal Dystrophy 1
NBIA2a
Neurodegeneration, Pla2g6-Associated
Seitelberger Disease
neurodegeneration with brain iron accumulation 2b
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.
NBIA2b
Neuroaxonal Dystrophy, Atypical
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
neurodegeneration with brain iron accumulation 3
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
NBIA3
Neuroferritinopathy
Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
neurodegeneration with brain iron accumulation 4
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.
MPAN
Mitochondrial Protein-Associated Neurodegeneration
NBIA due to C19orf12 mutation
NBIA4
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation type 4
neurodegeneration with brain iron accumulation 5
A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23.
BPAN
Beta-Propeller Protein-Associated Neurodegeneration
NBIA5
SENDA
Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
neurodegeneration with brain iron accumulation 6
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.
COASY protein-associated neurodegeneration
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
type 1 diabetes mellitus 2
A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5.
IDDM2
Insulin-Dependent Diabetes Mellitus 2
type 1 diabetes mellitus 3
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26.
IDDM3
Insulin-Dependent Diabetes Mellitus 3
type 1 diabetes mellitus 4
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13.
IDDM4
Insulin-Dependent Diabetes Mellitus 4
type 1 diabetes mellitus 5
A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1.
IDDM5
Insulin-Dependent Diabetes Mellitus 5
type 1 diabetes mellitus 6
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21.
IDDM6
Insulin-Dependent Diabetes Mellitus 6
type 1 diabetes mellitus 7
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31.
IDDM7
Insulin-Dependent Diabetes Mellitus 7
type 1 diabetes mellitus 8
A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27.
IDDM8
Insulin-Dependent Diabetes Mellitus 8
not in OMIM, missed that I shouldn't have added this one - Sue
obsolete type 1 diabetes mellitus 9
IDDM9
Insulin-Dependent Diabetes Mellitus 9
type 1 diabetes mellitus 10
A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1.
IDDM10
Insulin-Dependent Diabetes Mellitus 10
type 1 diabetes mellitus 11
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31.
IDDM11
Insulin-Dependent Diabetes Mellitus 11
type 1 diabetes mellitus 12
A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2.
IDDM12
Insulin-Dependent Diabetes Mellitus 12
type 1 diabetes mellitus 13
A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34.
IDDM13
Insulin-Dependent Diabetes Mellitus 13
type 1 diabetes mellitus 15
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21.
IDDM15
Insulin-Dependent Diabetes Mellitus 15
type 1 diabetes mellitus 17
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25.
IDDM17
Insulin-Dependent Diabetes Mellitus 17
type 1 diabetes mellitus 18
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1.
IDDM18
Insulin-Dependent Diabetes Mellitus 18
type 1 diabetes mellitus 19
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3.
IDDM19
Insulin-Dependent Diabetes Mellitus 19
type 1 diabetes mellitus 20
A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31.
IDDM20
Insulin-Dependent Diabetes Mellitus 20
type 1 diabetes mellitus 21
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25.
IDDM21
Insulin-Dependent Diabetes Mellitus 21
type 1 diabetes mellitus 22
A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31.
IDDM22
Insulin-Dependent Diabetes Mellitus 22
type 1 diabetes mellitus 23
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27.
IDDM23
Insulin-Dependent Diabetes Mellitus 23
type 1 diabetes mellitus 24
A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31.
IDDM24
Insulin-Dependent Diabetes Mellitus 24
obsolete hereditary spastic paraplegia 1
hereditary spastic paraplegia 10
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13.
SPG10
autosomal dominant spastic paraplegia 10
autosomal dominant spastic paraplegia type 10
hereditary spastic paraplegia 11
A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
HSP-TCC
Nakamura-Osame syndrome
SPG11
autosomal recessive spastic paraplegia 11
autosomal recessive spastic paraplegia complicated with thin corpus callosum
autosomal recessive spastic paraplegia type 11
autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum
spastic paraplegia-intellectual disability-thin corpus callosum syndrome
hereditary spastic paraplegia 12
A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.
SPG12
autosomal dominant spastic paraplegia 12
autosomal dominant spastic paraplegia type 12
hereditary spastic paraplegia 13
A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33.
SPG13
autosomal dominant spastic paraplegia 13
hereditary spastic paraplegia 14
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28.
SPG14
autosomal recessive spastic paraplegia 14
autosomal recessive spastic paraplegia type 14
hereditary spastic paraplegia 15
A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1.
Kjellin syndrome
SPG15
autosomal recessive spastic paraplegia 15
autosomal recessive spastic paraplegia type 15
hereditary spastic paraparesis type 15
spastic paraplegia and retinal degeneration
spastic paraplegia-retinal degeneration syndrome
hereditary spastic paraplegia 16
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2.
SPG16
X-linked spastic paraplegia 16
X-linked spastic paraplegia type 16
hereditary spastic paraplegia 17
A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.
SPG17
Silver spastic paraplegia syndrome
Silver syndrome
autosomal dominant spastic paraplegia 17
autosomal dominant spastic paraplegia type 17
dHMN5B
distal hereditary motor neuropathy type 5B
spastic paraplegia with amyotrophy of hands and feet
spastic paraplegia-amyotrophy of hands and feet
hereditary spastic paraplegia 19
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q.
SPG19
autosomal dominant spastic paraplegia 19
autosomal dominant spastic paraplegia type 19
hereditary spastic paraplegia 2
A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2.
SPG2
X-linked spastic paraplegia 2
spastic paraplegia type 2
hereditary spastic paraplegia 23
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.
Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
spastic paraplegia 23
spastic paraplegia with pigmentary abnormalities
hereditary spastic paraplegia 24
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14.
SPG24
autosomal recessive spastic paraplegia 24
autosomal recessive spastic paraplegia type 24
hereditary spastic paraplegia 25
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1.
SPG25
autosomal recessive spastic paraplegia 25
autosomal recessive spastic paraplegia type 25
hereditary spastic paraplegia 26
A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
GM2 synthase deficiency
SPG26
autosomal recessive spastic paraplegia 26
autosomal recessive spastic paraplegia type 26
hereditary spastic paraplegia 27
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1.
SPG27
autosomal recessive spastic paraplegia 27
autosomal recessive spastic paraplegia type 27
hereditary spastic paraplegia 28
A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.
SPG28
autosomal recessive spastic paraplegia 28
autosomal recessive spastic paraplegia type 28
hereditary spastic paraplegia 29
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1.
SPG29
autosomal dominant spastic paraplegia 29
hereditary spastic paraplegia 31
A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.
SPG31
autosomal dominant spastic paraplegia 31
autosomal dominant spastic paraplegia type 31
hereditary spastic paraplegia 32
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21.
SPG32
autosomal recessive spastic paraplegia 32
autosomal recessive spastic paraplegia type 32
hereditary spastic paraplegia 33
A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24.
SPG33
autosomal dominant spastic paraplegia 33
hereditary spastic paraplegia 34
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25.
SPG34
X-linked spastic paraplegia 34
X-linked spastic paraplegia type 34
hereditary spastic paraplegia 35
A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.
FAHN
SPG35
autosomal recessive spastic paraplegia 35
autosomal recessive spastic paraplegia type 35
fatty acid hydroxylase-associated neurodegeneration
leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia
hereditary spastic paraplegia 36
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24.
SPG36
autosomal dominant spastic paraplegia 36
autosomal dominant spastic paraplegia type 36
hereditary spastic paraplegia 37
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3.
SPG37
autosomal dominant spastic paraplegia 37
autosomal dominant spastic paraplegia type 37
hereditary spastic paraplegia 38
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15.
SPG38
autosomal dominant spastic paraplegia 38
autosomal dominant spastic paraplegia type 38
hereditary spastic paraplegia 39
A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
NTE-related motor neuron disorder
NTEMND
SPG39
autosomal recessive spastic paraplegia 39
autosomal recessive spastic paraplegia type 39
spastic paraplegia due to NTE mutation
spastic paraplegia due to neuropathy target esterase mutation
hereditary spastic paraplegia 3A
A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22.
FSP1
SPG3A
autosomal dominant familial spastic paraplegia 1
autosomal dominant spastic paraplegia 3
autosomal dominant spastic paraplegia type 3
strumpell disease
hereditary spastic paraplegia 4
A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.
SPG4
autosomal dominant spastic paraplegia 4
autosomal dominant spastic paraplegia type 4
hereditary spastic paraplegia 41
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2.
SPG41
autosomal dominant spastic paraplegia 41
autosomal dominant spastic paraplegia type 41
hereditary spastic paraplegia 42
A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.
SPG42
autosomal dominant spastic paraplegia 42
autosomal dominant spastic paraplegia type 42
hereditary spastic paraplegia 43
A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.
SPG43
autosomal recessive spastic paraplegia 43
autosomal recessive spastic paraplegia type 43
hereditary spastic paraplegia 44
A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
SPG44
autosomal recessive spastic paraplegia 44
hereditary spastic paraplegia 45
A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.
SPG45
SPG65
autosomal recessive spastic paraplegia 45
autosomal recessive spastic paraplegia type 45
autosomal recessive spastic paraplegia type 65
hereditary spastic paraplegia 46
A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.
SPG46
autosomal recessive spastic paraplegia 46
autosomal recessive spastic paraplegia type 46
hereditary spastic paraplegia 47
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
CPSQ5
SPG47
autosomal recessive spastic paraplegia 47
spastic quadriplegic cerebral palsy 5
hereditary spastic paraplegia 48
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.
SPG48
autosomal recessive spastic paraplegia 48
autosomal recessive spastic paraplegia type 48
hereditary sensory and autonomic neuropathy type 9
A hereditary sensory and autonomic neuropathy characterized by global developmental delay, intellectual disability, hypotonia, dysarthria, abnormal gait, hyporeflexia, and central hypoventilation or apnea that has_material_basis_in homozygous or compound heterozygous mutation in the TECPR2 gene on chromosome 14q32. Additional symptoms due to peripheral neuropathy or autonomic dysfunction are more variable.
HSAN9
SPG49
TECPR2-related hereditary sensory and autonomic neuropathy
autosomal recessive spastic paraplegia 49
hereditary sensory and autonomic neuropathy type IX
hereditary spastic paraplegia 50
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
AP-4 deficiency syndrome
AP-4-Associated Hereditary Spastic Paraplegia
SPG50
adaptor protein complex 4 deficiency
autosomal recessive spastic paraplegia 50
hereditary spastic paraplegia 51
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.
CPSQ4
SPG51
autosomal dominant spastic paraplegia 51
spastic quadriplegic cerebral palsy 4
hereditary spastic paraplegia 52
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.
CPSQ6
SPG52
autosomal recessive spastic paraplegia 52
spastic quadriplegic cerebral palsy 6
hereditary spastic paraplegia 53
A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.
SPG53
autosomal recessive spastic paraplegia 53
autosomal recessive spastic paraplegia type 53
hereditary spastic paraplegia 54
A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.
SPG54
autosomal recessive spastic paraplegia 54
autosomal recessive spastic paraplegia type 54
hereditary spastic paraplegia 55
A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24.
SPG55
autosomal recessive spastic paraplegia 55
autosomal recessive spastic paraplegia type 55
hereditary spastic paraplegia 56
A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
SPG56
autosomal recessive spastic paraplegia 56
autosomal recessive spastic paraplegia type 56
hereditary spastic paraplegia 57
A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12.
SPG57
autosomal recessive spastic paraplegia 57
autosomal recessive spastic paraplegia type 57
hereditary spastic paraplegia 5A
A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
SPG5A
autosomal recessive spastic paraplegia 5A
autosomal recessive spastic paraplegia type 5A
hereditary spastic paraplegia 6
A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.
FSP3
SPG6
autosomal dominant familial spastic paraplegia type 3
autosomal dominant spastic paraplegia 6
autosomal dominant spastic paraplegia type 6
hereditary spastic paraplegia 61
A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12.
SPG61
autosomal recessive spastic paraplegia 61
autosomal recessive spastic paraplegia type 61
hereditary spastic paraplegia 62
A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24.
SPG62
autosomal recessive spastic paraplegia 62
autosomal recessive spastic paraplegia type 62
hereditary spastic paraplegia 63
A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.
SPG63
autosomal recessive spastic paraplegia 63
spastic paraplegia 63
hereditary spastic paraplegia 64
A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.
SPG64
autosomal recessive spastic paraplegia 64
autosomal recessive spastic paraplegia type 64
hereditary spastic paraplegia 7
A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24.
SPG7
autosomal recessive spastic paraplegia 7
spastic paraplegia type 7
hereditary spastic paraplegia 72A
A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2.
SPG72
hereditary spastic paraplegia 73
A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13.
SPG73
autosomal dominant spastic paraplegia 73
autosomal dominant spastic paraplegia type 73
hereditary spastic paraplegia 74
A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42.
SPG74
autosomal recessive spastic paraplegia 74
hereditary spastic paraplegia 75
A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.
SPG75
autosomal recessive spastic paraplegia 75
autosomal recessive spastic paraplegia type 75
hereditary spastic paraplegia 76
A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.
SPG76
autosomal recessive spastic paraplegia 76
hereditary spastic paraplegia 77
A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25.
SPG77
autosomal recessive spastic paraplegia 77
hereditary spastic paraplegia 8
A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24.
SPG8
autosomal dominant spastic paraplegia 8
autosomal dominant spastic paraplegia type 8
hereditary spastic paraplegia 9A
A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
AD-SPG9A
Cataracts motor neuropathy-short stature-skeletal anomalies syndrome
SPG9A
autosomal dominant complex spastic paraplegia type 9A
autosomal dominant spastic paraplegia 9A
cataracts with motor neuronopathy, short stature and skeletal abnormalities
spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux
spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
hereditary spastic paraplegia 9B
A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
SPG9B
autosomal recessive complex spastic paraplegia type 9B
autosomal recessive spastic paraplegia 9B
Usher syndrome type 2
An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
USH2
Usher syndrome type 3
An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.
USH3
Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb.
retinitis pigmentosa-deafness syndrome
An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.
Usher syndrome type 1C
An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.
USH1C
Usher syndrome type I Acadian variety
Usher syndrome type IC
Usher syndrome type 1D
An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.
USH1D
Usher syndrome type ID
Usher syndrome type 1F
An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.
USH1F
Usher syndrome type IF
Usher syndrome type 1E
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21.
USH1E
Usher syndrome type IE
Usher syndrome type 1G
An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25.
USH1G
Usher syndrome type IG
Usher syndrome type 1H
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23.
USH1H
Usher syndrome type IH
Literature documentation in OMIM for reclassification[LS]
obsolete Usher syndrome type 1J
An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.
USH1J
Usher syndrome type IJ
Usher syndrome type 1K
An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1.
USH1K
Usher syndrome type IK
Usher syndrome type 2A
An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.
USH2A
Usher syndrome type IIA
Usher syndrome type 2C
An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.
USH2C
Usher syndrome IIC
Usher syndrome type IIC
Usher syndrome type 2D
An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32.
USH2D
Usher syndrome type IID
Usher syndrome type 3A
An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.
USH3A
Usher syndrome type IIIA
Usher syndrome type 3B
An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31.
USH3B
Usher syndrome type IIIB
xeroderma pigmentosum group A
A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.
XP group A
XP1
XPA
xeroderma pigmentosum 1
xeroderma pigmentosum complementation group A
xeroderma pigmentosum group C
A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25.
XP group C
XP3
XPC
XPCC
xeroderma pigmentosum III
xeroderma pigmentosum group D
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
XP group D
XP group H
XP4
XP8
XPD
XPDC
XPH
xeroderma pigmentosum IV
xeroderma pigmentosum VIII
xeroderma pigmentosum group E
A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
XP group E
XP5
XPE
xeroderma pigmentosum V
xeroderma pigmentosum variant type
A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.
XPV
photosensitivity with defective DNA synthesis
xeroderma pigmentosum with normal DNA repair rates
xeroderma pigmentosum group F
A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
XP group F
XP6
XPF
xeroderma pigmentosum VI
xeroderma pigmentosum group G
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.
XP group G
XP7
XPG
xeroderma pigmentosum VII
xeroderma pigmentosum group B
A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14.
XP group B
XPB
XPBC
rhizomelic chondrodysplasia punctata type 1
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.
PBD9
Peroxisome Biogenesis Disorder 9
RCDP1
rhizomelic chondrodysplasia punctata type 2
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
DHAPAT deficiency
Dihydroxyacetonephosphate Acyltransferase Deficiency
GNPAT deficiency
Glyceronephosphate O-Acyltransferase Deficiency
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
RCDP2
rhizomelic chondrodysplasia punctata type 3
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
AGPS deficiency
Alkyldihydroxyacetonephosphate Synthase Deficiency
Alkylglycerone-Phosphate Synthase Deficiency
RCDP3
rhizomelic chondrodysplasia punctata type 5
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
RCDP5
posterior polymorphous corneal dystrophy 1
A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
CHED1
Corneal Endothelial Dystrophy 1, Autosomal Dominant
Maumenee Corneal Dystrophy
PPCD1
posterior polymorphous corneal dystrophy 2
A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.
PPCD2
posterior polymorphous corneal dystrophy 3
A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22.
PPCD3
polycystic kidney disease 1
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.
APKD1
PKD1
Polycystic Kidney Disease, Adult, Type I
polycystic kidney disease 2
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.
APKD2
PKD2
Polycystic Kidney Disease, Adult, Type II
polycystic kidney disease 3
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.
APKD3
PKD3
Polycystic Kidney Disease, Adult, Type III
congenital stationary night blindness autosomal dominant 1
A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.
CSNBAD1
rhodopsin-related congenital stationary night blindness
congenital stationary night blindness autosomal dominant 2
A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.
CSNBAD2
Rambusch type congenital stationary night blindness
congenital stationary night blindness 1F
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.
CSNB1F
congenital stationary night blindness 1F autosomal recessive
congenital stationary night blindness 1B
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35.
CSNB1B
autosomal recessive complete congenital stationary night blindness
congenital stationary night blindness 1B autosomal recessive
congenital stationary night blindness 1H
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.
CSNB1H
congenital stationary night blindness type 1H
congenital stationary night blindness 1C
A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.
CSNB1C
congenital stationary night blindness 1C autosomal recessive
congenital stationary night blindness 1D
A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22.
CSNB1D
congenital stationary night blindness 1D autosomal recessive
congenital stationary night blindness 1E
A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.
CSNB1E
congenital stationary night blindness 1E autosomal recessive
congenital stationary night blindness 1A
A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
CSNB1A
NBMI
complete CSNB X-linked
congenital stationary night blindness 1A X-linked
congenital stationary night blindness with myopia
hemeralopia-myopia
myopia-night blindness
congenital stationary night blindness 2A
A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.
congenital stationary night blindness 2A X-linked
holoprosencephaly 2
A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.
HPE2
holoprosencephaly 9
A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
HPE9
holoprosencephaly with microphthalmia and first branchial arch anomalies
pituitary anomalies with holoprosencephaly-like features
holoprosencephaly 6
A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3.
HPE6
holoprosencephaly 3
A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.
HLP3
HPE3
holoprosencephaly 7
A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
HPE7
holoprosencephaly 11
A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24.
HPE11
holoprosencephaly 5
A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32.
HPE5
holoprosencephaly 8
A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13.
HPE8
holoprosencephaly 4
A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11.
HPE4
holoprosencephaly 1
A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.
HPE1
inflammatory bowel disease 7
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36.
IBD7
inflammatory bowel disease 17
An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3.
IBD17
inflammatory bowel disease 23
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1.
IBD23
inflammatory bowel disease 10
An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37.
IBD10
inflammatory bowel disease (Crohn disease) 10
inflammatory bowel disease 9
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26.
IBD9
inflammatory bowel disease 12
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3.
IBD12
inflammatory bowel disease 18
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1.
IBD18
inflammatory bowel disease 5
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31.
IBD5
inflammatory bowel disease 19
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1.
IBD19
inflammatory bowel disease (Crohn disease) 19
inflammatory bowel disease 3
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3.
IBD3
inflammatory bowel disease 1
An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1.
IBD1
inflammatory bowel disease 13
An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1.
IBD13
inflammatory bowel disease 11
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22.
IBD11
inflammatory bowel disease 14
An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32.
IBD14
inflammatory bowel disease 16
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32.
IBD16
inflammatory bowel disease 15
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21.
IBD15
inflammatory bowel disease 20
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24.
IBD20
inflammatory bowel disease 28
An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23.
IBD28
early onset autosomal recessive inflammatory bowel disease 28
inflammatory bowel disease 2
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1.
IBD2
inflammatory bowel disease 26
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15.
IBD26
inflammatory bowel disease 27
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3.
IBD27
inflammatory bowel disease 4
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12.
IBD4
inflammatory bowel disease 8
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p.
IBD8
inflammatory bowel disease 22
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2.
IBD22
inflammatory bowel disease 21
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11.
IBD21
inflammatory bowel disease 6
An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13.
IBD6
inflammatory bowel disease 24
An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13.
IBD24
inflammatory bowel disease 25
An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22.
IBD25
early onset autosomal recessive inflammatory bowel disease 25
leukocyte adhesion deficiency 1
A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.
LAD1
LFA1 immunodeficiency
leukocyte adhesion deficiency type I
lymphocyte function-associated antigen 1 immunodeficiency
leukocyte adhesion deficiency 3
A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.
IADD
LAD1 variant
LAD1V
LAD3
integrin activation deficiency disease
leukocyte adhesion deficiency 1 variant
leukocyte adhesion deficiency type III
adult hypophosphatasia
A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.
mild hypophosphatasia
hypophosphatasia
A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
deficiency of alkaline phosphatase
infantile hypophosphatasia
A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
HOPS
HPPI
phosphoethanolaminuria
childhood hypophosphatasia
A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12.
hereditary spherocytosis type 1
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.
HS1
SPH1
hereditary spherocytosis 1
hereditary spherocytosis
A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
Congenital spherocytic hemolytic anemia
Minkowski Chauffard syndrome
spherocytic anemia
hereditary spherocytosis type 2
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3.
HS2
SPH2
hereditary spherocytosis 2
hereditary spherocytosis type 3
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1.
HS3
SPH3
hereditary spherocytosis 3
hereditary spherocytosis type 4
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31.
HS4
SPH4
hereditary spherocytosis 4
hereditary spherocytosis type 5
A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2.
HS5
SPH5
hereditary spherocytosis 5
familial hemophagocytic lymphohistiocytosis 1
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.
FHL1
HLH1
HPLH1
familial hemophagocytic lymphohistiocytosis 2
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.
FHL2
HLH2
HPLH2
familial hemophagocytic lymphohistiocytosis 3
A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1.
FHL3
HLH3
HPLH3
familial hemophagocytic lymphohistiocytosis 4
A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2.
FHL4
HLH4
HPLH4
familial hemophagocytic lymphohistiocytosis 5
A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.
FHL5
HLH5
HPLH5
congenital myopathy 4B
A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21.
NEM1
autosomal recessive congenital myopathy 4B
nemaline myopathy 1
nemaline myopathy 1, autosomal dominant or recessive
nemaline myopathy 3
A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
NEM3
autosomal dominant typical congenital myopathy 2A
congenital myopathy 2A
nemaline myopathy 3, autosomal dominant or recessive
nemaline myopathy 2
A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
NEM2
congenital myopathy 2
nemaline myopathy 2, autosomal recessive
nemaline myopathy 9
A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.
NEM9
nemaline myopathy 8
A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.
NEM8
nemaline myopathy 8, autosomal recessive
nemaline myopathy 10
A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
NEM10
congenital myopathy 10
congenital myopathy 23
A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
CAP myopathy 2
NEM4
nemaline myopathy 4
nemaline myopathy 4, autosomal dominant
nemaline myopathy 11
A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
NEM11
congenital myopathy 24
nemaline myopathy 11, autosomal recessive
nemaline myopathy 7
A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
NEM7
nemaline myopathy 7, autosomal recessive
nemaline myopathy 6
A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.
nemaline myopathy 6, autosomal dominant
nemaline myopathy 5A
A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.
ANM
Amish nemaline myopathy
NEM5
nemaline myopathy 5, Amish type
autosomal dominant osteopetrosis 1
An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.
OPTA1
autosomal dominant osteopetrosis type 1
osteopetrosis
An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Albers-Schonberg disease
marble bone
autosomal dominant osteopetrosis 2
An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
Albers-Schonberg osteopetrosis
OPTA2
autosomal dominant Albers-Schonberg disease
autosomal dominant osteopetrosis type II
osteopetrosis autosomal dominant type 2
autosomal recessive osteopetrosis 5
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
OPTB5
infantile malignant osteopetrosis 3
autosomal recessive osteopetrosis 8
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
OPTB8
autosomal recessive osteopetrosis 3
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
Guibaud-Vainsel syndrome
OPTB3
autosomal recessive osteopetrosis 3 with renal tubular acidosis
carbonic anhydrase II deficiency
marble brain disease
osteopetrosis with renal tubular acidosis
autosomal recessive osteopetrosis 1
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.
OPTB1
autosomal recessive Albers-Schonberg disease
infantile malignant osteopetrosis 1
autosomal recessive osteopetrosis 2
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
OPTB2
mild autosomal recessive form osteopetrosis
osteoclast-poor osteopetrosis
autosomal recessive osteopetrosis 4
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
OPTB4
infantile malignant osteopetrosis 2
autosomal recessive osteopetrosis 6
An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
OPTB6
autosomal recessive osteopetrosis intermediate form
autosomal recessive osteopetrosis 7
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
OPTB7
autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
autosomal recessive osteopetrosis type 7
osteoclast-poor osteopetrosis with hypogammaglobulinemia
osteopetrosis-hypogammaglobulinemia syndrome
Waardenburg syndrome type 2B
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3.
WS2B
Waardenburg syndrome type IIB
Waardenburg syndrome
A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Waardenburg Shah syndrome
Waardenburg's syndrome
van der Hoeve Halbertsona Waardenburg syndrome
Waardenburg, types I and/or II
Waardenburg syndrome type 1
A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
WS1
Waardenburg syndrome type I
Waardenburg syndrome type 3
A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.
Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with upper limb anomalies
Waardenburg syndrome type 2A
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.
WS2A
Waardenburg syndrome type IIA
Waardenburg syndrome type 2C
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23.
WS2C
Waardenburg syndrome type IIC
Obsoleted because the relevant SNAI2 variant has been reclassified as a variant of unknown significance (see PMID:32975012).
obsolete Waardenburg syndrome type 2D
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11.
WS2D
Waardenburg syndrome type IID
Waardenburg syndrome type 4A
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.
WS4A
Waardenburg syndrome type IVA
Waardenburg syndrome with Hirschsprung disease type 4A
Waardenburg syndrome type 4B
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.
WS4B
Waardenburg syndrome type IVB
Waardenburg syndrome with Hirschsprung disease type 4B
Waardenburg syndrome type 4C
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.
WS4C
Waardenburg syndrome type IVC
Waardenburg syndrome with Hirschsprung disease type 4C
Waardenburg syndrome type 2E
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.
WS2E
WS2E with or without neurological involvement
Waardenburg syndrome type 2E with or without neurologic involvement
Waardenburg syndrome type IIE
hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
Gaucher's disease type I
A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
Acid Beta-Glucosidase Deficiency
GD I
GD1
Gaucher Disease, Noncerebral Juvenile
Gba Deficiency
Glucocerebrosidase Deficiency
Gaucher's disease
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Gaucher disease
acid beta-glucosidase deficiency
glocucerebrosidase deficiency
glucosylceramide beta-glucosidase deficiency
kerasin thesaurismosis
Gaucher's disease type II
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
GD II
GD2
Gaucher Disease, Acute Neuronopathic Type
Infantile Cerebral Gaucher Disease
Gaucher's disease type III
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
GD III
Gaucher Disease, Chronic Neuronopathic Type
Gaucher Disease, Juvenile And Adult, Cerebral
Gaucher Disease, Subacute Neuronopathic Type
Gaucher's disease perinatal lethal
A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
Fetal Gaucher Disease
Gaucher Disease, Collodion Type
atypical Gaucher's disease due to saposin c deficiency
A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
brachydactyly-preaxial hallux varus syndrome
A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges.
Christian brachydactyly
preaxial brachydactyly with hallux varus and thumb abduction
Ballard syndrome
A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature.
Ballard type brachydactyly
Pitt-Williams brachydactyly
brachydactyly types B and E combined
brachydactyly type A1
A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.
BDA1
Farabee type brachydactyly
brachydactyly type A2
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
BDA2
Mohr-Wriedt type brachydactyly
brachymesophalangy II
brachydactyly type A3
A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger.
BDA3
brachydactyly-clinodactyly
brachymesophalangy V
brachydactyly type A4
A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus.
BDA4
Temtamy type brachydactyly
brachymesophalangy II and V
brachydactyly type A6
A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.
BDA6
Osebold-Remondini syndrome
brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities
brachydactyly type B1
A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.
BDB1
brachydactyly type C
A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
BDC
brachydactyly type D
A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.
BDD
brachydactyly type E1
A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
BDE1
Mononen-Karnes-Senac syndrome
A brachydactyly characterized by short, abducted thumbs and great toes.
Mononen type brachydactyly
short and abducted thumbs and great toes
brachydactyly type A1B
A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.
BDA1B
brachydactyly type B2
A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.
BDB2
brachydactyly type E2
A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
BDE2
brachydactyly type A1C
A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.
BDA1C
brachydactyly type A1D
A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22.
BDA1D
Sugarman brachydactyly
A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position.
brachydactyly with major proximal phalangeal shortening
Joubert syndrome 1
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
CORS1
CPD4
JBTS1
cerebellooculorenal syndrome 1
cerebelloparenchymal disorder IV
Joubert syndrome 10
A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.
JBTS10
Joubert syndrome 13
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
JBTS13
Joubert syndrome 14
A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.
JBTS14
Joubert syndrome 15
A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
JBTS15
Joubert syndrome 16
A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
JBTS16
Joubert syndrome 17
A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
JBTS17
Joubert syndrome 18
A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24.
JBTS18
Joubert syndrome 2
A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.
CORS2
JBTS2
cerebellooculorenal syndrome 2
Joubert syndrome 20
A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
JBTS20
Joubert syndrome 21
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.
JBTS21
Joubert syndrome 22
A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.
JBTS22
Joubert syndrome 23
A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.
JBTS23
Joubert syndrome 24
A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.
JBTS24
Joubert syndrome 25
A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
JBTS25
Joubert syndrome 26
A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12.
JBTS26
Joubert syndrome 27
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.
JBTS27
Joubert syndrome 28
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
JBTS28
Joubert syndrome 3
A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.
JBTS3
Joubert syndrome 4
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
JBTS4
Joubert syndrome 5
A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
JBTS5
Joubert syndrome 6
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.
JBTS6
Joubert syndrome 7
A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
JBTS7
Joubert syndrome 8
A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.
JBTS8
Joubert syndrome 9
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
JBTS9
cone-rod dystrophy 2
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.
CORD2
CRD2
RCRD2
cone-rod retinal dystrophy 2
retinal cone-rod dystrophy 2
X-linked cone-rod dystrophy 2
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27.
COD2
CORDX2
X-linked cone dystrophy 2
X-linked cone-rod dystrophy 3
A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.
CORDX3
X-linked cone-rod dystrophy 1
A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.
COD1
CORDX1
X-linked cone dystrophy 1
cone-rod dystrophy 1
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3.
CORD1
CRD1
cone-rod dystrophy 5
A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.
CORD5
cone-rod dystrophy 6
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.
CORD6
RCD2
retinal cone dystrophy 2
cone-rod dystrophy 7
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13.
CORD7
cone-rod dystrophy 3
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.
CORD3
cone-rod dystrophy 8
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24.
CORD8
Newfoundland cone-rod dystrophy
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.
NFRCD
cone-rod dystrophy 13
A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2.
CORD13
cone-rod dystrophy 10
A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.
CORD10
cone-rod dystrophy 11
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13.
CORD11
cone-rod dystrophy 12
A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.
CORD12
cone-rod dystrophy 9
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.
CORD9
cone-rod dystrophy 15
A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.
CORD15
cone-rod dystrophy 16
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.
CORD16
retinal dystrophy with early macular involvement
cone-rod dystrophy 17
A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26.
CORD17
cone-rod dystrophy 18
A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15.
CORD18
cone-rod dystrophy 19
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.
CORD19
cone-rod dystrophy 20
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.
CORD20
hemochromatosis type 2A
A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.
HFE2A
hemochromatosis type 2
A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.
HFE2
JHH
juvenile hemochromatosis
hemochromatosis type 4
A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
HFE4
autosomal dominant hereditary hemochromatosis
ferroportin disease
hemochromatosis due to defect in ferroportin
hemochromatosis
A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
Haemochromatosis
diabetes bronze
iron storage disorder
hemochromatosis type 1
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
HFE1
symptomatic form of HFE-related hereditary hemochromatosis
symptomatic form of classic hemochromatosis
symptomatic form of hemochromatosis type 1
hemochromatosis type 3
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.
HFE3
TFR2-related hemochromatosis
hemochromatosis due to defect in transferrin receptor 2
hemochromatosis type 5
A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12.
FTH1-associated iron overload
FTH1-related iron overload
HFE5
hemochromatosis type 2B
A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.
HFE2B
African iron overload
A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.
Bantu siderosis
iron overload in Africa
arthropathy
A bone disease that is located_in the joint.
Ankylosis of joint of ankle and/or foot
Ankylosis of joint of forearm
Ankylosis of joint of hand
Ankylosis of joint of lower leg
Ankylosis of joint of upper arm
Ankylosis of multiple joints
Infectious arthropathy
Joint ankylosis of the ankle and foot
Joint ankylosis of the ankle and/or foot
Joint ankylosis of the forearm
Joint ankylosis of the hand
Joint ankylosis of the lower leg
Joint ankylosis of the pelvic region and thigh
Joint ankylosis of the shoulder region
Joint ankylosis of the upper arm
ankylosis of ankle and foot joint
ankylosis of forearm joint
ankylosis of hand joint
ankylosis of joint of multiple sites
ankylosis of joint of pelvic region and thigh
ankylosis of joint of shoulder region
ankylosis of lower leg joint
ankylosis of upper arm joint
liver cirrhosis
Cirrhosis
cirrhosis of liver
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
CADASIL 1
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26.
CADASIL 2
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2
glycine N-methyltransferase deficiency
A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.
GNMT deficiency
hypermethioninemia due to GNMT deficiency
hypermethioninemia due to glycine N-methyltransferase deficiency
hypermethioninemia due to adenosine kinase deficiency
A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.
ADK hypermethioninemia
MRT8
autosomal recessive mental retardation 8
hypermethioninemia encephalopathy due to ADK deficiency
hypermethioninemia encephalopathy due to adenosine kinase deficiency
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.
hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
glycogen storage disease IXd
A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.
GSD IXd
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
GSD9D
X-linked muscke glycogenosis
glycogen storage disease due to muscle phosphorylase kinase deficiency
glycogen storage disease type 9D
glycogen storage disease type 9E
glycogen storage disease type IXd
glycogen storage disease type IXe
glycogenosis due to muscle phosphorylase kinase deficiency
glycogenosis type 9D
glycogenosis type 9E
glycogenosis type IXd
glycogenosis type IXe
muscle phosphorylase kinase deficiency
glycogen storage disease IXb
A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
GSD IXb
GSD due to liver and muscle phosphorylase kinase deficiency
GSD type 9B
GSD type IXb
GSD9B
glycogen storage disease type 9B
glycogen storage disease type IXb
glycogenosis due to liver and muscle phosphorylase kinase deficiency
glycogenosis type 9B
glycogenosis type IXb
glycogen storage disease IXa1
A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.
GSD type 9A
GSD type IXa
GSD9A
glycogen storage disease IXa
glycogen storage disease IXa2
glycogen storage disease type 9A
glycogenosis type 9A
glycogenosis type IXa
glycogen storage disease IXc
A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
GSD type 9C
GSD type IXc
GSD9C
glycogen storage disease type 9C
glycogen storage disease type IXc
glycogenosis type 9C
glycogenosis type IXc
gray platelet syndrome
A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
BDPLT4
GPS
platelet alpha-granule deficiency
platelet-type bleeding disorder 4
platelet-type bleeding disorder 9
A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.
BDPLT9
GP Ia deficiency
collagen platelet receptor deficiency
glycoprotein Ia deficiency
platelet-type bleeding disorder 10
A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.
BDPLT10
CD36 deficiency
platelet glycoprotein IV deficiency
platelet-type bleeding disorder 14
A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.
BDPLT14
thromboxane synthase deficiency
platelet-type bleeding disorder 19
A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.
BDPLT19
severe autosomal recessive macrothrombocytopenia
platelet-type bleeding disorder 17
A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
BDPLT17
hereditary thrombasthenia-thrombocytopenia
Quebec platelet disorder
A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.
BDPLT5
factor V Quebec
platelet-type bleeding disorder 5
platelet-type bleeding disorder 18
A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
BDPLT18
bleeding disorder due to CalDAG-GEFI deficiency
bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Scott syndrome
A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.
BDPLT7
SCTS
bleeding abnormality due to deficiency of platelet biding of factor X
familial prothrombin consumption inhibitor
familial prothrombin conversion defect
platelet-type bleeding disorder 7
prothrombin consumption deficiency
platelet-type bleeding disorder 15
A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.
BDPLT15
autosomal dominant macrothrombocytopenia ACTN1-related
von Willebrand's disease 3
A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
VWD type 3
VWD3
von Willebrand disease type 3
von Willebrand disease type III
platelet-type bleeding disorder 20
A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
BDPLT20
autosomal dominant thrombocytopenia with platelet secretion defect
platelet-type bleeding disorder 3
A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.
BDPLT3
PT-VWD
platelet type-von Willebrand disease
pseudo-von Willebrand disease
von Willebrand disease platelet-type
platelet-type bleeding disorder 11
A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.
BDPLT11
GP VI deficiency
glycoprotein VI deficiency
platelet-type bleeding disorder 12
A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
BDPLT12
PGHS1 deficiency
platelet COX1 deficiency
platelet cyclooxygenase 1 deficiency
platelet prostaglandin-endoperoxide synthase 1 deficiency
Bernard-Soulier syndrome type A2
A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
BSSA2
Bernard-Soulier syndrome
A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
Bernard - Soulier thrombopathy
Bernard Soulier syndrome
Giant platelet syndrome
Hemorrhagic dystrophic thrombocytopenia
Thrombopathy, Bernard-Soulier
Ambras type hypertrichosis universalis congenita
A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22.
Ambras syndrome
HTC1
hypertrichosis
A hair disease characterized by hair growth that is abnormal in quantity or location.
familial hypobetalipoproteinemia 2
A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.
FHBL2
combined familial hypolipidemia
hypobetalipoproteinemia
A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.
Hypo-beta-lipoproteinemia
familial hypobetalipoproteinemia 1
A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24.
FHBL1
hyperphosphatemic familial tumoral calcinosis
A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
HFTC
PHPTC
cortical hyperostosis with hyperphosphatemia
familial Teutschlaender disease
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
hypercalcemic tumoral calcinosis
hyperostosis with hyperphosphatemia
hyperphosphatemia hyperostosis
hyperphosphatemia hyperostosis syndrome
hyperphosphatemia tumoral calcinosis
lipocalcinogranulomatosis
morbus Teutschlaender
primary hyperphosphatemic tumoral calcinosis
tumoral calcinosis with hyperphosphatemia
autosomal recessive distal hereditary motor neuronopathy 1
A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
DSMA1
SIANRF
SMARD1
autosomal recessive distal spinal muscular atrophy 1
autosomal recessive spinal muscular atrophy with respiratory distress
dHMN6
diaphragmatic spinal muscular atrophy
distal hereditary motor neuropathy type 6
distal spinal muscular atrophy 1
distal-HMN type 6
severe infantile axonal neuropathy with respiratory failure type 1
spinal muscular atrophy with respiratory distress type 1
autosomal recessive distal hereditary motor neuronopathy 2
A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.
DSMA2
autosomal recessive distal spinal muscular atrophy 2
dHMNJ
distal hereditary motor neuropathy Jerash type
distal spinal muscular atrophy 2
spinal muscular atrophy Jerash type
congenital bile acid synthesis defect 5
A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
CBAS5
congenital bile acid synthesis defect 6
A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.
CBAS6
congenital bile acid synthesis defect 4
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.
CBAS4
intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
trihydroxycoprostanic acid in bile
congenital bile acid synthesis defect 2
A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.
CBAS2
cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
congenital bile acid synthesis defect 3
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.
CBAS3
oxysterol 7-alpha-hydroxylase deficiency
congenital bile acid synthesis defect 1
A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.
CBAS1
myostatin-related muscle hypertrophy
A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.
MSLHP
progressive familial heart block
A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death.
PFHB
familial Lenegre disease
familial Lev disease
familial Lev-Lenegre disease
familial PCCD
familial progressive heart block
hereditary bundle branch defect
progressive familial heart block type IA
A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.
PFHB1A
progressive familial heart block type II
A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32.
PFHB2
progressive familial heart block type IB
A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
PFHB1B
congenital nonspherocytic hemolytic anemia 2
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
PK deficiency
Red cell pyruvate kinase deficiency
hemolytic anemia due to red cell pyruvate kinase deficiency
pyruvate kinase deficiency of erythrocyte
pyruvate kinase deficiency of red cells
tibial muscular dystrophy
A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.
Finnish tibial muscular dystrophy
TMD
Tardive tibial muscular dystrophy
Udd myopathy
Udd type distal myopathy
distal titinopathy
birdshot chorioretinopathy
A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.
BSCR
birdshot chorioretinitis
birdshot retinochoroiditis
birdshot retinochoroidopathy
vitiliginous choroiditis
posterior uveitis
Uveitis, posterior
Fanconi anemia complementation group V
A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.
FANCV
Fanconi anemia complementation group T
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.
FANCT
Fanconi anemia complementation group L
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.
FANCL
Fanconi anemia complementation group D2
A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
FA4
FAD2
FANCD2
Fanconi pancytopenia type 4
Fanconi anemia complementation group E
A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21.
FACE
FANCE
Fanconi anemia complementation group U
A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.
FANCU
Fanconi anemia complementation group G
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.
FANCG
Fanconi anemia complementation group C
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.
FA3
FACC
FANCC
Fanconi pancytopenia type 3
Fanconi anemia complementation group F
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.
FANCF
Fanconi anemia complementation group D1
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.
FAD1
FANCD1
Fanconi anemia complementation group R
A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.
FANCR
Fanconi anemia complementation group I
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.
FANCI
Fanconi anemia complementation group P
A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.
FANCP
Fanconi anemia complementation group Q
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
FANCQ
Fanconi anemia complementation group N
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.
FANCN
Fanconi anemia complementation group A
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.
FANCA
Fanconi anemia complementation group O
A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.
FANCO
Fanconi anemia complementation group J
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.
FANCJ
Fanconi anemia complementation group B
A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22.
FACB
FANCB
Fanconi pancytopenia type 2
maturity-onset diabetes of the young type 1
A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.
Diabetes Mellitus Type 2
MODY type 1
MODY1
mild juvenile diabetes mellitus
maturity-onset diabetes of the young type 2
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.
MODY glucokinase-related
MODY type 2
MODY2
renal cysts and diabetes syndrome
A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.
CAKUT with diabetes
MODY5
RCAD
atypical FJHN
atypical familial juvenile hyperuricemic nephropathy
congenital anomalies of the kidney and urinary tract with diabetes
familial hypoplastic glomerulocystic kidney
hypoplastic type glomerulocystic kidney disease
maturity-onset diabetes of the young type 5
maturity-onset diabetes of the young type 3
A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.
MODY type 3
MODY3
maturity-onset diabetes of the young type 4
A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.
MODY type 4
MODY4
maturity-onset diabetes of the young type 6
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31.
MODY type 6
MODY6
maturity-onset diabetes of the young type 8
A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.
MODY type 8
MODY8
diabetes and pancreatic exocrine
maturity-onset diabetes of the young type 8 with exocrine dysfunction
maturity-onset diabetes of the young type 7
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25.
MODY7
maturity-onset diabetes of the young type 9
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.
MODY9
maturity-onset diabetes of the young type 10
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.
MODY10
maturity-onset diabetes of the young type 11
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22.
MODY11
maturity-onset diabetes of the young type 13
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.
MODY type 13
MODY13
maturity-onset diabetes of the young type 14
A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14.
MODY14
nephronophthisis 1
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.
NPH1
NPHP1
juvenile nephronophthisis 1
nephronophthisis
A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
medullary cystic disease
medullary cystic kidney
nephronophthisis 2
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.
NPH2
NPHP2
infantile nephronophthisis 2
nephronophthisis 3
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.
NPH3
NPHP3
nephronophthisis 4
A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31.
NPHP4
juvenile nephronophthisis 4
nephronophthisis 7
A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13.
NPHP7
nephronophthisis-like nephropathy 1
A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.
NPHPL1
nephronophthisis 11
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
NPHP11
nephronophthisis 12
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
NPHP12
nephronophthisis 9
A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.
NPHP9
nephronophthisis 13
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
NPHP13
nephronophthisis 14
A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.
NPHP14
nephronophthisis 15
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q.
NPHP15
nephronophthisis 16
A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.
NPHP16
nephronophthisis 18
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.
NPHP18
nephronophthisis 19
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.
NPHP19
nephronophthisis 20
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.
NPHP20
focal segmental glomerulosclerosis 1
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.
FSGS1
focal segmental glomerulosclerosis
FGS
FSGS
focal glomerular sclerosis
focal glomerulosclerosis
focal segmental glomerulosclerosis 2
A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1.
FSGS2
focal segmental glomerulosclerosis 5
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.
FSGS5
focal segmental glomerulosclerosis 6
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2.
FSGS6
focal segmental glomerulosclerosis 7
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.
FSGS7
focal segmental glomerulosclerosis 8
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2.
FSGS8
focal segmental glomerulosclerosis 9
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3.
FSGS9
congenital generalized lipodystrophy type 1
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
Berardinelli-Seip Congenital Lipodystrophy, Type 1
Brunzell syndrome AGPAT2-related
congenital generalized lipodystrophy type 2
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
Berardinelli-Seip congenital lipodystrophy type 2
Berardinelli-Seip syndrome
Brunzell syndrome BSCL2-related
CGL2
congenital lipoatrophic diabetes
total lipodystrophy and acromegaloid gigantism
congenital generalized lipodystrophy type 3
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
Berardinelli-Seip congenital lipodystrophy type 3
congenital generalized lipodystrophy type 4
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
congenital generalised lipodystrophy type 4
generalised congenital lipodystrophy type 4
generalised congenital lipodystrophy with myopathy
generalized congenital lipodystrophy type 4
generalized congenital lipodystrophy with myopathy
IGSF1 deficiency syndrome
A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.
CHTE
X-linked central congenital hypothyroidism with late-onset macroorchidism
X-linked central congenital hypothyroidism with late-onset testicular enlargement
central hypothyroidism and testicular enlargement
delayed sleep phase syndrome
A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.
DSPD
oligomeganephronia
A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons.
Oligomeganephronic renal hypoplasia
preterm premature rupture of the membranes
A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.
PPROM
ureteropelvic junction obstruction
A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter.
urinary tract obstruction
Obstructive Uropathy
urinary obstruction
acquired von Willebrand syndrome
A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders.
AVWS
angioimmunoblastic T-cell lymphoma
A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis.
isolated ectopia lentis
A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
IEL
familial ectopia lentis
lens disease
An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
autosomal recessive isolated ectopia lentis 2
An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
ECTOL2
autosomal dominant isolated ectopia lentis 1
An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
ECTOL1
Prinzmetal angina
A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity.
Prinzmetal's angina
Prinzmetal's variant angina
angina inversa
variant angina
variant angina pectoris
coronary artery vasospasm
Coronary Vasospasm
Coronary artery spasm
multicentric Castleman disease
A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.
MCD
PMCD
multicentric giant lymph node hyperplasia
plasmablastic multicentric Castleman disease
Castleman disease
A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.
angiofollicular lymph hyperplasia
angiofollicular lymph node hyperplasia
giant lymph node hyperplasia
lymphoid hamartoma
postural orthostatic tachycardia syndrome
A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.
familial orthostatic tachycardia due to norepinephrine transporter deficiency
irritable heart
mitral valve prolapse syndrome
orhtostatic intolerance
orthostatic intolerance due to NET deficiency
postural tachycardia syndrome due to NET deficiency
soldiers heart
autosomal recessive spinocerebellar ataxia 21
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
SCAR21
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
autosomal recessive spinocerebellar ataxia 21 with hepatopathy
spermatogenic failure 9
A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.
globozoospermia
male infertility due to round-headed spermatozoa
SADDAN
A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.
SADDAN dysplasia
severe achondroplasia with developmental delay and acanthosis nigricans
partial trisomy distal 4q
A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.
Chromosome 4, Partial Trisomy 4q
Distal 4q Trisomy
Dup(4q) Syndrome, Partial
Duplication 4q Syndrome, Partial
Partial Trisomy 4q Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
CATSHL syndrome
Crouzon syndrome-acanthosis nigricans syndrome
A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.
CAN
Crouzon-dermoskeletal syndrome
Crouzonodermoskeletal syndrome
epidermal nevus
A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.
nonepidermolytic keratinocytic nevus
molybdenum cofactor deficiency type B
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.
MOCOD type B
MOCODB
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
molybdenum cofactor deficiency complementation group B
molybdenum cofactor deficiency type B1
molybdenum cofactor deficiency
A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.
MOCOD
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
molybdenum cofactor deficiency type A
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.
MOCOD type A
MOCODA
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
molybdenum cofactor deficiency complementation group A
molybdenum cofactor deficiency type C
A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.
MOCOD type C
MOCODC
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
molybdenum cofactor deficiency complementation group C
sepiapterin reductase deficiency
A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.
DRD due to SRD
SPR deficiency
SRD
dopa-responsive dystonia due to sepiapterin reductase deficiency
subcortical band heterotopia
A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
HeCo
band heterotopia
double cortex syndrome
heterotopic cortex
subcortical laminar heterotopia
autosomal dominant sensory ataxia 1
A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.
ADSA
SNAX1
French Canadian Leigh disease
A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
French Canadian type COX deficiency
French Canadian type Leigh syndrome
French Canadian type cytochrome c oxidase deficiency
Saguenay Lac saint Jean type COX deficiency
Saguenay Lac saint Jean type Leigh syndrome
mitochondrial complex IV deficiency nuclear type 5
familial hemiplegic migraine 1
A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13.
FHM1
MHP1
familial hemiplegic migraine1 with progressive cerebellar ataxia
familial hemiplegic migraine 2
A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2.
FHM2
Familial hemiplegic migraine-2
MHP2
familial hemiplegic migraine 3
A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.
FHM3
MHP3
myopathy, lactic acidosis, and sideroblastic anemia 3
A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome.
MLASA3
myopathy, lactic acidosis, and sideroblastic anemia 1
A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.
MLASA1
myopathy, lactic acidosis, and sideroblastic anemia 2
A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.
MLASA2
distal myopathy with anterior tibial onset
A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13.
DMAT
distal muscular dystrophy with anterior tibial onset
myofibrillar myopathy 9
A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
Edstrom myopathy
HIBM-ERF
HMERF
Hereditary inclusion body myopathy with early respiratory failure
MFM-titinopathy
MFM9
MPRM
Myofibrillar myopathy-titinopathy
autosomal dominant distal myopathy with early respiratory failure
hereditary myopathy with early respiratory failure
myofibrillar myopathy 9 with early respiratory failure
proximal myopathy with early respiratory muscle involvement
distal myopathy 3
A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.
MPD3
distal muscular dystrophy 3
distal myopathy type 3
distal myopathy 4
A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
MPD4
distal ABD-filaminopathy
distal muscular dystrophy 4
distal myopathy with posterior leg and anterior hand involvement
distal myopathy Tateyama type
A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
distal muscular dystrophy Tateyama type
facioscapulohumeral muscular dystrophy 1
A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
FSHD1
facioscapulohumeral muscular dystrophy type 1
facioscapulohumeral muscular dystrophy type 1A
facioscapulohumeral muscular dystrophy 2
A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.
FSHD2
facioscapulohumeral muscular dystrophy 1B
facioscapulohumeral muscular dystrophy type 2
autosomal dominant adult-onset proximal spinal muscular atrophy
A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13.
Finkel disease
Finkel late-adult type SMA
SMAFK
autosomal dominant adult proximal spinal muscular atrophy
autosomal dominant adult-onset proximal SMA
autosomal dominant late-onset spinal muscular atrophy, Finkel type
erythrokeratodermia variabilis et progressiva 1
An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
X-linked distal spinal muscular atrophy 3
A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.
ATP7A-related distal motor neuropathy
DSMAX
SMAX3
X-linked dHMN3
X-linked dSMA3
X-linked distal hereditary motor neuropathy type 3
X-linked recessive distal spinal muscular atrophy
autosomal dominant distal hereditary motor neuronopathy 7
An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.
DHMN7A
DHMNVPy
HMN VIIA
HMN7A
Harper-Young myopath
dHMN7
distal hereditary motor neuronopathy type 7
distal hereditary motor neuropathy type VIIA
distal spinal muscular atrophy with vocal cord paralysis
distal spinal muscular atrophy with vocal cord paralysis type 7A
autosomal dominant distal hereditary motor neuronopathy 1
An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.
HMN I
autosomal dominant distal juvenile spinal muscular atrophy type 1
dHMN1
distal hereditary motor neuronopathy type 1
distal hereditary motor neuropathy type I
spinal Charcot-Marie-Tooth disease 1
obsolete distal hereditary motor neuronopathy type 7A
A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3.
autosomal dominant distal hereditary motor neuronopathy 14
An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.
DHMN7B
HMN VIIB
HMN7B
Harper-Young myopathy
distal hereditary motor neuronopathy type 7B
distal hereditary motor neuropathy type VIIB
distal spinal muscular atrophy with vocal cord paralysis type 7B
autosomal dominant distal hereditary motor neuronopathy 5
An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.
DHMN5
DSMAV
HMN5
distal HMN V
distal HMN VA
distal hereditary motor neuronopathy type 5
distal hereditary motor neuronopathy type 5A
distal hereditary motor neuropathy type V
distal spinal muscular atrophy type V
distal spinal muscular atrophy type VA
distal spinal muscular atrophy with upper limb predominance
obsolete distal hereditary motor neuronopathy type 5A
A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3.
autosomal dominant distal hereditary motor neuronopathy 12
An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.
distal HMN VB
distal hereditary motor neuronopathy type 5B
distal spinal muscular atrophy type VB
autosomal dominant distal hereditary motor neuronopathy 2
An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.
HMN II
HMN IIA
HMN2
HMN2A
autosomal dominant adult spinal muscular atrophy IIA
distal hereditary motor neuronopathy type 2
distal hereditary motor neuronopathy type 2A
distal hereditary motor neuropathy type II
distal hereditary motor neuropathy type IIA
spinal Charcot-Marie-Tooth disease IIA
autosomal dominant distal hereditary motor neuronopathy 3
An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.
HMN IIB
HMN2B
distal hereditary motor neuronopathy type 2B
distal hereditary motor neuropathy type IIB
obsolete distal hereditary motor neuronopathy type 2A
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23.
autosomal dominant distal hereditary motor neuronopathy 4
A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2.
DHMN2C
HMN IIC
HMN2C
distal hereditary motor neuronopathy type 2C
distal hereditary motor neuropathy type IIC
autosomal dominant distal hereditary motor neuronopathy 6
A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32.
HMN IID
HMN2D
distal hereditary motor neuronopathy type 2D
distal hereditary motor neuropathy type IID
distal spinal muscular atrophy with calf predominance
autosomal recessive distal hereditary motor neuronopathy 3
An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.
autosomal recessive distal spinal muscular atrophy type 3
dHMN3
dHMN3 and dHMN4
dHMN4
dSMA3
distal hereditary motor neuropathy type 3
distal hereditary motor neuropathy type 3 and type 4
distal hereditary motor neuropathy type 4
distal spinal muscular atrophy type 3
autosomal dominant distal hereditary motor neuronopathy 9
An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2.
DHMN9
HMN9
distal hereditary motor neuronopathy type 9
distal hereditary motor neuropathy type IX
autosomal recessive distal hereditary motor neuronopathy 4
An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.
DSMA4
autosomal recessive distal spinal muscular atrophy type 4
autosomal recessive lower motor neuron disease with childhood onset
distal spinal muscular atrophy type 4
autosomal recessive distal hereditary motor neuronopathy 5
An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.
DSMA5
autosomal recessive distal spinal muscular atrophy type 5
distal spinal muscular atrophy type 5
young adult-onset dHMN
young adult-onset distal hereditary motor neuropathy
autosomal dominant distal hereditary motor neuronopathy 8
An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.
DHMN8
HMN8
autosomal dominant benign distal spinal muscular atrophy
autosomal dominant congenital benign spinal muscular atrophy
congenital benign spinal muscular atrophy with contractures
congenital nonprogressive spinal muscular atrophy
distal hereditary motor neuronopathy type 8
distal hereditary motor neuropathy type VIII
autosomal recessive centronuclear myopathy
A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance.
AR-CNM
centronuclear myopathy
A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
myotubular myopathy
autosomal dominant centronuclear myopathy
A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance.
AD-CNM
Friedreich ataxia 1
A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1.
FA1
FRDA1
Friedreich ataxia
Friedreich's ataxia
Friedreich's tabes
Friedreich ataxia 2
A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region.
FRDA2
centronuclear myopathy 2
An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.
CNM2
centronuclear myopathy 6 with fiber-type disproportion
An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1.
CNM6
centronuclear myopathy 5
An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35.
CNM5
centronuclear myopathy 1
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
CNM1
centronuclear myopathy 4
An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3.
CNM4
centronuclear myopathy X-linked
A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
CNMX
MTM1
X-linked myotubular myopathy
XLCNM
XLMTM
myotubular myopathy 1
X-linked congenital myopathy with fiber-type disproportion
A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1.
CFTDX
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.
ALS17
AMYOTROPHIC LATERAL SCLEROSIS
AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)
CHMP2B-RELATED
CHMP2B-related frontotemporal dementia
FRONTOTEMPORAL DEMENTIA
FTD3
FTDALS7
amyotrophic lateral sclerosis type 17
chromosome 3-linked frontotemporal dementia
Sveinsson chorioretinal atrophy
An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3.
HPCD
SCRA
atrophia areata
helicoid peripapillary chorioretinal degeneration
peripapillary chorioretinal degeneration, Icelandic type
muscular dystrophy-dystroglycanopathy
A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
MDDG
congenital muscular dystrophy-dystroglycanopathy type A11
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
MDDGA11
Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
congenital muscular dystrophy-dystroglycanopathy type A8
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
MDDGA8
Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
congenital muscular dystrophy-dystroglycanopathy type A9
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
MDDGA9
Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
congenital muscular dystrophy-dystroglycanopathy type A14
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
MDDGA14
Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
congenital muscular dystrophy-dystroglycanopathy type A7
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
MDDGA7
Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
congenital muscular dystrophy-dystroglycanopathy type A12
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
MDDGA12
Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
congenital muscular dystrophy-dystroglycanopathy type A3
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
MDDGA3
Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
congenital muscular dystrophy-dystroglycanopathy type A1
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
MDDGA1
Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
congenital muscular dystrophy-dystroglycanopathy type A13
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
MDDGA13
Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
congenital muscular dystrophy-dystroglycanopathy type A10
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
MDDGA10
Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
congenital muscular dystrophy-dystroglycanopathy type A2
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
MDDGA2
Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
congenital muscular dystrophy-dystroglycanopathy type A5
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
MDDGA5
Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
congenital muscular dystrophy-dystroglycanopathy type A6
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
MDDGA6
Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
acromicric dysplasia
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.
ACMICD
acromicric skeletal dysplasia
palmoplantar keratoderma and congenital alopecia 1
An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
PPK-CA, Stevanovic type
PPKCA Stevanovic type
PPKCA1
autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
autosomal dominant palmoplantar keratoderma and congenital alopecia
keratoderma-hypotrichosis-leukonychia totalis syndrome
palmoplantar keratoderma and congenital alopecia, Stevanovic type
palmoplantar keratoderma and congenital alopecia 2
An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.
CASS
PPK-CA, Wallis type
PPKCA Wallis type
PPKCA2
autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
autosomal recessive palmoplantar keratoderma and congenital alopecia
cataract-alopecia-sclerodactyly syndrome
palmoplantar keratoderma and congenital alopecia, Wallis type
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.
ALS-PDC
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
Guam disease
Lytico-Bodig disease
PDALS
amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam
parkinsonism-dementia-ALS complex
hypertension and brachydactyly syndrome
A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.
Bilginturan brachydactyly
Bilginturan syndrome
HTNB
brachydactyly with hypertension
type E brachydactyly with short stature and hypertension
cerebrocostomandibular syndrome
A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.
CCM syndrome
CCMS
cerebro-costo-mandibular syndrome
rib gap defects with micrognathia
uveal coloboma-cleft lip and palate-intellectual disability
A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1.
COB1
Uveal coloboma-cleft lip/palate-mental retardation syndrome
coloboma-microphthalmos syndrome
coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation
Parkinson's disease 3
A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region.
PARK3
Parkinson disease 3
autosomal dominant Lewy body Parkinson disease 3
autosomal dominant Parkinson disease 3
Parkinson's disease 21
A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.
PARK21
Parkinson disease 21
vestibular schwannomatosis
A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
ACN
BANF
NF2
NF2-related schwannomatosis
SWN3
SWNV
acoustic neurofibromatosis
bilateral acoustic neurinoma
bilateral acoustic neurofibromatosis
bilateral acoustic schwannomas
central neurofibromatosis
familial acoustic neuromas
neurofibromatosis 2
neurofibromatosis type II
schwannomatosis 3
This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253).
neurofibromatosis
glutaric acidemia I
An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.
GA1
glutaric academia type 1
glutaric aciduria 1
glutaric aciduria type I
glutaryl-coA dehydrogenase deficiency
glutaryl-coenzyme A dehydrogenase deficiency
McKusick-Kaufman syndrome
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.
HMCS
Kaufman McKusick syndrome
MKKS
hydrometrocolpos syndrome
hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
hydrometrocolpos-postaxial polydactyly syndrome
hyperferritinemia-cataract syndrome
A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
Bonneau-Beaumont syndrome
HHCS
HRFTC
cataract-hyperferritinemia syndrome
hereditary hyperferritinemia with congenital cataracts
hereditary hyperferritinemia-cataract syndrome
hyperferritinemia with or without cataract
gamma-glutamyl transpeptidase deficiency
An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.
GGT deficiency
GGT1 deficiency
GTG deficiency
gamma-glutamyl transferase deficiency
glutathionuria
pentosuria
An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.
L-xylulose reductase deficiency
L-xylulosuria
PNTSU
essential pentosuria
xylitol dehydrogenase deficiency
postaxial acrofacial dysostosis
A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.
Miller syndrome
POADS
Postaxial acrodysostosis
acrofacial dysostosis, Genee-Wiedmann type
mandibulfacial dysostosis with postaxial limb anomalies
phosphoribosylpyrophosphate synthetase superactivity
An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.
PRPP synthetase superactivity
PRPS1 superactivity
fumarase deficiency
An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.
FMRD
fumaric aciduria
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21.
postnatal progressive microcephaly, seizures, and brain atrophy
combined malonic and methylmalonic acidemia
An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
CMAMMA
combined malonic and methylmalonic aciduria
Ruijs-Aalfs syndrome
A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.
progeroid features-hepatocellular carcinoma predisposition syndrome
Boucher-Neuhauser syndrome
A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
ataxia-hypogonadism-choroidal dystrophy syndrome
geroderma osteodysplasticum
A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.
Walt Disney dwarfism
geroderma osteodysplastica
gerodermia osteodysplastica
hyaline body myopathy
A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.
myosin storage myopathy
autosomal recessive hyaline body myopathy
A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.
MSMB
Myopathy, myosin storage, autosomal recessive
autosomal recessive myosin storage congenital myopathy 7B
congenital myopathy 7B
autosomal dominant hyaline body myopathy
A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.
MSMA
Myopathy, myosin storage, autosomal dominant
autosomal dominant myosin storage congenital myopathy 7A
congenital myopathy 7A
myopathy with lysis of type I myofibrils
isolated sulfite oxidase deficiency
An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2.
sulfocysteinuria
Oliver-McFarlane syndrome
A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
OMCS
eyelashes long mental retardation
long eyelashes-intellectual disability syndrome
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
occipital horn syndrome
A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.
EDS IX
Ehlers-Danlos syndrome type 9
Ehlers-Danlos syndrome type IX
X-linked cutis laxa
NARP syndrome
A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
neuropathy, ataxia and retinitis pigmentosa
CODAS syndrome
A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
cerebral, ocular, dental, auricular, and skeletal syndrome
cerebro-oculo-dento-auriculo-skeletal syndrome
speech-language disorder-1
A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.
CAS
articulatory apraxia
childhood apraxia of speech
developmental apraxia of speech
developmental verbal dyspraxia
speech and language disorder with orofacial dyspraxia
speech-language disorder type 1
speech disorder
A communication disorder that involves difficulty with the act of speech production.
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.
SANDO
autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions
histiocytosis-lymphadenopathy plus syndrome
A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.
Faisalabad histiocytosis
H syndrome
HJCD
PHID
Rosai–Dorfman disease
SHML
cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
familial Rosai-Dorfman disease
histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
histiocytosis with joint contractures and sensorineural deafness
pigmented hypertrichosis with insulin-dependent diabetes mellitus
sinus histiocytosis and massive lymphadenopathy
psoriasis 7
A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R.
PSORS7
psoriasis 4
A psoriasis that has_material_basis_in variation in a region on chromosome 1q21.
PSORS4
psoriasis 15
A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1.
PSORS15
psoriasis 5
A psoriasis that has_material_basis_in variation in a region on chromosome 3q21.
PSORS5
psoriasis 3
A psoriasis that has_material_basis_in variation in a region on chromosome 4q.
PSORS3
psoriasis 9
A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34.
PSORS9
psoriasis 11
A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B.
PSORS11
psoriasis 1
A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33.
PSORS1
psoriasis 13
A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21.
PSORS13
psoriasis 8
A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease.
PSORS8
psoriasis 10
A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23.
PSORS10
psoriasis 6
A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG.
PSORS6
psoriasis 12
A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114.
PSORS12
Moved to a susceptibility, reviewed Feb 2025[LS].
obsolete idiopathic generalized epilepsy 10
An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33.
generalized epilepsy with febrile seizures plus 4
A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24.
GEFS+4
GEFSP4
generalised epilepsy with febrile seizures plus 4
generalised epilepsy with febrile seizures plus type 4
generalized epilepsy with febrile seizures plus type 4
generalized epilepsy with febrile seizures plus 2
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3.
GEFS+2
GEFSP2
generalised epilepsy with febrile seizures plus 2
generalised epilepsy with febrile seizures plus type 2
generalized epilepsy with febrile seizures plus type 2
generalized epilepsy with febrile seizures plus 7
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3.
GEFS+7
GEFSP7
generalised epilepsy with febrile seizures plus 7
generalised epilepsy with febrile seizures plus type 7
generalized epilepsy with febrile seizures plus type 7
generalized epilepsy with febrile seizures plus 10
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.
GEFS+10
GEFSP10
generalised epilepsy with febrile seizures plus 10
generalised epilepsy with febrile seizures plus type 10
generalized epilepsy with febrile seizures plus type 10
familial febrile seizures
A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance.
FEB
familial febrile convulsions
familial febrile seizures 8
A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.
FEB8
familial febrile convulsions 8
generalized epilepsy with febrile seizures plus 8
A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31.
GEFS+8
GEFSP8
generalised epilepsy with febrile seizures plus 8
generalised epilepsy with febrile seizures plus type 8
generalized epilepsy with febrile seizures plus type 8
generalized epilepsy with febrile seizures plus 6
A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21.
GEFS+6
GEFSP6
generalised epilepsy with febrile seizures plus 6
generalised epilepsy with febrile seizures plus type 6
generalized epilepsy with febrile seizures plus type 6
generalized epilepsy with febrile seizures plus 9
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2.
GEFS+9
GEFSP9
generalised epilepsy with febrile seizures plus 9
generalised epilepsy with febrile seizures plus type 9
generalized epilepsy with febrile seizures plus type 9
generalized epilepsy with febrile seizures plus 1
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11.
GEFS+1
GEFSP1
generalised epilepsy with febrile seizures plus 1
generalised epilepsy with febrile seizures plus type 1
generalized epilepsy with febrile seizures plus type 1
familial febrile seizures 9
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23.
FEB9
familial febrile convulsions 9
familial febrile seizures 10
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33.
FEB10
familial febrile convulsions 10
familial febrile seizures 4
A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3.
FEB4
familial febrile convulsions 4
familial febrile seizures 5
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24.
FEB5
familial febrile convulsions 5
familial febrile seizures 1
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21.
FEB1
familial febrile convulsions 1
familial febrile seizures 11
A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.
FEB11
familial febrile convulsions 11
familial febrile seizures 6
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2.
FEB6
familial febrile convulsions 6
familial febrile seizures 2
A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3.
FEB2
familial febrile convulsions 2
familial febrile seizures 7
A familial febrile seizures that has_material_basis_in heterozygous mutation.
FEB7
familial febrile convulsions 7
Moved to a susceptibility term, reviewed Feb 2025[LS].
obsolete idiopathic generalized epilepsy 11
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1.
obsolete idiopathic generalized epilepsy 12
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2.
EIG12
obsolete idiopathic generalized epilepsy 13
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34.
obsolete idiopathic generalized epilepsy 14
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12.
Moved to a susceptibillity, reviewed Feb 2025[LS].
obsolete idiopathic generalized epilepsy 15
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13.
Moved to a susceptibilty, reviewed Feb 2025[LS].
obsolete idiopathic generalized epilepsy 2
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23.
obsolete idiopathic generalized epilepsy 3
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33.
obsolete idiopathic generalized epilepsy 4
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26.
obsolete idiopathic generalized epilepsy 5
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22.
obsolete idiopathic generalized epilepsy 7
An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14.
obsolete idiopathic generalized epilepsy 8
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1.
obsolete idiopathic generalized epilepsy 9
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3.
juvenile absence epilepsy 1
A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2.
EJA1
JAE1
juvenile myoclonic epilepsy 10
A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1.
EJM10
juvenile myoclonic epilepsy
A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
Janz syndrome
juvenile myoclonic epilepsy 3
A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21.
EJM3
juvenile myoclonic epilepsy 4
A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14.
EJM4
juvenile myoclonic epilepsy 9
A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36.
EJM9
pyridoxamine 5'-phosphate oxidase deficiency
A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32.
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
pyridoxal 5'-phosphate-dependent epilepsy
pyridoxal phosphate-dependent seizures
pyridoxal phosphate-responsive seizures
pyridoxamine 5'-oxidase deficiency
pyridoxamine 5-prime-phosphate oxidase deficiency
combined saposin deficiency
A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.
PSAPD
combined SAP deficiency
encephalopathy due to prosaposin deficiency
intellectual disability-severe speech delay-mild dysmorphism syndrome
A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.
FOXP1 Haploinsufficiency
FOXP1 syndrome
FOXP1-Related Neurodevelopmental Disorder
Mental retardation with language impairment and with or without autistic features
intellectual developmental disorder with language impairment and with or without autistic features
Pitt-Hopkins-like syndrome 2
A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3.
PTHSL2
congenital myopathy 10A
A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.
EMARDD
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
congenital leptin deficiency
A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.
LEPD
leptin deficiency or dysfunction
obesity due to congenital leptin deficiency
myopathy with extrapyramidal signs
A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.
MPXPS
proximal myopathy with extrapyramidal signs
craniofacial-deafness-hand syndrome
A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1.
CDHS
Sommer-Young-Wee-Frye syndrome
Jackson-Weiss syndrome
A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.
JWS
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
isolated elevated serum creatine phosphokinase levels
An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.
elevated serum CPK
idiopathic hyperCKemia
isolated hyperCKemia
Vohwinkel syndrome
A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.
KHM
Mutilating keratoderma plus deafness
PPK mutilans and deafness
VOWNKL
congenital deafness with keratopachydermia and constrictions fo fingers and toes
keratoderma hereditarium mutilans
mutilating keratoderma of Vohwinkel
dominant optic atrophy plus syndrome
A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
DOA+
optic atrophy plus syndrome
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
sensorineural hearing loss
An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
High Frequency Hearing Loss
High frequency deafness
Perceptive deafness
Perceptive hearing loss
Perceptive hearing loss or deafness
Sensorineural Deafness
Sensory hearing loss
central hearing loss
high-frequency hearing loss
primary failure of tooth eruption
A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
PFE
dental noneruption
familial posterior openbite malocclusion
nonsyndromic primary failure of eruption
primary retention of teeth
unerupted second primary molar
dermatopathia pigmentosa reticularis
An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.
DPR
lateral meningocele syndrome
A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.
Lehman syndrome
myeloproliferative disorder with eosinophilia
A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32.
chronic myeloproliferative disorder with eosinophilia
transient bullous dermolysis of the newborn
An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.
DEB, bullous dermolysis of the newborn
DEB-BDN
epidermolysis bullosa simplex 2F with mottled pigmentation
An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in the keratin-5 gene (KRT5) on chromosome 12q13.13.
EBSMP
Epidermolysis bullosa simplex-MP
epidermolysis bullosa simplex with mottled pigmentation
speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31.
EBD, Bart type
epidermolysis bullosa dystrophica, Bart type
multiple epiphyseal dysplasia with myopia and deafness
A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
EDMMD
multiple epiphyseal dysplasia, Beighton type
multiple epiphyseal dysplasia-myopia-deafness syndrome
hereditary desmoid disease
A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.
FIF
familial infiltrative fibromatosis
Laurin-Sandrow syndrome
A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
MIPduplication of fibuland ulna with absence of tibia and radius
Sandrow syndrome
TMIP
miccor hands and feet with nasal defects
mirror hands and feets-nasal defects syndrome
mirror-image polydactyly
tetramelic mirror-image polydactyly
D-2-hydroxyglutaric aciduria 1
A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.
D2HGA1
D-2-hydroxyglutaric aciduria 2
A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.
D2HGA2
arthrogryposis, renal dysfunction, and cholestasis 1
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.
ARCS1
arthrogryposis, renal dysfunction, and cholestasis 2
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.
ARCS2
hydrolethalus syndrome 1
A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2.
HLS1
hydrolethalus syndrome 2
A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1.
HLS2
adermatoglyphia
A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3.
ADERM
ADG
Absence of fingerprints
Congenital absence of fingerprints
Immigration delay disease
Isolated congenital adermatoglyphia
Floating-Harbor syndrome
A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.
FLHS
large congenital melanocytic nevus
A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.
Congenital pigmented nevus
GMN
Giant congenital melanocytic nevus
Giant pigmented hairy nevus
LCMN
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
HLT-renal defect syndrome
HLTRS
glomerulonephritis with sparse hair and telangiectases
hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
telangiectatic membranoproliferative glomerulonephritis
hypotrichosis-lymphedema-telangiectasia syndrome
A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33.
HLTS
hawkinsinuria
An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-HPPD deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
Heinz body anemia
A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.
Alzheimer's disease 9
An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3.
AD9
Alzheimer's disease 9, late onset
benign familial hematuria
A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3.
BFH
TMN
thin basement membrane nephropathy
thin membrane nephropathy
familial hepatic adenoma
A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31.
familial liver cell adenomas
Beukes hip dysplasia
An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.
BFHD
Beukes familial hip dysplasia
Beukes type hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip
cholesterol-ester transfer protein deficiency
A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood.
CEPT deficiency
familial hyperalphalipoproteinemia
hyperalphalipoproteinemia 1
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13.
HALP1
apolipoprotein C-III deficiency
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3.
HALP2
hyperalphalipoproteinemia 2
isolated hyperchlorhidrosis
A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2.
HYCHL
carbonic anhydrase XII deficiency
obsolete autosomal dominant endosteal hyperostosis
An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2.
familial progressive hyperpigmentation with or without hypopigmentation
A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32.
FPHH
MUH
melanosis universalis hereditaria
selective pituitary thyroid hormone resistance
A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2.
PRTH
familial hyperthyroidism due to inappropriate thyrotropin secretion
pituitary resistance to thyroid hormone
selective pituitary resistance to thyroid hormone
fetal akinesia deformation sequence syndrome 3
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
FADS3
fetal akinesia deformation sequence syndrome 1
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
FADS1
fetal akinesia deformation sequence syndrome 2
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2.
FADS2
fetal akinesia deformation sequence syndrome 4
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2.
FADS4
solitary median maxillary central incisor
A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3.
SMMCI
fused incisors
single central maxillary incisor
single median maxillary central incisor
single upper central incisor
IVIC syndrome
A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2.
Instituto Venezolano de Investigaciones Cientificas syndrome
OORS
Oculootoradial syndrome
oculo-oto-radial syndrome
radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
ischiocoxopodopatellar syndrome
A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2.
SPS
Scott-Taor syndrome
congenital coxa vara, patella aplasia and tarsal synostosis
coxo-podo-patellar syndrome
coxopodipatellar syndrome
ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
ischiopatellar dysplasia
patella aplasia, coxa vara, and tarsal synostosis
small patella syndrome
autosomal dominant keratitis
A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
hereditary keratitis
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
IBMPFD2
MSP2
multisystem proteinopathy 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
IBMPFD1
MSP1
multisystem proteinopathy 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.
IBMPFD3
MSP3
multisystem proteinopathy 3
hypoparathyroidism
A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
X-linked hypoparathyroidism
A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.
HYPX
agenesis of parathyroid glands
mucopolysaccharidosis Ih/s
A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
MPS1H/S
MPSIH/S
Mucopolysaccharidosis type 1H/S
mucopolysaccharidosis Ih
A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
Dysostosis multiplex syndrome
Hurler disease MPS type 1H
Hurler-Pfaundler syndrome
L-iduronidase deficiency, Hurler type
MPS1-H
Mucopolysaccharidosis type I severe form
dysostosis multiplex
gargoylism
mucopolysaccharidosis IVA
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
GALNS deficiency
MPS IVA
MPS4A
Morquio A disease
Morquio syndrome A
mucopolysaccharidosis IV
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Mucopolysaccharidosis, MPS-IV
deficiency of N-acetylgalactosamine-6-sulphatase
deficiency of chondroitinsulphatase
galactosamine-6-sulfatase deficiency
Osteochondrodystrophy
chondroosteodystrophy
mucopolysaccharidosis type IVB
A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
MPS IVB
MPS4B
Morquio disease type B
Morquio syndrome B
beta-D-galactosidase deficiency
mucopolysaccharidosis type IVB (Morquio)
mucopolysaccharidosis type IIIC
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
HGSNAT deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
MPS3C
MPSIIIC
Mucopolysaccharidosis type 3C
Sanfilippo syndrome type C
mucopolysaccharidosis type IIIC (Sanfilippo C)
mucopolysaccharidosis III
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Mucopolysaccharidosis, MPS-III
N-sulphoglucosamine sulphohydrolase deficiency
Sanfilippo's syndrome
heparan sulfate sulfatase deficiency
naglu deficiency
mucopolysaccharidosis type IIIB
A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
MPS3B
MPSIIIB
Mucopoly-saccharidosis type 3B
Mucopolysaccharidosis type 3B
N-acetyl-alpha-glucosaminidase deficiency
NAGLU deficiency
Sanfilippo syndrome type B
mucopolysaccharidosis type IIIB (Sanfilippo B)
mucopolysaccharidosis type IIIA
A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
MPS3A
MPSIIIA
Sanfilippo syndrome type A
heparan sulfamidase deficiency
mucopolysaccharidosis III-A
mucopolysaccharidosis type 3A
mucopolysaccharidosis type IIIA (Sanfilippo A)
congenital dyserythropoietic anemia type I
A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis.
CDA I
CDA type 1
CDA type I
CDA1
Congenital dyserythropoietic anaemia type 1
Congenital dyserythropoietic anemia type 1
congenital dyserythropoietic anaemia type I
congenital dyserythropoietic anemia type Ib
A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14.
CDA, type Ib
CDAN1B
congenital dyserythropoietic anemia type Ia
A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2.
CDA Ia
CDAN1A
congenital dyserythropoietic anemia type IIIa
A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23.
CDA III
CDA type 3
CDA type III
CDAN3
Congenital dyserythropoietic anaemia type 3
Congenital dyserythropoietic anemia type 3
anaemia with multinucleated erythroblasts
anemia with multinucleated erythroblasts
congenital dyserythropoietic anaemia type III
hereditary benign erythroreticulosis
congenital dyserythropoietic anemia type IVa
A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
CDA IV
CDA due to KLF1 mutation
CDA type 4
CDA type IV
CDAN4
Congenital dyserythropoietic anaemia due to KLF1 mutation
Congenital dyserythropoietic anaemia type 4
Congenital dyserythropoietic anemia due to KLF1 mutation
Congenital dyserythropoietic anemia type 4
congenital dyserythropoietic anaemia type IV
congenital dyserythropoietic anemia type II
A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.
CDA II
CDA type 2
CDA type II
CDAN2
Congenital dyserythropoietic anaemia type 2
Congenital dyserythropoietic anemia type 2
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
SEC23B-CDG
congenital dyserythropoietic anaemia type II
mucopolysaccharidosis type IIID
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
GNS deficiency
MPS IIID
MPS3D
Mucopolysaccharidosis type 3D
N-acetylglucosamine-6-sulfatase deficiency
Sanfilippo syndrome D
Sanfilippo syndrome type D
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13.
MCCCHCM
Jalili syndrome
A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.
Cone rod dystrophy-amelogenesis imperfecta syndrome
cone-rod dystrophy and amelogenesis imperfecta
Fraser syndrome 1
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21.
FRASRS1
Fraser syndrome 3
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3.
FRASRS3
Fraser syndrome 2
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3.
FRASRS2
exudative vitreoretinopathy 5
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31.
EVR5
exudative vitreoretinopathy 3
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12.
EVR3
exudative vitreoretinopathy 6
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2.
EVR6
exudative vitreoretinopathy 4
An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2.
EVR4
exudative vitreoretinopathy 1
An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.
EVR1
X-linked exudative vitreoretinopathy 2
An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3.
EVR2
EVRX
FEVRX
trichohepatoenteric syndrome
A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex.
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
THES
Tricho-hepato-enteric syndrome
phenotypic diarrhea
syndromic diarrhea
trichohepatoenteric syndrome 1
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15.
THES1
trichohepatoenteric syndrome 2
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33.
THES2
familial chylomicronemia syndrome
A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.
familial hyperlipidemia
A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.
familial hyperlipoproteinemia
hyperlipemia
hyperlipidaemia
familial apolipoprotein C-II deficiency
A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32.
C-II anapolipoproteinemia
familial APOC2 deficiency
familial apoC-II deficiency
hyperlipoproteinemia, type 1b
hyperlipoproteinemia, type Ib
familial chylomicronemia due to inhibition of lipoprotein lipase activity
A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase.
familial GPIHBP1 deficiency
A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3.
familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
hyperlipoproteinemia type 1D
hyperlipoproteinemia type ID
familial apolipoprotein A5 deficiency
A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3.
familial APOA5 deficiency
familial apolipoprotein A-V deficiency
familial lipase maturation factor 1 deficiency
A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.
LPL and HL deficiency
LPL and HTGL deficiency
combined lipase deficiency
familial LMF1 deficiency
lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
branchiootorenal syndrome 1
A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3.
BOR1
branchiootorenal syndrome
A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
Branchio-Oto-renal syndrome
Branchio-otorenal dysplasia
Melnick-Fraser syndrome
branchiootorenal dysplasia
branchiootorenal syndrome 2
A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32.
BOR2
familial restrictive cardiomyopathy 1
A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42.
RCM1
restrictive cardiomyopathy 1
familial restrictive cardiomyopathy 2
A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3.
RCM2
restrictive cardiomyopathy 2
familial restrictive cardiomyopathy 3
A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1.
RCM3
restrictive cardiomyopathy 3
essential tremor 1
An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31.
ETM1
hereditary essential tremor 1
essential tremor 2
An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22.
ETM2
hereditary essential tremor 2
essential tremor 3
An essential tremor that has_material_basis_in variation in a region on chromosome 6p23.
ETM3
hereditary essential tremor 3
essential tremor 4
An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2.
ETM4
hereditary essential tremor 4
essential tremor 5
An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1.
ETM5
hereditary essential tremor 5
optic atrophy 3
An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32.
ADOAC
OPA3
autosomal dominant optic atrophy 3
autosomal dominant optic atrophy and cataract
autosomal dominant optic atrophy type 3
optic atrophy 3 with cataract
optic atrophy 10
An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21.
OPA10
optic atrophy 10 with or without ataxia, mental retardation, and seizures
optic atrophy 6
An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.
OPA6
optic atrophy 11
An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1.
OPA11
optic atrophy 7
An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
OPA7
optic atrophy 7 with or without auditory neuropathy
optic atrophy 5
An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.
OPA5
optic atrophy 8
An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22.
OPA8
optic atrophy 4
An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.
OPA4
optic atrophy 1
An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
OPA1
optic atrophy 9
An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2.
OPA9
optic atrophy 2
An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21.
OPA2
X-linked optic atrophy 2
progressive myoclonus epilepsy 4
A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.
AMRF
EPM4
Myoclonus-nephropathy syndrome
action myoclonus-renal failure syndrome
OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
progressive myoclonus epilepsy
A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.
PME
progressive myoclonic epilepsy
progressive myoclonus epilepsy 10
A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21.
EPM10
early-onset Lafora body disease
progressive myoclonus epilepsy 3
A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21.
CLN14 disease
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
neuronal ceroid lipofuscinosis 14
progressive myoclonus epilepsy 7
A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
EPM7
MEAK
Myoclonus epilepsy and ataxia due to potassium channel mutation
PME type 7
Progressive myoclonic epilepsy due to KV3.1 deficiency
Progressive myoclonus epilepsy type 7
progressive myoclonus epilepsy 1B
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.
EPM1B
Unverricht-Lundborg syndrome
A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
Unverricht - Lundborg disease
Unverricht's disease
Unverricht-Lundborg disease
progressive myoclonus epilepsy 6
A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32.
EPM6
GOSR2-related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
PME type 6
Progressive myoclonus epilepsy type 6
progressive myoclonus epilepsy 9
A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.
EMP9
PME type 9
progressive myoclonic epilepsy due to LMNB2 deficiency
progressive myoclonus epilepsy type 9
progressive myoclonus epilepsy 8
A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.
EMP8
PME type 8
progressive myoclonic epilepsy due to CERS1 deficiency
progressive myoclonus epilepsy type 8
progressive myoclonus epilepsy 1A
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
EPM1A
2-aminoadipic 2-oxoadipic aciduria
An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.
AMOXAD
alpha-aminoadipic aciduria
SHORT syndrome
A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
Aarskog-Ose-Pande syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
GRACILE syndrome
A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
FLNMS
Fellman disease
Finnish lactic acidosis with hepatic hemosiderosis
Finnish lethal neonatal metabolic syndrome
growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
Kaufman oculocerebrofacial syndrome
A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11.
blepharophimosis ptosis intellectual disability syndrome
oculocerebrofacial syndrome, Kaufman type
STING-associated vasculopathy with onset in infancy
An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.
SAVI
galactose epimerase deficiency
A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11.
GALE deficiency
GALE-D
UDP-galactose-4-epimerase deficiency
epimerase deficiency galactosemia
galactosemia III
galactosemia type 3
uridine diphosphate galactose-4-epimerase deficiency
classic galactosemia
A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
GALT deficiency
galactose-1-phosphate uridyltransferase deficiency
galactosemia type 1
cardiofaciocutaneous syndrome 1
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
CFC1
cardiofaciocutaneous syndrome 2
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1.
CFC2
cardiofaciocutaneous syndrome 3
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.
CFC3
cardiofaciocutaneous syndrome 4
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.
CFC4
combined oxidative phosphorylation deficiency 35
A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2.
COXPD35
combined oxidative phosphorylation deficiency 21
A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2.
COXPD21
combined oxidative phosphorylation deficiency 38
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1.
COXPD38
combined oxidative phosphorylation deficiency 13
A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1.
COXPD13
combined oxidative phosphorylation deficiency 25
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.
COXPD25
combined oxidative phosphorylation deficiency 16
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.
COXPD16
infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
combined oxidative phosphorylation deficiency 28
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.
COXPD28
neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
combined oxidative phosphorylation deficiency 30
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.
COXPD30
combined oxidative phosphorylation deficiency 9
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1.
COXPD9
combined oxidative phosphorylation deficiency 5
A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.
COXPD5
hypotonia with lactic acidemia and hyperammonemia
combined oxidative phosphorylation deficiency 1
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.
COXPD1
early fatal progressive hepatoencephalopathy
hepatoencephalopathy due to COXPD1
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
combined oxidative phosphorylation deficiency 39
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3.
COXPD39
combined oxidative phosphorylation deficiency 19
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1.
COXPD19
severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
combined oxidative phosphorylation deficiency 14
A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1.
COXPD14
combined oxidative phosphorylation deficiency 20
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33.
COXPD20
combined oxidative phosphorylation deficiency 8
A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1.
COXPD8
combined oxidative phosphorylation deficiency 10
A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.
COXPD10
infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
combined oxidative phosphorylation deficiency 11
A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1.
COXPD11
infantile encephaloneuromyopathy due to mitochondrial translation defect
combined oxidative phosphorylation deficiency 36
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3.
COXPD36
combined oxidative phosphorylation deficiency 2
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2.
COXPD2
agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
combined oxidative phosphorylation deficiency 18
A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11.
COXPD18
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
combined oxidative phosphorylation deficiency 24
A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.
COXPD24
combined oxidative phosphorylation deficiency 3
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.
COXPD3
Fatal mitochondrial disease due to COXPD3
concentric cardiomyopathy, hypotonia, and lactic acidosis
encephalomyopathy, respiratory failure, and lactic acidosis
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
combined oxidative phosphorylation deficiency 7
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.
COXPD7
severe C12ORF65-related COXPD
severe C12ORF65-related combined oxidative phosphorylation defect
combined oxidative phosphorylation deficiency 31
A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12.
COXPD31
lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
combined oxidative phosphorylation deficiency 27
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34.
COXPD27
combined oxidative phosphorylation deficiency 26
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1.
COXPD26
combined oxidative phosphorylation deficiency 15
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.
COXPD15
combined oxidative phosphorylation deficiency 32
A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3.
COXPD32
combined oxidative phosphorylation deficiency 12
A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2.
COXPD12
LTBL
leukoencephalopathy with thalamus and brainstem involvement and high lactate
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
combined oxidative phosphorylation deficiency 4
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2.
COXPD4
combined oxidative phosphorylation deficiency 33
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.
COXPD33
combined oxidative phosphorylation deficiency 17
A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.
COXPD17
combined oxidative phosphorylation deficiency 34
A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1.
COXPD34
syndromic sensorineural deafness due to COXPD
syndromic sensorineural deafness due to combined oxidative phosphorylation defect
syndromic sensorineural hearing loss due to COXPD
combined oxidative phosphorylation deficiency 22
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.
COXPD22
combined oxidative phosphorylation deficiency 37
A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.
COXPD37
combined oxidative phosphorylation deficiency 23
A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.
COXPD23
combined oxidative phosphorylation deficiency 29
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.
COXPD29
combined oxidative phosphorylation deficiency 6
A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
COXPD6
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
severe X-linked mitochondrial encephalomyopathy
Li-Fraumeni syndrome 1
A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.
LFS1
Li-Fraumeni syndrome
A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
LFS
Li-Fraumeni Familiar cancer Susceptibility syndrome
SBLA syndrome
sarcoma, breast, leukaemia and adrenal gland syndrome
Li-Fraumeni syndrome 2
A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.
LFS2
tumor predisposition syndrome 4
palmoplantar keratoderma-deafness syndrome
A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.
PPK-deafness syndrome
keratoderma palmoplantar deafness
palmoplantar hyperkeratosis-deafness syndrome
palmoplantar hyperkeratosis-hearing loss syndrome
palmoplantar keratoderma with deafness
palmoplantar keratoderma-hearing loss syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.
Bennion-Patterson syndrome
Howell-Evans syndrome
TOC
keratosis palmaris et plantaris with esophageal cancer
keratosis palmoplantaris-esophageal carcinoma syndrome
palmoplantar hyperkeratosis-esophageal carcinoma syndrome
palmoplantar keratoderma with esophageal cancer
tylosis with esophageal cancer
tylosis-oesophageal carcinoma syndrome
Lenz-Majewski hyperostotic dwarfism
A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
Lenz-Majewski syndrome
Torrance type platyspondylic dysplasia
An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
PLSD-T
PLSDT
lethal short-limbed platyspondylic dwarfism, Torrance type
platyspondylic dysplasia, Torrance-Luton type
platyspondylic lethal skeletal dysplasia, Torrance type
thanatophoric dysplasia, Torrance variant
lymphedema-distichiasis syndrome
A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.
LPHDST
lymphedema with distichiasis
Marshall syndrome
An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.
MRSHS
deafness, myopia, cataract, saddle nose-Marshall type
melanoma and neural system tumor syndrome
A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.
melanoma-astrocytoma syndrome
metachondromatosis
An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.
METCDS
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.
metaphyseal dysplasia maxillary hypoplasia brachydactyly
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
metatropic dysplasia
A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
metatropic dwarfism
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.
PEOB2
adult-onset CPEO with mitochondrial myopathy
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
autosomal recessive progressive external ophthalmoplegia 2
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.
PEOB4
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
autosomal recessive progressive external ophthalmoplegia 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.
PEOA2
autosomal dominant progressive external ophthalmoplegia 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.
PEOA5
autosomal dominant progressive external ophthalmoplegia 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.
DNA2-related mitochondrial DNA deletion syndrome
PEOA6
autosomal dominant progressive external ophthalmoplegia 6
mitochondrial DNA deletion syndrome with limb-girdle weakness
mitochondrial DNA deletion syndrome with progressive myopathy
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31.
PEOA3
autosomal dominant progressive external ophthalmoplegia 3
autosomal dominant progressive external ophthalmoplegia 1
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1.
PEOA1
autosomal recessive progressive external ophthalmoplegia 1
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.
PEOB1
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.
PEOB3
autosomal recessive progressive external ophthalmoplegia 3
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.
PEOB5
autosomal recessive progressive external ophthalmoplegia 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.
PEOA4
autosomal dominant progressive external ophthalmoplegia 4
Mullerian aplasia and hyperandrogenism
A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12.
Mullerian duct failure and hyperandrogenism
WNT4 deficiency
disorder of sexual development
A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
sex development disorder
sex differentiation disease
spinal muscular atrophy with progressive myoclonic epilepsy
A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.
Jankovic-Rivera syndrome
SMA-PME
SMAPME
hereditary myoclonus-progressive distal muscular atrophy syndrome
Naegeli-Franceschetti-Jadassohn syndrome
A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.
NFJ syndrome
Naegeli syndrome
familial multiple nevi flammei
A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover.
CMC
congenital capillary malformations
familial multiple port-wine stains
capillary disease
A vascular disease that is located_in the capillaries.
disease of capillaries
linear nevus sebaceous syndrome
A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
JNP
Jadassohn nevus phakomatosis
SFM syndrome
Schimmelpenning Feuerstein Mims syndrome
Schimmelpenning syndrome
Solomon syndrome
nevus sebaceus of Jadassohn
nevus sebaceus syndrome
organoid nevus phakomatosis
organoid nevus syndrome
bilateral optic nerve hypoplasia
An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
ONH
familial bilateral optic nerve hypoplasia
isolated optic nerve hypoplasia/aplasia
osteoglophonic dysplasia
An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.
Fairbank-Keats syndrome
OGD
osteoglophonic dwarfism
gnathodiaphyseal dysplasia
An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3.
GDD
Levin syndrome 2
gnathodiaphyseal sclerosis
osteogenesis imperfecta with unusual skeletal lesions
osteogenesis imperfecta, Levin type
multicentric carpotarsal osteolysis syndrome
A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.
MCTO
autosomal dominant multicentric osteolysis
hereditary osteolysis of carpal bones with or without nephropathy
idiopathic multicentric osteolysis with or without nephropathy
multicentric carpo-tarsal osteolysis with or without nephropathy
multicentric osteolysis nephropathy
progressive osseous heteroplasia
A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
POH
ectopic ossification familial type
familial ectopic ossification
osteoma cutis
Buschke-Ollendorff syndrome
A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.
BOS
dermatofibrosis lenticularis disseminata with osteopoikilosis
dermatoosteopoikilosis
disseminated dermatofibrosis with osteopoikilosis
osteopathia condensans disseminata
paroxysmal extreme pain disorder
An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3.
PEPD
PEXPD
familial rectal pain
submandibular, ocular and rectal pain with flushing
paramyotonia congenita of Von Eulenburg
A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.
Eulenburg disease
PMC
Von Eulenburg paramyotonia congenita
myotonia congenita intermittens
paralysis periodica paramyotonica
paramyotonia congenita
parastremmatic dwarfism
An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
parastremmatic dysplasia
prolidase deficiency
An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.
hyperimidodipeptiduria
imidodipeptidase deficiency
peptidase deficiency
pigmented paravenous chorioretinal atrophy
An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3.
PPRCA
familial expansile osteolysis
A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33.
FEO
McCabe disease
hereditary expansile polyostotic osteolytic dysplasia
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.
JP-HHT
Guttmacher syndrome
A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.
autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias
preaxial deficiency-postaxial polydactyly-hypospadias syndrome
familial male-limited precocious puberty
An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
FMPP
familial gonadotropin-independent male-limited sexual precocity
male-limited precocious puberty
testotoxicosis
Currarino syndrome
A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3.
Currarino triad
retinal arterial tortuosity
An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.
RATOR
retinal arteriolar tortuosity
retinal hemorrhage with vascular tortuosity
tortuosity of retinal arteries
ring dermoid of cornea
A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
RDC
ring dermoid syndrome
aplasia of lacrimal and salivary glands
A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.
ALSG
congenital absence of lacrimal puncta and salivary glands
scalp-ear-nipple syndrome
An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2.
Finlay-Marks syndrome
SENS
Sen Syndrome
hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
neurogenic scapuloperoneal syndrome Kaeser type
A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.
Kaeser syndrome
Stark-Kaeser syndrome
scapuloperoneal syndrome type Kaeser
scapuloperoneal syndrome, neurogenic, Kaeser type
scapuloperoneal spinal muscular atrophy
A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
SPSMA
neurogenic scapuloperoneal amyotrophy, New England type
scapuloperoneal neuronopathy
motor neuron disease
A neurodegenerative disease that is located_in the motor neurons.
spondyloepiphyseal dysplasia Maroteaux type
An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Brachyolmia Type 2
Pseudo-Morquio syndrome type 2
SED, Maroteaux type
spondyloepiphyseal dysplasia of Maroteaux
spondylometaphyseal dysplasia Kozlowski type
A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Jequier Kozlowski skeletal dysplasia
Jequier-Kozlowski syndrome
SMD Kozlowski type
dysmorphism arthrogryposis skeletal maturation advanced
skeletal dysplasia Jequier-Kozlowski type
spondylometaphyseal dysplasia
An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions.
Alkuraya-Kucinskas syndrome
A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27.
ALKKUCS
steatocystoma multiplex
A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2.
multiple sebaceous cysts
sebocystomatosis
sebaceous gland disease
A skin disease that is located_in the sebaceous gland.
Charcot-Marie-Tooth disease type 2A2B
A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
AR-CMT2, Ouvrier type
CMT2A2B
Charcot-Marie-Tooth disease, axonal, type 2A2B
SEOAN due to MFN2 deficiency
autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
severe early-onset axonal neuropathy due to MFN2 deficiency
Charcot-Marie-Tooth disease type 2DD
A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.
ATP1A1-related CMT2
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
CMT2DD
Charcot-Marie-Tooth disease, axonal, type 2DD
Charcot-Marie-Tooth neuropathy, type 2DD
Charcot-Marie-Tooth disease type 2EE
A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3.
CMT2EE
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease type 1G
A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13.
CMT1G
PMP2-related CMT1
PMP2-related Charcot-Marie-Tooth disease type 1
PMP2-related Charcot-Marie-Tooth neuropathy type 1
PMP2-related hereditary motor and sensory neuropathy type 1
stiff skin syndrome
A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1.
SSKS
overhydrated hereditary stomatocytosis
A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3.
OHS
potassium sodium disorder of erythrocyte
stomatocytosisIOHST
macrocytic anemia
An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).
ANEMIA MACROCYTIC
Macrocytic anaemia
Sturge-Weber syndrome
A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
encephalofacial angiomatosis
encephalotrigeminal angiomatosis
fourth phacomatosis
leptomeningeal angiomatosis
meningeal capillary angiomatosis
hypoplastic or aplastic tibia with polydactyly
A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Werner mesomelic syndrome
absence of tibia with polydactyly
absent tibia-polydactyly syndrome
hypoplastic tibiae-postaxial polydactyly syndrome
tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
trichodontoosseous syndrome
A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33.
TDO syndrome
tricho-dento-osseous syndrome
familial isolated trichomegaly
An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21.
TCMGLY
long eyelashes
eyelid disease
An adnexa disease that is located_in the eyelid.
retinal vasculopathy with cerebral leukodystrophy
A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31.
CRV
RVCL
RVCL-S
hereditary cerebroretinal vasculopathy
retinal vasculopathy and cerebral leukoencephalopathy
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
congenital vertical talus
A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1.
CVT
congenital convex foot
congenital convex pes valgus
congenital rocker-bottom foot
rocker-bottom foot deformity
autosomal dominant vitreoretinochoroidopathy
A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3.
ADVIRC
VRCP autosomal dominant
vitreoretinochoroidopathy dominant
vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos
snowflake vitreoretinal degeneration
An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.
SVD
vitreoretinal degeneration, snowflake type
eye degenerative disease
Weyers acrofacial dysostosis
An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.
Curry-Hall syndrome
WAD
Weyers acrodental dysostosis
acrofacial dysostosis, Weyers type
familial woolly hair syndrome
A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends.
familial wooly hair syndrome
hereditary woolly hair syndrome
hereditary wooly hair syndrome
woolly hair
wooly hair
autosomal dominant woolly hair
A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13.
ADWH
autosomal recessive woolly hair 3
A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2.
ARWH3
dehydrated hereditary stomatocytosis
A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes.
hereditary desiccytosis
hereditary xerocytosis
dehydrated hereditary stomatocytosis 1
A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.
PSHK1
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
pseudohyperkalemia edinburgh
pseudohyperkalemia familial 1, due to red cell leak
dehydrated hereditary stomatocytosis 2
A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
desiccytosis Gardos
xerocytosis Gardos
Gillespie syndrome
A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.
GLSP
aniridia, cerebellar ataxia and mental deficiency
aniridia-cerebellar ataxia-intellectual disability syndrome
asthma, nasal polyps, and aspirin intolerance
A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.
ASA triad
Behr syndrome
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
Abortive cerebellar ataxia (BEHRS)
BEHRS
optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
optic atrophy, infantile hereditary, Behr complicated form of
C syndrome
A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2.
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
trigonocephaly C syndrome
hereditary arterial and articular multiple calcification syndrome
A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3.
CALJA
arterial calcification and distal joint calcification
arterial calcification due to CD73 deficiency
arterial calcification due to deficiency of CD73
calcification of joints and arteries
carboxypeptidase N deficiency
A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.
anaphylotoxin inactivator deficiency
deficiency of carboxypeptidase B
plasma protein metabolism disease
An inherited metabolic disorder that involves plasma protein metabolism malfunction.
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
Malouf syndrome
Najjar syndrome
cardiogenital syndrome
cardiomyopathy eith primary testicular failure
congestive cardiomyopathy with hypergonadotropic hypogonadism
dilated cardiomyopathy with hypergonadotropic hypogonadism
dilated cardiomyopathy with premature ovarian failure
genital anomaly with cardiomyopathy
carnitine-acylcarnitine translocase deficiency
A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.
CACT deficiency
CACTD
Martsolf syndrome
A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
cataract-intellectual disability-hypogonadism syndrome
Gordon Holmes syndrome
An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.
CAHH
GDHS
LHRH deficiency and ataxia
cerebellar ataxia-hypogonadism syndrome
luteinizing hormone-releasing hormone deficiency with ataxia
Greenberg dysplasia
An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.
GRBGD
Greenberg skeletal dysplasia
HEM dysplasia
Skeletal dysplasia, Greenberg type
autosomal recessive lethal chondrodystrophy with congenital hydrops
hydrops, ectopic calcification, moth-eaten skeletal dysplasia
hydrops-ectopic calcification-motheaten syndrome
COACH syndrome
A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect
cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Cohen syndrome
A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2.
COH1
Hypotonia, obesity, and prominent incisors
Pepper syndrome
congenital heart defects, hamartomas of tongue, and polysyndactyly
A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15.
CHDTHP
Ostravik-Lindemann-Solberg syndrome
heart defect-tongue hamartoma-polysyndactyly syndrome
plasminogen deficiency type I
A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.
hypoplasminogenemia
distal arthrogryposis type 10
A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1.
DA10
plantar flexion contracture
short Achilles tendon
short tendo calcaneus
distal arthrogryposis type 5D
A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1.
DA5D
distal arthrogryposis type 5 without ophthalmoparesis
distal arthrogryposis type 5 without ophthalmoplegia
congenital contractural arachnodactyly
A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.
Beals syndrome
Beals-Hecht syndrome
CCA
arachnodactyly, contractural Beals type
contractures, multiple with arachnodactyly
distal arthrogryposis type 9
ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
distal arthrogryposis type 1
A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.
DA1
digitotalar dysmorphism
distal arthrogryposis type 1A
A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3.
DA1A
distal arthrogryposis type 1B
A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.
DA1B
distal arthrogryposis type 2B
A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
DA2B
Freeman-Sheldon syndrome variant
Sheldon-Hall syndrome
distal arthrogryposis type 2B1
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.
DA2B1
distal arthrogryposis type 2B2
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5.
DA2B2
distal arthrogryposis type 2B3
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
DA2B3
distal arthrogryposis type 2B3 (Sheldon-Hall)
distal arthrogryposis type 7
A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1.
DA7
Dutch-Kentucky syndrome
Hecht syndrome
Hecht-Beals syndrome
mouth, inability to completely open, and short finger-flexor tendons
trismus-pseudocamptodactyly syndrome
Freeman-Sheldon syndrome
A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.
craniocarpotarsal dysplasia
craniocarpotarsal dystrophy
whistling face syndrome
whistling face-windmill vane hand syndrome
distal arthrogryposis type 2A
A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
DA2A
distal arthrogryposis type 2A (Freeman-Sheldon)
autosomal recessive Whistling face syndrome
A Freeman-Sheldon syndrome that has autosomal recessive inheritance.
distal arthrogryposis type 3
A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
DA3
Gordon syndrome
camptodactyly-cleft palate-clubfoot syndrome
distal arthrogryposis multiplex congenita type IIA
distal arthrogryposis type 5
A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
DA5
DAIIB
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
distal arthrogryposis type IIB
distal arthrogryposis with ophthalmoplegia
oculomelic amyoplasia
distal arthrogryposis type 6
A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.
DA6
arthrogryposis and sensorineural deafness
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
familial hand abnormality and sensori-neural deafness
distal arthrogryposis type 4
A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis.
DA4
DAIID
arthrogryposis-severe scoliosis syndrome
distal arthrogryposis type IID
autosomal recessive spinocerebellar ataxia 4
An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21.
SCA24
SCAR4
SCASI
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
spinocerebellar ataxia 24
spinocerebellar ataxia with saccadic intrusions
This disease is not a distinct disease entity and should not be used. The linkage of this disease with 6p23-p21 in the original patients was found to be erroneous and they were found to have mutations in the SLC52A2 gene on chromosome 8q24, which is DOID:0080786. At the same time this error was reported, a second set of patients with a similar phenotype were found to have mutations in PEX6 gene on chromosome 6p21, which is in the original linkage region, and the authors referred to this as SCAR3, but this already exists as DOID:0081433.
obsolete autosomal recessive spinocerebellar ataxia 3
An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.
autosomal recessive spinocerebellar ataxia 23
An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3.
SCAR23
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
autosomal recessive spinocerebellar ataxia 22
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2.
SCAR22
autosomal recessive spinocerebellar ataxia 24
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1.
SCAR24
autosomal recessive spinocerebellar ataxia 27
An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12.
SCAR27
autosomal recessive spinocerebellar ataxia 6
An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.
SCAR6
autosomal recessive spinocerebellar ataxia type 6
infantile-onset autosomal recessive nonprogressive cerebellar ataxia
autosomal recessive spinocerebellar ataxia 8
An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
SYNE1-related autosomal recessive cerebellar ataxia
autosomal recessive ataxia, Beauce type
recessive ataxia of Beauce
combined D-2- and L-2-hydroxyglutaric aciduria
A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21.
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia
D,L-2-hydroxyglutaric aciduria
combined D,L-2-hydroxyglutaric aciduria
combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
corneal dystrophy-perceptive deafness syndrome
A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13.
CDPD
CDPD1
Harboyan syndrome
corneal dystrophy and perceptive deafness
corneal dystrophy with progressive deafness
corneal endothelial dystrophy and perceptive deafness
Temtamy syndrome
A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
Temtamy-Shalash syndrome
craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
dysmorphism, corpus callosum agenesis and colobomas
ACTH-independent macronodular adrenal hyperplasia
A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol.
ACTH-independent macronodular adrenocortical hyperplasia
AIMAH
Cushing syndrome due to macronodular adrenal hyperplasia
MMAD
adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
corticotropin-independent macronodular adrenal hyperplasia
massive macronodular adrenocortical disease
primary macronodular adrenal hyperplasia
ACTH-independent macronodular adrenal hyperplasia 1
An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32.
AIMAH1
ACTH-independent macronodular adrenal hyperplasia 2
An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2.
AIMAH2
ventriculomegaly - cystic kidney disease
A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3.
VMCKD
congenital nephrosis-cerebral ventriculomegaly syndrome
cystic kidney disease with ventriculomegaly
ventriculomegaly with cystic kidney disease
D-glyceric aciduria
An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
D-glycerate kinase deficiency
D-glyceric acidemia
D-glycericacidemia
deficiency of glycerate kinase
non ketotic hyperglycinemia syndrome
DOORS syndrome
A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.
DOOR syndrome
DOORS
autosomal recessive deafness-onychodystrophy syndrome
deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
deafness-onychoosteodystrophy-intellectual disability syndrome
high myopia-sensorineural deafness syndrome
A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1.
DFNMYP
deafness and myopia
deafness and myopia syndrome
dihydropyrimidinase deficiency
A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3.
DPH deficiency
DPYS deficiency
DPYSD
dihydropyrimidinuria
familial erythrocytosis 8
A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.
BPGM deficiency
DPGM deficiency
ECYT8
bisphosphoglycerate mutase deficiency
bisphosphoglyceromutase deficiency
diphosphoglycerate mutase deficiency of erythrocyte
hemolytic anemia due to diphosphoglycerate mutase deficiency
familial erythrocytosis 7
A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.
ECYT7
alpha-globin type erythrocytosis
alpha-globin type polycythemia
familial erythrocytosis 6
A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.
ECYT6
beta-globin type erythrocytosis
beta-globin type polycythemia
congenital sucrase-isomaltase deficiency
A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.
CSID
SI deficiency
congenital sucrase-isomaltose malabsorption
congenital sucrose intolerance
disaccharide intolerance
autosomal recessive nonsyndromic deafness 99
An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12.
DFNB99
autosomal recessive deafness 99
autosomal recessive nonsyndromic deafness 57
An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31.
DFNB57
autosomal recessive deafness 57
autosomal recessive nonsyndromic deafness 113
An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13.
DFNB113
autosomal recessive deafness 113
autosomal recessive nonsyndromic deafness 112
An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2.
DFNB112
autosomal recessive deafness 112
autosomal recessive nonsyndromic deafness 100
An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1.
DFNB100
autosomal recessive deafness 100
autosomal recessive nonsyndromic deafness 109
An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.
DFNB109
autosomal recessive deafness 109
autosomal recessive nonsyndromic deafness 111
An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33.
DFNB111
autosomal recessive deafness 111
autosomal recessive nonsyndromic deafness 94
An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.
DFNB94
autosomal recessive deafness 94
autosomal recessive nonsyndromic deafness 114
An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2.
DFNB114
autosomal recessive deafness 114
autosomal recessive nonsyndromic deafness 115
An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2.
DFNB115
autosomal recessive deafness 115
autosomal recessive nonsyndromic deafness 110
An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12.
DFNB110
autosomal recessive deafness 110
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.
EPRPDC
RE-PED-WC
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp
Rolandic-type focal motor epilepsy and exercise-induced dystonia
congenital lactase deficiency
A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.
CLD
congenital alactasia
congenital alactasia syndrome
congenital lactose intolerance
congenital lactose malabsorption
disaccharide intolerance II
Schopf-Schulz-Passarge syndrome
An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35.
SSPS
eccrine tumors-ectodermal dysplasia
keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
ectopia lentis with ectopia of pupil
An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2.
ectopia lentis et pupillae
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1.
EEM syndrome
EEMS
ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
ectodermal dysplasia 13
An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1.
ECTD13
ectodermal dysplasia 13, hair/tooth type
ectodermal dysplasia 15
An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1.
ECTD15
ectodermal dysplasia 15, hypohidrotic/hair type
ectodermal dysplasia 12
A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11.
ECTD12
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
hypohidrotic ectodermal dysplasia
An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
ectodermal dysplasia 11A
A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.
ECTD11A
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
ectodermal dysplasia 11B
A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.
ECTD11B
ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
pure hair and nail ectodermal dysplasia
An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.
ectodermal dysplasia 9
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13.
ECTD9
ectodermal dysplasia 9, hair/nail type
ectodermal dysplasia 5
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1.
ECTD5
ectodermal dysplasia 5, hair/nail type
ectodermal dysplasia 4
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13.
ECTD4
ectodermal dysplasia 4, hair/nail type
ectodermal dysplasia 6
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2.
ECTD6
ectodermal dysplasia 6, hair/nail type
ectodermal dysplasia 7
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13.
ECTD7
ectodermal dysplasia 7, hair/nail type
ectodermal dysplasia 8
An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.
ECTD8
Fried's tooth and nail syndrome
ectodermal dysplasia 8, hair/tooth/nail type
ectodermal dysplasia 14
An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.
ECTN14
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
hypohidrotic/hair/tooth/nail type
ectodermal dysplasia 10A
A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13.
ECTD10A
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ectodermal dysplasia 1
A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
CST syndrome
Christ-Siemens-Touraine syndrome
ED1
HED1
X-linked anhidrotic ectodermal dysplasia
XHED
XLHED
ectodermal dysplasia 1, anhidrotic
ectodermal dysplasia 1, hypohidrotic, X-linked
ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
hypohidrotic ectodermal dysplasia, X-Linked
ectodermal dysplasia 10B
A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13.
ECTD10B
ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3.
EPV
Fowler syndrome
Fowler vasculopathy
PVHH
cerebral proliferative glomeruloid vasculopathy
encephaloclastic proliferative vasculopathy
hydranencephaly, Fowler type
hydrocephaly/hydranencephaly due to cerebral vasculopathy
proliferative vasculopathy and hydranencephaly/hydrocephaly
enterokinase deficiency
An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.
congenital enterokinase deficiency
congenital enteropathy due to enteropeptidase deficiency
deficiency of enteropeptidase
Kohlschutter-Tonz syndrome
A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.
KTZS
Kohlschutter's syndrome
amelocerebrohypohidrotic syndrome
epilepsy and yellow teeth
epilepsy dementia amelogenesis imperfecta
epilepsy-dementia-amelogenesis imperfecta syndrome
hyaline fibromatosis syndrome
A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.
HFS
inherited systemic hyalinosis
puretic syndrome
systemic hyalinosis
primary hyperoxaluria type 1
A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
HP1
alanine-glyoxylate aminotransferase deficiency
glycolic aciduria
hepatic AGT deficiency
oxalosis I
peroxisomal alanine-glyoxylate aminotransferase deficiency
serine pyruvate aminotransferase deficiency
primary hyperoxaluria
A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
primary hyperoxaluria type 2
A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.
D-glycerate dehydrogenase deficiency
HP2
L-glyceric aciduria
glyoxylate reductase/hydroxypyruvate reductase deficiency
oxalosis II
primary hyperoxaluria type 3
A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.
HP3
PH III
primary hyperoxaluria type III
Saul-Wilson syndrome
A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.
SWILS
microcephalic osteodysplastic dysplasia, Saul-Wilson type
intellectual developmental disorder with short stature and behavioral abnormalities
A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1.
IDDSSBA
neurooculocardiogenitourinary syndrome
A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3.
NOCGUS
high molecular weight kininogen deficiency
A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.
Fitzgerald trait
HMWK deficiency
congenital high-molecular-weight kininogen deficiency
familial benign fleck retina
A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13.
FRFB
hereditary folate malabsorption
A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.
congenital defect of folate absorption
congenital folate malabsorption
glutamate formiminotransferase deficiency
A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3.
Arakawa syndrome 1
FIGLU-uria
FTCD deficiency
formiminoglutamic acidemia
formiminoglutamic aciduria
formiminotransferase cyclodeaminase deficiency
formiminotransferase deficiency syndrome
essential fructosuria
A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.
fructokinase deficiency
hepatic fructokinase deficiency
ketohexokinase deficiency
congenital nonspherocytic hemolytic anemia 7
An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1.
gamma-glutamylcysteine synthetase deficiency
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
cystic renal dysplasia
A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.
CYSRD
diffuse cystic renal dysplasia
renal dysplasia diffuse cystic
susceptibility to cystic renal dysplasia
neurofibromatosis-Noonan syndrome
A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.
NFNS
Noonan neurofibromatosis syndrome
neurofibromatosis type 1-Noonan syndrome
neurofibromatosis with Noonan phenotype
hereditary mixed polyposis syndrome
An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.
HMPS
hereditary mixed polyposis syndrome 1
A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.
CRAC1
HMPS1
chromosome 15q13-q14 duplication syndrome, 40-KB
colorectal adenoma and carcinoma 1
hereditary mixed polyposis syndrome 2
A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2.
HMPS2
Potocki-Shaffer syndrome
A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
11p11.2 deletion
PSS
proximal 11p deletion syndrome
Ayme-Gripp syndrome
A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2.
AYGRP
cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation
familial adult myoclonic epilepsy
An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.
BAFME
FAME
FCMTE
benign adult familial myoclonic epilepsy
benign adult familial myoclonus epilepsy
familial cortical myoclonic tremor and epilepsy
familial adult myoclonic epilepsy 1
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12.
BAFME1
FAME1
FCMTE1
benign adult familial myoclonic epilepsy 1
familial cortical myoclonic tremor and epilepsy 1
familial adult myoclonic epilepsy 5
A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.
FAME5
FCMTE5
early-onset epilepsy 5 with or without developmental delay
familial cortical myoclonic tremor and epilepsy 5
familial adult myoclonic epilepsy 2
A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.
ADCME
BAFME2
FAME2
FCMTE2
autosomal dominant cortical myoclonus and epilepsy
benign adult familial myoclonic epilepsy 2
familial cortical myoclonic tremor and epilepsy 2
familial adult myoclonic epilepsy 4
A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1.
FAME4
FCMTE4
familial cortical myoclonic tremor and epilepsy 4
familial adult myoclonic epilepsy 7
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.
BAFME7
FAME7
FCMTE7
benign adult familial myoclonic epilepsy 7
familial cortical myoclonic tremor and epilepsy 7
familial adult myoclonic epilepsy 3
A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2.
FAME3
FCMTE3
familial cortical myoclonic tremor and epilepsy 3
familial adult myoclonic epilepsy 6
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.
BAFME6
FAME6
FCMTE6
benign adult familial myoclonic epilepsy 6
familial cortical myoclonic tremor and epilepsy 6
cleft palate, cardiac defects, and intellectual disability
A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14.
CPCMR
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
cleft palate, cardiac defects, and mental retardation
proprotein convertase 1/3 deficiency
A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15.
PCI deficiency
obesity and endocrinopathy due to impaired processing of prohormones
obesity due to prohormone convertase I deficiency
obesity with impaired prohormone processing
Van den Ende-Gupta syndrome
A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21.
Marden-Walker-like syndrome
Marden-Walker-like syndrome without psychmotor retardation
VDEGS
blepharophimosis, arachnodactyly, and congenital contractures
ankyrin-B-related cardiac arrhythmia
A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.
ankyrin-B syndrome
long QT syndrome 4
A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.
LQT4
loose anagen hair syndrome
An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age.
loose anagen syndrome
familial hypertryptophanemia
An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1.
HYPTRP
chromosome 2q37 deletion syndrome
A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Albright's hereditary osteodystrophy-like syndrome
BDMR
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
deletion 2q37
monosomy 2q37qter
oculoectodermal syndrome
An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.
Toriello-Lacassie-Droste syndrome
aplasia cutis congenita-epibulbar dermoids syndrome
oblique facial clefting 1
An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23.
Tessier number 4 facial cleft
Bothnian type palmoplantar keratoderma
A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.
PPKB
diffuse palmoplantar keratoderma, Bothnian type
focal nonepidermolytic palmoplantar keratoderma
A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.
FNEPPK
isolated focal non-epidermolytic palmoplantar keratoderma
focal nonepidermolytic palmoplantar keratoderma 1
A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2.
FNEPPK1
focal or diffuse nonepidermolytic palmoplantar keratoderma
A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13.
PPKNEFD
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
focal nonepidermolytic palmoplantar keratoderma 2
A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
FNEPPK2
Kagami-Ogata syndrome
A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32.
KOS
Temple syndrome
A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
Mulchandani-Bhoj-Conlin syndrome
A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.
MBCS
UPD(20)mat
maternal UPD(20)
maternal uniparental disomy of chromosome 20
Schaaf-Yang syndrome
A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.
MAGEL2-related PWLS
MAGEL2-related Prader-Willi-like syndrome
PWLS
SHFYNG
cryptophthalmia
A physical disorder characterized by ocular dysplasia with eyelid malformation.
cryptophthalmos
isolated cryptophthalmia
A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye.
CRYPTOP
unilateral or bilateral isolated cryptophthalmos
partial cryptophthalmia
An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea.
incomplete cryptophthalmos
complete cryptophthalmia
An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket.
congenital symblepharon
An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia.
amelogenesis imperfecta type 3C
An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.
AI3C
amelogenesis imperfecta type IIIC
autosomal recessive amelogenesis imperfecta hypocalcification type
Jacobsen Syndrome
A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.
Jacobsen distal 11q deletion syndrome
chromosome 11q deletion syndrome
partial 11q monosomy syndrome
geleophysic dysplasia
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.
GPHYSD
geleophysic dwarfism
geleophysic dysplasia 1
A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.
GPHYSD1
geleophysic dysplasia 2
A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.
GPHYSD2
geleophysic dysplasia 3
A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1.
GPHYSD3
familial episodic pain syndrome
A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion.
FEPS
familial episodic pain syndrome 1
A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13.
FEPS1
familial episodic pain syndrome 2
A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22.
FEPS2
familial episodic pain syndrome 3
A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
FEPS3
Eiken syndrome
A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
Eiken skeletal dysplasia
bone modeling defect of hands and feet
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.
HDCA
PACHD
Yorifuji-Okuno syndrome
congenital heart defects and other congenital anomalies
congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease
pancreatic agenesis and congenital heart defects
aminoglycoside-induced deafness
A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31.
streptomycin ototoxicity
streptomycin-induced deafness
X-linked deafness 4
An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12.
DFN6
DFNX4
X-linked progressive deafness 6
nonsyndromic sensorineural progressive deafness 6
X-linked deafness 3
An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.
DFN4
DFNX3
congenital sensorineural X-linked deafness 4
X-linked deafness 7
An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1.
DFNX7
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked deafness 1
An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.
DFN2
DFNX1
X-linked sensorineural congenital deafness 2
X-linked deafness 6
An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3.
DFNX6
X-linked deafness 5
A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1.
AUNX1
DFNX5
X-linked HSAN with deafness
X-linked auditory neuropathy 1 with peripheral sensory neuropathy
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
cerebellar ataxia type 42
An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21.
SCA42
cerebellar ataxia type 47
An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2.
PUM1-associated developmental disability-ataxia-seizure syndrome
SCA47
cerebellar ataxia type 41
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27.
SCA41
cerebellar ataxia type 43
An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.
SCA43
cerebellar ataxia type 48
An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3.
SCA48
cerebellar ataxia type 9
An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI.
SCA9
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.
MC5DM1
mitochondrial complex V (ATP synthase) deficiency nuclear type 6
A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33.
MC5DN6
adult-onset ataxia and polyneuropathy
A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.
mitochondrial nonsyndromic sensorineural deafness
A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.
autosomal-mitochondrial sensorineural deafness
A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene.
infantile hypertrophic cardiomyopathy
A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.
Leber plus disease
A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.
LHON plus disease
Leber hereditary optic neuropathy and dystonia
A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.
LDYT
Leber optic atrophy and dystonia
Leber optic atrophy with dystonia
Marsden syndrome
familial dystonia with visual failure and striatal lucencies
Leber hereditary optic neuropathy with demyelinating disease of CNS
A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.
Y-linked deafness
A nonsyndromic deafness characterized by a Y-lnked inheritance mode.
DFNY
Y-linked deafness 2
A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2.
DFNY2
Y-linked deafness 1
A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.
DFNY1
46,XX sex reversal 1
A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome.
SRXX1
46,XX sex reversal 3
A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26.
SRXX3
46,XX sex reversal 2
A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.
SRXX2
chromosome 17q24 duplication syndrome
46,XX sex reversal 4
A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
SRXX4
X-linked cardiac valvular dysplasia
A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
CVD1
Dystrophie valvulaire associee a FLNA
EDS5
Ehlers-Danlos syndrome, type 5
FLNA-related X-linked myxomatous valvular dysplasia
FLNA-related valvular dystrophy
Filamin A-related X-linked myxomatous valvular dysplasia
XMVD
X-linked VACTERL association
A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.
VACTERL association, X-linked with or without hydrocephalus
VACTERLX
VACTERL association
A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
VATER syndrome
X-linked thrombocytopenia with beta-thalassemia
A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.
GATA1-related X-linked cytopenia
XLTT
beta-thalassemia-X-linked thrombocytopenia syndrome
thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
X-linked properdin deficiency
A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.
CFPD
complement factor properdin deficiency
46,XY sex reversal 6
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2.
46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
46,XY sex reversal, partial or complete, MAP3K1-related
SRXY6
The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].
46,XY complete gonadal dysgenesis
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
46 XY gonadal dysgenesis
46,XY sex reversal
Pure gonadal dysgenesis 46,XY
Swyer syndrome
46,XY sex reversal 9
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1.
46,XY sex reversal, ZFPM2-related
SRXY9
46,XY sex reversal 4
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.
46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion
SRXY4
chromosome 9p24.3 deletion syndrome
46,XY sex reversal 3
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
46,XY sex reversal, partial or complete, NR5A1-related
SRXY3
disorder of sex development, 46,XY, NR5A1-related
sex reversal, XY, with or without adrenal failure
46,XY sex reversal 8
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.
SRXY8
TDD
male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
46,XY sex reversal 7
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.
46,XY gonadal dysgenesis, partial or complete, DHH-related
46,XY sex reversal, partial or complete, DHH-related
GDXYM
SRXY7
gonadal dysgenesis, XY, male limited
46,XY sex reversal 10
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24.
SRXY10
chromosome 17q24 deletion syndrome
46,XY sex reversal 5
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.
46,XY gonadal dysgenesis, complete, CBX2-related
46,XY sex reversal, CBX2-related
SRXY5
disorder of sex development, 46,XY, CBX2-related
sex reversal, XY, CBX2-related
46,XY sex reversal 2
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2.
46,XY sex reversal, DAX1-related
46XY sex reversal 2, dosage-sensitive
SRXY2
dosage-sensitive sex reversal
46,XY sex reversal 1
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2.
46,XY gonadal dysgenesis, complete, SRY-related
46,XY sex reversal, SRY-related
SRXY1
X-linked panhypopituitarism
A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1.
PHPX
pituitary dwarfism IV
TARP syndrome
A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3.
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
TARPS
talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Waisman syndrome
A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28.
Laxova-Opitz syndrome
early-onset parkinsonism-intellectual disability syndrome
otopalatodigital syndrome spectrum disorder
A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.
OPD spectrum disorder
OPSD
fronto-otopalatodigital osteodysplasia
otopalatodigital syndrome type 1
An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
OPD I syndrome
OPD syndrome 1
OPD1
Taybi syndrome
oto-palato-digital syndrome type 1
otopalatodigital syndrome type I
otopalatodigital syndrome type 2
An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.
Andre syndrome
OPD II syndrome
OPD syndrome 2
OPD2
faciopalatoosseous syndrome
oto-palato-digital syndrome type 2
otopalatodigital syndrome type II
frontometaphyseal dysplasia
An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.
FMD
frontometaphyseal dysplasia 1
A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.
FMD1
frontometaphyseal dysplasia 2
A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.
FMD2
Melnick-Needles syndrome
An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.
MNS
Melnick-Needles osteodysplasty
osteodysplasty of Melnick and Needles
Frank-Ter Haar syndrome
An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1.
Borrone dermatocardioskeletal syndrome
FTHS
Ter Haar syndrome
autosomal recessive Melnick-Needles syndrome
megalocornea, multiple skeletal anomalies, and developmental delay
congenital nystagmus 1
A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26.
NYS1
X-linked infantile nystagmus 1
congenital motor nystagmus 1
congenital nystagmus
A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.
congenital nystagmus 7
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1.
NYS7
autosomal dominant congenital nystagmus 7
congenital nystagmus 2
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12.
NYS2
autosomal dominant congenital nystagmus 2
congenital motor nystagmus 2
congenital nystagmus 3
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2.
NYS3
autosomal dominant congenital nystagmus 3
obsolete congenital nystagmus 4
A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33.
congenital nystagmus 6
A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2.
NYS6
X-linked congenital nystagmus 6
congenital nystagmus 5
A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4.
NYS5
X-linked congenital nystagmus 5
X-linked nephrolithiasis type I
A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.
NPHL1
X-linked nephrolithiasis with renal failure
X-linked recessive urolithiasis type 1
XRN
nephrolithiasis 1
nephrolithiasis X-linked recessive type 1
In OMIM, a form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by OMIM, merged into type 1 [LS].
syndromic microphthalmia 1
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28.
syndromic microphthalmia 4
Lenz dysplasia
Lenz microphthalmia
Lenz type microphthalmia
MCOPS1
syndromic microphthalmia 12
A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.
MCOPS12
microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
syndromic microphthalmia 3
A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33.
AEG syndrome
MCOPS3
SOX2 anophthalmia syndrome
anophthalmia clinical with associated anomalies
anophthalmia esophageal genital syndrome
anophthalmia microphthalmia esophageal atresia
anophthalmia/microphthalmia-esophageal atresia syndrome
microphthalmia and esophageal atresia syndrome
syndromic microphthalmia type 3
syndromic microphthalmia 14
A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.
MCOPS14
MCSKS
colobomatous microphthalmia-rhizomelic dysplasia syndrome
microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia
microphthalmia/coloboma and skeletal dysplasia syndrome
syndromic microphthalmia 8
A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.
MCOPS8
MMEP syndrome
Viljoen-Smart syndrome
microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
syndromic microphthalmia type 8
syndromic microphthalmia 11
A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.
MCOPS11
syndromic microphthalmia 6
A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.
Bakrania-Ragge syndrome
MCOPS6
anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
microphthalmia and pituitary anomalies
microphthalmia with brain and digit anomalies
syndromic microphthalmia type 6
syndromic microphthalmia 5
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.
MCOPS5
syndromic microphthalmia type 5
syndromic microphthalmia/anophthalmia due to OTX2 mutation
syndromic microphthalmia 9
A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.
Matthew-Wood syndrome
anophthalmia-pulmonary hypoplasia syndrome
anophthalmia/microphthalmia and pulmonary hypoplasia
clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
pulmonary agenesis microphthalmi and diaphragmatic defect
spear syndrome
linear skin defects with multiple congenital anomalies 1
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2.
MCOPS7
MIDAS syndrome
Microphthalmia with linear skin defect syndrome
microphthalmia-dermal aplasia-sclerocornea syndrome
syndromic microphthalmia 7
syndromic microphthalmia type 7
MLS syndrome
A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.
linear skin defects with multiple congenital anomalies
syndromic microphthalmia 2
A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11.
ANOP2
MAA2
MCOPS2
OFCD syndrome
cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
microphthalmia cataracts radiculomegaly and septal heart defects
oculofaciocardiodental syndrome
syndromic microphthalmia type 2
obsolete syndromic microphthalmia 4
A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28.
MCOPS4
syndromic microphthalmia 13
A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.
MCOPS13
Maine microphthalmos
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation
syndromic microphthalmia 10
A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability.
MCOPS10
MOBA
microphthalmia-brain atrophy syndrome
syndactyly type 8
A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1.
fusion of metacarpals 4 and 5
metacarpal 4-5 fusion
methylmalonic acidemia and homocysteinemia cblX type
A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28.
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
mental retardation, X-linked 3
methylmalonic aciduria with homocystinuria, type cblX
low molecular weight proteinuria with hypercalciuric nephrocalcinosis
A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.
syndactyly type 1
A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
SDTY1
chromosome 2q35 duplication syndrome
syndactyly, type 1, with or without craniosynostosis
syndactyly type 3
A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31.
SDTY3
ringand little finger syndactyly
syndactyly of fingers 4 and 5
syndactyly, type III
syndactyly type 4
A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Haas type syndactyly
SDTY4
polysyndactyly, Haas type
syndactyly type 5
A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1.
SDTY5
syndactyly with associated metacarpal and metatarsal fusion
zygodactyly 1
A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement.
ichthyosis follicularis-alopecia-photophobia syndrome 1
A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.
IFAP syndrome 1
IFAP syndrome 1 with or without BRESHECK syndrome
ichthyosis follicularis-atrichia-photophobia syndrome 1
CHILD syndrome
A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28.
CHILD nevus
congenital hemidysplasia with ichthyosiform nevus and limbs defects
autosomal hemophilia A
A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency.
autosomal Factor VIII deficiency
Aarskog syndrome
A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.
faciodigitogenital syndrome
faciogenital dysplasia
autosomal dominant Aarskog syndrome
An Aarskog syndrome characterized by autosomal dominant inheritance.
Abruzzo-Erickson syndrome
A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.
CHARGE-like syndrome, X-linked
cleft palate-coloboma-deafness syndrome
X-linked spinal muscular atrophy 2
A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3.
SMAX2
X-linked distal arthrogryposis multiplex congenita
X-linked spinal muscular atrophy type 2
infantile-onset X-linked spinal muscular atrophy
spinal muscular atrophy with arthrogryposis
X-linked cerebellar ataxia
A hereditary ataxia characterized by X-linked inheritance.
X-linked spinocerebellar ataxia 1
An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.
SCAX1
X-linked progressive cerebellar ataxia
X-linked spinocerebellar ataxia 2
An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.
SCAX2
cerebellar ataxia with extrapyramidal involvement early-onset
X-linked spinocerebellar ataxia 3
An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.
SCAX3
X-linked ataxia-deafness syndrome
X-linked spinocerebellar ataxia type 3
X-linked spinocerebellar ataxia 4
An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.
SCAX4
X-linked ataxia-dementia syndrome
X-linked spinocerebellar ataxia type 4
X-linked spinocerebellar ataxia 5
An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1.
SCAX5
Spinocerebellar Ataxia, X-Linked 5
X-linked non progressive cerebellar ataxia
X-linked reticulate pigmentary disorder
A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
Partington disease
X-linked reticulate pigmentary disorder with systemic manifestations
congenital nongoitrous hypothyroidism 9
A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3.
CHNG9
congenital nongoitrous hypothyroidism 7
A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1.
CHNG7
TRH resistance syndrome
central hypothyroidism due to TRH receptor deficiency
resistance to thyrotropin-releasing hormone syndrome
congenital nongoitrous hypothyroidism 8
A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2.
CHNG8
Basilicata-Akhtar syndrome
A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.
MRXS36
X-linked syndromic mental retardation 36
X-linked syndromic mental retardation Basilicata-Akhtar type
congenital disorder of glycosylation Icc
A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1.
congenital disorder of glycosylation type Icc
Van Esch-O'Driscoll syndrome
A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
MRXSVEOD
VEODS
X-linked intellectual disability, Van Esch type
X-linked syndromic mental retardation Van Esch-O'Driscoll type
Shukla-Vernon syndrome
A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1.
SHUVER
Keipert syndrome
A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
KPTS
nasodigitoacoustic syndrome
Paganini-Miozzo syndrome
A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2.
MRXSPM
X-linked intellectual developmental disorder 108
A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3.
MRX108
Mullegama-Klein-Martinez syndrome
A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.
MKMS
NEDXCF
X-linked neurodevelopmental disorder with craniofacial abnormalities
X-linked congenital hemolytic anemia
A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1.
congenital hemolytic anemia
congenital hemolytic anaemia
hereditary hemolytic anaemia
hereditary hemolytic anemia
osteogenesis imperfecta type 19
An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.
OI19
osteogenesis imperfecta type XIX
osteogenesis imperfecta type 18
An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.
OI18
osteogenesis imperfecta, type XVIII
osteogenesis imperfecta type 20
An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.
OI20
osteogenesis imperfecta type XX
primary ciliary dyskinesia 36
A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3.
CILD36
X-linked primary ciliary dyskinesia 36
primary ciliary dyskinesia 44
A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
CILD44
primary ciliary dyskinesia 44 without situs inversus
primary ciliary dyskinesia 38
A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1.
CILD38
primary ciliary dyskinesia 38 with or without situs inversus
primary ciliary dyskinesia 40
A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12.
CILD40
primary ciliary dyskinesia 40 with or without situs inversus
primary ciliary dyskinesia 39
A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
CILD39
primary ciliary dyskinesia 39 with or without situs inversus
primary ciliary dyskinesia 42
A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.
CILD42
primary ciliary dyskinesia 42 without situs inversus
primary ciliary dyskinesia 43
A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.
CILD43
primary ciliary dyskinesia 43 with or without situs inversus
primary ciliary dyskinesia 45
A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.
CILD45
primary ciliary dyskinesia 45 without situs inversus
primary ciliary dyskinesia 41
A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
CILD41
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23.
MFHIEN
AMME complex
A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.
AMME syndrome
ATS-MR
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
chromosome Xq22.3 telomeric deletion syndrome
Meester-Loeys syndrome
A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.
MRLS
congenital bilateral absence of vas deferens
A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.
CAVD
CBAVD
congenital bilateral agenesis of vas deferens
congenital bilateral aplasia of vas deferens
X-linked congenital bilateral absence of vas deferens
A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13.
CBAVDX
autosomal recessive congenital bilateral absence of vas deferens
A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2.
MEND syndrome
A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.
male EBP disorder with neurological defects
trichothiodystrophy
A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
TTD
nonphotosensitive trichothiodystrophy 5
A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
TTD5
photosensitive trichothiodystrophy 2
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.
TTD2
photosensitive trichothiodystrophy
A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
IBIDS syndrome
TTD-P
Tay syndrome
sulfur-deficient brittle hair syndrome
trichothiodystrophy with congenital ichthyosis
nonphotosensitive trichothiodystrophy 7
A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3.
TTD7
photosensitive trichothiodystrophy 3
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.
TTD3
trichothiodystrophy complementation group A
nonphotosensitive trichothiodystrophy 6
A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.
TTD6
photosensitive trichothiodystrophy 1
A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.
TTD1
Sabinas brittle hair syndrome
A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.
brittle hair-mental deficiency syndrome
trichothiodystrophy type B
linear skin defects with multiple congenital anomalies 3
A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3.
LSDMCA3
linear skin defects with cardiomyopathy and other congenital anomalies
linear skin defects with multiple congenital anomalies 2
A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.
APLCC
LSDMCA2
aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies
Diamond-Blackfan anemia 7
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11.
DBA7
RPL11-related Diamond-Blackfan anemia
Diamond-Blackfan anemia
A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
Blackfan - Diamond syndrome
chronic constitutional pure red cell anaemia
Diamond-Blackfan anemia 6
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1.
DBA6
RPL5-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 17
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3.
DBA17
RPS27-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 8
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3.
DBA8
RPS7-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 12
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2.
DBA12
RPL15-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 5
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29.
DBA5
RPL35A-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 9
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31.
DBA9
RPS10-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 2
A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22.
DBA2
Diamond-Blackfan anemia 19
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3.
DBA19
RPL35-related Diamond-Blackfan anemia
Diamond-blackfan anemia 3
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3.
DBA3
RPS24-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 10
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2.
DBA10
RPS26-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 13
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3.
DBA13
RPS29-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 4
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2.
DBA4
RPS17-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 20
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3.
DBA20
RPS15A-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 11
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1.
DBA11
RPL26-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 16
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31.
DBA16
RPL27-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2.
DBA15
Diamond-Blackfan anemia 1
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2.
DBA1
RPS19-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 18
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
DBA18
RPL18-related Diamond-Blackfan anemia
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22.
DBA14
CK syndrome
A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28.
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
X-linked thrombophilia due to factor IX defect
A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.
THPH8
thrombophilia
A blood coagulation disease that is characterized by an increased tendency to form clots.
hypercoagulability state
autosomal dominant thrombophilia due to protein S deficiency
A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
THPH5
protein S deficiency
A thrombophilia that is characterized by increased risk of developing abnormal blood clots.
Protein S deficiency disease
heparin cofactor II deficiency
A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.
HCF 2 deficiency
HCF II deficiency
THPH10
thrombophilia due to heparin cofactor II deficiency
thrombophilia due to activated protein C resistance
A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.
APC resistance
PCCF deficiency
PROC cofactor deficiency
THPH2
activated protein C resistance
thrombophilia V
thrombophilia due to deficiency of activated protein C cofactor
thrombophilia due to HRG deficiency
A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3.
THPH11
hereditary thrombophilia due to congenital HRG deficiency
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
autosomal recessive thrombophilia due to protein C deficiency
A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.
THPH4
autosomal recessive PROC deficiency
autosomal recessive protein C deficiency
protein C deficiency
A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
autosomal recessive thrombophilia due to protein S deficiency
A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.
THPH6
autosomal recessive thrombophilia due to congenital protein S deficiency
severe hereditary thrombophilia due to congenital protein S deficiency
thrombophilia due to decreased release of PLAT
A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls.
THPH9
thrombophilia due to thrombomodulin defect
A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.
THBD-related bleeding disorder
THBD-related coagulopathy
THPH12
thrombomodulin-related bleeding disorder
thrombomodulin-related coagulopathy
autosomal dominant thrombophilia due to protein C deficiency
A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.
THPH3
autosomal dominant PROC deficiency
autosomal dominant protein C deficiency
spermatogenic failure 34
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1.
SPGF34
spermatogenic failure 41
A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2.
SPGF41
spermatogenic failure 30
A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33.
SPGF30
spermatogenic failure 35
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1.
SPGF35
spermatogenic failure 33
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31.
SPGF33
spermatogenic failure 28
A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2.
SPGF28
spermatogenic failure 43
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2.
SPGF43
spermatogenic failure 40
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35.
SPGF40
spermatogenic failure 38
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21.
SPGF38
spermatogenic failure 25
A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12.
SPGF25
spermatogenic failure 36
A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2.
SPGF36
spermatogenic failure 31
A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2.
SPGF31
spermatogenic failure 42
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22.
SPGF42
spermatogenic failure 26
A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2.
SPGF26
spermatogenic failure 32
A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3.
SPGF32
spermatogenic failure 39
A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3.
SPGF39
spermatogenic failure 37
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2.
SPGF37
spermatogenic failure 27
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2.
SPGF27
spermatogenic failure 24
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13.
SPGF24
spermatogenic failure 29
A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12.
SPGF29
syndactyly-telecanthus-anogenital and renal malformations syndrome
A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28.
STAR syndrome
syndactyly with renal and anogenital malformations
toe syndactyly, telecanthus, and anogenital and renal malformations
severe congenital encephalopathy due to MECP2 mutation
A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
neonatal severe encephalopathy due to MECP2 mutations
severe neonatal-onset encephalopathy with microcephaly
phosphoglycerate kinase 1 deficiency
A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.
GSD due to phosphoglycerate kinase 1 deficiency
PGK1 deficiency
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
glycogenosis due to phosphoglycerate kinase 1 deficiency
immunodeficiency 38
A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33.
IMD38
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
autosomal recessive ISG15 deficiency
immunodeficiency 38 with basal ganglia calcification
immunodeficiency 38, mycobacteriosis, autosomal recessive
immunodeficiency 16
A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33.
IMD16
OX40 deficiency
combined immunodeficiency due to OX40 deficiency
combined immunodeficiency with childhood-onset Kaposi sarcoma
combined immunodeficiency with impaired immunity to HHV-8
combined immunodeficiency with impaired immunity to human herpes virus 8
immunodeficiency 14
A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22.
APDS
IMD14
PASLI disease
activated PI3K-delta syndrome
senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
immunodeficiency 22
A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
IMD22
SCID due to LCK deficiency
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
severe combined immunodeficiency due to LCK deficiency
severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
immunodeficiency 24
A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2.
IMD24
SCID due to CTPS1 deficiency
severe combined immunodeficiency due to CTPS1 deficiency
immunodeficiency 37
A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3.
IMD37
immunodeficiency 42
A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.
IMD42
autosomal recessive MSMD due to complete RORgamma receptor defiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
autosomal recessive primary immunodeficiency due to RORC mutation
immunodeficiency 20
A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.
CD16 deficiency
IMD20
autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
immunodeficiency 25
A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2.
IMD25
immunodeficiency due to defect in CD3-zeta
immunodeficiency 48
A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.
IMD48
combined immunodeficiency due to ZAP70 deficiency
zeta-associated-protein 70 deficiency
immunodeficiency 31B
A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
IMD31B
autosomal recessive STAT1 deficiency
autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
predisposition to severe viral infection due to STAT1 deficiency
susceptibility to viral and mycobacterial infections due to STAT1 deficiency
immunodeficiency 31A
A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
IMD31A
MSMD due to partial STAT1 deficiency
MSMD due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
autosomal dominant immunodeficiency 31A, mycobacteriosis
immunodeficiency 31C
A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2.
CANDF7
IMD31C
autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
autosomal dominant chronic mucocutaneous familial candidiasis
autosomal dominant immunodeficiency 31C
familial candidiasis 7
immunodeficiency 21
A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.
DCML
GATA2 deficiency
IMD21
MonoMAC
combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
dendritic cell, monocyte, B and NK lymphoid deficiency
monocyte-B-natural killer-dendritic cell deficiency syndrome
monocytopenia and mycobacterial infection syndrome
monocytopenia with susceptibility to infections
immunodeficiency 46
A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.
CID due to TFRC deficiency
IMD46
TFRC-related combined immunodeficiency
combined immunodeficiency due to TFRC deficiency
immunodeficiency 36
A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
IMD36
activated phosphoinositide 3-kinase delta syndrome 2
immunodeficiency-36 with lymphoproliferation
immunodeficiency 29
A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3.
IL12B deficiency
IMD29
MSMD due to complete IL12B deficiency
MSMD due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
immunodeficiency 29, mycobacteriosis
immunodeficiency 40
A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
DOCK2 deficiency
IMD40
immunodeficiency 57
A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2.
IMD57
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
immunodeficiency 57 with autoinflammation
immunodeficiency 23
A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1.
CID due to PGM3 deficiency
IMD23
PGM3-CDG
PGM3-related congenital disorder of glycosylation
combined immunodeficiency due to PGM3 deficiency
immunodeficiency 60
A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15.
BACH2-related immunodeficiency and autoimmunity
BRIDA
IMD60
immunodeficiency 27A
A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
IMD27A
autosomal recessive IFNGR1 deficiency
autosomal recessive MSMD due to partial IFNgammaR1 deficiency
autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
autosomal recessive immunodeficiency 27A, mycobacteriosis
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
immunodeficiency 27B
A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
IMD27B
autosomal dominant IFNGR1 deficiency
autosomal dominant MSMD due to partial IFNgammaR1 deficiency
autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
autosomal dominant immunodeficiency 27B, mycobacteriosis
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
immunodeficiency 11A
A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
CARD11 deficiency
IMD11A
SCID due to CARD11 deficiency
severe combined immunodeficiency due to CARD11 deficiency
immunodeficiency 11B
A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
IMD11B
atopic dermatitis, elevated IgE, and eosinophilia
immunodeficiency 11B with atopic dermatitis
immunodeficiency 15B
A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21.
IMD15B
immunodeficiency 15A
A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.
IMD15A
immunodeficiency 26
A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
IMD26
SCID due to DNA-PKcs deficiency
immunodeficiency 26, with or without neurologic abnormalities
severe combined immunodeficiency due to DNA-PKcs deficiency
dendritic cell deficiency
A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.
B cell and dendritic cell deficiency
A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.
monocyte, dendritic cell, and NK cell deficiency
A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells.
immunodeficiency 54
A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.
IMD54
NKCD
familial isolated natural killer cell deficiency
primary immunodeficiency due to MCM4 deficiency
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
immunodeficiency 41
A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1.
CD25 deficiency
IL2RA deficiency
IMD41
immunodeficiency 41 with lymphoproliferation and autoimmunity
immunodeficiency due to CD25 deficiency
interleukin-2 receptor alpha chain deficiency
immunodeficiency 39
A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5.
IMD39
immunodeficiency 10
A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.
CID due to STIM1 deficiency
IMD10
STIM1 deficiency
combined immunodeficiency due to STIM1 deficiency
immune dysfunction with T-cell inactivation due to calcium entry defect 2
immunodeficiency 18
A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.
CD3-epsilon deficiency
IMD18
severe combined immunodeficiency 19
immunodeficiency 19
A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.
CD3-delta deficiency
IMD19
SCID T cell-negative, B cell-positive, NK cell-positive
severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
immunodeficiency 17
A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
CD3-gamma deficiency
IMD17
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
immunodeficiency 17, CD3 gamma deficient
immunodeficiency 59
A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3.
IMD59
granulocytopenia with immunoglobin abnormality
immunodeficiency 59 and hypoglycemia
immunodeficiency 44
A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3.
IMD44
immunodeficiency 9
A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.
CID due to ORAI1 deficiency
IMD9
combined immunodeficiency due to ORAI1 deficiency
immune dysfunction with T-cell inactivation due to calcium entry defect 1
immunodeficiency 7
A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2.
IMD7
TCR-alpha-beta-positive T-cell deficiency
immunodeficiency 7, TCR-alpha/beta deficient
immunodeficiency 65
A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12.
IMD65
immunodeficiency 65, susceptibility to viral infections
immunodeficiency 49
A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.
IMD49
SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
severe combined immunodeficiency 49
severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
immunodeficiency 64
A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14.
IMD64
immunodeficiency 43
A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.
B2M deficiency
IMD43
beta-2-microglobulin deficiency
hypercatabolic hypoproteinemia
immunodeficiency 56
A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1.
IL21R immunodeficiency
IMD56
combined immunodeficiency due to IL21R deficiency
immunodeficiency 52
A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
IMD52
severe combined immunodeficiency due to LAT deficiency
immunodeficiency 58
A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1.
IMD58
severe combined immunodeficiency due to CARMIL2 deficiency
immunodeficiency 32B
A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
IMD32B
autosomal recessive IRF8 deficiency
immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
immunodeficiency 32A
A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
IMD32A
MSMD due to partial IRF8 deficiency
MSMD due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
immunodeficiency 32A, mycobacteriosis, autosomal dominant
immunodeficiency 13
A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2.
ICL
IMD13
idiopathic CD4 lymphopenia
immunodeficiency 12
A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32.
IMD12
combined immunodeficiency due to MALT1 deficiency
immunodeficiency 35
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.
IMD35
TYK2 deficiency
autosomal recessiv HIES with atypical mycobacteriosis
autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis
susceptibility to infection due to TYK2 deficiency
tyrosine kinase 2 deficiency
immunodeficiency 30
A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.
IMD30
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
immunodeficiency 62
A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2.
IMD62
immunodeficiency 53
A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.
IMD53
immunodeficiency 55
A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
IMD55
combined immunodeficiency due to GINS1 deficiency
immunodeficiency 45
A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11.
IMD45
immunodeficiency 28
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11.
IFNGR2 deficiency
IMD28
MSMD due to complete IFNgammaR2 deficiency
MSMD due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
immunodeficiency 28, mycobacteriosis
immunodeficiency 51
A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
CANDF5
IMD51
familial candidiasis 5
immunodeficiency 63
A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.
IL2RB deficiency
IMD63
immunodeficiency 63 with lymphoproliferation and autoimmunity
immunodeficiency 66
A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2.
IMD66
immunodeficiency 61
A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.
IMD61
immunodeficiency 34
A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4.
AMCBX2
IMD34
X-linked MSMD due to CYBB deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
familial atypical mycobacteriosis X-linked 2
immunodeficiency 34, mycobacteriosis, X-linked
phagocyte bactericidal dysfunction
A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
phagocytic dysfunction
immunodeficiency 50
A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
CID due to Moesin deficiency
IMD50
MSN-related combined immunodeficiency
X-linked Moesin-associated immunodeficiency
combined immunodeficiency due to Moesin deficiency
immunodeficiency 50 X linked recessive
immunodeficiency 47
A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.
CDG IIs
CDG2S
CDGIIs
IMD47
congenital disorder of glycosylation type IIs
immunodeficiency and hepatopathy with or without neurologic features
immunodeficiency 33
A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28.
IMD33
X-linked MSMD due to IKBKG deficiency
X-linked MSMD due to NEMO deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
immunodeficiency 71
A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1.
IMD71
PLTEID
immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
immunodeficiency 70
A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3.
IMD70
immunodeficiency 69
A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15.
IMD69
growth hormone secreting pituitary adenoma 2
A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3.
GH-secreting pituitary adenoma 2
PITA2
X-linked acromegaly
acromegaly due to pituitary adenoma 2
growth hormone secreting pituitary adenoma
Growth Hormone Producing adenoma of the Pituitary
Somatotroph adenoma
growth hormone secreting adenoma of pituitary
pituitary adenoma 5
A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1.
PITA5
pituitary adenoma 5, multiple types
pituitary adenoma
A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
adenoma of the Pituitary gland
pituitary adenoma 1
A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2.
PITA1
pituitary adenoma 1, multiple types
pituitary adenoma 3
A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32.
PITA3
pituitary adenoma 3, multiple types
mutilating palmoplantar keratoderma with periorificial keratotic plaques
A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.
OLMS
Olmsted syndrome
mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
palmoplantar and periorificial keratoderma
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.
OLMSX
X-linked Olmsted syndrome
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
OLMS1
Olmsted syndrome 1
autosomal dominant Olmsted syndrome
congenital megabladder
A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12.
MGBL
immunodeficiency 72
A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.
immunodeficiency 72 with autoinflammation
non-syndromic X-linked intellectual disability 2
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.
MRX2
X-linked mental retardation 2
non-syndromic X-linked intellectual disability 73
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2.
MRX73
X-linked mental retardation 73
non-syndromic X-linked intellectual disability 104
A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.
MRX104
X-linked mental retardation 104
non-syndromic X-linked intellectual disability 19
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12.
MRX19
X-linked mental retardation 19
non-syndromic X-linked intellectual disability 103
A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11.
MRX103
X-linked mental retardation 103
non-syndromic X-linked intellectual disability ARX-related
A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.
ARX-related intellectual disability
MRXARX
X-linked mental retardation 29
X-linked mental retardation 29 and others
X-linked mental retardation 32
X-linked mental retardation 33
X-linked mental retardation 38
X-linked mental retardation 43
X-linked mental retardation 52
X-linked mental retardation 54
X-linked mental retardation 76
X-linked mental retardation 87
X-linked mental retardation with or without seizures ARX-related
non-syndromic X-linked intellectual disability 21
A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2.
MRX21
MRX34
X-linked mental retardation 21
X-linked mental retardation 21/34
X-linked mental retardation 34
non-syndromic X-linked intellectual disability 20
A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21.
MRX20
X-linked mental retardation 20
non-syndromic X-linked intellectual disability 58
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4.
MRX58
X-linked mental retardation 58
female-restricted syndromic X-linked intellectual disability 99
A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4.
MRXS99F
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
female-restricted syndromic X-linked mental retardation 99
non-syndromic X-linked intellectual disability 99
A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4.
MRX99
X-linked mental retardation 99
non-syndromic X-linked intellectual disability 14
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3.
MRX14
X-linked mental retardation 14
non-syndromic X-linked intellectual disability 45
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
MRX45
X-linked mental retardation 45
non-syndromic X-linked intellectual disability 50
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
MRX50
X-linked intellectual developmental disorder 50
X-linked mental retardation 50
XLID50
non-syndromic X-linked intellectual disability 84
A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3.
MRX84
X-linked mental retardation 84
non-syndromic X-linked intellectual disability 89
A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3.
MRX89
X-linked mental retardation 89
non-syndromic X-linked intellectual disability 92
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3.
MRX92
X-linked mental retardation 92
non-syndromic X-linked intellectual disability 81
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12.
MRX81
X-linked mental retardation 81
non-syndromic X-linked intellectual disability 9
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23.
MRX44
MRX9
X-linked mental retardation 44
X-linked mental retardation 9
non-syndromic X-linked intellectual disability 96
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23.
MRX96
X-linked mental retardation 96
non-syndromic X-linked intellectual disability 105
A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23.
MRX105
X-linked mental retardation 105
chromosome Xp11.22 duplication syndrome
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes.
MRX17
MRX31
X-linked mental retardation 17
X-linked mental retardation 31
Xp11.22 microduplication syndrome
non-syndromic X-linked intellectual disability 1
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.
MRX1
MRX18
MRX78
X-linked mental retardation 1
X-linked mental retardation 1/78
X-linked mental retardation 18
X-linked mental retardation 78
non-syndromic X-linked intellectual disability 77
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3.
MRX77
X-linked mental retardation 77
non-syndromic X-linked intellectual disability 100
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1.
MRX100
X-linked mental retardation 100
non-syndromic X-linked intellectual disability 90
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1.
MRX90
X-linked mental retardation 90
Tonne-Kalscheuer syndrome
A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.
MRX61
TOKAS
X-linked mental retardation 61
intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia
non-syndromic X-linked intellectual disability 91
A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3.
MRX91
X-linked mental retardation 91
non-syndromic X-linked intellectual disability 98
A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3.
MRX98
X-linked mental retardation 98
non-syndromic X-linked intellectual disability 93
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1.
MRX93
X-linked mental retardation 93
X-linked mental retardation with macrocephaly
non-syndromic X-linked intellectual disability 97
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1.
MRX65
MRX97
MRXZ
X-linked mental retardation 65
X-linked mental retardation 97
non-syndromic X-linked intellectual disability 53
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26.
MRX53
X-linked mental retardation 53
non-syndromic X-linked intellectual disability 101
A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3.
MRX101
X-linked mental retardation 101
non-syndromic X-linked intellectual disability 23
A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24.
MRX23
X-linked mental retardation 23
non-syndromic X-linked intellectual disability 63
A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23.
ACSL4-related intellectual disability
MRX63
MRX68
X-linked mental retardation 63
X-linked mental retardation 68
non-syndromic X-linked intellectual disability 30
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
MRX30
MRX47
X-linked mental retardation 30
X-linked mental retardation 30/47
X-linked mental retardation 47
non-syndromic X-linked intellectual disability 82
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25.
MRX82
X-linked mental retardation 82
non-syndromic X-linked intellectual disability 88
A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24.
MRX88
X-linked mental retardation 88
non-syndromic X-linked intellectual disability 107
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.
MRX107
X-linked mental retardation 107
non-syndromic X-linked intellectual disability 46
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26.
MRX46
X-linked mental retardation 46
X-linked intellectual disability-short stature-overweight syndrome
A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25.
Kumar type of X-linked syndromic intellectual developmental disorder
MRX12
MRX35
X-linked mental retardation 12
X-linked mental retardation 35
non-syndromic X-linked intellectual disability 42
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26.
MRX42
X-linked mental retardation 42
non-syndromic X-linked intellectual disability 41
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.
MRX41
MRX48
X-linked mental retardation 41
X-linked mental retardation 48
non-syndromic X-linked intellectual disability 72
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28.
MRX72
X-linked mental retardation 72
Raynaud-Claes syndrome
A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.
MRX15
MRX49
MRXSRC
X-linked mental retardation 15
X-linked mental retardation 49
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1.
IMD73B
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12.
IMD73C
X-Linked immunodeficiency 74
A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2.
IMD74
TLR7 deficiency
X-linked immunodeficiency 74,COVID-19-related
respiratory insufficiency due to SARS-CoV-2 viral infection
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1.
IMD73A
neutrophil immunodeficiency syndrome
nuclear type mitochondrial complex I deficiency
A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome.
MC1DN
nuclear type mitochondrial complex I deficiency 6
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23.
MC1DN6
nuclear type mitochondrial complex I deficiency 25
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.
MC1DN25
nuclear type mitochondrial complex I deficiency 5
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.
MC1DN5
nuclear type mitochondrial complex I deficiency 22
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3.
MC1DN22
nuclear type mitochondrial complex I deficiency 18
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31.
MC1DN18
nuclear type mitochondrial complex I deficiency 31
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33.
MC1DN31
nuclear type mitochondrial complex I deficiency 20
A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.
ACAD9 deficiency
Acyl-CoA dehydrogenase 9 deficiency
MC1DN20
mitochondrial complex 1 deficiency due to ACAD9 deficiency
nuclear type mitochondrial complex I deficiency 9
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33.
MC1DN9
nuclear type mitochondrial complex I deficiency 1
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.
MC1DN1
nuclear type mitochondrial complex I deficiency 10
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1.
MC1DN10
nuclear type mitochondrial complex I deficiency 13
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3.
MC1DN13
nuclear type mitochondrial complex I deficiency 15
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1.
MC1DN15
nuclear type mitochondrial complex I deficiency 17
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1.
MC1DN17
nuclear type mitochondrial complex I deficiency 24
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13.
MC1DN24
nuclear type mitochondrial complex I deficiency 32
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31.
MC1DN32
nuclear type mitochondrial complex I deficiency 8
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2.
MC1DN8
nuclear type mitochondrial complex I deficiency 4
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2.
MC1DN4
nuclear type mitochondrial complex I deficiency 2
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2.
MC1DN2
nuclear type mitochondrial complex I deficiency 29
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.
MC1DN29
nuclear type mitochondrial complex I deficiency 19
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2.
MC1DN19
nuclear type mitochondrial complex I deficiency 26
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32.
MC1DN26
nuclear type mitochondrial complex I deficiency 23
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22.
MC1DN23
nuclear type mitochondrial complex I deficiency 21
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12.
MC1DN21
nuclear type mitochondrial complex I deficiency 11
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1.
MC1DN11
nuclear type mitochondrial complex I deficiency 27
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31.
MC1DN27
nuclear type mitochondrial complex I deficiency 34
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3.
MC1DN34
nuclear type mitochondrial complex I deficiency 7
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22.
MC1DN7
nuclear type mitochondrial complex I deficiency 3
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3.
MC1DN3
nuclear type mitochondrial complex I deficiency 14
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3.
MC1DN14
nuclear type mitochondrial complex I deficiency 28
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11.
MC1DN28
nuclear type mitochondrial complex I deficiency 16
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1.
MC1DN16
nuclear type mitochondrial complex I deficiency 33
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2.
MC1DN33
nuclear type mitochondrial complex I deficiency 30
A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3.
MC1DN30
nuclear type mitochondrial complex I deficiency 12
A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24.
MC1DN12
mitochondrial type mitochondrial complex I deficiency
A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome.
MC1DM
mitochondrial type mitochondrial complex I deficiency 1
A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome.
MC1DM1
Sotos syndrome 2
A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13.
SOTOS2
Sotos syndrome
A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
cerebral gigantism
Sotos syndrome 1
A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene.
SOTOS1
Sotos syndrome 3
A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.
SOTOS3
X-linked parkinsonism-spasticity syndrome
A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4.
X-linked Parkinsonism with spasticity
XPDS
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23.
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
McLeod syndrome
A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.
MLS
McLeod neuroacanthocytosis syndrome
McLeod syndrome with or without chronic granulomatous disease
McLeod type neuroacanthocytosis
X-linked McLeod syndrome
myofibrillar myopathy 10
A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23.
MFM10
spermatogenic failure 44
A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1.
SPGF44
combined oxidative phosphorylation deficiency 49
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2.
COXPD49
combined oxidative phosphorylation deficiency 50
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1.
COXPD50
combined oxidative phosphorylation deficiency 48
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2.
COXPD48
combined oxidative phosphorylation deficiency 45
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.
COXPD45
combined oxidative phosphorylation deficiency 47
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13.
COXPD47
combined oxidative phosphorylation deficiency 46
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.
COXPD46
combined oxidative phosphorylation deficiency 43
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3.
COXPD43
combined oxidative phosphorylation deficiency 40
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21.
COXPD40
QRSL1-related COXPD
combined oxidative phosphorylation deficiency 42
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.
COXPD42
combined oxidative phosphorylation deficiency 41
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.
COXPD41
SHOX-related short stature
A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively.
idiopathic familial short stature
nephrogenic syndrome of inappropriate antidiuresis
A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28.
NSIAD
X-linked epilepsy with variable learning disabilities and behavior disorders
An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.
X-linked epilepsy-learning disabilities-behavior disorders syndrome
deafness, dystonia, and cerebral hypomyelination
A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28.
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.
primary ciliary dyskinesia-retinitis pigmentosa syndrome
alpha-thalassemia myelodysplasia syndrome
A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1.
ATMDS
acquired HbH disease
acquired hemoglobin H disease
alpha-thalassemia-myelodysplastic syndrome
Stocco Dos Santos type X-linked intellectual disability
A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22.
SDSX
Stocco dos Santos X-linked mental retardation syndrome
HRPT-related hyperuricemia
A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.
HPRT deficiency, grade I
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPRT1 partial deficiency
Kelley-Seegmiller syndrome
hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
hypoxanthine guanine phosphoribosyltransferase partial deficiency
hyperuricemia
An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
Blood urate raized
uricacidemia
X-linked severe congenital neutropenia
A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
SCNX
XLN
severe congenital neutropenia 7
A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3.
SCN7
autosomal recessive severe congenital neutropenia due to CSF3R deficiency
autosomal dominant severe congenital neutropenia
A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.
severe congenital neutropenia 2
An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1.
SCN2
severe congenital neutropenia 5
A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2.
SCN5
VPS45 deficiency
congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
congenital neutropenia-myelofibrosis-nephromegaly syndrome
severe congenital neutropenia 3
A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3.
Kostmann disease
Kostmann syndrome
SCN3
infantile agranulocytosis
severe congenital neutropenia 6
A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.
SCN6
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
severe congenital neutropenia 8
An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.
SCN8
SDSL
Shwachman-Diamond syndrome-like
autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
severe congenital neutropenia 4
A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.
Dursun syndrome
SCN4
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
combined oxidative phosphorylation deficiency 51
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2.
COXPD51
primary coenzyme Q10 deficiency 9
A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31.
COQ10D9
nuclear type mitochondrial complex I deficiency 35
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3.
MC1DN35
retinitis pigmentosa 83
A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32.
RP83
retinitis pigmentosa 84
A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2.
RP84
retinitis pigmentosa 85
A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1.
RP85
retinitis pigmentosa 86
A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34.
RP86
retinitis pigmentosa 87
A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3.
RP87
retinitis pigmentosa 87 with choroidal involvement
retinitis pigmentosa 88
A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1.
RP88
retinitis pigmentosa 89
A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21.
RP89
retinitis pigmentosa 90
A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1.
RP90
Uruguay faciocardiomusculoskeletal syndrome
A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.
FCMSU
terminal osseous dysplasia
A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.
ODPD
ODPF syndrome
TOD
TODPD
digital osseous dysplasia with facial pigmentary defects and multiple frenula
terminal osseous dysplasia-pigmentary defects syndrome
X-linked spondyloepimetaphyseal dysplasia
A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
SEMD X-linked
SEMDX
corpus callosum agenesis-abnormal genitalia syndrome
A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
ACC with abnormal genitalia
Proud syndrome
Proud-Levine-Carpenter syndrome
corpus callosum agenesis with abnormal genitalia
microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
CHIME syndrome
A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.
PIGL-CDG
Zunich neuroectodermal syndrome
Zunich-Kaye syndrome
coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
congenital disorder of glycosylation due to PIGL deficiency
neuroectodermal dysplasia, CHIME type
neuroectodermal syndrome, Zunich type
hypomyelinating leukodystrophy 20
A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.
HLD20
inflammatory bowel disease 30
An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.
IBD30
inflammatory bowel disease (Crohn disease) 30
inflammatory bowel disease 29
An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1.
IBD29
X-linked dyserythropoietic anemia
An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.
X-linked anemia with/without neutropenia and/or platelet abnormalities
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
anemia
A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
anaemia
X-linked atrophic macular degeneration
A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4.
De Sanctis-Cacchione syndrome
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
xeroderma pigmentosum with neurologic manifestation
autosomal dominant nonsyndromic deafness 78
An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.
DFNA78
autosomal dominant nonsyndromic deafness 79
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22.
DFNA79
Noonan syndrome 13
A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.
NS13
autosomal recessive nonsyndromic deafness 116
An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3.
DFNB116
spermatogenic failure 45
A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1.
SPGF45
spermatogenic failure 46
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2.
SPGF46
autosomal dominant nonsyndromic deafness 74
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3.
DFNA74
autosomal dominant nonsyndromic deafness 75
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1.
DFNA75
autosomal dominant nonsyndromic deafness 76
An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23.
DFNA76
autosomal dominant nonsyndromic deafness 77
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.
DFNA77
Noonan syndrome 11
A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3.
NS11
Noonan syndrome 12
A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2.
NS12
wrinkly skin syndrome
A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31.
WSS
hereditary combined deficiency of vitamin K-dependent clotting factors
A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation.
VKCFD
hereditary combined deficiency of factors II, VII, IX and X
combined deficiency of vitamin K-dependent clotting factors 1
A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2.
VKCFD1
combined deficiency of vitamin K-dependent clotting factors 2
A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2.
VKCFD2
spermatogenic failure 47
A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1.
SPGF47
spermatogenic failure 48
A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1.
SPGF48
Mayer-Rokitansky-Kuster-Hauser syndrome
A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype.
MRKH syndrome
Rokitansky syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome type 1
A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.
MRKH syndrome type 1
Rokitansky sequence
congenital absence of uterus and vagina
Mayer-Rokitansky-Kuster-Hauser syndrome type 2
A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
MRKH syndrome type 2
MURCS
MURCS association
atypical MRKH syndrome
mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia
mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
urocanase deficiency
A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3.
UROCD
encephalopathy due to urocanase deficiency
high urine urocanic acid levels
urocanate hydratase deficiency
urocanic aciduria
Schinzel type phocomelia
A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1.
AARRS
Al Awadi-Raas-Rothschild syndrome
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
LPHAS
Schinzel phocomelia syndrome
absence of ulna and fibula with severe limb deficiency
aplasia/hypoplasia of limbs and pelvis
congenital absence of ulna and fibula
limb/pelvis-hypoplasia/aplasia syndrome
severe limb deficit
mismatch repair cancer syndrome
A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.
BTP1 syndrome
BTPS1
CMMR-D syndrome
CMMRDS
MMR deficiency
Turcot syndrome
brain tumor-polyposis syndrome 1
childhood cancer syndrome
constitutional mismatch repair deficiency syndrome
familial thyroid dyshormonogenesis
A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis.
thyroid dyshormonogenesis 5
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.
TDH5
genetic defect in thyroid hormonogenesis 5
thyroid dyshormonogenesis 1
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
TDH1
genetic defect in thyroid hormonogenesis 1
iodide accumulation, transport, or trapping defect
thyroid dyshormonogenesis 2A
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3.
TDH2A
genetic defect in thyroid hormonogenesis 2A
iodide peroxidase deficiency
thyroid peroxidase deficiency
thyroid dyshormonogenesis 3
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.
TDH3
genetic defect in thyroid hormonogenesis 3
thyroid dyshormonogenesis 4
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1.
TDH4
deiodinase deficiency
genetic defect in thyroid hormonogenesis 4
iodotyrosine dehalogenase deficiency
thyroid dyshormonogenesis 6
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1.
TDH6
genetic defect in thyroid hormonogenesis 6
distal arthrogryposis type 1C
A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.
DA1C
tetraamelia syndrome
A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system.
TETAMS
tetra-amelia syndrome
tetraamelia-multiple malformations syndrome
tetraamelia syndrome 1
A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32.
TETAMS1
tetra-amelia syndrome 1
tetraamelia syndrome 2
A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1.
TETAMS2
tetra-amelia with pulmonary hypoplasia
tetraamelia with pulmonary hypoplasia
Filippi syndrome
A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1.
Scott craniodigital syndrome with mental retardation
type 1 syndactyly-microcephaly-intellectual disability syndrome
spondyloperipheral dysplasia
An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
spondyloperipheral dysplasia-short ulna syndrome
spondylometaepiphyseal dysplasia, short limb-hand type
A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3.
SMED short limb-abnormal calcification type
SMED short limb-hand type
SMED type 2
SMED, type II
SMED-SL
SMED-SL/AC
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
spondylometaepiphyseal dysplasia short limb-hand type
spondyloepimetaphyseal dysplasia with joint laxity
A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.
SEMDJL
spondyloepimetaphyseal dysplasia with joint laxity type 1
A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33.
SEMDJL1
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
spondyloepimetaphyseal dysplasia with joint laxity type 2
A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.
SEMD-MD
SEMDJL2
spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
spondyloepimetaphyseal dysplasia with joint laxity type 3
A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2.
SEMDJL3
osteogenesis imperfecta type 21
An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.
OI21
osteogenesis imperfecta type XXI
developmental and epileptic encephalopathy 67
A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12.
DEE67
early infantile epileptic encephalopathy 67
developmental and epileptic encephalopathy 68
A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1.
DEE68
early infantile epileptic encephalopathy 68
developmental and epileptic encephalopathy 69
A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3.
DEE69
early infantile epileptic encephalopathy 69
developmental and epileptic encephalopathy 70
A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1.
DEE70
early infantile epileptic encephalopathy 70
developmental and epileptic encephalopathy 71
A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.
DEE71
early infantile epileptic encephalopathy 71
glutaminase deficiency with neonatal epileptic encephalopathy
developmental and epileptic encephalopathy 72
A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12.
DEE72
early infantile epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1.
DEE73
early infantile epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.
DEE74
early infantile epileptic encephalopathy 74
developmental and epileptic encephalopathy 75
A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3.
DEE75
early infantile epileptic encephalopathy 75
developmental and epileptic encephalopathy 76
A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1.
DECAM
DEE76
developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination
early infantile epileptic encephalopathy 76
multiple congenital anomalies-hypotonia-seizures syndrome 4
A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3.
DEE77
GPIBD19
MCAHS4
developmental and epileptic encephalopathy 77
early infantile epileptic encephalopathy 77
glycosylphosphatidylinositol biosynthesis defect 19
developmental and epileptic encephalopathy 78
A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.
DEE78
early infantile epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.
DEE79
early infantile epileptic encephalopathy 79
developmental and epileptic encephalopathy 80
A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3.
DEE80
GPIBD20
early infantile epileptic encephalopathy 80
glycosylphosphatidylinositol biosynthesis defect 20
developmental and epileptic encephalopathy 81
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2.
DEE81
early infantile epileptic encephalopathy 81
developmental and epileptic encephalopathy 83
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15.
DEE83
early infantile epileptic encephalopathy 83
developmental and epileptic encephalopathy 84
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14.
DEE84
Jamuar syndrome
early infantile epileptic encephalopathy 84
developmental and epileptic encephalopathy 86
A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31.
DEE86
early infantile epileptic encephalopathy 86
developmental and epileptic encephalopathy 87
A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21.
DEE87
early infantile epileptic encephalopathy 87
developmental and epileptic encephalopathy 88
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.
DEE88
early infantile epileptic encephalopathy 88
developmental and epileptic encephalopathy 89
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1.
DEE89
early infantile epileptic encephalopathy 89
chondrodysplasia with joint dislocations gPAPP type
An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12.
gPAPP deficiency
BH4-deficient hyperphenylalaninemia B
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2.
GTP cyclohydrolase 1 deficiency
HPABH4B
tetrahydrobiopterin-deficient hyperphenylalaninemia B
Bosch-Boonstra-Schaaf optic atrophy syndrome
A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
BBSOAS
optic atrophy-intellectual disability syndrome
tubulinopathy
A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes.
lissencephaly 9 with complex brainstem malformation
A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3.
LIS9
posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
lissencephaly 10
A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31.
LIS10
leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus
A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1.
LIS5
lissencephaly 5
lissencephaly 7 with cerebellar hypoplasia
A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1.
LIS7
lissencephaly 3
A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
LIS3
lissencephaly 8
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
LIS8
microlissencephaly
A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.
lissencephaly 4
A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11.
LIS4
lissencephaly 4 with microcephaly
lissencephaly 6
A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21.
LIS6
lissencephaly 1
A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3.
LIS1
PAFAH1B1-related lissencephaly
X-linked lissencephaly 2
A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
XLAG
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
XLIS2
X-linked lissencephaly 1
A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23.
XLIS1
lissencephaly type 1 due to doublecortin gene mutation
Leber congenital amaurosis with early-onset deafness
A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.
LCAEOD
multiple benign circumferential skin creases on limbs
A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin.
CCSF
Kunze-Riehm syndrome
circumferential skin creases, Kunze type
congenital circumferential skin folds
congenital symmetric circumferential skin creases 1
A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33.
CSCSC1
congenital symmetric circumferential skin creases 2
A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2.
CSCSC2
alopecia, neurologic defects, and endocrinopathy syndrome
A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1.
ANE syndrome
ANES
alopecia-progressive neurological defect-endocrinopathy syndrome
focal segmental glomerulosclerosis 3
A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3.
FSGS3
glutaric acidemia type 3
A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1.
GA III
GA3
glutaric aciduria 3
glutaric aciduria III
glutaric aciduria type 3
glutaryl-CoA oxidase deficiency
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1.
CDK13-Related CHDFIDD
CDK13-Related Disorder
CHDFIDD
17-beta hydroxysteroid dehydrogenase 3 deficiency
A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22.
17-KSR deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
male pseudohermaphroditism with gynecomastia
neutral 17-beta-hydroxysteroid oxidoreductase deficiency
GAPO syndrome
A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3.
growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Gaucher's disease type IIIC
A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.
GD3C
Gaucher disease type 3C
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher-like disease
cardiovascular Gaucher disease
Ghosal hematodiaphyseal syndrome
A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.
Ghosal hematodiaphyseal dysplasia
Ghosal syndrome
diaphyseal dysplasia-anemia syndrome
congenital nonspherocytic hemolytic anemia 6
A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.
glutathione synthetase deficiency of erythrocytes
glutathione synthetase deficiency without 5-oxoprolinuria
combined cellular and humoral immune defects with granulomas
A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.
CCHIDG
CID due to RAG 1/2 deficiency
combined immunodeficiency due to RAG 1/2 deficiency
combined immunodeficiency with granulomatosis
combined immunodeficiency with skin granulomas
hepatic venoocclusive disease with immunodeficiency
A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1.
VODI
hepatic veno-occlusive disease-immunodeficiency syndrome
homocystinuria-megaloblastic anemia cblE type
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31.
HMAE
functional methionine synthase deficiency type cblE
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type
methylcobalamin deficiency, cblE type
vitamin B12-responsive homocystinuria, cblE type
homocystinuria-megaloblastic anemia cblG type
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
HMAG
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type
homocystinuria-megaloblastic anemia, cblG complementation type
methylcobalamin deficiency, cblG type
hydroxykynureninuria
An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2.
kynureninase deficiency
xanthurenic aciduria
N-acetylglutamate synthase deficiency
A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.
N-acetyl glutamate synthetase deficiency
N-acetylglutamate synthetase deficiency
NAG synthetase deficiency
NAGS deficiency
hyperammonemia due to N-acetylglutamate synthase deficiency
urea cycle disorder
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
disorder of urea cycle metabolism
urea cycle defect
Leydig cell hypoplasia
A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
46,XY DSD due to LH resistance or LHB deficiency
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY disorder of sex development due to LH resistance or LHB deficiency
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Leydig cell hypoplasia type I
A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.
46,XY DSD due to complete LH receptor inactivation
46,XY DSD due to complete LH resistance
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY disorder of sex development due to complete LH receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to complete LH receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone resistance
Leydig cell hypoplasia type II
A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.
46,XY DSD due to partial LH receptor inactivation
46,XY DSD due to partial LH resistance
46,XY DSD due to partial luteinizing hormone resistance
46,XY disorder of sex development due to partial LH receptor inactivation
46,XY disorder of sex development due to partial LH resistance
46,XY disorder of sex development due to partial luteinizing hormone resistance
Leydig cell hypoplasia due to partial LH receptor inactivation
Leydig cell hypoplasia due to partial LH resistance
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone resistance
leucine-sensitive hypoglycemia of infancy
An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1.
LIH
leucine-induced hypoglycemia
hypoinsulinemic hypoglycemia with hemihypertrophy
An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2.
HIHGHH
hypoinsulinemic hypoglycemia and body hemihypertrophy
Woodhouse-Sakati syndrome
A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1.
diabetes-hypogonadism-deafness-intellectual disability syndrome
diabetes-hypogonadism-hearing loss-intellectual disability syndrome
hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome
progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia
iminoglycinuria
A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.
nephrotic syndrome type 23
A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1.
NPHS23
nephrotic syndrome type 21
A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1.
NPHS21
nephrotic syndrome type 22
A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3.
NPHS22
primary ovarian insufficiency 18
A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.
POF18
premature ovarian failure 18
spermatogenic failure 52
A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.
SPGF52
spermatogenic failure 49
A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1.
SPGF49
spermatogenic failure 50
A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1.
SPGF50
spermatogenic failure 51
A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33.
SPGF51
X-linked spermatogenic failure 3
A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1.
SPGFX3
developmental and epileptic encephalopathy 93
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.
DEE93
IECEE3
infantile or early childhood epileptic encephalopathy 3
neurodevelopmental disorder with involuntary movements
A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13.
NEDIM
immunodeficiency 79
A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13.
IMD79
primary ovarian insufficiency 19
A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22.
POF19
POI19
premature ovarian failure 19
spermatogenic failure 53
A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2.
SPGF53
spondyloepiphyseal dysplasia Stanescu type
A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
SED Stanescu type
SEDSTN
spondyloepiphyseal dysplasia Kimberley type
A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
SEDK
spondyloepiphyseal dysplasia Kondo-Fu type
A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.
SED with elevated blood lysosomal enzymes
SEDKF
autosomal dominant spondyloepiphyseal dysplasia tarda
A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.
spondyloepiphyseal dysplasia with punctate corneal dystrophy
A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma.
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
Fantasy Island syndrome
SED-BDS
SED-brachydactyly and distinctive speech
Tattoo dysplasia
spondyloepiphyseal dysplasia, Cantu type
spondyloepiphyseal dysplasia Nishimura type
A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1.
SEDN
spondyloepiphyseal dysplasia tarda with characteristic facies
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22.
SHILCA syndrome
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities.
spondyloepiphyseal dysplasia tarda with impaired intellectual development
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability.
spondyloepiphyseal dysplasia tarda with intellectual disability
autosomal recessive spondyloepiphyseal dysplasia tarda
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease.
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development
A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability.
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondylometaphyseal dysplasia Algerian type
A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
spondylometaphyseal dysplasia with severe genu valgum
spondylometaphyseal dysplasia, Schmidt type
spondylometaphyseal dysplasia corner fracture type
A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35.
SMDCF
spondylometaphyseal dysplasia Sutcliffe type
spondylometaphyseal dysplasia Sedaghatian type
A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3.
SMDS
Sedaghatian chondrodysplasia
congenital lethal metaphyseal chondrodysplasia
axial spondylometaphyseal dysplasia
A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3.
SMD axial
SMDAX
spondylometaphyseal dysplasia with cone-rod dystrophy
A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29.
SMD-CRD
SMDCRD
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
spondylometaphyseal dysplasia type A4
A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.
spondylometaphyseal dysplasia East African type
A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies.
spondylometaphyseal dysplasia with corneal dystrophy
A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.
SMDCD
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.
Megarbane-Dagher-Melike type chondrodysplasia
SMDMDM
spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.
SMD with bowed forearms and facial dysmorphism
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Mahvash Disease
An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3.
GCGR-related hyperglucagonemia
nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
endocrine pancreas disease
A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream.
sarcosinemia
An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2.
SARCOS
SARD deficiency
SARDH deficiency
demethylation defect of N-methylglycine
sarcosine dehydrogenase complex deficiency
central precocious puberty
An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.
CPP
gonadotropin-dependant precocious puberty
central precocious puberty 2
A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2.
CPPB2
central precocious puberty 1
A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13.
CPPB1
autosomal dominant brain small vessel disease 2A
A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
BSVD2
porencephaly 2
brain small vessel disease 3
A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.
BSVD3
methemoglobinemia and ambiguous genitalia
A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3.
METAG
methemoglobinemia due to deficiency of cytochrome b5
methemoglobinemia type IV
pure isolated 17,20-lyase deficiency
Schindler disease
A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
NAGA deficiency
alpha-N-acetylgalactosaminidase deficiency
Schindler disease type 1
A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
NAGA deficiency type 1
alpha-N-acetylgalactosaminidase deficiency type 1
Kanzaki disease
A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.
NAGA deficiency type 2
adult-onset alpha-N-acetylgalactosaminidase deficiency
alpha-N-acetylgalactosaminidase deficiency type 2
Schindler disease type 3
A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
NAGA deficiency type 3
alpha-N-acetylgalactosaminidase deficiency type 3
alacrima, achalasia, and impaired intellectual development syndrome
A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.
AAMR
alacrima, achalasia, and mental retardation syndrome
pontocerebellar hypoplasia type 1D
A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27.
PCH1D
pontocerebellar hypoplasia type 11
A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2.
PCH11
pontocerebellar hypoplasia type 14
A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2.
PCH14
pontocerebellar hypoplasia type 15
A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21.
PCH15
pontocerebellar hypoplasia type 12
A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2.
COASY-related pontocerebellar hypoplasia
PCH12
pontocerebellar hypoplasia type 2F
A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.
PCH2F
pontocerebellar hypoplasia type 1E
A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.
PCH1E
pontocerebellar hypoplasia type 1F
A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1.
PCH1F
pontocerebellar hypoplasia type 13
A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1.
PCH13
pontocerebellar hypoplasia type 16
A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.
PCH16
pontocerebellar hypoplasia type 1C
A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3.
PCH1C
spermatogenic failure 54
A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35.
SPGF54
spermatogenic failure 56
A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31.
SPGF56
spermatogenic failure 55
A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12.
SPGF55
spermatogenic failure 57
A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3.
SPGF57
Tatton-Brown-Rahman syndrome
A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3.
DNMT3A overgrowth syndrome
DOS
TBRS
Tatton-Brown-Rahman overgrowth syndrome
craniotubular dysplasia Ikegawa type
A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1.
CTDI
hereditary spastic paraplegia 80
A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3.
SPG80
spastic paraplegia 80 autosomal dominant
hereditary spastic paraplegia 86
A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33.
SPG86
spastic paraplegia 86 autosomal recessive
hereditary spastic paraplegia 82
A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
SPG82
spastic paraplegia 82 autosomal recessive
hereditary spastic paraplegia 79B
A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.
SPG79B
autosomal recessive spastic paraplegia 79B
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
spastic paraplegia 79 autosomal recessive
hereditary spastic paraplegia 85
A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21.
SPG85
spastic paraplegia 85 autosomal recessive
hereditary spastic paraplegia 83
A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.
SPG83
spastic paraplegia 83 autosomal recessive
hereditary spastic paraplegia 84
A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
SPG84
spastic paraplegia 84 autosomal recessive
hereditary spastic paraplegia 78
A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.
SPG78
spastic paraplegia 78 autosomal recessive
hereditary spastic paraplegia 81
A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.
SPG81
autosomal recessive complex SPG due to Kennedy pathway dysfunction
autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
spastic paraplegia 81 autosomal recessive
spermatogenic failure 61
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1.
SPGF61
spermatogenic failure 62
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3.
SPGF62
spermatogenic failure 58
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2.
SPGF58
spermatogenic failure 64
A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2.
SPGF64
spermatogenic failure 65
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4.
SPGF65
spermatogenic failure 60
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1.
SPGF60
spermatogenic failure 63
A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2.
SPGF63
spermatogenic failure 59
A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1.
SPGF59
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31.
SSFSC2
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene.
CAKUTHED
spondylocostal dysostosis 6
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2.
SCDO6
autosomal recessive spondylocostal dysostosis 6
spondylocostal dysostosis 3
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3.
SCDO3
autosomal recessive spondylocostal dysostosis 3
spondylocostal dysostosis 2
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1.
SCDO2
autosomal recessive spondylocostal dysostosis 2
spondylocostal dysostosis 5
A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2.
SCDO5
spondylocostal dysostosis 4
A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.
SCDO4
autosomal recessive spondylocostal dysostosis 4
spondylocostal dysostosis 1
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2.
SCDO1
autosomal recessive spondylocostal dysostosis 1
Coffin-Siris syndrome 8
A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13.
CSS8
Coffin-Siris syndrome 5
A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2.
CSS5
Coffin-Siris syndrome 7
A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1.
CSS7
Coffin-Siris syndrome 12
A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.
CSS12
Coffin-Siris syndrome 10
A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3.
CSS10
Coffin-Siris syndrome 11
A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12.
CSS11
autosomal dominant auditory neuropathy 3
An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1.
AUNA3
muscular dystrophy-dystroglycanopathy type B15
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.
MDDGB15
congenital muscular dystrophy DPM3-related
muscular dystrophy-dystroglycanopathy type B14
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
MDDGB14
congenital muscular dystrophy GMPPB-related
muscular dystrophy-dystroglycanopathy type B3
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.
MDDGB3
congenital muscular dystrophy POMGNT1-related
muscular dystrophy-dystroglycanopathy type B4
A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
MDDGB4
congenital muscular dystrophy FKTN-related
muscular dystrophy-dystroglycanopathy type B2
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
MDDGB2
congenital muscular dystrophy POMT2-related
muscular dystrophy-dystroglycanopathy type C12
A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.
LGMD due to POMK deficiency
Limb-girdle muscular dystrophy due to POMK deficiency
MDDGC12
muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
muscular dystrophy-dystroglycanopathy type C8
A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.
LGMDR24
MDDGC2
autosomal recessive limb-girdle muscular dystrophy 24
muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
KINSSHIP syndrome
A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2.
AFF3-related mesomelic dysplasia
KINS
Steichen-Gersdorf type mesomelic dysplasia
multisystem proteinopathy
A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system.
Updating outdated UMLS CUI.
intestinal infectious disease
An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
bacterial enteritis
obsolete visual cortex disorder due to neoplasm
obsolete respiratory syncytial virus bronchiolitis
A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production.
acute bronchiolitis due to RSV
capillary pneumonia
viral bronchiolitis
obsolete labor complications
Labour complications
thyroid lymphoma
A thyroid gland cancer that has_material_basis_in lymphocytes.
thyroid cancer
An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage.
Thyroid gland neoplasm
malignant neoplasm of thyroid gland
malignant tumour of thyroid gland
neoplasm of thyroid gland
thyroid gland cancer
thyroid neoplasm
obsolete metastatic malignant neoplasm to the thyroid
metastatic tumor to the Thyroid
secondary malignant neoplasm of thyroid gland
obsolete polyglandular activity in multiple endocrine adenomatosis
obsolete polyglandular dysfunction
multiple endocrine neoplasia type 2B
A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
MEN type IIB
MEN2B
Multiple endocrine neoplasia, type 3
Wagenmann-Froboese syndrome
mucosal neuroma syndrome
multiple endocrine neoplasia type 1
A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
MEN type I
Wermer syndrome
Wermer's syndrome
obsolete papilledema associated with increased intracranial pressure
endometritis
An endometrial disease that is characterized by inflammation of the endometrium.
endometrial disease
A uterine disease that is located_in the endometrium.
ampulla of Vater cancer
A duodenum cancer that is located_in the ampulla of Vater.
malignant tumour of ampulla of vater
duodenum cancer
A small intestine cancer that is located_in the beginning section of the small intestine.
Duodenal cancer
cancer of duodenum
duodenal neoplasm
bile duct cancer
A biliary tract cancer that is located_in the bile duct.
Ca extrahepatic bile ducts
bile duct tumor
malignant neoplasm of the extrahepatic bile duct
duodenum disease
An intestinal disease that is located_in the duodenum.
duodenal disease
duodenum disorder
migraine
A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
migraine disorder
migraine variant
migraine with or without aura
tabes dorsalis
A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction.
Posterior spinal sclerosis
Tabes dorsalis - neurosyphilis
pelvic inflammatory disease
A female reproductive system disease that is characterized by an infection of the female reproductive organs.
PID
pulmonary interstitial emphysema
A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation.
pulmonary emphysema
A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.
compensatory emphysema
A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung.
hyperlucent lung
A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT.
cycloplegia
An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.
Ciliary muscle paresis
Cycloplegic paralysis of accommodation
Paresis of accommodation
eye accommodation disease
An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image.
asymptomatic neurosyphilis
A tertiary neurosyphilis that results_in mild meningitis.
obsolete old burn scar-related melanoma of skin
late congenital syphilis
A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
juvenile neurosyphilis
interstitial keratitis
A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation.
malignant eyelid melanoma
A skin melanoma that arises from the upper or lower eyelid.
dysplastic nevus syndrome
A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.
FAMM syndrome
familial atypical multiple mole-melanoma
obsolete regressing skin melanoma
regressing malignant melanoma of the skin
balloon cell malignant melanoma
A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm.
obsolete malignant giant pigmented nevus melanoma
malignant melanoma in congenital melanocytic naevus
skin melanoma in Giant Pigmented nevus
nodular malignant melanoma
A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
nodular melanoma
obsolete malignant junctional nevus melanoma
malignant melanoma in junctional nevus (morphologic abnormality)
melanoma in Junctional nevus
obsolete desmoplastic melanoma
A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck.
obsolete malignant skin blue nevus
Blue nevus-Like melanoma
skin amelanotic melanoma
A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells.
skin amelanotic malignant melanoma
obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium
obsolete syphilitic acoustic neuritis
A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved.
subglottis benign neoplasm
A laryngeal benign neoplasm that is located_in the subglottic area of the larynx.
Subglottic tumor
laryngeal benign neoplasm
laryngeal tumor
larynx neoplasm
neoplasm of larynx
larynx leiomyoma
A laryngeal benign neoplasm that derives_from smooth muscle cells.
leiomyoma
A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyomatous neoplasm
leiomyomatous tumor
larynx squamous papilloma
A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness.
Laryngeal Squamous Cell Papilloma
syphilitic meningitis
A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord.
hymenolepiasis
A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
Hymenolepis infectious disease
dwarf tapeworm infection
diphyllobothriasis
A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
Diphyllobothrium infection
fish tapeworm
pernicious anemia
A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
ANEMIA PERNICIOUS
Addison's anaemia
Biermer's anaemia
Biermer's anemia
pernicious anaemia
cysticercosis
A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
Pork tapeworm infection
Tapeworm infection intestinal taenia solum
Tapeworm infection pork
intestinal taenia solium infection
neurocysticercosis
tenia solium infectious disease
sparganosis
A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
Infection by Sparganum
syphilitic encephalitis
An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum.
gastric leiomyoma
A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
leiomyoma of the stomach
intracranial abscess
A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
obsolete Congenital or acquired abnormality of vagina, with delivery
sleeping sickness
A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
African sleeping sickness
African trypanosomiasis
trypanosomiasis
A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
obsolete Trypanosoma brucei rhodesiense infectious disease
A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems.
East African trypanosomiasis
Rhodesian sleeping sickness
Rhodesian trypanosomiasis
trypanosoma rhodesiense infectious disease
obsolete Trypanosoma brucei gambiense infectious disease
A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems.
Gambian Trypanosomiasis
Gambian sleeping sickness
West African trypanosomiasis
category only, removed[LS]
obsolete eyelid degenerative disease
obsolete degenerative disorder of eyelid and periocular area
hyperpigmentation of eyelid
An eyelid disease that is characterized by dark eyelids.
dark eyelids
dyspigmentation of eyelid
acute hydrops keratoconus
A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane.
Keratoconus, acute hydrops
keratoconus
A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
conical cornea
cerebral artery occlusion
A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries.
psychologic vaginismus
A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
Functional vaginismus
Non-organic vaginismus
Psychogenic Vaginismus
psychosexual disorder
A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin.
xerophthalmia
A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.
Conjunctival xerosis
dry eye syndrome
A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
Tear film insufficiency
dry eye disease
conjunctival degeneration
lacrimal apparatus disease
An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
doid/symp duplicate - moved to Symptom Ontology
obsolete asthenopia
obsolete Chlamydia trachomatis peritonitis
venereal disease of peritoneum due to Chlamydia trachomatis
obsolete secondary malignant neoplasm to the thymus
metastatic tumor to the Thymus
obsolete metastases to mediastinum
metastatic tumor to the mediastinum
secondary malignant neoplasm of mediastinum
thymus lymphoma
A thymus cancer that arises from the thymus.
thymus cancer
An immune system cancer located_in the thymus.
Thymic tumor
neoplasm of thymus
thymic neoplasm
long bones of lower limb cancer
A bone cancer that is manifested in the long bones of the lower limb.
malignant neoplasm of long bones of leg
obsolete lower limb cancer
A malignant neoplasm that is manifested in the lower limb.
malignant neoplasm of lower limb
cancer of lower limb
malignant neoplasm of short bones of lower limb
A bone cancer that is located in the short bones of lower limbs.
malignant neoplasm of short bone of lower limb
malignant neoplasm of short bones of leg
Meckel's diverticulum cancer
An ileum cancer originating from Meckel's diverticulum.
Meckel diverticulum cancer
malignant neoplasm of Meckel's diverticulum
ileum cancer
A small intestine cancer that is located_in the ileum.
ileal neoplasm
malignant neoplasm of ileum
intestinal cancer
A gastrointestinal system cancer that is located_in the intestine.
malignant intestinal tumors
malignant neoplasm of intestine
NCI and MESH IDs are for both malignant and benign forms, removed from this record.[LS]
benign ileal neoplasm
A small intestine benign neoplasm that affects the wall of the ileum.
Ileal tumor
small intestine benign neoplasm
neoplasm of small intestine
small intestinal neoplasm
osteonecrosis
An ischemic bone disease that results_in necrosis located_in bone.
Avascular necrosis of bone
aseptic necrosis
bone necrosis
obsolete primary tuberculosis
obsolete tuberculous myelitis
Tuberculous abscess of spinal cord
tuberculoma of spinal cord
lacrimal passage granuloma
Granuloma of lacrimal passages
optic papillitis
An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.
papillitis
optic neuritis
An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
neuroretinitis
An eye disease that is characterized by inflammation of the retina.
Focal retinitis and retinochoroiditis, juxtapapillary
Juxtapapillary focal retinitis AND retinochoroiditis
Papilloretinitis
malignant hypertensive renal disease
renal hypertension
obsolete diabetic peripheral angiopathy
endobronchial lipoma
A lipoma that is located within the lumen of a bronchus.
lipoma
A cell type benign neoplasm that is composed of lipocytes.
Lipomatous neoplasm
Lipomatous tumor
benign lipomatous tumor
benign tumor of Adipose tissue
tumor of adipose tissue
bronchial benign neoplasm
bronchus neoplasm
neoplasm of bronchus
spindle cell lipoma
A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men.
esophageal lipoma
A lipoma located in the esophagus.
Lipoma of esophagus
esophageal disease
A gastrointestinal system disease that is located_in the esophagus.
esophageal Ulcer
skin lipoma
A skin benign neoplasm that derives_from fat cells.
Cutaneous Lipoma
Lipoma of skin
cutaneous lipomatous tumor
lipoma of face
skin benign neoplasm
neoplasm of skin
neoplasm of skin by site
skin neoplasm
tumor of the skin
liver lipoma
A lipoma located in the liver.
Lipoma of the Liver
hepatic lipoma
obsolete autosomal deletion syndrome
pleomorphic lipoma
A lipoma that is characterized by floret giant cells with overlapping nuclei.
conventional lipoma
A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.
classic type lipoma
kidney lipoma
A lipoma that is located in the kidney.
Lipoma of kidney
pleural lipoma
A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura.
Lipoma of Pleura
breast lipoma
A breast benign neoplasm that is composed of lipocytes.
Lipoma of breast
chest wall lipoma
A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall.
Lipoma of the Chest Wall
gallbladder lipoma
A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells.
Lipoma of the gallbladder
obsolete lipoma of intrathoracic organ
Lipoma of intrathoracic organs (disorder)
external ear lipoma
An auditory system benign neoplasm that is located in the external ear.
Lipoma of external auditory meatus
Lipoma of the External ear
external auditory meatus lipoma
obsolete lipoma of intra-abdominal organ
Lipoma of intra-abdominal organs (disorder)
axillary lipoma
An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
Lipoma of axilla
lipoma of spermatic cord
A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells.
Spermatic Cord Lipoma
paratesticular lipoma
A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region.
chondroid lipoma
A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.
extrahepatic bile duct lipoma
A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells.
Lipoma of the extrahepatic bile duct
obsolete calculus of gallbladder and bile duct without cholecystitis
calculus of gallbladder and bile duct without cholecystitis, with obstruction
cholelithiasis
pinta disease
A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic.
obsolete failed induction
Failed mechanical induction of labor, antepartum
obsolete polymyositis
MESH:C538250 added from NeuroDevNet [WAK].
dermatomyositis
A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
Polymyositis with skin involvement
dermatopolymyositis
Amyopathic dermatomyositis
obsolete single episode manic disorder
obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy
borderline leprosy
A leprosy that results in small numerous red irregularly shaped plaques.
Borderline or dimorphous leprosy
Midborderline leprosy
leprosy
A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
aortic atherosclerosis
An atherosclerosis of the aorta.
Atherosclerosis of aorta
obsolete Histoplasma capsulatum pericarditis
An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
Histoplasma capsulatum with pericarditis (disorder)
histoplasmosis pericarditis
Histoplasmosis with pericarditis
pericarditis
A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
Brown's tendon sheath syndrome
A mechanical strabismus that is characterized by impairment of eye movements.
mechanical strabismus
exhibitionism
A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.
obsolete pelvic cancer
A malignant neoplasm that is manifested in the pelvic region.
neoplasm of pelvis (disorder)
pelvis neoplasm
obsolete malignant neoplasm of rectum, rectosigmoid junction and anus
malignant neoplasm of rectum, rectosigmoid junction and anus (disorder)
malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder)
malignant neoplasm of rectum, rectosigmoid junction, and anus
obsolete malignant neoplasm of pelvic bones, sacrum and coccyx
Ca pelvic bones/sacrum/coccyx
Ca pelvic bones/sacrum/coccyx (disorder)
malignant neoplasm of pelvic bones, sacrum and coccyx (disorder)
malignant neoplasm of pelvic bones, sacrum, and coccyx
malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder)
obsolete malignant neoplasm of pelvis
malignant neoplasm of pelvis NOS (disorder)
malignant neoplasm of pelvis, NOS
malignant tumor of pelvis (disorder)
thalassemia
A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
Sickle-cell thalassemia with crisis
Sickle-cell thalassemia without crisis
thalassemia Hb-S disease with crisis
thalassemia Hb-S disease without crisis
obsolete delayed separation of umbilical cord
pleurisy
A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
tuberculoid leprosy
A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center.
Smooth leprosy
type T leprosy
louping ill
A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus (Orthoflavivirus loupingi), which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs.
strawberry gallbladder
Cholesterolosis of gallbladder
obsolete conjunctival degenerations and deposits
Conjunctival degenerations and deposits (disorder)
obsolete vitamin A deficiency with conjunctival xerosis
vitamin A deficiency with conjunctival xerosis (disorder)
obsolete vitamin A deficiency
otorrhea
An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.
discharging ear
obsolete Mumps virus hepatitis
A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.
Mumps hepatitis (disorder)
mumps
A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
salivary gland disease
A mouth disease located_in the salivary gland.
Non-neoplastic Salivary gland disease
obsolete hairy cell leukemia of spleen
subendocardial infarction acute myocardial infarction
acute myocardial infarction
left bundle branch hemiblock
Left bundle branch block
obsolete schizo-affective type schizophrenia in remission
obsolete Pseudomonas intestinal infectious disease
A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.
intestinal infection due to Pseudomonas (disorder)
intestinal infectious disease due to pseudomonas
obsolete Vasa previa complicating labor and delivery
Vasa previa complicating labor and delivery, unspecified as to episode of care
obsolete Vasa previa
Vasa praevia
Vasa previa (disorder)
Vasa previa NOS (disorder)
Vasa previa complicating labor and delivery, antepartum
Vasa previa unspecified (disorder)
obsolete Vasa previa complicating labor and delivery, delivered
prostate cancer
A male reproductive organ cancer that is located_in the prostate.
NGP - new growth of prostate
hereditary prostate cancer
malignant tumor of the prostate
prostate cancer, familial
prostate neoplasm
prostatic cancer
prostatic neoplasm
tumor of the prostate
male reproductive organ cancer
A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
male genital cancer
male reproductive system neoplasm
malignant neoplasm of male genital organ
malignant neoplasm of male genital organ or tract
malignant neoplasm of male genital organs
malignant tumor of male Reproductive system
malignant tumor of male genital organ
neoplasm of male genital organ
tumor of male Reproductive system
male genital neoplasm
prostate disease
prostate squamous cell carcinoma
A squamous cell carcinoma that is located_in the prostate.
obsolete metastasis to prostate
metastatic neoplasm to the prostate
secondary malignant neoplasm of prostate (disorder)
prostate malignant phyllodes tumor
A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.
malignant Phyllodes neoplasm of the prostate
familial periodic paralysis
A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
prostate lymphoma
A prostate cancer that affects lymphocytes and arises from the prostate gland.
lymphoma of prostate
monocular esotropia
An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance.
esotropia
A strabismus that is characterized the eye which turns inward toward the nose.
Convergence in manifest squint
Internal Strabismus
crossed eyes
obsolete intermittent monocular esotropia
Intermittent esotropia, monocular
Intermittent monocular esotropia (disorder)
Monocular intermittent esotropia (disorder)
obsolete monocular esotropia with A pattern
Monocular esotropia with A pattern (disorder)
obsolete monocular esotropia with V pattern
Monocular esotropia with V pattern (disorder)
Raynaud disease
A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.
Raynaud's disease
Raynaud's syndrome
peripheral vascular disease
A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.
arterial occlusive disease
parotitis
A parotid disease characterized by the inflammation of one or both parotid glands.
parotid disease
A salivary gland disease that is located in the parotid gland.
sialadenitis
A salivary gland disease that is characterized as an infection of the salivary glands.
Sialoadenitis
obsolete Mumps virus infectious disease
A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person.
Rubulavirus infectious disease
obsolete Mumps virus orchitis
A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen.
Mumps orchitis (disorder)
obsolete Mumps virus polyneuritis
A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness.
Mumps polyneuropathy (disorder)
Polyneuropathy in mumps (disorder)
obsolete Mumps virus meningitis
A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness.
Mumps meningitis (disorder)
viral meningitis
A meningitis that has_material_basis_in a viral infection.
meningitis
A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.
obsolete Mumps virus encephalitis
A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech.
Mumps encephalitis (disorder)
obsolete Mumps virus pancreatitis
A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting.
Mumps pancreatitis (disorder)
pneumoconiosis
An interstitial lung disease that is caused by the inhalation of dust.
mixed mineral dust pneumoconiosis
A pneumoconiosis caused by the inhalation of mixed mineral dust particles.
asbestosis
A pneumoconiosis caused by inhalation and retention of asbestos fibers.
baritosis
A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
berylliosis
A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds.
beryllium poisoning
byssinosis
A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.
Flax-dressers' disease
Stripper's asthma
cotton mill fever
anthracosilicosis
A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung.
silicosis
A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
Pneumoconiosis due to silicates
Silica pneumoconiosis
Silicotic fibrosis of lung
silicotuberculosis
Caplan's syndrome
A pneumoconiosis that results_in humans that also have rheumatoid arthritis.
Caplan syndrome
Caplan's disease
Caplans syndrome
Rheumatoid pneumoconiosis
anthracosis
A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.
Coal Miner's Pneumoconiosis
Coal workers' lung
Coal workers' pneumoconiosis
Melanoedema
black lung
siderosis
A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes.
pulmonary siderosis
pulmonary talcosis
A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.
pneumoconiosis due to talc
talc pneumoconiosis
talcosis
slate pneumoconiosis
A pneumoconiosis that is caused by exposure to slate dust.
Schistosis
kaolin pneumoconiosis
A pneumoconiosis that is caused by inhalation of kaolin dust.
Kaolinosis
obsolete disorder of optic chiasm due to vascular disorder
disorder of optic chiasm associated with vascular disorder
obsolete craniofacial abnormality
Congenital abnormality of skull and face bones (disorder)
Congenital anomalies of skull and face bones
Skull and face &/or face bone anomalies
Skull or face bone anomaly NOS
Skull or face bone anomaly NOS (disorder)
glaucomatous atrophy of optic disc
An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma.
Glaucomatous atrophy [cupping] of optic disc
obsolete subchronic schizophrenia
Unspecified schizophrenia, subchronic state
subchronic Schizophrenia
subchronic schizophrenia (disorder)
obsolete schizophrenia simplex
simple schizophrenia
simple schizophrenia (disorder)
simple schizophrenia NOS (disorder)
simple type Schizophrenia
simple type schizophrenia
simple type schizophrenia, unspecified state
obsolete residual subchronic schizophrenia
Residual schizophrenia, subchronic state
subchronic residual schizophrenia (disorder)
chronic meningitis
obsolete subchronic latent schizophrenia
Latent schizophrenia, subchronic state
Latent subchronic Schizophrenia
subchronic latent schizophrenia (disorder)
obsolete latent schizophrenia
Latent Schizophrenia
Latent schizophrenia
Latent schizophrenia (disorder)
Latent schizophrenia NOS (disorder)
Latent schizophrenia, unspecified state
Latent schizophrenic reaction
Unspecified latent schizophrenia (disorder)
blepharophimosis
An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids.
solitary cyst of breast
A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma.
Solitary Cyst of the breast
breast cyst
A breast benign neoplasm that is characterized by a fluid-filled sac.
Cyst of the breast
aggressive NK-cell leukemia
A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
aggressive NK-cell leukaemia
large granular Lymphocyte Leukemia, NK-cell type
natural killer cell leukaemia
natural killer cell leukemia
leukemia
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
obsolete mammary duct ectasia
Comedomastitis
Mammary duct ectasia (disorder)
Mammary duct ectasia [Ambiguous]
breast fibroadenosis
A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures.
Fibroadenosis - breast
Fibroadenosis of breast
fibrosclerosis of breast
A non-proliferative fibrocystic change of the breast that contains scar tissue.
Fibrosis of the breast
non-proliferative fibrocystic change of the breast
A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia.
Non-Proliferative Fibrocystic Change
breast fibrocystic disease
A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
Diffuse cystic mastopathy
Fibrocystic disease of breast
breast Fibrocystic Change
eosinophilic meningitis
A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch.
epididymis cancer
A male reproductive organ cancer that is located in the epididymis.
malignant Epididymal tumor
malignant neoplasm of epididymis
malignant tumor of epididymis
obsolete metastatic tumor to the epididymis
metastatic neoplasm to the Epididymis
secondary malignant neoplasm of epididymis (disorder)
epididymis adenocarcinoma
An epididymis cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the epididymis
lymphoid leukemia
A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
lymphoblastic leukaemia
lymphoblastic leukemia
lymphocytic leukaemia
yaws
A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
Bouba
frambesia
frambesia tropica
frambosie
polypapilloma tropicum
thymosis
strabismic amblyopia
An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye.
suppression amblyopia
amblyopia
An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.
lazy eye
refractive amblyopia
An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s).
ametropic amblyopia
deprivation amblyopia
An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar.
disuse amblyopia
obsolete mature T-cell neoplasm
obsolete precipitate labor
Precipitate labor, antepartum
Precipitate labor, with delivery
obsolete staphylococcal meningitis
Staphylococcal meningitis (disorder)
amyotrophic neuralgia
A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25.
neuralgic amyotrophy
brachial plexus neuropathy
A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves.
Brachial plexus disorder
brachial plexopathy
obsolete papilledema associated with decreased ocular pressure
Papilledema associated with decreased ocular pressure (disorder)
chronic lymphocytic leukemia
A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
B-cell chronic lymphocytic leukaemia
B-cell chronic lymphocytic leukemia
chronic lymphatic leukaemia
chronic lymphatic leukemia
chronic lymphocytic leukaemia
lymphoplasmacytic leukaemia
lymphoplasmacytic leukemia
B-cell chronic lymphoid leukemia
secondary hypertrophic osteoarthropathy
Bamberger-Marie disease
HPOA - hypertrophic pulmonary osteoarthropathy
Marie Bamberger disease
hypertrophic pulmonary osteoarthropathy
pneumonic plague
A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing.
primary pneumonic plague
secondary pneumonic plague
plague
A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
seminal vesicle chronic gonorrhea
Gonococcal seminal vesiculitis, chronic
gonorrhea
A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.
chronic gonococcal infectious disease of lower genitourinary tract
chronic gonococcal infectious disease of upper genitourinary tract
vesiculitis
Seminal vesiculitis
obsolete Generalized infection during labor
Generalized infection during labor, delivered
antepartum generalized infection during labor
acute pericementitis
acute periodontitis
periodontitis
chronic pericementitis
stable condition keratoconus
Keratoconus, stable condition
purulent acute otitis media
A suppurative otitis media with sudden onset and a short course.
suppurative otitis media
A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
Otitis media with effusion - purulent
Purulent otitis media
obsolete metastasis to lymph node
Mooren's ulcer
A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema.
Mooren ulcer
corneal ulcer
obsolete nontraumatic rupture of muscle
Non-traumatic muscle tear
Nontraumatic rupture of muscle (disorder)
Rupture of muscle, nontraumatic
mycotic corneal ulcer
A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus.
marginal corneal ulcer
A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus.
hypopyon ulcer
hypopyon
iridocyclitis
primary iridocyclitis
ring corneal ulcer
A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea.
perforated corneal ulcer
A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment.
obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium
Thyroid dysfunction of mother, with delivery
antepartum thyroid dysfunction
postpartum thyroid dysfunction
obsolete fascia disease
tonsillitis
An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills.
Throat infection - tonsillitis
chronic tonsillitis
Legionnaires' disease
A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
Infection by Legionella pneumophilia
Legionella
Legionella pneumonia
Legionnaire's disease
common cold
An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
Acute viral rhinopharyngitis
Nasopharyngitis - acute
Nasopharyngitis, acute
acute coryza
acute nasopharyngitis
acute rhinitis
rhino-sinusitis
nasopharyngitis
A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
chronic nasopharyngitis
nasopharyngeal disease
dentin caries
Compound dental caries
Dental caries extending into dentine
dental caries
A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.
Dental caries extending into pulp
Dental caries of smooth surface
Dental caries pit and fissure
obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations
Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations
obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium
Mental disorder of mother, antepartum
Mental disorder of mother, with delivery
peripheral neuritis antepartum
peripheral neuritis in pregnancy, with delivery
peripheral neuritis postpartum
postpartum edema or excessive weight gain
postpartum mental disorder of mother
patellar tendinitis
Patellar tendonitis
tendinitis
obsolete candidal pneumonia
A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain.
Candidiasis of lung
obsolete wrist or carpus enthesopathy
Enthesopathy of the wrist and carpus (disorder)
Enthesopathy of wrist and carpus
Enthesopathy of wrist and/or carpus (disorder)
Wrist or carpus enthesopathy NOS (disorder)
diaphragmatic eventration
diaphragm disease
A muscular disease that is located_in the diaphragm.
obsolete hypertonic, incoordinate, or prolonged uterine contractions
esophageal atresia
Congenital atresia of esophagus
Congenital imperforate esophagus
Imperforate esophagus
Oesophageal atresia
Hirschsprung's disease
A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Hirschsprung disease
aganglionic megacolon
congenital megacolon
macrocolon
pelvirectal achalasia
total intestinal aganglionosis
megacolon
A colonic disease that is characterized by an abnormal dilation of the colon.
Dilatation of colon
imperforate anus
Congenital atresia of anus
Congenital or infantile occlusion of anus
anal atresia
anus disease
A rectal disease located_in the anus.
Nontraumatic tear of anus
Solitary anal ulcer
Ulcer of anus
anal disease
anal fissure
anal fissure and fistula
anal ulcer
fissure in ano
obsolete transient disorder of initiating or maintaining wakefulness
obsolete pulmonary valve syphilitic endocarditis
Syphilitic endocarditis of pulmonary valve (disorder)
orbital granuloma
chronic orbital inflammation
chronic inflammation of orbit
obsolete menopausal and postmenopausal disorder
obsolete generalized nonconvulsive epilepsy disease
generalized nonconvulsive epilepsy with intractable epilepsy
Dressler's syndrome
A pericarditis characterized by inflammation, occurring after injury, located_in pericardium.
Dressler syndrome
Postmyocardial infarction syndrome
obsolete Bacillus anthracis pneumonia
A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis.
Anthrax pneumonia (disorder)
Pneumonia in anthrax
Woolsorters' pneumonia
obsolete influenza virus pneumonia
A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills.
influenza pneumonia
influenzal pneumonia
malignant otitis externa
An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.
beach ear
An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds.
Tank ear
acute bacterial inflammation of external ear
acute otitis externa, diffuse
acute swimmer's ear
acute swimmers' ear
chronic fungal otitis externa
A otomycosis which is persistent and long-lasting or recurrent.
chronic mycotic otitis externa
acute infection of pinna
An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.
obsolete pinna disease
Unspecified disorder of pinna (disorder)
disorder of pinna (disorder)
disorder of pinna, unspecified
double pterygium
A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula.
astigmatism
A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
conjunctival pterygium
A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula.
Web eye
obsolete Haemophilus influenzae pneumonia
A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless.
Haemophilus influenzae pneumonia (disorder)
Pneumonia due to H. influenzae
Pneumonia due to Hemophilus influenzae [H. influenzae]
pneumonia due to hemophilus influenzae
obsolete Haemophilus influenzae infectious disease
HEMOPHILUS INFLUENZA INFECTION
Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters
Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder)
Haemophilus influenzae infection (disorder)
Haemophilus influenzae infection, unspecified (disorder)
Hemophilus Influenza Infection
obsolete primary Haemophilus infectious disease
Haemophilus infection (disorder)
Hemophilus Infection
obsolete developmental dislocation of joint
Developmental dislocation of ankle and foot joint
Developmental dislocation of forearm joint
Developmental dislocation of hand joint
Developmental dislocation of joint of multiple sites
Developmental dislocation of joint of pelvic region and thigh
Developmental dislocation of joint of shoulder region
Developmental dislocation of lower leg joint
Developmental dislocation of upper arm joint
obsolete pneumococcal pneumonia
A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting.
Chest infection - pneumococcal pneumonia
Lobar -pneumococcal -pneumonia
Lobar pneumonia (disorder)
Pneumococcal lobar pneumonia (disorder)
Pneumococcal pneumonia (disorder)
Pneumococcal pneumonia (disorder) [Ambiguous]
Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia]
Streptococcus pneumoniae pneumonia
obsolete streptococcal pneumonia
A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias.
viral pneumonia
A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
obsolete coxsackie myocarditis
A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart.
malignant gastric granular cell tumor
malignant gastric granular cell tumour
malignant granular cell tumor of stomach
malignant granular cell tumour of stomach
obsolete recurrent malignant gastric neoplasm
gastric fundus cancer
A stomach cancer that is located_in the gastric fundus.
Ca fundus - stomach
malignant neoplasm of fundus of stomach
malignant tumor of fundus of stomach
obsolete glaucoma associated with chamber angle anomalies
Glaucoma associated with chamber angle anomalies (disorder)
gastric lymphoma
Lymphoma of the stomach
microinvasive gastric cancer
Surface gastric cancer
early gastric cancer
gastric adenocarcinoma
A stomach carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of stomach
stomach adenocarcinoma
pylorus cancer
Ca pylorus - stomach
malignant neoplasm of Prepylorus
malignant neoplasm of pylorus of stomach
malignant tumor of pylorus
obsolete coxsackievirus infectious disease
An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue.
pyloric antrum cancer
malignant neoplasm of antrum of stomach
malignant tumor of pyloric antrum
cardia cancer
A cancer located_in the gastric cardia.
Ca cardia - stomach
malignant neoplasm of cardia of stomach
obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations
Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations
obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes
Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes
acute eustachian salpingitis
A otosalpingitis with a sudden onset and a short course.
acute eustachian tube salpingitis
otosalpingitis
A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube.
Eustachian salpingitis
Eustachian tube salpingitis
obsolete cerebral toxoplasmosis
A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures.
Encephalitis due to acquired toxoplasmosis
Meningoencephalitis due to acquired toxoplasmosis (disorder)
Meningoencephalitis due to toxoplasmosis
Toxoplasma encephalitis
Toxoplasma encephalitis (disorder)
meningoencephalitis
A central nervous system disease that involves encephalitis which occurs along with meningitis.
supine hypotensive syndrome
A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
antepartum maternal hypotension syndrome
postpartum maternal hypotension syndrome
obsolete maternal distress
oculocerebrorenal syndrome
A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
Lowe syndrome
lowe oculocerebrorenal syndrome
oculocerebrorenal syndrome of Lowe
obsolete yaws hyperkeratosis
hyperkeratosis due to yaws
hyperkeratosis of yaws (disorder)
obsolete gangosa of yaws
A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue.
Gangosa
Gangosa of yaws (disorder)
Rhinopharyngitis mutilans
late yaws
A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
Gummata and ulcers due to yaws
Gummata of yaws
Ulcers of yaws
Yaws gummata and ulcers
gummatous frambeside
multiple papillomata due to yaws and wet crab yaws
nodular late yaws
early yaws
A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
Frambesia, initial or primary
Initial frambesial ulcer
Initial lesions of yaws
bone and joint lesions due to yaws
bone and joint yaws lesion
chancre of yaws
primary frambesia
obsolete myopathy of critical illness
Critical illness myopathy
obsolete inborn amino acid transport disorder
osteomalacia
A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
obsolete vitamin D deficiency
Avitaminosis D
Avitaminosis D NOS (disorder)
Unspecified vitamin D deficiency
deficiency of vitamin D (disorder)
vitamin D deficiency
vitamin D deficiency (disorder)
calcium metabolism disease
cerebral degeneration
A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
Brain degeneration
obsolete amino acid transport disease
Disturbances of amino-acid transport
metachromatic leukodystrophy
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
MLD
Scholz cerebral sclerosis
arylsulfatase A deficiency
deficiency of cerebroside-sulfatase
sulfatide lipoidosis
Refsum disease
A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
HMSN type IV
HSMN IV
Heredopathia atactica polyneuritiformis
Refsum's disease
adult Refsum disease
classic Refsum disease
phytanic acid oxidase deficiency
obsolete hereditary and idiopathic peripheral neuropathy
Krabbe disease
Diffuse globoid body sclerosis
GLOBOID CELL LEUKOENCEPHALOPATHY
Galactosylceramide beta-galactosidase deficiency
Krabbe's disease
Krabbe's leukodystrophy
beta galactocerebrosidase deficiency
globoid cell leukodystrophy
MESH:D000326w added from NeuroDevNet [WAK].
adrenoleukodystrophy
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Bronze Schilder disease
Encephalitis periaxialis concentrica
Encephalitis periaxialis, Schilder's
Siemerling-Creutzfeldt Disease
X-linked adrenoleukodystrophy
diffuse sclerosis
sudanophilic cerebral sclerosis
mild pre-eclampsia
A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.
pre-eclampsia
A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
gestational hypertension
hypertension induced by pregnancy
pre-eclamptic toxaemia
preeclampsia
preeclampsia/eclampsia
pregnancy associated hypertension
pregnancy toxemia
proteinuric hypertension of pregnancy
toxaemia of pregnancy
hypertension
An artery disease characterized by chronic elevated blood pressure in the arteries.
HTN
hyperpiesia
vascular hypertensive disorder
hypertensive disease
idiopathic progressive polyneuropathy
polyneuropathy
A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
obsolete idiopathic neuropathy
Unspecified idiopathic peripheral neuropathy
obsolete gonococcal meningitis
Gonococcal meningitis (disorder)
pleural tuberculosis
An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.
Pearly disease
Tuberculosis of pleura
Tuberculous pleurisy
Tuberculous pleuritis
tuberculous pleurisy in primary progressive tuberculosis
Hartnup disease
An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
Neutral 1 amino acid transport defect
deficiency of tryptophan oxygenase
neutral amino acid transport defect
chronic tic disorder
A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
chronic motor or vocal tic disorder
tic disorder
A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity.
obsolete steatorrhea
glucose intolerance
Glucose malabsorption
Malabsorption of glucose
hyperglycemia
lactose intolerance
A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose.
LM - Lactose malabsorption
short bowel syndrome
An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
acquired short bowel syndrome
short gut syndrome
blind loop syndrome
An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
Bacterial overgrowth syndrome
tropical sprue
Sprue - tropical
Tropical steatorrhea
celiac disease
An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
celiac sprue
coeliac disease
idiopathic steatorrhea
obsolete renal aminoaciduria
inborn renal aminoaciduria
pancreatic steatorrhea
pancreatic steatorrhoea
protein-losing enteropathy
Enteropathy, exudative
Exudative enteropathy
allergic urticaria
An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction.
acute gonococcal cervicitis
An acute cervicitis that is caused by gonorrhea.
Gonococcal cervicitis
acute gonorrhea of cervix
acute cervicitis
A cervicitis that is characterized by onset within the past 1 - 3 days.
cervicitis
A cervix disease that is characterized by inflammation of the cervix.
obsolete Fissure of nipple associated with childbirth
obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis
Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis
type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis
primary optic atrophy
nephritis
A kidney disease that is characterized by an inflammation of the kidneys.
obsolete optic atrophy associated with retinal dystrophy
optic atrophy associated with retinal dystrophies
optic atrophy associated with retinal dystrophy (disorder)
partial optic atrophy
cystinosis
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
cystine storage disease
obsolete chronic state latent schizophrenia with acute exacerbation
schizotypal personality disorder
A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
acute inferoposterior infarction
acute inferolateral myocardial infarction
acute anterolateral myocardial infarction
lipoma of colon
Colonic Lipoma
large intestine lipoma
An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine.
Lipoma of large Intestine
colon leiomyoma
Colonic leiomyoma
colonic lymphangioma
Lymphangioma of colon
obsolete colonic ganglioneuroma
residual stage of open angle glaucoma
Open-angle glaucoma residual stage
open-angle glaucoma
A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
Wide-angle glaucoma
glaucoma simplex
open angle glaucoma
pigmentary glaucoma
mediastinum neuroblastoma
A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells.
neuroblastoma of mediastinum
malignant mediastinal neurogenic neoplasm
A mediastinal cancer that has_material_basis_in neural cells.
neurogenic tumor of mediastinum
mediastinum ganglioneuroblastoma
Ganglioneuroblastoma of mediastinum
juvenile glaucoma
A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.
Glaucoma of childhood
primary open angle glaucoma
An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
chronic simple glaucoma
separation anxiety disorder
An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place.
anxiety disorder
A cognitive disorder that involves an excessive, irrational dread of everyday situations.
anxiety
anxiety state
lactocele
A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands.
Galactocele
hypertrophy of breast
A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.
breasts enlarged
large breast
obsolete galactorrhea not associated with childbirth
GALACTORRHEA
Galactorrhea due to non-obstetric cause (disorder)
Galactorrhea not associated with childbirth (disorder)
Galactorrhoea
mastitis
A breast disease characterized by painful infection of the breast tissue.
Inflammatory breast disease
Inflammatory disease of breast
breast inflammation
fat necrosis of breast
A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.
breast Fat necrosis
chronic endophthalmitis
purulent endophthalmitis
paragonimiasis
A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
Infection by Paragonimus
lung fluke disease
lung fluke infection
pulmonary paragonimiasis
obsolete passive-aggressive personality disorder
Passive-aggressive personality
passive-aggressive personality disorder
obsolete meningococcal septicemia
Meningococcal septicaemia
Meningococcemia
Meningococcemia (disorder)
Meningococcemia, unspecified (disorder)
giardiasis
A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia duodenalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
Infection by Giardia lamblia
beaver feaver
toxic diffuse goiter
secondary hypertension
obsolete nodular lung tuberculosis
A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs.
kidney failure
A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
Renal Insufficiency
renal failure
cerebral lipidosis
broad ligament malignant neoplasm
A uterine adnexa cancer that is located_in the broad ligament.
malignant neoplasm of broad ligament of uterus
uterine adnexa cancer
A uterine cancer that is located_in the adnexa.
obsolete lymphoid leukemia
obsolete chronic pyelonephritis with lesion of renal medullary necrosis
otitis media
A otitis which involves inflammation of the middle ear.
petrositis
An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone.
acute petrositis
chronic petrositis
inflammation of petrous bone
chronic pyelonephritis
pyelonephritis
obsolete choroidal rupture
Choroidal rupture (disorder)
portal hypertension
obsolete liver abscess and sequelae of chronic liver disease
obsolete Spirurida infectious disease
A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida.
filarial infectious disease and dracontiasis
thrombotic thrombocytopenic purpura
Moschcowitz's syndrome
bubonic plague
A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration.
black death
obsolete cutaneous plague
cellulocutaneous plague
cellulocutaneous plague (disorder)
fiedler's myocarditis
Idiopathic myocarditis
Isolated (Fiedler's) myocarditis
fiedler myocarditis
acute myocarditis
septic myocarditis
An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation.
obsolete Chromadorea infectious disease
A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands.
secernentea infectious disease
polycythemia
A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.
Erythrocythemia
mesenteric lymphadenitis
Mesenteric adenitis
This doid includes the acute and chronic forms.[LS]
lymphadenitis
A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
Adenitis
Inflammation of lymph node
acute adenitis
acute lymphadenitis
chronic Lymphadenitis
chronic adenitis
methemoglobinemia
hemoglobinopathy
hemoglobinopathies
Queensland tick typhus
A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
Australian tick typhus
Rickettsia australis spotted fever
North Queensland tick typhus
premature menopause
An ovarian dysfunction that is the loss of normal ovarian function before age 40.
Menopause - premature
Menopause praecox
ovarian dysfunction
An ovarian disease that is characterized by irregular or absent ovulation.
obsolete osteitis condensans
Focal sclerosing osteomyelitis
Sclerosing osteitis
setariasis
A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.
Infectious Disease by Setaria
filariasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
disease due to superfamily Filarioidea
chronic frontal sinusitis
A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
frontal sinusitis
A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
chronic maxillary sinusitis
A maxillary sinusitis which lasts for 12 weeks or more.
chronic antritis
maxillary sinusitis
A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
chronic sphenoidal sinusitis
A sphenoid sinusitis which lasts for 12 weeks or more.
Sphenoidal sinus-chr.
sphenoid sinusitis
A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
Sphenoidal sinusitis
obsolete congenital syphilitic encephalitis
Congenital syphilitic encephalitis (disorder)
Encephalitis due to congenital syphilis
acute gonococcal epididymo-orchitis
Gonococcal epididymo-orchitis
epididymo-orchitis
obsolete Haemophilus influenzae meningitis
Haemophilus meningitis (disorder)
Hemophilus meningitis
gastric ulcer
acute gastric ulcer with haemorrhage and perforation
acute gastric ulcer with hemorrhage AND with perforation but without obstruction
acute gastric ulcer with hemorrhage and obstruction
acute gastric ulcer with hemorrhage and perforation
acute gastric ulcer with hemorrhage and perforation, with obstruction
acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
acute gastric ulcer with hemorrhage, with obstruction
acute gastric ulcer with hemorrhage, with perforation AND with obstruction
acute gastric ulcer with perforation
acute gastric ulcer with perforation AND obstruction
acute gastric ulcer with perforation, with obstruction
acute gastric ulcer without hemorrhage and without perforation
acute gastric ulcer without hemorrhage, without perforation AND without obstruction
acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
bleeding acute gastric ulcer
chronic gastric ulcer without hemorrhage AND without perforation
chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
peptic ulcer disease
acute peptic ulcer with hemorrhage
acute peptic ulcer with hemorrhage and perforation
acute peptic ulcer without hemorrhage and without perforation
mansonelliasis
A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.
tibialis tendinitis
nasal cavity disease
nasal cavity olfactory neuroblastoma
Olfactory neuroblastoma of the nasal cavity
olfactory neuroblastoma
Asthesioneuroblastoma
Esthesioneuroblastoma
Esthesioneuroepithelioma
Olfactory Esthesioneuroblastoma
paranasal sinus Olfactory neuroblastoma
nasal cavity lymphoma
Lymphoma of the nasal cavity
lymphoma of nasal cavity
obsolete recurrent duodenal cancer
recurrent malignant Duodenal neoplasm
duodenum adenocarcinoma
A duodenum cancer that derives_from epithelial cells of glandular origin.
Duodenal adenocarcinoma
sexual sadism
obsolete leptospiral meningitis
Aseptic leptospiral meningitis
Aseptic leptospiral meningitis (disorder)
Leptospiral meningitis (aseptic)
Leptospiral meningitis (disorder)
dirofilariasis
A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
Dirofilaria infectious disease
Infection by Dirofilaria
malignant essential hypertension
Accelerated essential hypertension
essential hypertension
A hypertension with no known cause. It is the most common type of hypertension.
idiopathic hypertension
primary hypertension
malignant hypertension
A hypertension that is characterized by rapid onset of extremely high blood pressure.
obsolete gender identity disorder in adolescent or adult
voyeurism
chylocele of tunica vaginalis
obsolete diabetes mellitus with hyperosmolarity
obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled
Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled
Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled
obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled
Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled
Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled
Eastern equine encephalitis
A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus (Alphavirus eastern), which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma.
Neuroinvasive Eastern equine encephalitis virus infection
EEE
Murray Valley encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness.
Australian X disease
Australian encephalitis
Western equine encephalitis
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
WEE
Japanese encephalitis
A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
Japanese B encephalitis
St. Louis encephalitis
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis.
Neuroinvasive St. Louis encephalitis virus infection
angiodysplasia of intestine
angiodysplasia
A vascular disease that is characterized as a small vascular malformation of the gut.
angiodysplasia of stomach and duodenum with hemorrhage
obsolete intrauterine hypoxia and birth asphyxia
sexual masochism
Edwards syndrome
A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
Complete trisomy 18 syndrome
E3 Trisomy
trisomy 18
middle ear cholesterol granuloma
A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum.
Cholesterin granuloma
Cholesterin granuloma of middle ear
obsolete congenital chromosomal disease
paralytic squint
Incomitant dissociation
Paralytic strabismus
strabismus
A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.
partial third-nerve palsy
Partial third nerve palsy
Third nerve palsy with pupil sparing
Third or oculomotor nerve palsy, partial
abducens nerve palsy
A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.
Abducens nerve weakness
Lateral rectus muscle denervation paresis
Lateral rectus muscle innervation disorder
Sixth cranial nerve disorder
Sixth nerve palsy
VIth nerve Paralysis
VIth nerve disorder
abducens nerve disease
abducens palsy
cranial nerve palsy
A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.
Cranial nerve Paralysis
total third-nerve palsy
Third nerve palsy with pupil involved
Third or oculomotor nerve palsy, total
Total third nerve palsy
fourth cranial nerve palsy
Fourth nerve palsy
Fourth or trochlear nerve palsy
degeneration of macula and posterior pole
degeneration of macula and posterior pole of retina
degeneration of macula or posterior pole
Kuhnt-Junius degeneration
Exudative senile macular degeneration of retina
Neovascular age-related macular degeneration
Senile macular degeneration, wet
Wet senile macular retinal degeneration
obsolete premature labor
LABOR PREMATURE
Labour - premature
Premature labor (finding)
Premature labour
premature labor
obsolete disorganized type schizophrenia chronic state with acute exacerbation
meningocele
A spina bifida that is characterized by herniation of the meninges between the vertebrae.
iliac vein thrombophlebitis
Phlebitis and thrombophlebitis of the iliac vein
thrombophlebitis
A phlebitis that results from a blood clot in the vessel.
Phlebitis and thrombophlebitis of superficial vessels of lower extremities
Superficial thrombophlebitis of leg
Thrombophlebitis of a superficial leg vein
Thrombophlebitis of superficial veins of lower extremity
hand, foot and mouth disease
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
HFMD
Vesicular stomatitis and exanthem
epidemic pleurodynia
A viral infectious disease that results in necrosis located in intercostal muscle and has_material_basis_in Human enterovirus B (Enterovirus betacoxsackie). The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache.
Bamble disease
Bornholm disease
Epidemic pleurisy
Epidemic, myositis
devil's grip
epidemic myalgia
herpangina
A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
Vesicular pharyngitis
lepromatous leprosy
A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.
type L leprosy
tethered spinal cord syndrome
spinal dysraphism
hypospadias
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
familial hypospadias
obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb
Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb
Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder)
Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder)
obsolete pulmonary actinomycosis
An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses.
pulmonary actinomycotic infection
thoracic actinomycosis
obsolete echovirus meningitis
A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness.
obsolete echovirus infectious disease
An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites.
Enteric cytopathic human orphan virus infection
benign essential hypertension
amnestic disorder
A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
Amnestic syndrome
Korsakoff's psychosis or syndrome
amnesia
Wernicke-Korsakoff syndrome
A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.
Korsakoff Syndrome
Korsakoff's psychosis
Korsakoff's syndrome
Korsakov psychosis
Korsakov's psychosis
obsolete transsexuality with asexual history
Trans-sexualism with asexual history
Transsexuality with asexual history (disorder)
obsolete transsexualism
A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex.
Siberian tick typhus
A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
North Asian tick fever
North Asian tick typhus
Rickettsia sibirica spotted fever
manchurian typhus
obsolete sickle-cell crisis
Hb-S disease with mention of crisis
Hemoglobin S disease with crisis (disorder)
Hemoglobin SS disease with crisis (disorder)
Sickle cell anemia with crisis (disorder)
sickle cell crisis
sickle cell anemia
A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
Hb SC disease
Hb-S/Hb-C disease
Hb-SS disease without crisis
HbSS disease
Hemoglobin S disease without crisis
Sickle-cell/Hb-C disease without crisis
drepanocytosis
haemoglobin SC disease
hemoglobin SC disease
homozygous sickle cell disease
sickle cell anaemia
obsolete catatonic type schizophrenia chronic state
obsolete catatonic schizophrenia
gastrojejunal ulcer
acute gastrojejunal ulcer with hemorrhage
acute gastrojejunal ulcer with hemorrhage AND obstruction
acute gastrojejunal ulcer with hemorrhage AND perforation
acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction
acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction
acute gastrojejunal ulcer with perforation
acute gastrojejunal ulcer with perforation AND obstruction
acute gastrojejunal ulcer with perforation, with obstruction
acute gastrojejunal ulcer without hemorrhage AND without perforation
acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
acute gastrojejunal ulcer, with hemorrhage, with obstruction
chronic gastrojejunal ulcer without hemorrhage AND without perforation
chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction
chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction
borderline personality disorder
A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
dependent personality disorder
A personality disorder that is characterized by a pervasive psychological dependence on other people.
obsessive-compulsive personality disorder
A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
OCPD
Anankastic personality disorder
obsessive-compulsive disorder
An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
Anancastic neurosis
obsessive compulsive disorder
multiple personality disorder
A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
Dissociative identity disorder
dissociative disorder
A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
dissociative disease
dissociative reaction
schizoid personality disorder
A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
paranoid personality disorder
A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
antisocial personality disorder
A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
Asocial personality
Dissocial personality disorder
Psychopath.personality
Psychopathic personality
Psychopathic personality disorder
sociopathic personality
attention deficit hyperactivity disorder
A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
ADHD
attention deficit disorder
hyperkinetic disorder
cerebral arterial disease
strongyloidiasis
A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
Infection by Strongyloides
disseminated strongyloidiasis
obsolete Enterobacter aerogenes intestinal infectious disease
An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.
intestinal infection due to aerobacter aerogenes
obsolete Salmonella arizonae intestinal infectious disease
A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea.
intestinal infectious disease due to arizona group of paracolon bacilli
obsolete Escherichia coli intestinal infectious disease
A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting.
intestinal infectious disease due to Escherichia coli
cholesteatoma of attic
cholesteatoma of middle ear
Cholesteatoma of middle ear and mastoid
Cholesteatoma of middle ear and/or mastoid
Cholesteatoma of the middle ear
Epidermosis of ear
Epidermosis of middle ear
middle ear cholesteatoma
spastic diplegia
A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
Diplegic infantile cerebral palsy
Infantile spastic cerebral palsy
Little's disease
Littles disease
cerebral spastic infantile paralysis
infantile diplegic cerebral palsy
lipoid nephrosis
Minimal Change Glomerulonephritis
Minimal change disease
Nephrotic syndrome with lesion of minimal change glomerulonephritis
Nephrotic syndrome with lesion of minimal change nephrotic syndrome
nephrotic syndrome
A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
spastic hemiplegia
A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
Congenital hemiplegia
Hemiplegic infantile cerebral palsy
hemiplegic cerebral palsy
spastic hemiplegic cerebral palsy
spastic monoplegia
A spastic cerebral palsy that affects only one limb.
Monoplegic infantile cerebral palsy
infantile monoplegic cerebral palsy
spastic monoplegic cerebral palsy
Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis.
obsolete hydrops fetalis
acute salpingo-oophoritis
acute salpingitis and oophoritis
salpingo-oophoritis
Salpingitis/oophoritis
Tubo-ovarian inflammatory disease
oophoritis
An ovarian disease that is characterized by inflammation of the ovary.
acute salpingitis
salpingitis
A fallopian tube disease that is characterized by inflammation of the fallopian tube.
membranous glomerulonephritis
membranous nephropathy
obsolete poliovirus type III nonparalytic poliomyelitis
A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
acute nonparalytic poliomyelitis poliovirus type III
obsolete poliovirus type I nonparalytic poliomyelitis
A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
acute nonparalytic poliomyelitis poliovirus type I
hemolytic disease of the fetus
A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
EF - Erythroblastosis foetalis
Haemolytic disease due to rhesus isoimmunisation
Hemolytic disease of the fetus and newborn
alloimmune HDFN
erythroblastosis fetalis
fetal erythroblastosis
rhesus isoimmunisation of the newborn
obsolete poliovirus type II nonparalytic poliomyelitis
A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms.
acute nonparalytic poliomyelitis poliovirus type II
discitis
A cartilage disease that is characterized by an infection of the intervertebral disc space.
diskitis
conjunctival vascular disease
Conjunctival vascular abnormality
vascular abnormalities of conjunctiva
basal ganglia cerebrovascular disease
acute hemorrhagic leukoencephalitis
A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
AHL
Weston-Hurst syndrome
acute haemorrhagic leucoencephalitis of Weston Hurst
acute hemorrhagic encephalomyelitis
acute necrotizing hemorrhagic leukoencephalitis
acute disseminated encephalomyelitis
An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.
ADEM
acute disseminated encephalitis
postinfectious encephalitis
An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection.
Postinfective encephalitis
secondary encephalitis
immature cataract
A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining.
Incipient cataract
Incipient senile cataract
Water clefts
senile cataract
A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.
obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis
gonadal disease
An endocrine system disease that is located_in the gonads.
obsolete progressive iris atrophy
Essential iris atrophy (disorder)
Essential or progressive iris atrophy
obsolete Iris and ciliary body degeneration
obsolete Iridoschisis
Iridoschisis (disorder)
obsolete pupillary margin miotic cyst
Miotic cyst of pupillary margin (disorder)
Miotic cysts of pupillary margin
obsolete Atrophy of sphincter of iris
degeneration of pupillary margin
degeneration of pupillary margin (disorder)
anorectal stricture
Stenosis of rectum and anus
obsolete postsurgical testicular hypofunction
Post-surgical testicular hypofunction (disorder)
Postablative testicular hypofunction
Postablative testicular hypofunction (disorder)
Postablative testicular hypofunction NOS (disorder)
Postsurgical testicular hypofunction (disorder) [Ambiguous]
obsolete testicular dysfunction
obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis
chronic glomerulonephritis with lesion of proliferative glomerulonephritis
obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis
chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis
pseudopterygium
pinguecula
obsolete malignant esophageal neoplasm by topographic region
corneal edema
Corneal oedema
bullous keratopathy
secondary corneal edema
idiopathic corneal edema
contact lens corneal edema
chronic rapidly progressive glomerulonephritis
chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis
dissociative amnesia
A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
psychogenic amnesia
depersonalization disorder
A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
Neurotic derealization
Felty's syndrome
An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia.
Felty syndrome
Rheumatoid arthritis with splenoadenomegaly and leukopenia
gastroschisis
meconium aspiration syndrome
A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
Neonatal aspiration of meconium
meconium aspiration
obsolete esophageal metastasis
metastatic tumor to the esophagus
urinary system cancer
An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
pasteurellosis
A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia.
Pasteurella infection
Pasteurella infectious disease
obsolete Pasteurella hemorrhagic septicemia
hemorrhagic septicemia
esophagus lymphoma
Lymphoma of esophagus
Lymphoma of oesophagus
oesophagus lymphoma
esophageal cancer
A gastrointestinal system cancer that is located_in the esophagus.
Ca lower third oesophagus
Ca middle third oesophagus
esophagus cancer
malignant neoplasm of distal third of esophagus
malignant neoplasm of lower third of oesophagus
malignant neoplasm of middle third of oesophagus
malignant neoplasm of proximal third of esophagus
malignant neoplasm of upper third esophagus
malignant tumor of Distal Third of esophagus
malignant tumor of Proximal Third of esophagus
malignant tumor of abdominal esophagus
malignant tumor of the middle Third of the esophagus
placenta praevia
A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
esophageal carcinoma
A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of esophagus
cancer of oesophagus
carcinoma of esophagus
carcinoma of oesophagus
obsolete cyst of thyroid
Cyst of the Thyroid gland
Cyst of thyroid
Cyst of thyroid (disorder)
Thyroid cyst
Brucella suis brucellosis
A brucellosis that involves an infection caused by Brucella suis in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue.
brucellosis
A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
Maltese fever
undulant fever
Bang's disease
Gibraltar fever
Malta fever
Mediterranean fever
leech infestation
A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream.
Hirudiniasis
Leeches
esophagus melanoma
melanoma of esophagus
melanoma of oesophagus
oesophagus melanoma
chorioretinal scar
asphyxia neonatorum
A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.
Asphyxia - birth
Asphyxia, in liveborn infant
Birth asphyxia
postnatal asphyxia
obsolete extracutaneous melanoma
obsolete perinatal respiratory disorder
Perinatal respiratory problems NOS
Perinatal respiratory problems NOS (disorder)
Unspecified respiratory condition of fetus and newborn
respiratory condition of fetus OR newborn (disorder)
obsolete Salmonella gastroenteritis
A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness.
Enteric paratyphosis
Salmonella food poisoning
Salmonella food poisoning (disorder)
Salmonella gastroenteritis
Salmonella gastroenteritis (disorder)
Salmonella gastroenteritis [Ambiguous]
Salmonellosis
Salmonellosis (& [gastroenteritis] or [food poisoning])
obsolete bacterial gastroenteritis
A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting.
Bacterial gastroenteritis (disorder)
Gastroenteritis - bact.
bacterial diarrhea
obsolete renal syphilis
Syphilis of kidney
Syphilis of kidney (disorder)
obsolete pulmonary syphilis
A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever.
Syphilis of lung (disorder)
obsolete primary Rickettsiaceae infectious disease
obsolete gastrointestinal melanoma
Q fever
A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
Infection due to Coxiella burnetii
trench fever
A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
His-Werner disease
Quintan fever
Wolhynian fever
shin bone fever
tibialgic fever
rickettsialpox
A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash.
Rickettsia akari spotted fever
Vesicular rickettsiosis
fundus albipunctatus
A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
Pigmentary retinal dystrophy
retinitis punctata albescens
obsolete glaucoma associated with anterior segment anomaly
Glaucoma associated with anterior segment anomaly (disorder)
Glaucoma associated with other anterior segment anomalies
obsolete glaucoma associated with ocular disorder
obsolete malignant neoplasm of cervical part of esophagus
malignant neoplasm of cervical esophagus
malignant neoplasm of cervical oesophagus
malignant neoplasm of the cervical esophagus
malignant tumor of cervical part of esophagus (disorder)
obsolete psychosexual dysfunction with female orgasmic disease
hydronephrosis
An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.
obsolete syphilitic retrobulbar neuritis
Syphilitic retrobulbar neuritis (disorder)
Gilles de la Tourette syndrome
A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
Guinon's disease
Psychogenic tics
Tourette syndrome
motor-verbal tic disorder
obsolete neck cancer
malignant neoplasm of neck
malignant neoplasm of neck NOS (disorder)
malignant tumor of neck (disorder)
malignant tumor of the neck
neck cancer
cancer of neck
psychologic dyspareunia
Dyspareunia, psychogenic
Non-organic dyspareunia
pulpitis
A dental pulp disease characterized by inflammation.
pulp stones
dental pulp disease
A tooth disease located_in dental pulp.
Dental pulp disorder
disorder of pulp of tooth
pulp disorder
IgA vasculitis
A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
Allergic purpura
Autoimmune purpura
HSP
Henoch Schoenlein purpura
Henoch Scholein purpura
Henoch Schonlein purpura
Henoch Schönlein purpura
Henoch-Schoenlein purpura
Henoch-Scholein purpura
Henoch-Schonlein purpura
Henoch-Schönlein purpura
IgAV
Purpura, autoimmune
immunoglobulin A vasculitis
hypersensitivity vasculitis
A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers.
qualitative platelet defect
Qualitative platelet deficiency
acquired thrombocytopenia
secondary thrombocytopenia
dislocation of ear ossicle
obsolete malignant esophageal neoplasm by anatomic region
prostatic hypertrophy
prostatic cyst
Cyst of prostate
prolapse of lacrimal gland
Dislocation of lacrimal gland
esophagus sarcoma
An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus.
esophageal sarcoma
obsolete anthrax septicemia
Anthrax septicemia (disorder)
obsolete Pars plana primary cyst
primary cyst of pars plana
primary cyst of pars plana (disorder)
obsolete vascular lesions of cord complicating labor and delivery
antepartum vascular lesions of cord complicating labor and delivery
vascular lesions of cord complicating labor and delivery, delivered
hypersecretion glaucoma
A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow.
ocular hypertension
An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.
aqueous misdirection
A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity.
obsolete glaucoma due to raised episcleral venous pressure
Glaucoma with increased episcleral venous pressure
Glaucoma with increased episcleral venous pressure (disorder)
cholecystolithiasis
miliaria rubra
A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction.
prickly heat
hypohidrosis
A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands.
Oligohidrosis
sweat gland disease
A skin disease located_in the sweat glands.
obsolete disorder of optic chiasm associated with non-pituitary neoplasm
disorder of optic chiasm associated with non-pituitary neoplasm (disorder)
disorder of optic chiasm associated with other neoplasm
pertussis
A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
WC - Whooping cough
bordetella infection
whooping cough
neonatal respiratory failure
A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates.
respiratory failure of newborn
respiratory failure
A lung disease characterized by inadequate gas exchange by the respiratory system.
acute and chronic respiratory failure
acute respiratory Failure
acute-on-chronic respiratory failure
chronic respiratory failure
respiratory insufficiency/failure
obsolete apnea of prematurity
primary apnea of newborn
band keratopathy
Band-shaped keratopathy
corneal degeneration
common wart
A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
obsolete uterine cervix condylomata acuminata
An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts.
Condyloma of the Cervix Uteri
anogenital venereal wart
A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
Anogenital Human papilloma Virus Infectious Disease
Anogenital warts
Genital warts
genital wart virus infectious disease
venereal wart
Condyloma acuminatum
obsolete vaginal condylomata acuminata
An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts.
vaginal Condyloma Acuminatum
obsolete vulvar condylomata acuminata
An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts.
Condyloma acuminata of vulva (disorder)
Vulvar Condyloma
obsolete urethral condylomata acuminata
An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts.
urethral Condylomata
obsolete anal condylomata acuminata
An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts.
Condylomata of anus
enophthalmos
orbital disease
An adnexa disease that is located_in the eye socket.
total internal ophthalmoplegia
pupil disease
Pupillary disorder
obsolete otitis media with effusion
A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media.
Glue ear
Mucoid otitis media
Mucoid otitis media NOS (disorder)
Otitis media with effusion
Otitis media with effusion - mucoid
Otitis media, transudative
Secretory Otitis Media
Transudative otitis media
non-suppurative otitis media
A otitis media which involves transudation of fluid in the middle ear without pus formation.
Nonsuppurative otitis media
serous glue ear
A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment.
obsolete chronic otitis media with effusion
A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting.
obsolete Haemophilus influenzae septicemia
Hemophilus influenzae septicemia (disorder)
Septicemia due to H. influenzae
Septicemia due to hemophilus influenzae [H. influenzae]
acute conjunctivitis
conjunctivitis
A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.
Madras eye
allescheriosis
A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses.
Petriellidosis
pulp degeneration
obsolete large for dates affecting management of mother
Excessive fetal growth affecting management of mother, delivered
Excessive fetal growth, affecting management of mother, antepartum
Excessive fetal growth, affecting management of mother, delivered
antepartum excessive fetal growth affecting management of mother
pseudomembranous conjunctivitis
A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid.
acute laryngopharyngitis
An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
serous conjunctivitis except viral
A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge.
serous conjunctivitis, except viral
DiGeorge syndrome
A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
22q11.2 deletion syndrome
DiGeorge sequence
DiGeorge's syndrome
Pharyngeal pouch syndrome
parathyroid gland disease
An endocrine system disease that is located_in the parathyroid gland.
disease of parathyroid glands
esophageal varix
Bleeding esophageal varices
Bleeding oesophageal varices
esophageal varices
esophageal varices in disease classified elsewhere, with bleeding
esophageal varices with bleeding
esophageal varices with bleeding in disease EC
esophageal varices without bleeding
esophageal varices without mention of bleeding
primary hyperparathyroidism
A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.
familial primary hyperparathyroidism
hyperparathyroidism
A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
Angelucci's syndrome
Angelucci syndrome
acute atopic conjunctivitis
allergic conjunctivitis
A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
chronic conjunctivitis
opioid abuse
A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
substance abuse
A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
buphthalmos
A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
primary congenital glaucoma 3A
simple buphthalmos
hydrophthalmos
A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
blepharospasm
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
acute contagious conjunctivitis
A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus.
Contagious opthalmia
Pink eye
Pinkeye
obsolete premature rupture of the fetal membranes
Premature rupture of membranes - delivered (disorder)
antepartum premature rupture of membranes
delivered premature rupture of membranes
chronic tympanitis
tympanic membrane disease
conjunctival folliculosis
An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae.
acute follicular conjunctivitis
obsolete spinal enthesopathy
Spinal enthesopathy (disorder)
small intestine diverticulitis
Diverticulosis of small intestine with hemorrhage
diverticulitis
An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.
acute hemorrhagic conjunctivitis
A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis.
Apollo disease
Epidemic hemorrhagic conjunctivitis
viral conjunctivitis
spondyloarthropathy
spondarthropathy
spondylarthrosis
acute orbital inflammation
acute inflammation of orbit
orbital periostitis
An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit.
orbital osteomyelitis
An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum.
orbital tenonitis
An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon.
Tenonitis
orbital cellulitis
An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision.
adhesive otitis media
An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.
chronic adhesive otitis media
appendix disease
A gastrointestinal system disease that is located_in the appendix.
appendiceal neoplasm
appendix neoplasm
neoplasm of appendix
appendix lymphoma
Appendiceal Lymphoma
plethora of newborn
Neonatal polycythemia
anemia of prematurity
A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks.
neonatal anemia
An anemia that is characterized by a lower red blood cell count than normal in neonates.
anaemia neonatal
anemia neonatal
neonatal anaemia
transient neonatal neutropenia
DIC in newborn
Disseminated intravascular coagulation in newborn
disseminated intravascular coagulation
DIC
Defibrination syndrome
Diffuse or disseminated intravascular coagulation
obsolete hemorrhagic disease of newborn
Hemorrhagic diathesis of newborn
Hemorrhagic disease of newborn
Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder)
hemorrhagic disease of newborn
vitamin K deficiency bleeding
A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
deficiency of vitamin K
vitamin K deficiency
vitamin K deficiency hemorrhagic disease
Brill-Zinsser disease
An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
Brill Zinsser disease
Brill's disease
Recrudescent typhus
Latent typhus
Sporadic typhus
social phobia
A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
phobic disorder
An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
cat-scratch disease
A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
Debre's Syndrome
Debre-Mollaret Syndrome
Foshay-Mollaret Cat Scratch Fever
benign lymphoreticulosis
cat scratch fever
obsolete Cytomegalovirus infectious disease
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.
Cytomagalovirus infection
Cytomegaloviral disease
Cytomegaloviral disease, unspecified
Cytomegaloviral disease, unspecified (disorder)
Cytomegalovirus infection (disorder)
Salivary gland virus disease
cytomegalovirus infection
rabies
A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs.
Lyssa
obsolete foot and mouth disease
A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.
Epizootic stomatitis
ornithosis
A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
psittacosis
chlamydia
A commensal bacterial infectious disease that is caused by Chlamydia trachomatis.
Chlamydia trachomatis infectious disease
Chlamydial Infection
chlamydial disease
obsolete Chlamydophila infectious disease
trachoma
A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
active stage trachoma
trachoma dubium
keratomalacia
obsolete vitamin A deficiency with keratomalacia
vitamin A deficiency with keratomalacia (disorder)
chronic apical periodontitis
periapical periodontitis
Apical periodontitis
obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium
hypertension secondary to renal disease, antepartum
hypertension secondary to renal disease, postpartum
hypertension secondary to renal disease, with delivery
obsolete muscle syphilis
Syphilis of muscle (disorder)
Plummer's disease
Plummer disease
toxic nodular goiter
solar retinopathy
Solar retinitis
peripheral scars of retina
obsolete disseminated scars of retina
tick paralysis
A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage.
tick infestation
A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice.
obsolete neuromuscular junction toxic disorder
Toxic myoneural disorder
Toxic myoneural junction disorder
obsolete conditions involving the integument and temperature regulation of fetus and newborn
ventilation pneumonitis
An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
Air-conditioner and humidifier lung
Humidifier lung
extrinsic allergic alveolitis
An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
alveolitis
hypersensitivity pneumonitis
pituitary apoplexy
pituitary infarct
Pituitary infarction
arteriovenous malformation
A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
Arteriovenous hemangioma
Cirsoid aneurysm
Racemose Angioma
Racemose aneurysm
Racemose hemangioma
retinal microaneurysm
vertebral artery occlusion
Occlusion and stenosis of vertebral artery
occlusion precerebral artery
Occlusion and stenosis of multiple and bilateral precerebral arteries
occlusion and stenosis of precerebral artery
obsolete pneumopericardium
necrosis of pituitary
Pituitary necrosis
cercarial dermatitis
A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection.
Cutaneous schistosomiasis
Sea bather's eruption
obsolete subchronic state latent schizophrenia with acute exacerbation
obsolete latent schizophrenia in remission
Latent schizophrenia in remission (disorder)
Latent schizophrenia, in remission
obsolete chronic latent schizophrenia
Latent chronic Schizophrenia
Latent schizophrenia, chronic state
chronic latent schizophrenia (disorder)
Mobitz type II atrioventricular block
Mobitz (type) II atrioventricular block
Mobitz II atrioventricular block
obsolete Histoplasma duboisii retinitis
An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions.
Histoplasma duboisii with retinitis (disorder)
African histoplasmosis
A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions.
histoplasmosis
A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
histoplasmosis retinitis
Histoplasmosis with retinitis
Kyasanur forest disease
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus (Orthoflavivirus kyasanurense), which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems.
obsolete acute schizophrenic episode subchronic state with acute exacerbation
schizophreniform disorder
A psychotic disorder that involves schizophrenia symptoms over time period of one month.
psychotic disorder
A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
mental or behavioural disorder
ainhum
A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
Dactylolysis spontanea
erysipelas
sarcoidosis
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
Boeck sarcoid
lymphogranulomatosis
rhinoscleroma
A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.
Lemierre's syndrome
A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
Lemierre syndrome
human necrobacillosis
postanginal sepsis
acute sore throat
tetanus
A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
Infection due to Clostridium tetani
clostridial tetanus
pneumocystosis
An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.
Pneumocystis carinii pneumonia
Pneumocystis jirovecii pneumonia
Pneumocystis pneumonia
Pneumocystosis pneumonia
pulmonary pneumocystosis
gingival recession
Gingival recession, localized
localized gingival recession
minimal gingival recession
moderate gingival recession
severe gingival recession
gingival disease
A periodontal disease that is located_in the gums.
gum disease
obsolete Pneumocystis infectious disease
An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions.
Infection by Pneumocystis carinii (disorder)
obsolete fungal lung infectious disease
A lung disease that is a mycosis caused by fungal growth in the lungs.
arcus senilis
Arcus of cornea
corneal arcus
scleral disease
An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
obsolete congenital osteodystrophy
obsolete Meniere's disease in remission
Inactive Meniere's disease
Mnire's disease in remission
obsolete epilepsia partialis continua
obsolete grand mal status epilepticus
Grand mal status
Grand mal status (disorder)
Grand mal status, epileptic
obsolete epilepsia partialis continua with intractable epilepsy
bladder diverticulum
A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen.
Diverticulum - bladder
Diverticulum of bladder
stone in bladder diverticulum
calculus in diverticulum of bladder
bladder calculus
lower urinary tract calculus
A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone.
phlebotomus fever
A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia.
Sandfly fever
Sandfly-borne arboviral fever
Sandfly-borne bunyavirus fever
Sandfly-borne phleboviral disease
pappataci fever
obsolete tickborne fever
Tick-borne fever (disorder)
Tick-borne fever NOS (disorder)
pasture fever
tick-borne fever
lens subluxation
Subluxation of lens
congenital aphakia
APHAKIA, CONGENITAL PRIMARY
Congenital absence of lens
functional diarrhea
functional diarrhoea
anal spasm
obsolete calculus of gallbladder and bile duct with acute cholecystitis
calculus of gallbladder and bile duct with acute cholecystitis, with obstruction
gnathomiasis
A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.
Gnathostomiasis
Infectious Disease by Gnathostoma
spinal meningioma
Spinal Cord meningioma
spinal canal and spinal cord meningioma
corneal neovascularization
cryptorchidism
Cryptorchism
Undescended testicle
Undescended testis
undescended testicles
expressive language disorder
A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
Developmental expressive language disorder
epidural abscess
A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges).
abscess epidural
subdural empyema
A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space.
Subdural abscess
cerebral arteritis
pulmonary edema
A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.
spinal cancer
A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).
spinal cord cancer
Intraspinal tumor
malignant tumor of the Spinal Cord
spinal cord neoplasm
tumor of the Spinal Cord
spinal neoplasm
pyelitis
xanthogranulomatous pyelonephritis
obsolete depressive state induced by drug
Drug-induced depressive state (disorder)
Drug-induced mood disorder
obsolete diphtheritic laryngotracheitis
A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough.
laryngeal Diphtheria
laryngeal diphtheria
laryngeal diphtheria (disorder)
diphtheria
A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.
corynebacterium infection
choroid disease
An uveal disease that is located_in the choroid.
obsolete syphilitic disseminated chorioretinitis
Syphilitic disseminated retinochoroiditis (disorder)
obsolete alternating exotropia with V pattern
Alternating exotropia with V pattern (disorder)
obsolete Trichomonas urethritis
A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination.
Trichomonal urethritis (disorder)
trichomonal urethritis
alternating exotropia
exotropia
Divergent Strabismus
Divergent concomitant strabismus
obsolete acquired cavovarus foot deformity
Cavovarus deformity of foot, acquired
acquired cavovarus deformity of foot (disorder)
fallopian tube endometriosis
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube.
Endometriosis of fallopian tube
endometriosis
A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
endosalpingiosis
A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
endometriosis of intestine
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine.
endometriosis of pelvic peritoneum
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum.
endometriosis in scar of skin
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin.
endometriosis of rectovaginal septum and vagina
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina.
endometriosis of ovary
A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary.
ovarian endometriosis
obsolete recurrent cholesteatoma post-mastoidectomy
recurrent cholesteatoma of postmastoidectomy cavity
recurrent cholesteatoma of postmastoidectomy cavity (disorder)
obsolete macrodactylia of toes
Macrodactylia of toes (disorder)
obsolete malignant mast cell tumors involving lymph node of head
Mast cell malignancy of lymph nodes of head, face and neck (disorder)
malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder)
malignant mast cell tumors involving lymph nodes of head, face, and neck
sciatic neuropathy
lesion of sciatic nerve
allergic cutaneous vasculitis
A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.
Allergic Cutaneous Angiitis
Autoimmune Hypersensitivity angiitis
obsolete secondary syphilitic meningitis
acute secondary syphilitic meningitis (disorder)
acute syphilitic meningitis (secondary)
secondary acute syphilitic meningitis
perinatal jaundice due to hepatocellular damage
neonatal jaundice
A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
neonatal hyperbilirubinemia
neonatal icterus
brain compression
A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain.
pseudotumor cerebri
benign intracranial hypertension
idiopathic intracranial hypertension
intracranial hypertension
A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.
Raised intracranial pressure
subglottis cancer
Ca larynx - subglottis
malignant Subglottic tumor
malignant tumor of subglottis
larynx cancer
A respiratory system cancer that is located_in the larynx.
constrictive pericarditis
hemopericardium
A pericardial effusion that results from blood in the pericardial sac.
Haemopericardium
pericardial effusion
A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
Horner's syndrome
An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
Bernard Horner syndrome
Horner syndrome
cervical sympathetic paralysis
autonomic neuropathy
idiopathic peripheral autonomic neuropathy
obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot
vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder)
vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder)
obsolete vitamin A deficiency with night blindness
vitamin A deficiency with night blindness (disorder)
acquired night blindness
A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated.
cardiac tamponade
A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.
Rose's tamponade
pericardial tamponade
obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium
bone and joint disorder of back, pelvis and lower limbs of mother, antepartum
bone and joint disorder of back, pelvis and lower limbs of mother, postpartum
bone and joint disorder of back, pelvis and lower limbs of mother, with delivery
bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum
bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum
bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery
mitral valve insufficiency
Congenital insufficiency of mitral valve
Mitral valve incompetence
congenital mitral insufficiency
congenital mitral regurgitation
mitral regurgitation
mitral valve disease
Mitral RH valve dis.
Rheumatic mitral insufficiency
Rheumatic mitral valve changes
Rheumatic mitral valve regurgitation
chronic rheumatic mitral valve
disease of mitral valve
rheumatic disease of mitral valve
rheumatic mitral valve incompetence
diabetic autonomic neuropathy
rumination disorder
An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
Psychogenic rumination
Budd-Chiari syndrome
A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.
hepatic vein thrombosis
fissured tongue
Congenital fissure of tongue
Congenital plicated tongue
Fissure of tongue
Fissure of tongue, congenital
Furrowed tongue
Plicated tongue
Tongue, Fissured
geographic tongue and fissured tongue
lingua plicata
scrotal tongue
hypertensive heart disease
A heart disease that is caused by high blood pressure.
abnormal pupillary function
benign hypertensive renal disease
hypertensive renal disease, benign
hypertensive renal disease, benign, without mention of renal failure
obsolete Clostridium perfringens gastroenteritis
A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas.
Clostridium perfringens food poisoning
Food poisoning due to C. welchii
Food poisoning due to Clostridium perfringens (disorder)
Food poisoning due to Clostridium perfringens [C. welchii]
food poisoning due to clostridium perfringens
obsolete Hyphema of iris and ciliary body
obsolete Iris and ciliary body vascular disorder
vascular disorder of iris and ciliary body
laryngostenosis
Stenosis of larynx
obsolete dysplasia of prostate
recurrent corneal erosion
recurrent erosion of cornea
recurrent erosion syndrome
corneal abscess
deep keratitis
corneal deposit
Deposits - cornea
Adie syndrome
A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
Adie's pupil or syndrome
Adie's pupil syndrome
Adie's syndrome
Holmes-Adie syndrome
oculomotor nerve paralysis
III nerve palsy
IIIrd nerve Paralysis
Third cranial nerve paralysis
third cranial nerve disease
Oculomotor nerve disorder
disorder of oculomotor nerve
Bowman's membrane folds or rupture
Bowman membrane folds or rupture
Chandler syndrome
A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma.
Chandler's syndrome
Dystrophy of corneal endothelium
Endothelial corneal dystrophy
Posterior membrane corneal dystrophy
Fuchs' endothelial dystrophy
A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
FCED
Fuchs' corneal dystrophy
Fuchs' endothelial corneal dystrophy
acute serous otitis media
A acute transudative otitis media with thin, watery and sterile effusion.
acute non-suppurative otitis media - serous
acute transudative otitis media
A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course.
acute non-suppurative otitis media
acute nonsuppurative otitis media
acute otitis media with effusion
acute secretory otitis media
acute allergic serous otitis media
A acute serous otitis media caused by an allergen.
chondrocalcinosis
An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
calcium pyrophosphate deposition disease
pseudogout
arthritis
A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.
Inflammatory disorder of joint
hypertensive retinopathy
retinal vasculitis
A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.
neurocirculatory asthenia
A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.
Cardiovascular malfunction arising from mental factors
Cardiovascular neurosis
Da Costa's syndrome
Krishaber's disease
Listeria meningitis
A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection.
listeriosis
A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
Infection by Listeria monocytogenes
Listeria infection
streptococcal meningitis
A bacterial meningitis that has_material_basis_in streptococcal bacteria.
obsolete pneumococcal meningitis
Pneumococcal meningitis
Pneumococcal meningitis (disorder)
Cauda equina syndrome
A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
obsolete Escherichia coli meningitis
Escherichia coli meningitis (disorder)
Meningitis due to E. coli
phlyctenulosis
Phlyctenular keratoconjunctivitis
Strumous ophthalmia
keratoconjunctivitis
obsolete syphilitic aortitis
Syphilitic aortitis
Syphilitic aortitis (disorder)
obsolete acute schizophrenic episode in remission
familial dysautonomia
A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death.
HSAN III
HSAN3
Riley-Day syndrome
hereditary sensory and autonomic neuropathy type 3
hereditary sensory and autonomic neuropathy type III
functional gastric disease
bladder lateral wall cancer
Lateral Wall of bladder
malignant neoplasm of lateral wall of urinary bladder
ring staphyloma
scleral staphyloma
Scleral ectasia
obsolete cold injury syndrome of newborn
Cold injury syndrome of newborn (disorder)
Frey syndrome
An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways.
Baillarger syndrome
gustatory hyperhidrosis
gustatory sweating
pericardium cancer
Pericardial tumor
malignant neoplasm of pericardium
malignant tumor of Pericardium
heart cancer
A cardiovascular cancer located_in the heart.
Cardiac tumor
Tumour of heart
malignant Cardiac tumor
malignant neoplasm of heart
obsolete secondary malignant neoplasm of lymph nodes of multiple site
secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder)
secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder)
secondary and unspecified malignant neoplasm of lymph nodes of multiple sites
secondary malignant neoplasm of lymph nodes of multiple sites (disorder)
infant gynecomastia
A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.
Neonatal gynaecomastia
breast engorgement in newborn
obsolete idiopathic hydrops fetalis
Hydrops fetalis not due to isoimmunization
Idiopathic hydrops fetalis (disorder)
Idiopathic hydrops fetalis (disorder) [Ambiguous]
Non-immune hydrops fetalis
Non-immune hydrops fetalis (disorder)
Perinatal skin prob. NOS
obsolete ileal disease
obsolete candidal meningitis
A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses.
Candida meningitis
Candidal meningitis (disorder)
polycystic ovary syndrome
An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
Multicystic ovaries
PCOS
Polycystic Ovarian disease
Polycystic ovaries
Stein-Leventhal synd.
Stein-Leventhal syndrome
polycystic ovary
hyperandrogenism
hyperandrogenization syndrome
penile cancer
Ca penis
Penile Ca
malignant Penile tumor
malignant neoplasm of body of penis
penile neoplasm
penile disease
dental pulp necrosis
A dental pulp disease characterized by death of the pulp tissue.
necrosis of the pulp
necrotic pulp
pulp necrosis
penile benign neoplasm
Penile tumor
neoplasm of penis
pelvic muscle wasting
A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two.
prolapse of female genital organ
A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening.
thyroid hormone resistance syndrome
Generalized thyroid hormone resistance
Refetoff syndrome
Thyroid hormone responsiveness defect
thyroid hormone resistance
myxedema
accommodative spasm
Spasm of accommodation
presbyopia
obsolete transitory tachypnea of newborn
Idiopathic tachypnea of newborn
Transitory tachypnea of newborn (disorder)
bronchopulmonary dysplasia
A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.
Bronchopulmonary dysplasia of newborn
Chronic lung disease of prematurity
Neonatal chronic lung disease
Perinatal bronchopulmonary dysplasia
Respiratory insufficiency
neonatal chronic respiratory disease
conjunctival deposit
obsolete nevus of ota
Naevus fuscocerulophthalmomaxillaris
Naevus fusoceruleus ophthalmomaxillaris
Oculocutaneous melanocytic nevus
Oculodermal malanocytosis
nevus of Ota (disorder)
primary acquired melanosis
primary acquired melanosis of conjunctiva (disorder)
cicatricial pemphigoid
A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
Cicatricial pemphigoid with ocular involvement
Ocular pemphigoid
benign mucous membrane pemphigoid
benign mucous membrane pemphigoid with ocular involvement
ocular pemphigus
palindromic rheumatism
An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms.
Hench's syndrome
Hench-Rosenberg syndrome
blue color blindness
A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.
Tritan defect
Tritanopia
color blindness
A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
BLINDNESS COLOR
Colour blindness
Colour vision deficiency
obsolete color vision defect
nephrosclerosis
renal sclerosis
Patau syndrome
D1 Trisomy
trisomy 13
Patau's syndrome
hypopigmentation of eyelid
A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances.
hypertrichosis of eyelid
hypotrichosis of eyelid
onchocerciasis
A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
Infection by Onchocerca volvulus
Onchocerca volvulus infection
volvulosis
obsolete ocular onchocerciasis
A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness.
Ocular Onchocerciasis
Ocular onchocerciasis (disorder)
river blindness
obsolete glaucoma associated with systemic syndromes
Glaucoma associated with systemic syndromes (disorder)
melanoacanthoma
seborrheic keratosis
inflamed seborrheic keratosis
acute apical periodontitis
acute apical periodontitis of pulpal origin
portal vein thrombosis
A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
obsolete chronic hypomanic disorder
chronic hypomanic personality disorder
obsolete intrathoracic lymph node tuberculosis
A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe.
Tuberculosis of intrathoracic lymph nodes (disorder)
Tuberculosis of intrathoracic lymph nodes NOS (disorder)
Tuberculosis of intrathoracic lymph nodes, unspecified examination
cardiovascular cancer
An organ system cancer that located_in the heart and blood vessels.
Cardiovascular tumors
cardiovascular neoplasm
selective IgA deficiency disease
A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.
Immunoglobulin A deficiency
Selective immunoglobulin A deficiency
selective IgA immunodeficiency
selective immunoglobulin deficiency disease
A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.
obsolete impaired renal function disease
hyperlipoproteinemia type V
Fredrickson type V lipaemia
familial hyperlipoproteinemia type V
familial type 5 hyperlipoproteinemia
obsolete Pregnancy in Diabetics
Diabetes in Pregnancy
Diabetes mellitus, antepartum
pregnancy diabetes
lipoatrophic diabetes mellitus
A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.
lipoatrophic diabetes
type 2 diabetes mellitus
A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
NIDDM
insulin resistance
non-insulin-dependent diabetes mellitus
type 2 diabetes
type II diabetes mellitus
diabetic angiopathy
A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
Diabetic vascular disorder
diabetic peripheral angiopathy
gestational diabetes
A diabetes mellitus that manifests during pregnancy.
GDM
Gestational diabetes mellitus
Maternal gestational diabetes mellitus
prediabetes syndrome
A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
Prediabetes
impaired glucose tolerance
prediabetic state
antidepressant type abuse
A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.
oculopharyngeal muscular dystrophy
Muscular dystrophy, oculopharyngeal
hyperlipoproteinemia type IV
Endogenous hyperlipidaemia
Fredrickson type IV Lipidemia
Fredrickson type IV hyperlipoproteinemia
Fredrickson type IV lipidaemia
VLDL hyperlipoproteinemia
familial hypertriglyceridemia
glycogen storage disease VII
A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
Glycogen storage disease 7
Glycogen storage disease, type VII
Muscle phosphofructokinase deficiency
glycogen storage disease type VII
phosphofructokinase myopathy
myotonic dystrophy type 1
A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
Dystrophia myotonica
Steinert disease
congenital myotonic dystrophy
myotonic dystrophy of Steinert
Duchenne muscular dystrophy
A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Muscular dystrophy, Duchenne
Lyme disease
A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
Bannwarth syndrome
Bannworth's syndrome
Lyme borreliosis
Neurological Lyme disease
lyme neuroborreliosis
neuroborreliosis
obsolete Borrelia infectious disease
Borreliosis (disorder)
Borreliosis, NOS
borreliosis
obsolete syphilitic myocarditis
Syphilitic myocarditis (disorder)
obsolete syphilitic aortic aneurysm
Aneurysm of aorta, specified as syphilitic
Syphilitic aneurysm of aorta (disorder)
obsolete syphilitic pericarditis
Syphilitic pericarditis (disorder)
obsolete single manic episode in full remission
Manic disorder, single episode, in full remission
Single manic episode in full remission (disorder)
odontoclasia
obsolete Chlamydophila pneumoniae pneumonia
A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress.
Chlamydial pneumonia (disorder)
Pneumonia due to Chlamydia
parametrium malignant neoplasm
A uterine adnexa cancer that is located_in the parametrium.
uterine cancer
A female reproductive organ cancer that is located_in the uterus.
CA - cancer of uterus
Tumour of uterus
malignant neoplasm of uterus
malignant uterine tumor
neoplasm of uterus
uterine tumor
uterus neoplasm
round ligament malignant neoplasm
A uterine adnexa cancer that is located_in the round ligament.
malignant neoplasm of round ligament
malignant neoplasm of round ligament of uterus
Bordetella parapertussis whooping cough
A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose.
acute endophthalmitis
obsolete biliary calculus with acute cholecystitis
siderosis of eye
An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body.
Siderosis of globe
choledocholithiasis
A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct.
biliary calculus
common bile duct disease
A bile duct disease that is located_in the common bile duct.
obsolete calculus of bile duct with acute cholecystitis
bile duct calculus with acute cholecystitis and obstruction
bile duct calculus with acute cholecystitis and obstruction (disorder)
bile duct calculus with acute cholecystitis and obstruction NOS (disorder)
calculus of bile duct with acute cholecystitis with obstruction (disorder)
calculus of bile duct with acute cholecystitis, with obstruction
iron deficiency anemia
A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.
hypochromic anemia
An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.
ANEMIA HYPOCHROMIC
Kohler's disease
An osteochondrosis that results_in death and collapse located_in navicular bone of foot.
Juvenile osteochondrosis of foot
Kohler disease
osteochondrosis
An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
Epiphyseal necrosis
apophysitis
epiphysitis
osteochondritis
osteochondritis juvenilis
blind hypotensive eye
ocular hypotension
Hypotony of eye
obsolete hypersecretion of testicular hormones
testicular hyperfunction
testicular hyperfunction (disorder)
spontaneous ocular nystagmus
Ocular nystagmus
Searching eye movements
visual deprivation nystagmus
pathologic nystagmus
leukocoria
Leucocoria
obsolete hereditary trophedema
Hereditary edema of legs
Hereditary edema of legs NOS (disorder)
Hereditary edema of legs [dup] (disorder)
Hereditary trophedema (disorder)
Hereditary trophoedeme
absolute glaucoma
A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance.
blind hypertensive eye
regular astigmatism
necrosis of ear ossicle
partial loss or necrosis of ear ossicles
splenic sequestration
chronic congestive splenomegaly
phthisical cornea
chronic laryngitis
A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
laryngitis
A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption.
protein-energy malnutrition
A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.
obsolete protein deficiency
protein deficiency
obsolete macrodactylia of fingers
Macrodactylia
Macrodactylia (fingers)
Macrodactylia of fingers (disorder)
bladder neck cancer
malignant neoplasm of urinary bladder neck
malignant tumor of bladder neck
obsolete metastatic neoplasm to the bladder
metastatic tumor to the urinary bladder
secondary malignant neoplasm of bladder (disorder)
urinary bladder posterior wall cancer
malignant neoplasm of posterior wall of urinary bladder
bladder sarcoma
A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
sarcoma of bladder
sarcoma of the urinary bladder
bladder trigone cancer
malignant neoplasm of trigone of urinary bladder
malignant tumor of trigone of bladder
malignant tumor of trigone of urinary bladder
urinary bladder anterior wall cancer
malignant neoplasm of anterior wall of urinary bladder
obsolete recurrent malignant bladder neoplasm
vitreous syneresis
Vitreous degeneration
urachus cancer
malignant tumor of urachus
ureteral orifice cancer
An urinary bladder cancer located_in the ureteral orifice.
malignant neoplasm of ureteric orifice of urinary bladder
malignant tumor of ureteral orifice
malignant tumor of ureteric orifice
ureteric orifice cancer
ureter cancer
A urinary system cancer that is located_in the ureter.
malignant tumour of ureter
malignant ureteral tumor
ureteral disease
A urinary system disease that is located_in the ureter.
bladder dome cancer
Superior Surface of bladder
malignant neoplasm of apex of urinary bladder
malignant neoplasm of dome of urinary bladder
malignant tumor of vault of bladder
bladder lymphoma
Lymphoma of the urinary bladder
hepatorenal syndrome
An acute kidney failure that is characterized by severe renal vasoconstriction.
acute kidney failure
multicentric reticulohistiocytosis
A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
Lipoid dermatoarthritis
obsolete visual cortex disorder due to vascular disorder
degenerative myopia
degenerative progressive high myopia
pathological myopia
progressive high (degenerative) myopia
progressive high myopia
myopia
A refractive error characterized by the inability to see farther objects clearly.
near vision
near-sightedness
short-sightedness
obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis
Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis
cortical blindness
visual cortex disease
visual cortex dysfunction
visual epilepsy
epilepsy, visual
clubfoot
A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
Congenital equinovarus
Equinovarus deformity of foot
congenital clubfoot
congenital talipes equinovarus
obsolete malignant neoplasm of scapula and long bones of upper limb
penis sarcoma
A sarcoma and malignant neoplasm of penis that is located_in the penis.
sarcoma of penis
glans penis cancer
malignant neoplasm of glans penis
malignant tumor of glans penis
malignant tumour of glans penis
nephrosis
A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.
coronary thrombosis
Coronary artery thrombosis
obsolete degenerative changes of ciliary body
Ciliary body degenerative changes (disorder)
degenerative changes of ciliary body (disorder)
transient refractive change
indeterminate leprosy
A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.
Uncharacteristic leprosy
obsolete aortic valve syphilitic endocarditis
Syphilitic endocarditis of aortic valve (disorder)
monocular exotropia
obsolete monocular exotropia with A pattern
Monocular exotropia with A pattern (disorder)
obsolete intermittent monocular exotropia
Intermittent exotropia, monocular
Intermittent monocular exotropia (disorder)
Monocular intermittent exotropia (disorder)
obsolete monocular exotropia with V pattern
Monocular exotropia with V pattern (disorder)
obsolete prolonged pregnancy
obsolete late pregnancy
peripheral focal chorioretinitis
focal chorioretinitis
obsolete chronic erythremia
tibial neuropathy
Posterior tibial neuropathy
mononeuropathy
A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve.
Pick's disease
A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.
Dementia in Pick's disease
LOBAR ATROPHY OF BRAIN
PICK DISEASE OF BRAIN
Pick disease
macular keratitis
obsolete Staphylococcus aureus septicemia
Septicemia due to Staphylococcus aureus (disorder)
obsolete staphylococcal septicemia
abnormal threshold of rods
abnormal dark adaptation curve
night blindness
A retinal disease that is characterized by difficulty or the inability to see in relatively low light.
nyctalopia
denture stomatitis
Denture sore mouth
stomatitis
A mouth disease that is characterized by inflammation of the mouth and lips.
ureteral benign neoplasm
neoplasm of ureter
ureteral tumor
ureter leiomyoma
An ureteral benign neoplasm that derives_from smooth muscle cells.
ureteral leiomyoma
schwannoma of ureter
ureteral schwannoma
neurilemmoma
A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
Psammomatous schwannoma
schwannoma
peripheral nerve schwannoma
female breast nipple and areola cancer
A female breast cancer that is located_in the nipple and areola.
malignant neoplasm of nipple and areola of female breast
malignant neoplasm of nipple or areola of female breast
obsolete Amoebozoa infectious disease
A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa.
sarcodina
obsolete cutaneous amebiasis
An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body.
Amebic skin ulceration
Amebic ulcer of skin (disorder)
Amoebic skin ulceration
amebic ulcer of skin
obsolete Acanthamoeba keratitis
A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye.
Acanthameba keratitis
Acanthamoeba keratitis (disorder)
obsolete Blastocystis hominis infectious disease
A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence.
female reproductive organ cancer
A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
female reproductive cancer
malignant Gynecologic tumor
malignant neoplasm of female genital organ
obsolete cerebral amebiasis
An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses.
Amebic brain abscess
Amebic brain abscess (disorder)
amebic abscess of brain
labium majus cancer
A vulva cancer that is located_in the labium majus.
malignant neoplasm of labia majora
malignant tumor of Labia Majora
vulva cancer
A female reproductive organ cancer that is located_in the vulva.
Ca vulva
Vulvar tumor
malignant Vulvar tumor
malignant neoplasm of vulva
malignant tumor of vulva
neoplasm of vulva
vulval cancer
vulval neoplasm
vulvar neoplasm
ecthyma
impetigo
A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous.
gastroparesis
Gastroparalysis
Gastroparesis syndrome
gastric atonia
tinea cruris
A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
Dermatophytosis of groin & perianal area
Dhobie itch
dermatophytosis of groin and perianal area
peripheral nervous system neoplasm
A nervous system cancer that is located in the peripheral nervous system.
neoplasm of peripheral nerve
nerve sheath neoplasm
tumor of PNS
head and neck cancer
An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
head and neck neoplasm
head and neck tumours
head/neck neoplasm
tumor of head and neck
obsolete schizo-affective type schizophrenia subchronic state
obsolete Trichomonas vaginitis
A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area.
Leukorrhoea vaginalis - trichomonal
Trichomonal leukorrhoea
Trichomonal vaginitis &/or vulvovaginitis
Trichomonal vaginitis (disorder)
Trichomonal vulvovaginitis
Trichomonal vulvovaginitis (disorder)
vaginal trichomoniasis (disorder)
obsolete Trichomonas prostatitis
A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis.
Trichomonal prostatitis
Trichomonal prostatitis (disorder)
obsolete Trichomonas cystitis
A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color.
Trichomonal cystitis (disorder)
obsolete habitual abortion
Aborter - recurrent
Habitual aborter
Habitual aborter - unspecified (disorder)
Habitual aborter NOS (disorder)
chronic spontaneous abortion
recurrent abortion (disorder)
recurrent miscarriage
obsolete recurrent major depression in complete remission
Major depressive disorder, recurrent episode, in full remission
recurrent major depression in complete remission (disorder)
recurrent major depressive episodes, in full remission (disorder)
Creutzfeldt-Jakob disease
CJD
Creutzfeldt Jacob syndrome
Creutzfeldt Jakob disease
Creutzfeldt-Jacob disease
Jakob-Creutzfeldt disease
Subacute spongiform encephalopathy
Transmissible virus dementia
ischemic neuropathy
Ischemic peripheral neuropathy
obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium
antepartum congenital cardiovascular disorder of mother
postpartum congenital cardiovascular disorder of mother
obsolete Congenital cardiovascular disorder of mother, with delivery
obsolete psychosexual dysfunction with inhibited sexual excitement
Psychosexual Dysfunction with Inhibited Sexual Excitement
obsolete malnutrition of moderate degree
esophagitis
acute esophagitis
obsolete Histoplasma capsulatum retinitis
An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions.
Histoplasma capsulatum with retinitis (disorder)
postmenopausal atrophic vaginitis
A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency.
Senile vaginitis
atrophic vaginitis
vaginitis
A vaginal disease that is characterized by inflammation of the vagina.
obsolete symptomatic menopausal or female climacteric state
coloboma of optic nerve
Coloboma of optic disc
Morning glory syndrome
visual pathway disease
An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
obsolete disorder of magnesium metabolism
Magnesium disorder
disorder of magnesium metabolism
disorder of magnesium metabolism (disorder)
disorder of magnesium metabolism NOS (disorder)
obsolete chronic pyelonephritis without lesion of renal medullary necrosis
morbid obesity
Severe obesity
obesity
An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
Prader-Willi syndrome
A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
Prader Willi syndrome
obsolete anorectal gonorrhea
gonococcal infectious disease of anus and rectum
gonococcal proctitis
conjunctival concretion
ulceroglandular tularemia
A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion.
osteopoikilosis
An osteosclerosis that results_in numerous bone islands located_in skeleton.
atrophy of testis
testicular disease
disorder of testis
testis disorder
spermatic cord torsion
Torsion of testicle
Torsion of testis
testicular Torsion
spermatocele
reproductive organ cancer
An organ system cancer that is manifested in the reproductive organs.
Reproductive tumor
malignant reproductive system neoplasm
cancer of reproductive system
obsolete secondary malignant neoplasm of trachea
metastatic tumor to the Trachea
secondary malignant neoplasm of trachea (disorder)
tracheal lymphoma
Lymphoma of Trachea
lymphoma of the trachea
trachea sarcoma
A sarcoma and malignant tumor of trachea that is located_in the trachea.
sarcoma of the trachea
trachea squamous cell carcinoma
A squamous cell carcinoma that is located_in the trachea.
Tracheal Epidermoid carcinoma
trachea carcinoma
A tracheal cancer that effects the airway that leads from the larynx to the bronchi.
Pancoast's tumor
carcinoma of the trachea
trigeminal nerve neoplasm
neoplasm of trigeminal nerve
tumor of Trigeminal nerve
cranial nerve malignant neoplasm
A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
malignant neoplasm of cranial nerve
malignant tumor of cranial nerve
malignant tumor of the Cranial nerve
frontal lobe neoplasm
malignant neoplasm of frontal lobe
neoplasm of frontal lobe
tumor of Frontal Lobe
obsolete group B streptococcal pneumonia
A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly.
Group B
Group B streptococcal pneumonia (disorder)
Pneumonia due to Streptococcus Group B
obsolete group A streptococcal pneumonia
A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst.
pneumonia due to streptococcus group A
obsolete malignant neoplasm of corpus uteri, except isthmus
malignant neoplasm of corpus uteri, excluding isthmus (disorder)
obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes
Leukemic reticuloendotheliosis involving intrathoracic lymph nodes
Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder)
Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder)
obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease
spontaneous abortion, unspecified, complicated by genital tract and pelvic infection
Conn's syndrome
An adrenal adenoma characterized by the over production of aldosterone.
Conn syndrome
primary aldosteronism
sympathetic ophthalmia
A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia.
Sympathetic uveitis
panuveitis
An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
Diffuse uveitis
drug-induced mental disorder
substance-induced psychosis
uveitis
An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.
obsolete arthropathy due to hypersensitivity reaction
Arthropathy associated with a hypersensitivity reaction (disorder)
Arthropathy associated with hypersensitivity reaction
obsolete immune hydrops fetalis
Hydrops fetalis - due to isoim
Hydrops fetalis due to isoimmunization
Hydrops fetalis due to isoimmunization (disorder)
Hydrops fetalis due to isoimmunization [dup] (disorder)
kernicterus due to isoimmunization
obsolete cryptococcal meningitis
A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion.
Cryptococcal meningitis (disorder)
cryptococcosis
An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
Busse-Buschke's disease
European cryptococcosis
cryptococcal infection
torula
torulosis
cryptococcus neoformans infection
obsolete Trypanosoma meningitis
A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species.
Meningitis due to trypanosomiasis
Trypanosomiasis with meningitis (disorder)
trypanosomiasis with meningitis
sarcoid meningitis
Meningitis in sarcoidosis
neurosarcoidosis
A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
cerebral sarcoidosis
obsolete meningitis with clear cerebrospinal fluid
Non-pyogenic meningitis (disorder)
Nonpyogenic meningitis
Nonpyogenic meningitis (disorder)
obsolete Fetal-maternal hemorrhage affecting management of mother
Fetal-maternal hemorrhage, with delivery
Rett syndrome
A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Rett's disorder
cerebroatrophic hyperammonemia
obsolete fetal blood loss
Fetal blood loss (disorder)
Fetal blood loss NOS (disorder)
Fetal blood loss, unspecified (disorder)
Fetal haemorrhage
mediastinum neurofibroma
Neurofibroma of mediastinum
neurofibroma
obsolete ganglioneuroma of the mediastinum
Ganglioneuroma of mediastinum
Dieulafoy lesion
Dieulafoy lesion (hemorrhagic) of intestine
dieulafoy lesion (hemorrhagic) of stomach and duodenum
pylorospasm
obsolete interstitial emphysema and related conditions of newborn
transient arthropathy
Transient arthropathy involving forearm
Transient arthropathy involving hand
Transient arthropathy involving lower leg
Transient arthropathy involving multiple sites
Transient arthropathy involving pelvic region and thigh
Transient arthropathy involving shoulder region
Transient arthropathy involving upper arm
transient arthritis
deep corneal vascularisation
Deep vascularization of cornea
nutritional optic neuropathy
An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse.
obsolete vitamin A deficiency with corneal xerosis
vitamin A deficiency with corneal xerosis (disorder)
obsolete Galactorrhea associated with childbirth
sodoku disease
A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain.
Spirillary fever
Spirillosis
obsolete rat-bite fever
Rat bite fever (disorder)
Rat-bite fever
Rat-bite fever NOS (disorder)
Rat-bite fever, unspecified (disorder)
Unspecified rat-bite fever
trigeminal neuralgia
Trifacial neuralgia
trifocal neuralgia
trigeminal nerve disease
obsolete vitamin A deficiency with corneal xerosis and ulcer
vitamin A deficiency with corneal ulceration AND xerosis (disorder)
vitamin A deficiency with corneal ulceration and xerosis
vitamin A deficiency with corneal xerosis and ulcer (disorder)
inflammatory spondylopathy
Inflammatory spondylopathies in disease EC
Inflammatory spondylopathies in disease classified elsewhere
Inflammatory spondylopathy in disease classified elsewhere
spondylitis
obsolete tricuspid valve syphilitic endocarditis
Syphilitic endocarditis of tricuspid valve (disorder)
obsolete primary retinal cyst
primary retinal cyst (disorder)
primary retinal cysts
bullous retinoschisis
obsolete vitamin A deficiency with xerophthalmic corneal scar
vitamin A deficiency with xerophthalmic corneal scars (disorder)
vitamin A deficiency with xerophthalmic scars of cornea
vitamin A deficiency with xerophthalmic scars of cornea (disorder)
obsolete nerve deafness
nerve conduction deafness
neural hearing loss
neural hearing loss (finding)
obsolete streptococcal pharyngitis
A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills.
Septic sore throat due to streptococcal infection
Strept throat
Streptococcal angina
Streptococcal sore throat
Streptococcal sore throat NOS (disorder)
pulmonary alveolar microlithiasis
A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.
MESH C536281 obsoleted in 2024.[LS]
pulmonary hemosiderosis
A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.
Idiopathic pulmonary hemosiderosis
brown induration
brown lung
hemosiderosis
An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
haemosiderosis
pulmonary alveolar proteinosis
A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
obsolete secondary syphilitic periostitis
secondary syphilitic periostitis (disorder)
postinflammatory pulmonary fibrosis
Post-inflammatory pulmonary fibrosis
episcleritis periodica fugax
A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate.
neurotrophic keratoconjunctivitis
pica disease
An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.
bulimia nervosa
An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
hyperorexia nervosa
obsolete Tympanosclerosis of tympanic membrane and ossicles
Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder)
Tympanosclerosis involving tympanic membrane and ear ossicles
granulomatosis with polyangiitis
An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
Necrotizing respiratory granulomatosis
Wegener granulomatosis, formerly
obsolete Yersinia enterocolitica intestinal infectious disease
A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children).
Infection by Yersinia enterocolitica (disorder)
Yersinia enterocolitis
infectious disease by Yersinia enterocolitica
intestinal infection due to yersinia enterocolitica
factor VIII deficiency
A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
Congenital factor VIII disorder
Hemophilia A
Subhemophilia
classic hemophilia
classic hemophilia A
obsolete acquired factor VIII deficiency
acquired factor VIII deficiency disease (disorder)
obsolete acquired coagulation factor deficiency
acquired coagulation factor deficiency
acquired coagulation factor deficiency (disorder)
acquired coagulation factor deficiency NOS (disorder)
dysthymic disorder
A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
dysthymia
mood disorder
A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
episodic mood disorder
tympanosclerosis
Chagas disease
A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.
Chagas' disease
chagas' disease with digestive system involvement
chagas' disease with nervous system involvement
chagas' disease with other organ involvement
American trypanosomiasis
obsolete adenovirus meningitis
An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion.
non-arthropod-borne meningitis due to adenovirus
neurogenic bladder
Neuropathic bladder
neurogenic dysfunction of the urinary bladder
neurogenic urinary bladder disorder
low compliance bladder
Low bladder compliance
hyperactivity of bladder
hypertonic bladder
hypertonicity of bladder
detrusor sphincter dyssynergia
alveolar echinococcosis
An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.
Multilocular hydatid
alveolococcosis
small fox tapeworm
echinococcus multilocularis infection
obsolete Tympanosclerosis of tympanic membrane only
Tympanosclerosis involving tympanic membrane only
Tympanosclerosis involving tympanic membrane only (disorder)
obsolete calculus of gallbladder with acute cholecystitis, with obstruction
Cholelithiasis AND acute cholecystitis with obstruction (disorder)
gallbladder calculus with acute cholecystitis and obstruction (disorder)
gallbladder calculus with acute cholecystitis and obstruction NOS (disorder)
obsolete currently pregnant habitual aborter
lymphocytic choriomeningitis
A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.
LCM
Lymphocytic choriomeningitis virus encephalomyelitis
Lymphocytic meningitis
Lymphocytic meningoencephalitis
arachnoiditis
aseptic meningitis
A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.
acute aseptic meningitis
peripheral retinal degeneration
peripheral degeneration of retina
pseudoretinitis pigmentosa
secondary pigmentary degeneration of retina
secondary pigmentary retinal degeneration
senile reticular retinal degeneration
Senile reticular degeneration of retina
Blessig's cysts
Blessig cysts
Iwanoff's cysts
Microcystoid degeneration of retina
Microcystoid retinal degeneration
retinal lattice degeneration
Palisade degeneration of retina
cobblestone retinal degeneration
Paving stone degeneration of retina
Paving stone retinal degeneration
secondary vitreoretinal degeneration
ulnar nerve lesion
Lesion of ulnar nerve
mononeuritis of upper limb and mononeuritis multiplex
nerve compression syndrome
Compression neuropathy
entrapment neuropathy
peripheral nerve entrapment syndrome
fascioloidiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna.
radial nerve lesion
Lesion of radial nerve
Radial nerve lesions
radial neuropathy
dyshormonogenic goiter
dyshormonogenic goitre
thyroid gland disease
An endocrine system disease that is located_in the thyroid.
echinostomiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.
Infection by Echinochasmus
obsolete Fetal Macrosomia
fetal macrosomia
obsolete metastatic tumor to the colon
dicrocoeliasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain.
disease due to Dicrocoeliidae
cholecystitis
A cholangitis that is characterized by an inflammation that is located in the gallbladder.
acute and chronic cholecystitis
acute cholecystitis
acute on chronic cholecystitis
chronic cholecystitis
descending colon cancer
Ca descending colon
malignant neoplasm of left colon
malignant tumor of descending colon
colon cancer
A colorectal cancer that is located_in the colon.
splenic flexure cancer
Ca splenic flexure - colon
malignant neoplasm of splenic flexure
malignant tumor of splenic flexure
sigmoid colon cancer
Ca sigmoid colon
malignant tumor of sigmoid colon
superficial keratitis
punctate epithelial keratoconjunctivitis
Punctate keratitis
Thygeson superficial punctate keratitis
Thygeson's superficial punctate keratitis
obsolete abdominal cancer
A cancer by anatomical entitiy that affects the organs in the abdominal cavity.
abdomen neoplasm
obsolete catatonic schizophrenia in remission
Catatonic schizophrenia in remission (disorder)
Catatonic type schizophrenia, in remission
dengue hemorrhagic fever
A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.
DHF
Dengue haemorrhagic fever
obsolete infiltrative lung tuberculosis
A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung.
obsolete Wuchereria bancrofti filariasis
A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis.
Bancroftian filariasis
Infection by Wuchereria bancrofti (disorder)
Infection due to Wuchereria bancrofti
Wuchereria bancrofti infectious disease
filarial elephantiasis
A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
Bancroftian elephantiasis
Bancroftian filarial chyluria
Lymphatic filariasis
elephantiasis of eyelid
oligohydramnios
A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
Oligohydramnios - delivered
antepartum oligohydramnios
delivered oligohydramnios
Lewy body dementia
A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.
Dementia with Lewy bodies
Diffuse Lewy body disease
Lewy body disease
Senile dementia of the Lewy body type
obsolete Synovial, tendon or bursa disorder
Synovial, tendon or bursa disorder NOS (disorder)
Unspecified disorder of synovium, tendon, and bursa
Not a disease
obsolete specific bursitis often of occupational origin
Specific bursitides often of occupational origin
obsolete calcium deposits in tendon and bursa
Plica syndrome
obsolete hearing disease
Auditory dysfunction (disorder)
Hearing disorder
Hearing disorder (finding)
Hearing problem (finding)
disorder of auditory system (disorder)
hearing disorder
obsolete secondary malignant neoplasm of large intestine and rectum
secondary malignant neoplasm of large intestine and rectum (disorder)
secondary malignant neoplasm of large intestine or rectum NOS (disorder)
cascade stomach
Hourglass stricture or stenosis of stomach
bile reflux
A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus.
anal margin squamous cell carcinoma
Perianal skin squamous cell carcinoma
anal margin carcinoma
An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus).
Perianal skin carcinoma
carcinoma of anal margin
obsolete histoplasmosis endocarditis
A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions.
Histoplasma capsulatum endocarditis
Histoplasma capsulatum with endocarditis (disorder)
Histoplasmosis with endocarditis (disorder)
histoplasmosis meningitis
Histoplasmosis with meningitis
obsolete hypoaldosteronism
Aldosterone deficiency (disorder)
hypoaldosteronism
obsolete Cushing's syndrome
An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.
testicular lymphoma
lymphoma of the testis
malignant lymphoma of testis
testicular cancer
A male reproductive system cancer that is located_in the testicles.
childhood neoplasm of the testis
neoplasm of testis
pediatric testicular neoplasm
testicular tumor
testis cancer
testis neoplasm
obsolete metastatic tumor to the testis
metastatic neoplasm to the testis
secondary malignant neoplasm of testis (disorder)
obsolete congenital adrenal hyperplasia
Congenital Adrenal hyperplasia
Congenital adrenal hyperplasia (disorder)
Congenital adrenal hyperplasia, NOS
obsolete adrenogenital disease
medulloadrenal hyperfunction
obsolete acquired factor IX deficiency
acquired factor IX deficiency disease (disorder)
hemophilia B
A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
Congenital factor IX deficiency
Congenital factor IX disorder
deficiency, functional factor IX
factor IX deficiency
chronic salpingo-oophoritis
chronic salpingitis and oophoritis
chronic salpingitis/oophoritis
obsolete eclampsia with delivery
obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium
agranulocytosis
A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood.
Granulocytopenic disorder
Granulopenia
granulocytopenia
coloboma
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
coloboma of eye
coloboma of macula
congenital ocular coloboma
iris disease
anisometropia
obsolete anisometropia and aniseikonia
Anisometropia and aniseikonia (disorder)
Anisometropia or aniseikonia NOS (disorder)
cutaneous diphtheria
A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin.
pyoderma
A dermatitis that is characterized by a pyogenic infection causing the formation of pus.
malignant tumor of undescended testis
malignant neoplasm of retained testis
malignant neoplasm of undescended testis
malignant tumor of retained testis
malignant tumour of retained testis
malignant tumour of undescended testis
obsolete paranoid type schizophrenia in remission
femoral vein thrombophlebitis
Phlebitis and thrombophlebitis of femoral vein
Thrombophlebitis of deep femoral vein
Thrombophlebitis of the femoral vein
obsolete maternal pyrexia in labor
testicular leukemia
Crimean-Congo hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
CHF Congo virus
Congo-Crimean Hemorrhagic Fever
Crimean hemorrhagic fever
paranoid schizophrenia
A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
Paranoid type schizophrenia
Paraphrenia - late
Paraphrenic schizophrenia
chronic paranoid schizophrenia
paranoid type schizophrenia subchronic state
obsolete recurrent malignant endocervical neoplasm
atypical depressive disorder
A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.
Atypical depression
Vogt-Koyanagi-Harada disease
An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
Harada's disease
Vogt-Koyanagi syndrome
uveomeningoencephalitic syndrome
intrahepatic gall duct cancer
Ca intrahepatic bile ducts
malignant neoplasm of intrahepatic bile ducts
malignant neoplasm of intrahepatic biliary passages
malignant neoplasm of intrahepatic gall duct
gallbladder cancer
A biliary tract cancer that is located_in the gallbladder.
gallbladder Ca
gallbladder neoplasm
localized malignant gallbladder neoplasm
malignant neoplasm of gallbladder
malignant tumor of the gallbladder
malignant tumour of gallbladder
tumor of the gallbladder
obsolete speckled lentiginous nevus
Naevus spilus
Speckled lentiginous naevus
nevus spilus (disorder)
obsolete diphtheritic membranous angina
A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils.
Faucial Diphtheria
Faucial diphtheria
Faucial diphtheria (disorder)
conjunctival pigmentation
Bloch-Sulzberger syndrome
Incontinentia pigmenti
Incontinentia pigmenti syndrome
vitiligo
An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
anterior corneal pigmentation
Anterior corneal pigmentations
Dubin-Johnson syndrome
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
Dubin Johnson syndrome
chronic idiopathic jaundice
bilirubin metabolic disorder
An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
hereditary hyperbilirubinemia
hyperbilirubinemia
hyperbilirubinaemia
urticaria pigmentosa
UP/MPCM
cutaneous mastocytosis
Due to nomenclature revisions chronic schizophrenia has been replaced by schizophrenia.
obsolete chronic schizophrenia
chronic Schizophrenia
chronic schizophrenia (disorder)
stromal corneal pigmentation
Stromal corneal pigmentations
obsolete paranoid type schizophrenia subchronic state with acute exacerbation
cough variant asthma
A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath.
obsolete transsexuality with homosexual history
Trans-sexualism with homosexual history
Transsexuality with homosexual history (disorder)
kyphoscoliotic heart disease
chronic pulmonary heart disease
Cor pulmonale
A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.
cardiopulmonary disease
pulmonary heart disease
marasmus
A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation.
Nutritional atrophy
Nutritional marasmus
transvestism
Dual-role transvestism
Fetishistic transvestism
Transvestic fetishism
cross dresser
fetishism
hematocele of tunica vaginalis testis
Hematocele
male hematocele
male genital organ stricture
Stricture of male genital organs
male genital organ vascular disease
vascular disorder of male genital organs
varicocele
Scrotal varices
pelvic varices
A varicose veins that is located_in the pelvis.
obsolete redundant prepuce and phimosis
retroperitoneal lymphoma
gender incongruence
A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as.
gender dysphoria
gender identify disorder
transsexualism
retroperitoneal sarcoma
A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
retroperitoneum carcinoma
carcinoma of Retroperitoneum
carcinoma of the retroperitoneum
obsolete hyperkinetic heart syndrome
hyperkinetic heart disease
primary eye hypotony
primary hypotony of eye
alcoholic hepatitis
acute alcoholic hepatitis
acute alcoholic liver disease
hepatitis
A liver disease that is characterized as an inflammation of the liver.
acute and subacute liver necrosis
acute hepatitis
acute/subac. necrosis of liver
animal hepatitis
chronic hepatitis
chronic persistent hepatitis
prostatocystitis
obsolete bacterial prostatitis
viral labyrinthitis
A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur.
Epidemic vertigo
labyrinthitis
An otitis interna which involves inflammation of the labyrinths.
patulous eustachian tube
A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.
eustachian tube disease
A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation.
endocrine exophthalmos
lateral displacement of eye
Lateral displacement of globe
Graves' disease
An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Grave's disease
Graves disease
exophthalmic goiter
Basedow's disease
thyrotoxic exophthalmos
intermittent proptosis
Intermittent exophthalmos
pulsating exophthalmos
malaria
A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
induced malaria
prolapse of urethra
A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening.
Urethrocele
bronchopneumonia
A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
Chest infection - bronchopneumonia
bronchial pneumonia
lobular pneumonia
juvenile spinal muscular atrophy
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
Kugelberg-Welander disease
SMA3
Spinal Muscular Atrophy Type 3
Type III Spinal Muscular Atrophy
obsolete predominant psychomotor disturbance
obsolete mixed disorder as reaction to stress
obsolete acute erythremia and erythroleukemia in remission
obsolete predominant disturbance of consciousness
complex partial epilepsy
Complex partial epileptic seizure
epilepsy, psychomotor
psychomotor epilepsy
dysentery
An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood.
Infectious diarrhea
shigellosis
A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
Shigella boydii infectious disease
Shigella flexneri infectious disease
Shigella gastroenteritis
Shigella sonnei infectious disease
bacillary dysentery
balantidiasis
A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath.
neurohypophyseal diabetes insipidus
A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
Pituitary diabetes insipidus
Vasopressin deficiency
vasopressin defective diabetes insipidus
obsolete acute erythremia and erythroleukemia
obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck
Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck
Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder)
Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder)
spastic entropion
entropion
obsolete entropion and trichiasis of eyelid
Entropion and trichiasis of eyelid (disorder)
Entropion or trichiasis of eyelid NOS (disorder)
pathological gambling
An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
Compulsive gambling
kleptomania
An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen.
Pathological stealing
intermittent explosive disorder
An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
explosive personality disorder
pyromania
An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
Pathological firesetting
firesetting behavior
tinea pedis
A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot.
Athlete's foot
Dermatophytosis of foot
ringworm of foot
obsolete tinea
A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin.
Dermatophytosis-tinea/ringworm
Microsporic tinea, NOS
luxation of globe
Luxation of eye
globe disease
An eye disease that involves the globe of the eye.
obsolete psychogenic dysmenorrhea
Psychogenic dysmenorrhea
Psychogenic dysmenorrhea (finding)
Psychogenic dysmenorrhoea
thyrocalcitonin secretion disease
disorder of thyrocalcitonin secretion
labia minora cancer
A vulva cancer that is located_in the labium minora.
malignant neoplasm of labia minora
malignant neoplasm of labium minus
malignant tumor of Labia Minora
skin cancer
An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
CA - skin cancer
malignant neoplasm of skin
melanoma and Non-melanoma skin cancer
cancer of skin
conjugate gaze palsy
Palsy of conjugate gaze
obsolete hematologic pregnancy complication
aplastic anemia
A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
normocytic anemia
An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.
ANEMIA NORMOCYTIC
Normocytic normochromic anemia
pancytopenia
An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
sulfhemoglobinemia
secondary hyperparathyroidism of renal origin
hyperparathyroidism due to renal insufficiency
secondary hyperparathyroidism
capillariasis
A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.
Capillaria infection
pes anserinus bursitis
A bursitis that is characterized by inflammation of the bursal sac beneath the pes anserinus, resulting in: medial knee pain.
pes anserinus tendinitis or bursitis
bursitis
A connective tissue disease that is characterized by the inflammation of bursae, small, fluid-filled sacs that cushion the bones, tendons and muscles near your joints.
ocular hyperemia
hyperEMIA eye
hyperemia of conjunctiva
obsolete Conjunctival vascular disorder and cysts
Conjunctival vascular disorder and cysts (disorder)
Vagus nerve disease
Vagus nerve disorder
disorder of pneumogastric [10th] nerve
disorder of vagal nerve
disorder of vagus nerve
glossopharyngeal nerve disease
A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla.
ninth cranial nerve disease
vagina leiomyoma
A vaginal benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyoma of vagina
Bell's palsy
A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).
Bell palsy
Bell's (facial) palsy
facial paralysis
Facial Palsy
obsolete simple type schizophrenia chronic state with acute exacerbation
tuberculous epididymitis
An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling.
retinal ischemia
An ischemia that is characterized by restriction in blood supply to the retina.
retinal perforation
Retinal break
Retinal dialysis
Retinal tear
retinal detachment
trichuriasis
A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
Infection by Trichuris trichura
Trichuriasis infection
Whipworm disease
trichuris trichiura infection
rectal prolapse
Procidentia, rectum
bagassosis
An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
sugar cane worker pneumonitis
plantar nerve lesion
Lesion of plantar nerve
mononeuritis of lower limb
obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome
Meralgia paraesthetica
Meralgia paresthetica
Meralgia paresthetica (disorder)
tarsal tunnel syndrome
common peroneal nerve lesion
tibial nerve palsy
obsolete Enoplea infectious disease
A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands.
enoplida infectious disease
hypermobility of coccyx
Coccygeal hypermobility syndrome
hypermobility of the coccyx
obsolete Chlamydia trachomatis pharyngitis
venereal disease of pharynx due to Chlamydia trachomatis
obsolete Chlamydia trachomatis proctitis
Chlamydial infection of anus and rectum (disorder)
Venereal disease of the anus and rectum due to Chlamydia trachomatis
trichostrongylosis
A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia.
Infection by Trichostrongylus
Infection by Trichostrongylus species
Trichostrongyliasis
trichostrongyloidiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.
obsolete catatonic type schizophrenia subchronic state
obsolete catatonic type schizophrenia subchronic state with acute exacerbation
obsolete catatonic type schizophrenia chronic state with acute exacerbation
atrophic nonflaccid tympanic membrane
hepatitis A
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Viral hepatitis, type A
Viral hepatitis A
hepatic coma
Hepatocerebral intoxication
hepatic encephalopathy
A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.
Portal-systemic encephalopathy
obsolete Escherichia coli septicemia
Septicemia due to E. Coli (disorder)
Septicemia due to escherichia coli
Septicemia due to escherichia coli [E. coli]
hemolytic-uremic syndrome
A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.
haemolytic-uraemic syndrome
hemolytic uremic syndrome
obsolete acute renal failure with lesion of renal cortical necrosis
acute kidney tubular necrosis
An acute kidney failure that is characterized by necrosis of epithelial tubule cells.
ATN - acute tubular necrosis
acute renal Failure with tubular necrosis
acute renal failure with lesion of tubular necrosis
acute tubular necrosis
acute tubule necrosis
idiopathic juvenile osteoporosis
An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
Idiopathic osteoporosis
juvenile osteoporosis
ulceration of vulva
A vulvar disease that is characterized by the presence of ulcers.
dyscalculia
A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
Mathematics disorder
disorder of arithmetical skills
obsolete Chagas cardiomyopathy
A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death.
Cardiovascular Trypanosomiasis
Chagas' cardiomyopathy
Chagas' disease cardiomyopathy
Chagas' disease with heart involvement
Chagas' disease with heart involvement (disorder)
acute chagas' disease with heart involvement
chronic chagas' disease with heart involvement
obsolete Transient hypertension of pregnancy
Transient hypertension of pregnancy, with delivery
antepartum transient hypertension of pregnancy
postpartum transient hypertension of pregnancy
phacolytic glaucoma
A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins.
phacogenic glaucoma
A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss.
neonatal thyrotoxicosis
thyrotoxicosis
A thyroid gland disease that is characterized by excess thyroid hormone.
urethral obstruction
Obstruction of urethra
Cri-Du-Chat syndrome
A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
5p deletion syndrome
5p partial monosomy syndrome
chromosome 5 short arm deletion syndrome
chromosome 5p deletion syndrome
olecranon bursitis
A bursitis that is characterized by an inflammation of the bursa, located at the tip of the elbow (olecranon process).
Bursitis of elbow
Bursitis of elbow region
Capped elbow
Elbow bursitis
Miner's elbow
Miners' elbow
Shoe boil
obsolete enthesopathy of elbow
velocardiofacial syndrome
A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
Shprintzen syndrome
VCF-Velocardiofacial syndrome
obsolete Diabetes mellitus of mother, with delivery
Diabetes mellitus during pregnancy - baby delivered (disorder)
parametritis
pelvic cellulitis
obsolete secondary malignant neoplasm of suprarenal gland
secondary malignant neoplasm of adrenal gland
secondary malignant neoplasm of adrenal gland (disorder)
obsolete metastasis to adrenals
metastatic tumor to the Adrenals
obsolete staphylococcal pneumonia
A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst.
Staphylococcus aureus pneumonia
pneumonia due to staphylococcus aureus
obsolete AIDS-related pelvic inflammatory disease
obsolete adrenal hemorrhage of fetus or newborn
obsolete gastrointestinal hemorrhage of fetus or newborn
obsolete cervicofacial actinomycosis
An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene.
Cervicofacial actinomycotic infection
Lumpy jaw
obsolete cerebral actinomycosis
An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess.
perineocele
A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse.
hypertrophic pyloric stenosis
A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
congenital hypertrophic pyloric stenosis
congenital or infantile stricture of pylorus
pyloric stenosis
gastric outlet obstruction
gastric outflow obstruction
displacement of cardia through esophageal hiatus
Congenital hiatus hernia
hiatus hernia
Diaphragmatic - hiatus -hernia
hiatal hernia
obsolete Congenital or acquired abnormality of vulva, with delivery
obsolete genitourinary cancer
An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs.
obsolete disorder of optic chiasm associated with inflammatory disorder
retrocochlear disease
cranial nerve disease
A neuropathy that is located_in one of the twelve cranial nerves.
Cranial nerve disorder
disorder of cranial nerve
tooth ankylosis
Ankylosis of teeth
Ankylosis of tooth
ankylosis
An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
teeth hard tissue disease
paracoccidioidomycosis
A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
Mucocutaneous-lymphangitic paracoccidioidomycosis
paracoccidioidal mycosis
blastomycosis
A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
Blastomyces Dermatitidis Infection
Blastomycotic infection
Chicago disease
Gilchrist's disease
Infection by Blastomyces dermatitidis
North American blastomycosis
binocular vision disease
simultaneous visual perception without fusion
abnormal retinal correspondence
obsolete fusion with defective stereopsis
Fusion with defective stereopsis (disorder)
nephrocalcinosis
pseudobulbar palsy
A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts.
pseudobulbar paralysis
vestibular neuronitis
A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.
Epidemic neurolabyrinthitis
Vestibular neuritis
mixed receptive-expressive language disorder
A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe.
communication disorder
A specific developmental disorder that involves specific developmental disorders of speech and language.
acoustic neuroma
Vestibular Neurilemmoma
Vestibular schwannoma
obsolete thyroid gland tuberculosis
tuberculosis of thyroid gland
obsolete hyperemesis gravidarum with metabolic disturbance
hyperemesis gravidarum with metabolic disturbance - delivered (disorder)
hyperemesis gravidarum with metabolic disturbance, antepartum
hyperemesis gravidarum with metabolic disturbance, delivered
locked-in syndrome
A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes.
Locked in syndrome
Locked-in state
gynecomastia
A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
hereditary hemorrhagic telangiectasia
A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Osler hemorrhagic telangiectasia syndrome
Osler-Weber-Rendu disease
Rendu-Osler-Weber disease
hyperprolactinemia
An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
Chiari-Frommel syndrome
Pregnancy-related A-G syndrome
hyperprolactinaemia
obsolete Rotator cuff shoulder syndrome and allied disorder
ataxia telangiectasia
An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
Boder-Sedgwick syndrome
Louis Bar syndrome
myoclonic cerebellar dyssynergia
Dyssynergia cerebellaris myoclonica
progressive cerebellar tremor
obsolete Histoplasma duboisii pneumonia
An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
pulmonary African histoplasmosis (disorder)
Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases.
black piedra
A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair.
obsolete medullary sponge kidney
Medullary Sponge kidney
Medullary sponge kidney (disorder)
Sponge kidney
Ellis-Van Creveld syndrome
A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
Chondroectodermal dysplasia
mesoectodermal dysplasia
obsolete infectious myositis
Infective Myositis
Infective myositis
Infective myositis (disorder)
newborn respiratory distress syndrome
A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
HMD - Hyaline membrane disease
Neonatal respiratory Distress syndrome
hyaline membrane disease
pulmonary hyaline membrane disease
pulmonary hypoperfusion syndrome of newborn
respiratory distress syndrome of newborn
chronic gonococcal salpingitis
A chronic salpingitis that is caused by gonorrhea.
Gonococcal salpingitis
chronic salpingitis
telangiectasis
telangiectasia
cerebral atherosclerosis
An atherosclerosis of the cerebral vasculature.
obsolete liver metastasis
malignant neoplasm of liver, specified as secondary
metastasis to liver
metastatic tumor to the Liver
secondary malignant neoplasm of liver (disorder)
obsolete lung carcinoma metastatic to the liver
obsolete breast arcinoma metastatic to the liver
obsolete retroverted incarcerated gravid uterus
Retroverted and incarcerated gravid uterus, delivered
Retroverted incarcerated gravid uterus - delivered
Retroverted incarcerated gravid uterus - delivered (disorder)
antepartum retroverted and incarcerated gravid uterus
postpartum retroverted and incarcerated gravid uterus
respiratory syncytial virus infectious disease
A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.
RSV
respiratory syncytial virus
pars planitis
Posterior cyclitis
chorioretinitis
retinochoroiditis
intermediate uveitis
chronic cyclitis
peripheral uveoretinitis
hypercementosis
Cementation hyperplasia
hernia of ovary and fallopian tube
A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall.
obsolete bronchial tuberculosis
A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways.
obsolete Pneumovirus infectious disease
A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions.
cyclosporiasis
A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.
coccidiosis
A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
intestinal coccidiosis
corneal staphyloma
lacrimal duct cancer
malignant neoplasm of lacrimal duct
malignant tumor of lacrimal duct
lacrimal system cancer
lacrimal system neoplasm
neoplasm of lacrimal system
tumor of the lacrimal system
obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid
malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder)
malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid
choroid cancer
Choroidal tumor
choroid neoplasm
malignant tumor of choroid
malignant tumor of the Choroid
neoplasm of choroid
uveal cancer
An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
Malignant neoplasm of uveal tract
Uveal tumor
malignant Uveal tumor
obsolete classic Kaposi's sarcoma
A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet.
Kaposi's sarcoma Classical type
obsolete peritonsillar abscess
A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.
Peritonsillar abscess
Peritonsillar abscess (disorder)
Quinsy
obsolete endemic African Kaposi's sarcoma
A Kaposi's sarcoma that is located_in black Africans.
obsolete recurrent Kaposi's sarcoma
A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes.
recurrent Multiple Hemorrhagic sarcoma
tolosa-hunt syndrome
cicatricial ectropion
ectropion
Ectropion of eyelid
Everted margin
migraine without aura
A migraine that is characterized by migraine headaches that are not accompanied by an aura.
common migraine
obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations
Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations
diabetic polyneuropathy
Diabetes mellitus with polyneuropathy
Polyneuropathy in diabetes
diabetic neuropathy
obsolete Posterior synechiae
Posterior synechiae (disorder)
Posterior synechiae of iris
hallucinogen abuse
A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.
mucopolysaccharidosis II
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Hunter syndrome
Hunter's syndrome
MPS II - Hunter syndrome
Mucopolysaccharidosis, MPS-II
deficiency of iduronate-2-sulphatase
obsolete vaginal soft tissue tumor
mucopolysaccharidosis VI
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
MPS VI - Maroteaux-Lamy syndrome
Maroteaux - Lamy syndrome
Maroteaux-Lamy syndrome
arylsulfatase B deficiency
deficiency of N-acetylgalactosamine-4-sulfatase
mucopolysaccharidosis type VII
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
MPS VII - Sly syndrome
Sly syndrome
beta-glucuronidase deficiency
deficiency of beta-glucuronidase
mucopolysaccharidosis VII
chronic lacrimal gland enlargement
chronic enlargement of lacrimal gland
dacryoadenitis
obsolete Clostridium difficile intestinal infectious disease
A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain.
intestinal infectious disease due to clostridium difficile
enterocele
A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall.
vaginal enterocele
quadriplegia
tetraplegia
senile entropion
Involutional entropion
thyroid crisis
Thyrotoxic crisis
obsolete secondary thyroid hyperplasia
obsolete thyrotoxicosis from ectopic thyroid nodule
Thyrotoxicosis from ectopic thyroid nodule NOS (disorder)
Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder)
Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm
Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder)
Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm
hyperthyroidism due to ectopic thyroid nodule (disorder)
thyrotoxicosis from ectopic thyroid nodule with crisis
thyrotoxicosis from ectopic thyroid nodule with no crisis
obsolete Ancylostoma ceylanicum ancylostomiasis
An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine.
Ancylostomiasis due to Ancylostoma ceylonicum (disorder)
Ancylostomiasis due to ancylostoma ceylanicum
ancylostomiasis
A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
Guillain-Barre syndrome
An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
Infectious neuronitis
Post-infectious polyneuritis
Postinfectious polyneuritis
acute infective polyneuritis
acute inflammatory demyelinating polyradiculopathy
acute postinfectious polyneuropathy
obsolete polyneuritis
Polyneuritis (disorder)
multiple peripheral neuritis
polyneuritis
autistic disorder
An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Kanner's syndrome
autism
autistic disorder of childhood onset
childhood autism
infantile autism
obsolete adhesions of drum head to incus
obsolete adhesions of drum head to promontorium
obsolete adhesions of drum head to stapes
retrocalcaneal bursitis
A bursitis that is characterized by an inflammation of the bursa, a fluid-filled sac that cushions the Achilles tendon where it attaches to the heel bone (calcaneus).
Achilles bursitis
Achilles bursitis or tendinitis
Capped hock
Haglund's deformity
Haglund's disease
bursitis of the heel
Huntington's disease
A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Huntington disease
Huntington's chorea
choreatic disease
A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.
chorea
hereditary chorea
obsolete non-neoplastic nevus of skin
Non-neoplastic nevus
Non-neoplastic nevus (disorder)
Non-neoplastic nevus NOS (disorder)
Non-neoplastic nevus of skin (disorder)
Non-neoplastic nevus of skin (disorder) [Ambiguous]
nevus, non-neoplastic
obsolete senile nevus
Senile naevus
Senile nevus
Senile nevus (disorder)
obsolete acrosyringeal nevus
Acrosyringeal nevus
Acrosyringeal nevus (disorder)
obsolete Pars plana exudative cyst
Exudative cyst of pars plana
Exudative cyst of pars plana (disorder)
obsolete idiopathic urticaria
Idiopathic urticaria (disorder)
hypochondriasis
A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.
Hypochondria
Hypochondriacal disorder
hypochondriacal neurosis
obsolete Chlamydophila psittaci pneumonia
An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum.
Ornithosis with pneumonia
Ornithosis with pneumonia (disorder)
louisiana pneumonia
Miller Fisher syndrome
A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
Fisher's syndrome
Miller-Fisher variant of Guillain-Barre syndrome
Sjogren's syndrome
An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
Sicca syndrome
Sjogren syndrome
xerodermosteosis
keratoconjunctivitis sicca
KCS
submandibular gland disease
benign lymphoepithelial lesion of salivary gland
Godwin tumor
Mikulicz disease
An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
IgG4-related dacryoadenitis and sialadenitis
Mikulicz's disease
necrotizing sialometaplasia
mucocele of salivary gland
Mucous retention cyst of salivary gland
Ranula
Salivary Cyst
Salivary gland mucocele
sialolithiasis
Salivary gland Stone
Sialolith
Stone of salivary gland or duct
obsolete sickle-cell/Hb-C disease with crisis
Sickle cell-hemoglobin C disease with crisis (disorder)
thromboangiitis obliterans
Buerger's disease
Presenile gangrene
Plasmodium ovale malaria
A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
Malariaby Plasmodium ovale
Ovale malaria
obsolete childhood schizophrenia
Schizophrenic syndrome of childhood NOS
childhood Schizophrenia
childhood schizophrenia
childhood schizophrenia NOS
childhood schizophrenia NOS (disorder)
obsolete acute undifferentiated schizophrenia
acute schizophrenic episode
acute schizophrenic episode (disorder)
acute schizophrenic episode, unspecified state
obsolete chronic undifferentiated schizophrenia
Unspecified schizophrenia, chronic state
chronic undifferentiated schizophrenia (disorder)
hypodermyiasis
A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful.
screw worm infectious disease
A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage.
obsolete nutritional cardiomyopathy
Nutritional and metabolic cardiomyopathies (disorder)
Nutritional and metabolic cardiomyopathy NOS
Nutritional and metabolic cardiomyopathy NOS (disorder)
endocardial fibroelastosis
An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.
Elastomyofibrosis
labia minora carcinoma
A vulva carcinoma that is located_in the labia minora.
Labia Minora cancer
carcinoma of labia minora
vulva carcinoma
A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Vulvar carcinoma
carcinoma of vulva
endomyocardial fibrosis
African endomyocardial fibrosis
Becker's disease
Endomyocardial sclerosis
obscure African cardiomyopathy
Kearns-Sayre syndrome
A chronic progressive external ophthalmoplegia characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and one or more of heart block, cerebellar ataxia, or a cerebrospinal fluid protein level above 100 mg/dl, that has_material_basis_in deletion of mitochondrial DNA. Onset is before 20 years of age.
KSS
alcoholic cardiomyopathy
Alcohol-induced heart muscle disease
Dilated cardiomyopathy secondary to alcohol
extrinsic cardiomyopathy
A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium.
obsolete secondary cardiomyopathy
secondary cardiomyopathy (disorder)
secondary cardiomyopathy NOS
secondary cardiomyopathy NOS (disorder)
secondary cardiomyopathy, unspecified
paralytic lagophthalmos
lagophthalmos
Poland syndrome
A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
Poland anomaly
Poland's syndactyly
subleukemic leukemia
A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal.
central nervous system leukemia
A leukemia located_in the central nervous system.
Leukemia of the CNS
central nervous system hematologic cancer
A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
CNS hematopoietic tumor
hematopoietic neoplasm of central nervous system
intrapelvic lymph node leukemic reticuloendotheliosis
Leukemic reticuloendotheliosis involving intrapelvic lymph nodes
Leukemic reticuloendotheliosis of intrapelvic lymph nodes
obsolete secondary malignant neoplasm of intrapelvic lymph node
metastasis to intrapelvic lymph node
secondary and unspecified malignant neoplasm of intrapelvic lymph nodes
secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder)
secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder)
secondary malignant neoplasm of intrapelvic lymph nodes (disorder)
Plasmodium vivax malaria
A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
Malaria by Plasmodium vivax
Vivax Malaria
obsolete transient disorder of initiating or maintaining sleep
vagus nerve neoplasm
Vagus nerve tumors
neoplasm of vagus nerve
obsolete functional disorder of polymorphonuclear neutrophils
Functional disorder of polymorphonuclear neutrophils (disorder)
leukostasis
leukopenia
A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
Leucopenia
conduct disorder
A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
acute dacryocystitis
Dacryocystitis - acute
dacryocystitis
An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge.
Phlegmonous dacryocystitis
obsolete female genitalia nevus
carotid stenosis
Carotid artery stenosis
Stenosis, carotid artery
carotid artery disease
disorder of carotid artery
subclavian steal syndrome
Subclavian artery stenosis
subclavian steal phenomenon
subclavian steal steno-occlusive disease
vertebrobasilar insufficiency
Vertebro-basilar insufficiency
Vertebrobasilar arterial insufficiency
Vertebrobasilar artery syndrome
transient cerebral ischemia
A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
TIA
TIA - Transient ischaemic attack
Transient cerebral ischaemia
Transient ischemic attacks
transient ischemic attack
intra-abdominal lymph node mast cell malignancy
Mast cell malignancy of intra-abdominal lymph nodes
malignant mast cell tumors involving intra-abdominal lymph nodes
mast cell neoplasm
A hematologic cancer that has_material_basis_in mast cells.
Mast cell Proliferative disease
mast cell tumor
mastocytoma
obsolete RNA virus infectious disease
A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material.
Hemorrhagic Fever
Mite-Born Hemorrhagic Fever
Mite-borne hemorrhagic fever (disorder)
Mosquito-borne haemorrhagic fever
Mosquito-borne hemorrhagic fever
Mosquito-borne hemorrhagic fever (disorder)
Rodent-borne hemorrhagic fever (disorder)
Unspecified viral haemorrhagic fever
Unspecified viral hemorrhagic fever (disorder)
Viral Hemorrhagic Fever
Viral hemorrhagic fever (disorder)
arbovirus hemorrhagic fever
hemorrhagic fever
mite-borne hemorrhagic fever
mosquito-borne hemorrhagic fever
rodent-borne hemorrhagic fever
tick-borne hemorrhagic fever
viral hemorrhagic fever
shipyard eye
EKC
Epidemic keratoconjunctivitis
obsolete cryptococcal gastroenteritis
A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain.
Cryptococcal Gastroenteritis
Cryptococcal gastroenteritis (disorder)
obsolete pulmonary cryptococcosis
A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing.
Cryptococcal Pneumonia
obsolete AIDS-related cryptococcosis
A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV.
obsolete sickle cell trait
Haemoglobin S trait
Hb-S trait
Sickle cell trait (disorder)
Sickle-cell trait
retinopathy of prematurity
Retrolental fibroplasia
premature retinopathy
lobomycosis
A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions.
Cutaneous lobomycosis
infection by Loboa loboi
Cutaneous blastomycosis
dermatomycosis
A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes.
transient global amnesia
An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
balanoposthitis
obsolete Trichomonas balanoposthitis
A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin.
Trichomonal balanoposthitis (disorder)
Trichomonal balanoposthitis [Ambiguous]
Trichomonas Balanoposthitis
trichomonal balanoposthitis
balanitis
relapsing fever
A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse.
louse-borne relapsing fever
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
Relapsing fever, louse-borne
tick-borne relapsing fever
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
Relapsing fever, tick-borne
soft tick relapsing fever
mechanical lagophthalmos
cicatricial lagophthalmos
obsolete syphilitic optic atrophy
Syphilitic optic atrophy (disorder)
persistent fetal circulation syndrome
Fetal circulation
Persistent fetal circulation
Persistent foetal circulation
congenital alveolar capillary dysplasia with misalignment of pulmonary veins
persistent foetal circulation syndrome
persistent pulmonary hypertension of the newborn
pulmonary hypertension
A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
acute sphenoidal sinusitis
A sphenoid sinusitis which lasts for less than 4 weeks.
Sphenoidal sinus -acute
obsolete Ancylostoma braziliense ancylostomiasis
An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions.
Ancylostomiasis due to Ancylostoma Braziliense
Ancylostomiasis due to Ancylostoma braziliense (disorder)
obsolete Ancylostoma duodenale ancylostomiasis
An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia.
Ancylostomiasis due to Ancylostoma Duodenale
Ancylostomiasis due to Ancylostoma duodenale (disorder)
obsolete AIDS dementia complex
A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.
AIDS Dementia
HIV associated cognitive and motor complex
HIV-associated dementia
acquired immune deficiency syndrome dementia complex
corpus luteum cyst
An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release.
ovarian cyst
An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary.
obsolete HIV encephalopathy
An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change.
AIDS Encephalopathy
Human immunodefiency virus encephalopathy
traumatic glaucoma
A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation.
Glaucoma associated with ocular trauma
obsolete moderate recurrent major depression
Major depressive disorder, recurrent episode, moderate degree
Moderate recurrent major depression (disorder)
recurrent depressive disorder, current episode moderate (disorder)
renal osteodystrophy
renal rickets
acquired hyperkeratosis
Keratoderma - acquired
Keratoderma, acquired
acquired keratoderma
tinea unguium
A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
Dermatophytic onychia
Dermatophytosis of nail
Onychomycosis due to dermatophyte
cellulitis and abscess of buttock
cellulitis and abscess of face
cellulitis and abscess of finger
cellulitis and abscess of finger and toe
cellulitis and abscess of gluteal region
cellulitis and abscess of trunk
cellulitis and abscess of upper arm and forearm
dermatophytic onychomycosis
cellulitis and abscess
obsolete abdominal actinomycosis
An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation.
obsolete cutaneous actinomycosis
An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules.
eumycotic mycetoma
A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
Madura foot
Maduromycosis, mycotic
Mycotic mycetoma
eumycetoma
maduromycosis
obsolete AIDS related complex
A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss.
AIDS-like syndrome
acquired immune deficiency syndrome (& [ARC])
Jaccoud's syndrome
An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity.
Jaccoud syndrome
hemangioma of subcutaneous tissue
Angioma of the Subcutaneous tissue
Subcutaneous haemangioma
Subcutaneous hemangioma
Lown-Ganong-Levine syndrome
A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.
atrial tachyarrhythmia with short PR interval
syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias
periventricular leukomalacia
encephalomalacia
A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system.
intracranial arterial disease
branch retinal artery occlusion
Arterial retinal branch occlusion
retinal arterial branch occlusion
retinal artery occlusion
vertebral artery insufficiency
Vertebral artery syndrome
Sneddon syndrome
An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.
Idiopathic livedo reticularis with systemic involvement
intracranial arteriosclerosis
arteriosclerosis
An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
Arteriosclerotic vascular disease
central retinal artery occlusion
A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
Moyamoya disease
A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
progressive intracranial arterial occlusion
intracranial vasospasm
bladder leiomyoma
A bladder benign neoplasm that derives_from smooth muscle cells.
leiomyoma of the urinary bladder
obsolete HIV-associated nephropathy
A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia.
AIDS nephropathy
AIDS-Related nephropathy
AIDS-associated nephropathy
bladder squamous papilloma
mechanical entropion
cicatricial entropion
paronychia
A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
Infected nailfold
Onychia and paronychia of finger
Onychia and paronychia of toe
fungal nail infection
paronychia inflammation
protein-deficiency anemia
A nutritional deficiency disease that is characterized by inadequate protein intake.
deficiency anemia
Anemia due to protein deficiency
protein-deficiency anaemia
redundant parent term[LS].
obsolete deficiency anemia
deficiency anemias
gonococcal spondylitis
severe pre-eclampsia
A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.
Severe pre-eclampsia, with delivery
antepartum severe pre-eclampsia
postpartum severe pre-eclampsia
severe preeclampsia
placental abruption
A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
abruptio placenta
abruptio placentae
obsolete HIV wasting syndrome
An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.
Human immunodeficiency virus infection wasting syndrome
AIDS wasting syndrome
HELLP syndrome
A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
hordeolum externum
A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll.
external stye
blepharitis
An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
exophthalmic ophthalmoplegia
ophthalmoplegia
Total ophthalmoplegia
extraocular muscle paralysis
eye movement paralysis
oculomotor paralysis
Werdnig-Hoffmann disease
A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
HMN (Hereditary motor Neuropathy) Proximal type I
SMA1
Spinal muscular atrophy 1
hereditary motor neuropathy proximal type I
infantile muscular atrophy
progressive muscular atrophy of infancy
acute proliferative glomerulonephritis
acute glomerulonephritis with lesion of proliferative glomerulonephritis
crescentic glomerulonephritis
obsolete wasting syndrome
Wasting disease
Wasting disease (context-dependent category)
Wasting disease (disorder)
Wasting disease, NOS
suppurative uveitis
A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically.
benign secondary hypertension
benign renovascular hypertension
A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis.
esophageal candidiasis
A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
Candida Esophagitis
Candidal esophagitis
Candidiasis of the esophagus
esophageal moniliasis
esophageal thrush
fungal esophagitis
acute cystitis
A cystitis characterized by a sudden onset or severe symptoms.
obsolete tuberculous lung fibrosis
A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred).
Tuberculous Fibrosis of lung
Tuberculous fibrosis of lung (disorder)
Tuberculous fibrosis of lung, unspecified examination
obsolete sensory disorder of eyelid
Sensory disorder of eyelid
Sensory disorder of eyelid (disorder)
scrotum squamous cell carcinoma
A squamous cell carcinoma that is located_in the scrotum.
Scrotal squamous cell carcinoma
scrotal carcinoma
carcinoma of scrotum
scrotum melanoma
melanoma of scrotum
scrotum neoplasm
Scrotal Ca
Scrotal tumor
malignant Scrotal neoplasm
malignant tumor of scrotum
malignant tumour of scrotum
neoplasm of scrotum
scrotum cancer
obsolete Bordetella pertussis pneumonia
A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing.
Pertussis pneumonia
Pneumonia in whooping cough
obsolete Aspergillus pneumonia
An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever.
Pneumonia in aspergillosis
allergic bronchopulmonary aspergillosis
An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.
pulmonary aspergillus disease
prepuce cancer
malignant neoplasm of foreskin
malignant tumor of foreskin
spermatic cord cancer
Spermatic cord Ca
malignant tumor of spermatic cord
malignant tumor of the Spermatic Cord
dissociated nystagmus
obsolete female genital tuberculosis
Tuberculosis of female genital organs
obsolete chronic erythremia in remission
esophageal diverticulosis
megaesophagus
gout
An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
Articular gout
Gouty arthropathy
gouty arthritis
central nervous system cancer
A nervous system cancer that is located_in the central nervous system.
CNS neoplasm
central nervous system tumor
central nervous system tumors
malignant neoplasm of central nervous system
malignant tumor of CNS
neoplasm of central nervous system
obsolete pulmonary congestion and hypostasis
pulmonary congestion and hypostasis (disorder)
pulmonary congestion and hypostasis NOS (disorder)
obsolete non-toxic nodular goiter
Non-toxic nodular Goiter
Non-toxic nodular goiter (disorder)
Non-toxic nodular goiter NOS (disorder)
Non-toxic nodular goitre
Nontoxic nodular goiter
Nontoxic nodular goiter NOS
Nontoxic nodular goitre NOS
Unspecified nontoxic nodular goiter
nontoxic goiter
Goiter, non-toxic
Goitre, non-toxic
Nodule-thyroid, non tox
Non-toxic goitre
Non-toxic simple goitre
lingual goiter
nodular goiter
Goiter, nodular
nodular goitre
endemic goiter
A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency.
Iodine-deficiency-related endemic goitre
simple goitre
substernal goiter
Retrosternal thyroid goiter
Retrosternal thyroid goitre
substernal goitre
obsolete secondary syphilitic iridocyclitis
Syphilitic iridocyclitis (secondary)
secondary syphilitic iridocyclitis (disorder)
nodular prostate
proliferative diabetic retinopathy
PDR
diabetic retinopathy
Retinal abnormality - diabetes-related
background diabetic retinopathy
Non proliferative diabetic retinopathy
Non-Proliferative Diabetic Retinopathy
right bundle branch block
Right bundle branch block with left posterior fascicular block
obsolete secondary malignant neoplasm of brain and spinal cord
secondary malignant neoplasm of brain and spinal cord (disorder)
secondary malignant neoplasm of brain or spinal cord NOS (disorder)
obsolete metastasis to skin
metastasis to skin
metastatic skin carcinoma
metastatic tumor to the skin
secondary malignant neoplasm of skin
secondary malignant neoplasm of skin (disorder)
secondary malignant neoplasm of skin NOS (disorder)
obsolete metastatic cancer to the breast
metastatic tumor to the breast
secondary malignant neoplasm of breast
secondary malignant neoplasm of female breast (disorder)
hole retinal cyst
Macular cyst or hole
Macular cyst, hole, or pseudohole of retina
Macular pseudohole retinal cyst
obsolete transsexuality with heterosexual history
Trans-sexualism with heterosexual history
Transsexuality with heterosexual history (disorder)
submucous uterine fibroid
An uterine fibroid that is located adjacent to the lining of the uterus.
Submucous leiomyoma of uterus
uterine fibroid
An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
Plexiform leiomyoma
UTERUS FIBROMA
leiomyoma of Corpus Uteri
uterine leiomyoma
obsolete introverted personality
oculoglandular tularemia
A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear.
retinal dystrophies primarily involving Bruch's membrane
retinal dystrophies primarily involving Bruch membrane
obsolete malignant neoplasm of trachea, bronchus and lung
malignant neoplasm of trachea, bronchus and lung (disorder)
malignant neoplasm of trachea, bronchus, and lung
obsolete Diffuse cholesteatosis of middle ear and mastoid
Haverhill fever
A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain.
Streptobacillary fever
Streptobacillary rat-bite fever
Streptobacillosis
internal pathological resorption
tooth resorption
Behcet's disease
An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.
Adamantiades-Behcet disease
Behcet syndrome
Behet's syndrome
triple symptom complex
Behcet's syndrome
mucocele of appendix
Appendicele Mucocele
pneumatosis cystoides intestinalis
bronchus cancer
A respiratory system cancer that is located_in the bronchus.
malignant neoplasm of bronchus and lung
malignant neoplasm of bronchus or lung
obsolete HIV enteropathy
A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12.
mesenteric vascular occlusion
obsolete jejunal disease
diverticulitis of colon
A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.
colonic diverticular disease
obsolete Histoplasma duboisii endocarditis
An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions.
Histoplasma duboisii with endocarditis (disorder)
typhoid fever
A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
Typhoid
obsolete hallucinatory state induced by drug
Drug-induced hallucinatory state
Drug-induced hallucinosis (disorder)
Drug-induced psychotic disorder with hallucinations
porphyria
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
Hematoporphyria
Porphyrinopathy
disorder of porphyrin and hem metabolism
disorder of porphyrin metabolism
hereditary coproporphyria
Coproporphyrinogen oxidase deficiency
hereditary coproporphyria porphyria
acute porphyria
A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
hepatic porphyria
erythropoietic protoporphyria
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
EPP
Protoporphyria
cutaneous porphyria
Erythropoietic porphyria
Klebsiella pneumonia
A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis.
Pneumonia due to Klebsiella pneumoniae
Pneumonia due to Klebsiella pneumoniae (disorder)
obsolete Escherichia coli pneumonia
A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages.
Pneumonia due to Escherichia coli (disorder)
Pneumonia due to escherichia coli
Pneumonia due to escherichia coli [E. coli]
pneumonia due to escherichia coli
obsolete enzootic pneumonia of calves
A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms.
Enzootic pneumonia of calves (disorder)
obsolete rickettsial pneumonia
A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema.
Rickettsial pneumonia (disorder)
Mycoplasma pneumoniae pneumonia
A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.
Mycoplasma pneumonia
Mycoplasmal pneumonia
Pneumonia due to Eaton's agent
Pneumonia due to Mycoplasma pneumoniae
Pneumonia due to Mycoplasma pneumoniae (disorder)
cold agglutinin positive pneumonia
obsolete Mycoplasma hyopneumoniae pneumonia
A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough.
mycoplasmal pneumonia of swine
obsolete Salmonella pneumonia
A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation.
Salmonella pneumonia (disorder)
Rift Valley fever
A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites.
intestinal tuberculosis
A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting.
tuberculosis of intestine
gastrointestinal tuberculosis
An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting.
Tuberculosis of gastrointestinal tract
Tuberculosis of intestines, peritoneum, and mesenteric glands
tuberculosis of intestines, peritoneum and mesenteric glands
obsolete enteroinvasive Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever.
Enteroinvasive Escherichia coli gastrointestinal tract infection
Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder)
intestinal infectious disease due to enteroinvasive E. coli
crater-like holes of optic disc
Crater-like optic disc holes
vaginal Mullerian papilloma
A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin.
vaginal Muellerian papilloma
Scheuermann's disease
An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
Juvenile osteochondritis of the spine
Juvenile osteochondrosis of Scheurermann
Juvenile osteochondrosis of spine
Scheuermann's kyphosis
Sherman's Disease
Scheuermann disease
obsolete anterior nasal diphtheria
A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy.
Anterior nasal diphtheria
Anterior nasal diphtheria (disorder)
diphtheritic cystitis
A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.
obsolete pseudomembranous diphtheritic conjunctivitis
A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane.
Conjunctival diphtheria
Conjunctival diphtheria (disorder)
Pseudomembranous Diphtheritic Conjunctivitis
obsolete diphtheritic myocarditis
A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae.
Diphtheritic myocarditis (disorder)
obsolete nasopharyngeal diphtheria
A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance.
Nasopharyngeal Diphtheria
Nasopharyngeal diphtheria (disorder)
diphtheritic peritonitis
A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.
peritonitis
A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
Retractile mesenteritis
acute generalized peritonitis
primary bacterial peritonitis
sclerosing mesenteritis
pancreatic mucinous ductal ectasia
obsolete relapsing pancreatitis
exocrine pancreatic insufficiency
A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.
EPI
obsolete lower limb lymph node mast cell malignancy
Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder)
malignant mast cell tumors involving lymph nodes of inguinal region and lower limb
obsolete Bunyaviridae infectious disease
A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors.
chronic follicular conjunctivitis
anatomical narrow angle borderline glaucoma
A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.
borderline glaucoma
A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.
Preglaucoma
diabetic cataract
A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.
Cataract - diabetic
toxic optic neuropathy
obsolete african horse sickness
A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue.
hypertrophy of tongue papillae
Tongue papillary hypertrophy
obsolete Toxoplasma hepatitis
A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice.
Hepatitis due to toxoplasmosis
Toxoplasma hepatitis (disorder)
congenital toxoplasmosis
A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
Toxoplasmosis - congen.
toxoplasmosis
A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
disseminated toxoplasmosis
obsolete Toxoplasma myocarditis
A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain.
Myocarditis due to acquired toxoplasmosis (disorder)
Myocarditis due to toxoplasmosis
Toxoplasma myocarditis (disorder)
obsolete Reoviridae infectious disease
A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses.
Reoviridae disease
disease due to Orthoreovirus
disease due to Reoviridae (disorder)
disease due to Reovirus (disorder)
parasitic conjunctivitis
obsolete Toxoplasma pneumonia
A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales.
Pneumonitis due to toxoplasmosis
Toxoplasma pneumonitis (disorder)
obsolete ocular toxoplasmosis
A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness.
Chorioretinitis due to toxoplasmosis
Conjunctivitis due to acquired toxoplasmosis (disorder)
Conjunctivitis due to toxoplasmosis
Ocular toxoplasmosis (disorder)
Toxoplasma chorioretinitis
Toxoplasma conjunctivitis
Toxoplasmosis chorioretinitis (disorder)
ocular toxoplasmosis
laryngeal cartilage cancer
malignant neoplasm of laryngeal cartilage
malignant neoplasm of laryngeal cartilages
malignant tumor of laryngeal cartilage
obsolete bluetongue
A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue.
Soremuzzle
obsolete gender identity disorder in children
Gender identity disorder of childhood (disorder)
pedophilia
Paedophilia
ego-dystonic sexual orientation
A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.
diffuse interstitial keratitis
senile ectropion
Involutional ectropion
chondromalacia patellae
A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage.
Chondromalacia of patella
softening of articular cartilage of patella
chondromalacia
A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint.
collagen disease
A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.
collagen disorder
obsolete Nairobi sheep disease
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration.
Nairobi sheep virus disease (disorder)
Nairobi sheep virus gastroenteritis
obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis
Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis
obsolete chronobiology disease
reading disorder
A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
Stiff-Person syndrome
A movement disease that is of unknown etiology characterized by progressive rigidity.
Stiff-man syndrome
stiff man syndrome
tinea profunda
A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.
Deep seated dermatophytosis
Granuloma trichophyticum
Majocchi's granuloma
tinea manuum
A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling.
Dermatophytosis of hand
Tinea manus
scrub typhus
A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.
Japanese river fever
Kedani fever
Scrub mite-borne typhus
Tsutsugamushi
Tsutsugamushi disease
Chigger-borne rickettsiosis
Chigger-borne typhus
Mite-borne rickettsiosis
Mite-borne typhus
Scrub (mite-borne) typhus
Tropical typhus
Tsutsugamushi fever
Typhus fever due to Rickettsia tsutsugamushi
alpha 1-antitrypsin deficiency
A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
AAT deficiency
fibrodysplasia ossificans progressiva
A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
Stone Man Syndrome
myositis ossificans progressiva
progressive myositis ossificans
progressive ossifying myositis
temporal arteritis
A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.
Horton's disease
giant cell arteritis
central nervous system vasculitis
A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.
obsolete congenital aortic insufficiency
Congenital aortic valve insufficiency (disorder)
Congenital aortic valve insufficiency NOS (disorder)
Congenital aortic valve insufficiency, unspecified (disorder)
Congenital bicuspid aortic valve insufficiency
Congenital insufficiency of aortic valve
Congenital insufficiency of aortic valve (disorder)
Kawasaki disease
A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.
Kawasaki's disease
MLNS
acute febrile MCLS
acute febrile mucocutaneous lymph node syndrome
mucocutaneous lymph node syndrome
obsolete acute pyelonephritis with lesion of renal medullary necrosis
glossitis
obsolete upper limb cancer
malignant neoplasm of upper limb
malignant neoplasm of upper limb NOS (disorder)
malignant neoplasm of upper limb, NOS
malignant tumor of upper limb (disorder)
labia majora carcinoma
A vulva carcinoma that is located_in the labia majora.
Labia Majora cancer
carcinoma of labia majora
pure red-cell aplasia
A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.
Red cell hypoplasia
primary red cell aplasia
pure red cell aplasia
obsolete atypical manic disorder
obsolete open angle with borderline glaucoma findings
blindness
An eye disease characterized by a lack or loss of vision.
vision impairment
vision loss
visual impairment
vaginal glandular tumor
A vaginal cancer that has_material_basis_in glandular tissue.
congenital hypoplastic anemia
An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life.
congenital aplastic anaemia
congenital aplastic anemia
congenital hypoplastic anaemia
Constitutional aplastic anaemia
angioid streaks
skin sarcoidosis
Cutaneous sarcoid
cutaneous sarcoidosis
uveoparotid fever
A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve.
Heerfordt's syndrome
cardiac sarcoidosis
A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.
pulmonary sarcoidosis
A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.
lung Sarcoidosis
hypercalcemic sarcoidosis
obsolete metastasis to pleura
metastatic tumor to the Pleura
secondary malignant neoplasm of pleura
secondary malignant neoplasm of pleura (disorder)
perforation of bile duct
obsolete congenital anemia
Congenital anemia
Congenital anemia (disorder)
obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder
Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder
alexia
An agnosia that is a loss of the ability to recognize text.
Aphemesthaesia
acquired dyslexia
neurogenic bowel
urethritis
Non-Gonococcal Urethritis
Nongonococcal urethritis
bejel
A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face.
Njovera
Nonvenereal endemic syphilis
glanders
A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
Farcy pipes
Infection due to Pseudomonas mallei
basilar artery occlusion
corneal argyrosis
Argentous corneal deposits
Argyrosis of cornea
posterior corneal pigmentation
Posterior corneal pigmentations
coccidioidomycosis
A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.
primary extrapulmonary coccidioidomycosis
scleritis
gonococcal bursitis
A bursitis that is characterized by an inflammation of a bursa caused by the Neisseria gonorrhoeae bacteria, resulting from gonorrhea that has spread to other parts of the body.
gonococcal synovitis
Gonococcal synovitis &/or tenosynovitis
Gonococcal synovitis and tenosynovitis
Gonococcal synovitis or tenosynovitis
synovitis
A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
obsolete secondary syphilitic hepatitis
A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions.
Hepatitis in secondary syphilis (disorder)
Syphilis of liver (disorder)
secondary syphilis of liver
secondary syphilis of liver (disorder)
secondary syphilitic hepatitis
urethral intrinsic sphincter deficiency
Intrinsic (urethral) sphincter deficiency [ISD]
obsolete primary genital syphilis
Genital syphilis
Genital syphilis (primary)
primary genital syphilis (disorder)
primary genital syphilis (disorder) [Ambiguous]
obsolete secondary cutaneous syphilis
secondary syphilis of skin and mucous membrane (disorder)
secondary syphilis of skin or mucous membranes
secondary syphilis of skin or mucus membranes NOS (disorder)
obsolete primary anal syphilis
A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum.
primary anal syphilis (disorder)
obsolete secondary syphilitic lymphadenitis
Adenopathy due to secondary syphilis
secondary syphilitic adenopathy (disorder)
secondary syphilitic lymphadenitis
central pterygium
A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula.
progressive peripheral pterygium
A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula.
supraglottis cancer
Ca larynx - supraglottis
malignant Supraglottic tumor
malignant neoplasm of extrinsic larynx
malignant neoplasm of supraglottis
malignant tumor of supraglottis
supraglottis
balanitis xerotica obliterans
A balantitis characterized by white plaques or patches on genitals.
Penile Lichen Sclerosus
obsolete paranoid type schizophrenia chronic state with acute exacerbation
thanatophoric dysplasia
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
Proteus syndrome
A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.
Wiedemann's syndrome
obsolete disorganized type schizophrenia chronic state
childhood disintegrative disease
A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
Disintegrative psychosis
Heller's syndrome
Symbiotic psychosis
active cochleovestibular Meniere's disease
Cochleovestibular active Mnire's disease
active Meniere's disease, cochleovestibular
active cochleovestibular Meniere disease
Meniere's disease
A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
Meniere disease
Mnire's vertigo
Otogenic vertigo
active vestibular Meniere's disease
Vestibular active Mnire's disease
active Meniere's disease, vestibular
active vestibular Meniere disease
active cochlear Meniere's disease
Cochlear active Mnire's disease
active Meniere's disease, cochlear
active cochlear Meniere disease
urethral syndrome
benign vaginal carcinosarcoma
A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
paranasal sinus benign neoplasm
neoplasm of accessory sinus
tumor of Accessory sinus
hairy tongue
Overgrowth of filiform papillae
Moebius syndrome
A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
Mobius syndrome
Moebius congenital oculofacial paralysis
Oromandibular-limb hypogenesis spectrum
facial nerve disease
A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve.
trigonitis
venous tributary occlusion of retina
Venous tributary (branch) occlusion of retina
Venous tributary branch occlusion of retina
retinal vascular occlusion
Retinal vasc. occlusion
obsolete stiffness of joint
nose disease
disorder of the nose
nasal disorder
neonatal infective mastitis
tetanus neonatorum
A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion.
neonatal tetanus
loiasis
A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.
obsolete candidal endocarditis
A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly.
Candidal endocarditis (disorder)
obsolete candidal otitis externa
A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis.
Candidal otitis externa (disorder)
Candidal: [otitis externa] or [otomycosis]
otomycosis in moniliasis
obsolete candidal enteritis
A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration.
gastrointestinal candidiasis (disorder)
intestinal moniliasis
purulent labyrinthitis
A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.
Suppurative labyrinthitis
bacterial labyrinthitis
acute suppurative labyrinthitis
obsolete intrapelvic lymph node mast cell malignancy
Mast cell malignancy of intrapelvic lymph nodes (disorder)
malignant mast cell tumors involving intrapelvic lymph nodes
cornea squamous cell carcinoma
Corneal Epidermoid carcinoma
cornea cancer
Corneal tumor
malignant Corneal tumor
malignant neoplasm of cornea
malignant tumor of cornea
neoplasm of cornea
low tension glaucoma
An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.
Normal tension glaucoma
secondary Parkinson disease
Symptomatic parkinsonism
disorder presenting primarily with parkinsonism
secondary parkinsonism
interval angle-closure glaucoma
A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
Angle-closure glaucoma, subacute
Intermittent angle-closure glaucoma
Prodromal angle closure glaucoma
primary angle-closure glaucoma
An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
primary Angle Closure Glaucoma
paranasal sinus lymphoma
Lymphoma of Accessory sinus
lymphoma of paranasal sinus
angle-closure glaucoma
A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
ACG - Angle-closure glaucoma
Angle Closure Glaucoma
Closed angle glaucoma
Narrow cleft glaucoma
primary open-angle glaucoma with narrow angles
obsolete gonococcal peritonitis
obsolete pharyngeal gonorrhea
Gonococcal infection of pharynx
Gonorrhea of pharynx (disorder)
gonococcal pharyngitis
obsolete gonococcal keratosis
Gonococcal blennorrhagica
Gonococcal keratosis (blennorrhagica)
Gonococcal keratosis (disorder)
obsolete gonococcal urethritis
Gonococcal Urethritis
Gonococcal urethritis (disorder)
obsolete lymphoma by site
subserous uterine fibroid
An uterine fibroid that is located adjacent to the outside of the uterus.
subserous leiomyoma of uterus
optic disk drusen
Drusen of optic disc
optic nerve head drusen
obsolete glaucoma associated with pupillary block
Glaucoma associated with pupillary block (disorder)
secondary angle-closure glaucoma with pupil block
neuroaspergillosis
An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.
tibial collateral ligament bursitis
enthesopathy
A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation.
maxillary sinus cancer
malignant neoplasm of antrum
malignant tumor of the maxillary sinus
obsolete schizo-affective type schizophrenia chronic state with acute exacerbation
cortical senile cataract
A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging.
non-renal secondary hyperparathyroidism
twin-to-twin transfusion syndrome
A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced.
Fetal blood loss from fetal hemorrhage into co-twin
Fetal hemorrhage into co-twin
Twin to twin transfusion
Twin-to-twin blood transfer
obsolete ascorbic acid deficiency
Ascorbic acid (vitamin C) deficiency
Ascorbic acid defic.
Ascorbic acid deficiency
Ascorbic acid deficiency (disorder)
deficiency of ascorbic acid (disorder)
deficiency of vitamin C
vitamin C deficiency
kwashiorkor
A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone.
Kwashiokor
Nutritional edema with dyspigmentation of skin and hair
Nutritional oedema with dyspigmentation of skin and/or hair
maxillary sinus benign neoplasm
neoplasm of maxillary sinus
tumor of Maxillofacial sinus
cholestasis
A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
Obstruction of bile duct
bile occlusion
obsolete magnesium deficiency
Magnesium deficiency
Magnesium deficiency (disorder)
magnesium deficiency
obsolete potassium deficiency
K deficiency
potassium deficiency
obsolete fetal nutrition disorder
disorder of fetal nutrition (disorder)
alveolar periostitis
Alveolitis of jaw
Dry socket
Dry tooth socket
periostitis
A connective tissue disease characterized by inflammation located_in the periosteum of the bone.
female infertility of uterine origin
A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year.
Infertility, female, of uterine origin
eclampsia
A pre-eclampsia characterized by the presence of seizures.
Eclampsia in puerperium
Eclampsia, postpartum
Postpartum eclampsia
vaginal carcinosarcoma
A vaginal carcinoma that has_material_basis_in connective tissue.
malignant vaginal mixed epithelial and mesenchymal tumor
vaginal malignant mixed Mullerian tumor
vaginal malignant mixed mesodermal (mullerian) tumor
vaginal mixed epithelial and mesenchymal tumor
frontal sinus cancer
malignant neoplasm of frontal sinus
malignant tumor of frontal sinus
malignant tumor of the Frontal sinus
obsolete enteropathogenic Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea.
Enteropathogenic Escherichia coli gastrointestinal tract infection
Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder)
intestinal infection due to enteropathogenic E. coli
obsolete acute schizophrenic episode subchronic state
obstructive jaundice
A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.
Cholestatic Jaundice
Cholestatic jaundice syndrome
Obstructive hyperbilirubinemia
obsolete acute schizophrenic episode chronic state with acute exacerbation
obsolete acute schizophrenic episode chronic state
biliary atresia
A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Atresia of bile duct
Congenital biliary atresia
biliary atresia, congenital
frontal sinus benign neoplasm
neoplasm of frontal sinus
tumor of the Frontal sinus
extrahepatic cholestasis
A cholestasis resulting from causes located_in bile ducts outside the liver.
extrahepatic biliary Stasis
extrahepatic obstructive biliary disease
paranasal sinus sarcoma
A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus.
sarcoma of Accessory sinus
patent foramen ovale
Atrial septal defect within oval fossa
Defect, Patent or persistent, ostium secundum
Ostium secundum type atrial septal defect
Persistent ostium secundum
foramen ovale patent
campylobacteriosis
A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever.
gastroenteritis
A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
cholera morbus
infectious colitis, enteritis and gastroenteritis
obsolete staphylococcal enterocolitis
A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea.
Staphylococcal enterocolitis (disorder)
intestinal infection due to staphylococcus
photokeratitis
favism
A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
glucosephosphate dehydrogenase deficiency
A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
Glucose-6-phosphate dehydrogenase deficiency
deficiency of G-6PD
dentine erosion
tooth erosion
generalized erosion
localized erosion
ethmoid sinus cancer
malignant neoplasm of ethmoidal sinus
malignant tumor of ethmoid sinus
malignant tumor of ethmoidal sinus
ethmoidal sinus benign neoplasm
neoplasm of ethmoidal sinus
tumor of ethmoidal sinus
exfoliation syndrome
A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
Pseudoexfoliation glaucoma
Pseudoexfoliation syndrome
obsolete pneumococcal septicemia
Pneumococcal septicemia (disorder)
Pneumococcal septicemia [Streptococcus pneumoniae septicemia]
Septicaemia due to streptococcus pneumoniae
Septicemia due to streptococcus pneumoniae (disorder)
Streptococcus pneumoniae septicemia
obsolete streptococcal septicemia
Streptococcal septicemia (disorder)
Streptococcal septicemia, unspecified (disorder)
obsolete paranoid state
polyneuropathy in collagen vascular disease
obsolete joint disorder
Joint disorder NOS, of ankle and foot (disorder)
Joint disorder NOS, of multiple sites
Joint disorder NOS, of multiple sites (disorder)
Joint disorder NOS, of shoulder region
Joint disorder NOS, of shoulder region (disorder)
Joint disorder NOS, of the forearm
Joint disorder NOS, of the forearm (disorder)
Joint disorder NOS, of the lower leg
Joint disorder NOS, of the lower leg (disorder)
Joint disorder NOS, of the pelvic region and thigh
Joint disorder NOS, of the pelvic region and thigh (disorder)
Joint disorder NOS, of the upper arm
Joint disorder NOS, of the upper arm (disorder)
Unspecified disorder of ankle and foot joint
Unspecified disorder of forearm joint
Unspecified disorder of joint of pelvic region and thigh
Unspecified disorder of joint of shoulder region
Unspecified disorder of lower leg joint
Unspecified disorder of upper arm joint
Unspecified joint disorder of multiple sites
eversion of lacrimal punctum
stenosis of lacrimal punctum
stenosis of lacrimal passage
Stenosis of lacrimal canaliculi
acquired tear duct stenosis
Stenosis of nasolacrimal duct, acquired
Tear duct - acquired stenosis
acquired nasolacrimal duct stenosis
acquired stenosis of nasolacrimal duct
gastrin secretion abnormality
infective urethral stricture
urethral stricture
obsolete acute suppurative otitis media with tympanic membrane intact
A purulent acute otitis media with no perforation of the tympanic membrane.
acute suppurative otitis media without spontaneous rupture of ear drum
acute suppurative otitis media without spontaneous rupture of ear drum (disorder)
obsolete meningococcal encephalitis
Meningococcal encephalitis (disorder)
obsolete hypocalcemia and hypomagnesemia of newborn
Hypocalcemia and/or hypomagnesemia of newborn (disorder)
posterior scleritis
SAPHO syndrome
A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.
Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
obsolete simple type schizophrenia subchronic state
obsolete simple type schizophrenia subchronic state with acute exacerbation
obsolete simple type schizophrenia in remission
obsolete simple type schizophrenia chronic state
chronic duodenal ileus
duodenal obstruction
prostate calculus
Prostatic lithiasis
Prostatic stone
Stone of prostate
calculus of prostate
acute gonococcal cystitis
An acute cystitis that is caused by gonorrhea.
Gonococcal cystitis
acute gonorrhea of bladder
dermoid cyst of skin
A dermoid cyst that is located_in the skin.
skin Dermoid
dermoid cyst
A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
Dermoid choristoma
Dermoid tumour
Mature cystic teratoma
cystic dermoid choristoma
teratoma, benign
obsolete disorder of ureter
Ureteric disease
disorder of ureter (disorder)
obsolete unilateral vesicoureteral reflux with reflux nephropathy
obsolete bilateral vesicoureteral reflux with reflux nephropathy
obsolete vesicoureteral reflux with reflux nephropathy
vaginal squamous papilloma
A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium.
squamous papilloma of vagina
obsolete postpartum benign essential hypertension
premature ejaculation
uterine corpus adenomatoid tumor
An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium.
uterine corpus adenomatoid tumour
uterine corpus localised epithelial Mesothelioma
uterine corpus localized epithelial Mesothelioma
dental fluorosis
A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
Intrinsic enamel discolouration of fluorosis
Mottled teeth
Mottling of enamel
anodontia
A tooth disease that is characterized by complete absence of permanent teeth.
Complete absence of teeth
Developmental absence of tooth
Total anodontia of permanent and deciduous teeth
mature cataract
A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging.
Total or mature cataract
Total, mature senile cataract
obsolete Schistosoma mattheei infectious disease
A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei.
Infection by Schistosoma Mattheii
Infection by Schistosoma mattheii (disorder)
neuroschistosomiasis
A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure.
obsolete Schistosoma bovis infectious disease
A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis.
Infection by Schistosoma Bovis
Infection by Schistosoma bovis (disorder)
scurvy
A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.
endometrial stromal nodule
An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
malignant renovascular hypertension
malignant secondary hypertension
panophthalmitis
obsolete AIDS-related Pneumocystis jirovecii pneumonia
A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV.
uterine inflammatory disease
A uterine disease that is characterized by inflammation.
Inflammatory disease of the uterus
hepatic infarction
infarct of liver
nutmeg liver
chronic passive congestion of liver
neurofibroma of spinal cord
spinal cord lipoma
A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.
Lipoma of spinal cord
central nervous system lipoma
A central nervous system benign neoplasm that derives_from fat cells.
Lipoma of the CNS
neonatal urinary tract infectious disease
urinary tract infection of newborn
obsolete Histoplasma duboisii meningitis
An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures.
Histoplasma duboisii with meningitis (disorder)
obsolete Histoplasma capsulatum meningitis
An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures.
Histoplasma capsulatum with meningitis (disorder)
obsolete Histoplasma duboisii pericarditis
An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough.
Histoplasma duboisii with pericarditis (disorder)
epiphora due to insufficient drainage
excessive tearing
Epiphora
Excessive tear production
Watering eye
obsolete perinatal infectious disease
Pthirus pubis infestation
A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
Infestation by Phthirus pubis
Pediculosis Pubis
Pediculus pubis
Phthiriasis pubis
Phthirus pubis
Phthirus/pediculus pubis - pubic lice - crabs
crabs
lice infestation
A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.
Infestation by Pediculus
Louse infestation
Pediculosis + lice
Pediculosis and phthirus infections
Pediculosis and phthirus infestation
mixed pediculosis
mixed pediculosis infestation
pediculosis
pediculosis and phthirus infection
obsolete bovine trypanosomiasis
A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss.
obsolete dourine
A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs.
Covering disease
Infection by Trypanosoma equiperdum (disorder)
clonorchiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.
Oriental liver fluke disease
cholangitis
A bile duct disease that is an inflammation of the bile duct.
opisthorchiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma.
Infection by Opisthorchis
Addison's disease
An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Addison disease
Addison disease, chronic adrenal insufficiency
HYPOADRENOCORTICISM, FAMILIAL
primary adrenocortical insufficiency
primary hypoadrenalism
plantar wart
A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.
Verruca plantaris
epidermodysplasia verruciformis
A primary immunodeficiency disease that is characterized by increased susceptibility to infection with specific human papillomavirus (HPV) genotypes, usually beta-HPV strains, and to the oncogenic potential of some of them, mainly HPV5 and HPV8. Affected individuals develop disseminated flat wart-like and pityriasis versicolor-like cutaneous lesions in childhood or adolescence. Associated with a high risk of carcinoma and has_symptom lesions on the body.
chancroid
A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers.
Ulcus molle, skin
obsolete uterine corpus mixed epithelial and mesenchymal tumor
hypermobility syndrome
benign joint hypermobility
localized anterior staphyloma
Anterior staphyloma, localised
Anterior staphyloma, localized
localised anterior staphyloma
equatorial staphyloma
staphyloma posticum
acute tympanitis
acute myringitis
myringitis bullosa hemorrhagica
A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.
Bullous myringitis
anterior scleritis
female breast central part cancer
A female breast cancer that is located_in the center of the breast.
malignant neoplasm of central part of female breast
malignant neoplasm of central portion of female breast
vaginal squamous tumor
A vaginal cancer that has_material_basis_in squamous tissue.
endometrial cancer
A uterine cancer that is located_in tissues lining the uterus.
endometrial Ca
endometrial neoplasm
malignant endometrial neoplasm
malignant neoplasm of endometrium
neoplasm of endometrium
primary malignant neoplasm of endometrium
tumor of Endometrium
inclusion conjunctivitis
A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.
Chlamydial conjunctivitis
Inclusion blennorrhoea
adult inclusion conjunctivitis
inclusion blenorrhea
Paratrachoma
pharyngoconjunctival fever
A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.
Adenoviral pharyngoconjunctivitis
pharyngo-conjunctival fever
familial combined hyperlipidemia
familial multiple lipoprotein-type hyperlipidemia
hyperbetalipoproteinemia with prebetalipoproteinemia
mixed hyperlipidaemia
type IIb hyperlipoproteinemia
Fox-Fordyce disease
A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.
Fox Fordyce disease
acanthosis nigricans
A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.
keratosis nigricans
chronic subinvolution of uterus
A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy.
adhesions of uterus
A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.
Band of uterus
Intrauterine adhesions
Intrauterine synechiae
hypoglossal nerve disease
A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve).
disorder of 12th nerve
disorder of XII nerve
disorder of hypoglossal [12th] nerve
disorder of hypoglossal nerve
obsolete single episode manic disease moderate degree
obsolete single episode manic disorder mild degree
lymphogranuloma venereum
A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
Climatic or tropical bubo
Durand-Nicolas-Favre disease
Lymphogranuloma inguinale
Poradenitis inguinale
Strumous bubo
granuloma inguinale
A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
donovanosis
pudendal ulcer
Ritter's disease
A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
Dermatitis exfoliativa neonatorum
Pemphigus neonatorum
Ritter disease
Scalded skin syndrome
Staphylococcal scalded skin syndrome
Toxic epidermal necrolysis, subcorneal type
obsolete congenital pneumonia
Congenital pneumonia (disorder)
Congenital pneumonia NOS (disorder)
tetanic cataract
A cataract resulting from hypocalcemia.
Hypocalcaemic cataract
parasitic eyelid infestation
Parasitic infestation of eyelid
squamous blepharitis
obsolete convergence excess or spasm
extrapyramidal and movement disease
obsolete Chlamydia trachomatis urethritis
Chlamydial infection of lower genitourinary tract (disorder)
Chlamydial urethritis (disorder)
NGU due to Chlamydia trachomatis
Nongonococcal urethritis due to Chlamydia trachomatis (disorder)
obsolete suppressed lactation - delivered
Suppressed lactation - delivered (disorder)
Suppressed lactation, with delivery, with or without mention of antepartum condition
obsolete suppressed lactation
obsolete acquired hallux varus
Hallux varus (acquired)
Hallux varus - acquired
acquired hallux varus (disorder)
abetalipoproteinemia
A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
familial hypobetalipoproteinemia
microsomal triglyceride transfer protein deficiency disease
scleroperikeratitis
A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
Scleritis with corneal involvement
acute closed-angle glaucoma
A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
acute angle-closure glaucoma
trochlear nerve disease
Superior oblique muscle innervation disorder
Trochlear nerve disorder
disorder of trochlear nerve
facial neuralgia
multiple cranial nerve palsy
Multiple cranial nerve palsies
focal labyrinthitis
A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.
Circumscribed labyrinthitis
hypoactive sexual desire disorder
Lack or loss of sexual desire
obsolete psychosexual dysfunction with male orgasmic disease
Tangier disease
A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
familial alpha-lipoprotein deficiency
familial high density lipoprotein deficiency
sick sinus syndrome
sinus node infection
obsolete residual chronic schizophrenia
Residual schizophrenia, chronic state
chronic residual schizophrenia (disorder)
bird fancier's lung
An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
Avian hypersensitivity Pneumonitis
Bird-fancier's lung
Bird-fanciers' lung
bird breeder's lung
bird fancier lung
pigeon breeder's lung
poultry worker's lung
squamous cell papilloma
Epidermoid papilloma
white piedra
A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft.
Tinea blanca
obsolete malignant pleural effusion
malignant Pleural Effusion
malignant pleural effusion
neoplastic pleural effusion (disorder)
red-green color blindness
Deutan defect
Deuteranopia
Reduced red-green discrimination
Norum disease
LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
lecithin acyltransferase deficiency
red color blindness
Protan defect
Protanopia
acquired color blindness
acquired color vision deficiencies
acquired color vision deficiency
acquired colour blindness
acquired colour vision deficiencies
acquired colour vision deficiency
lumbosacral plexus lesion
Lumbosacral plexus lesions
somatization disorder
A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.
Briquet's disorder
Somatisation disorder
Polysomatising disorder
irregular astigmatism
pseudopapilledema
bacterial esophagitis
eosinophilic esophagitis
An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
obsolete acute psychogenic paranoid psychosis
acute paranoid reaction
necrotizing ulcerative gingivitis
ANUG
Angina - Vincents
Vincent angina
Vincent's angina
Vincent's angina - pharyngitis
Vincent's disease
Vincent's infection, any site
acute necrotising ulcerative gingivitis
acute necrotising ulcerative gingivostomatitis
acute necrotizing ulcerative gingivitis
acute necrotizing ulcerative gingivostomatitis
acute ulceromembranous gingivitis
early acute necrotising gingivitis
trench mouth
gingivitis
acute gingivitis
chronic gingivitis
lacrimal duct obstruction
Blocked lacrimal canaliculus
Obstruction of lacrimal canaliculus
Obstruction of lacrimal ducts
amenorrhea
A female reproductive system disease that is characterized by the absence of menstruation.
absence of menstruation
amenia
urinary schistosomiasis
A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
Schistosoma Hematobium Infection
Schistosoma haematobium
Schistosoma hematobium infectious disease
Schistosomiasis due to schistosoma haematobium
Schistosomiasis of bladder
Vesical schistosomiasis
bladder Schistosomiasis
cystitis with bilharziasis
Schistosoma haematobium infection
benign paroxysmal positional vertigo
A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing.
benign paroxysmal positional nystagmus
benign recurrent vertigo
peripheral vertigo
A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance.
acute gonococcal salpingitis
Gonococcal salpingitis, specified as acute
acute gonococcal prostatitis
Gonococcal prostatitis
prostatitis
bladder neck obstruction
Obstruction of bladder neck or vesicourethral orifice
interstitial cystitis
ulcerative cystitis
uterine corpus epithelioid leiomyoma
An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures.
uterine corpus dissecting leiomyoma
A uterine fibroid that is characterized by the presence of intramural tearing.
obsolete mitotically active variant uterine corpus leiomyoma
uterus interstitial leiomyoma
An uterine fibroid that is located within the myometrium.
Intramural leiomyoma of uterus
uterine corpus myxoid leiomyoma
An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity.
uterine corpus lipoleiomyoma
An uterine fibroid that is characterized by the presence of adipocytes.
uterine corpus bizarre leiomyoma
An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells.
uterine Corpus Symplastic leiomyoma
obsolete peripheral focal retinitis and retinochoroiditis
Focal retinitis and retinochoroiditis, peripheral
peripheral focal retinitis AND retinochoroiditis (disorder)
nuclear senile cataract
A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging.
Senile nuclear cataract
Senile nuclear sclerosis
Morgagni cataract
A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging.
hypermature cataract
obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation
obsolete schizo-affective type schizophrenia chronic state
female breast lower-outer quadrant cancer
A female breast cancer that is located_in the lower-outer qudrant of the breast.
malignant neoplasm of lower-outer quadrant of female breast
obsolete metastatic tumor to the brain stem
metastatic tumor to the Brainstem
peptic esophagitis
Peptic reflux disease
Reflux oesophagitis
reflux esophagitis
obsolete primary pulmonary coccidioidomycosis
A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules.
chronic pulmonary coccidioidomycosis
desert fever
obsolete coccidioidal meningitis
A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus.
primary lacrimal atrophy
cleidocranial dysplasia
An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
Marie-Sainton Disease
cleidocranial dysostosis
obsolete secondary malignant neoplasm to the small Intestine
small intestine lymphoma
small intestinal Lymphoma
contact blepharoconjunctivitis
blepharoconjunctivitis
A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
rubeosis iridis
obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder
Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder
Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder
thoracic aortic aneurysm
An aortic aneurysm that is located_in the thoracic aorta.
aortic aneurysm
An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
ruptured aortic aneurysm
splenic artery aneurysm
alcoholic liver cirrhosis
Alcoholic Cirrhosis
Alcoholic cirrhosis of liver
Laennec's cirrhosis
Laennec's cirrhosis, alcoholic
Portal cirrhosis
Brucella canis brucellosis
A brucellosis involving an infection caused by Brucella canis in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly.
obsolete agalactia
Failure of lactation - delivered
Failure of lactation - delivered (disorder)
Failure of lactation, with delivery, with or without mention of antepartum condition
Tietze's syndrome
A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain.
Costalchondritis
Costochondral junction syndrome
Costochondritis
Slipping rib syndrome
Tietze's disease
Tietze syndrome
algoneurodystrophy
complex regional pain syndrome
Complex regional pain syndromes
folic acid deficiency anemia
A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines.
Folate deficiency anaemia
Folate deficiency anemia
Folate-deficiency anaemia
Folate-deficiency anemia
Folate-deficient megaloblastic anaemia
folic acid deficiency anaemia
malignant parietal pleura tumor
primary malignant neoplasm of parietal pleura
malignant visceral pleura tumor
primary malignant neoplasm of visceral pleura
aorta atresia
An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
Atresia and stenosis of aorta
Congenital atresia and stenosis of aorta
obsolete precocious puberty
(Sexual precocity NOS) or (puberty - precocious)
Precocious puberty
Precocious puberty (disorder)
Precocious sexual development (disorder)
Precocious true puberty
Premature puberty
Sexual precocity NOS
precocious puberty
POEMS syndrome
A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
residual stage angle-closure glaucoma
Residual stage of angle-closure glaucoma
obsolete endocrine tuberculosis
bipolar I disorder
A bipolar disorder that is characterized by at least one manic or mixed episode.
neonatal myasthenia gravis
myasthenia gravis
An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.
obsolete rheumatic pericarditis
acute Rheumatic Pericarditis
acute Rheumatic fever with pericarditis
acute rheumatic pericarditis
acute rheumatic pericarditis (disorder)
obsolete syndrome of infant of a diabetic mother
Infant of a diabetic mother syndrome
syndrome of infant of diabetic mother (disorder)
phaeohyphomycosis
A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals.
Infection by dematiacious fungi
phaehyphomycosis
obsolete rheumatic endocarditis
Endocarditis-RH chronic
Rheumatic disease of endocardium, valve unspecified
Rheumatic endocarditis (disorder)
Rheumatic endocarditis NOS
Rheumatic endocarditis NOS (disorder)
acute Rheumatic Endocarditis
acute rheumatic endocarditis
acute rheumatic endocarditis (disorder)
rheumatic endocarditis
paraurethral gland cancer
A female reproductive organ cancer that is located_in the paraurethral glands.
malignant tumor of paraurethral gland
malignant tumor of the Paraurethral gland
iritis
obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis
acute poststreptococcal glomerulonephritis
Post-Streptococcal Glomerulonephritis
acute diffuse nephritis
acute Diffuse Glomerulonephritis
diffuse glomerulonephritis
Plasmodium falciparum malaria
A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
Malaria fever, subtertian
falciparum malaria
malignant tertian fever
blackwater fever
A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
Black water fever
Hemoglobinuric, malaria
Malarial Hemoglobinuria
cerebral malaria
A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
Malarial encephalitis
anterior uveitis
vestibular nystagmus
Nystagmus associated with disorder of the vestibular system
obsolete neoplastic pregnancy complications
geniculate ganglionitis
glucocorticoid-remediable aldosteronism
A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
GRA
GRS
familial hyperaldosteronism type I
glucocorticoid-suppressible hyperaldosteronism
toxic labyrinthitis
A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.
epicondylitis
A bone inflammation disease that results_in inflammation located_in epicondyle.
Lateral epicondylitis
andrel epicondylitis
archer's elbow
golfer's elbow
hockey elbow
medial epicondylitis
shooter's elbow
tennis elbow
root caries
Cementum caries
Dental caries of root surface
obsolete heartwater disease
Heartwater (disorder)
renal artery atheroma
An atherosclerosis of the renal artery.
Atherosclerosis of renal artery
renal atherosclerosis
renal artery disease
renal vascular disease
vascular disorder of kidney
boutonneuse fever
A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
African tick typhus
Rickettsia conorii spotted fever
South African tick-bite fever
kenya tick typhus
marseilles fever
Boutonneuse disease
Conor and Bruch's disease
Kenya fever
Kenyan tick typhus
Mediterranean spotted fever
Mediterranean tick fever
infertility due to extratesticular cause
Infertility due to extratesticular causes
acquired gastric outlet stenosis
acquired hypertrophic pyloric stenosis
adult hypertrophic pyloric stenosis
De Quervain disease
Radial styloid tenosynovitis
Tenosynovitis, de Quervain's
obsolete syphilitic peritonitis
anus cancer
A large intestine cancer that is located_in the anus.
anal cancer
malignant anal tumor
median rhomboid glossitis
Persistent tuberculum impar
obsolete congenital adhesion of tongue
Congenital adhesions of tongue
Congenital adhesions of tongue (disorder)
adhesions,tongue-congenital
toxic shock syndrome
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.
TSS
toxic shock
multiple symmetric lipomatosis
LIPODYSTROPHY, CEPHALOTHORACIC
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
Launois-Bensaude's lipomatosis
Madelung's neck
cervical Symmetrical Lipomatosis
multiple symmetrical lipomatosis
obsolete group A hyperlipidemia
LDL hyperlipoproteinemia
Pure hypercholesterolaemia
Pure hypercholesterolemia
Pure hypercholesterolemia (disorder)
Pure hypercholesterolemia NOS (disorder)
hyperlipidemia, group A (disorder)
familial lipoprotein lipase deficiency
A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
Fredrickson type I hyperlipoproteinemia
Fredrickson type I lipaemia
familial LPL deficiency
familial hyperlipoproteinemia type I
hypercholesterinaemic xanthomatosis
hyperchylomicronemia
mixed hyperglyceridemia
bacteriuria
A urinary system disease which consists of the presence of bacteria in urine.
blue toe syndrome
cholesterol embolism
A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
atheroembolism
cholesterol crystal embolism
purple toe syndrome
trash foot
warfarin blue toe syndrome
abducens nerve neoplasm
VIth Cranial nerve tumors
neoplasm of abducens nerve
lateral cystocele
A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls.
midline cystocele
A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall.
Masters-Allen syndrome
A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery.
Broad ligament laceration syndrome
anus lymphoma
Lymphoma of anus
pulp erosion
malignant anus melanoma
anal melanoma
malignant melanoma of anus
ureterolithiasis
An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
Ureteric calculus
Ureteric stone
calculus of ureter
gyrate atrophy
Gyrate atrophy of the choroid and/or retina
Ornithinemia with gyrate atrophy
gyrate atrophy of the retina
spinal cord lymphoma
A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
Lymphoma of the Spinal Cord
spinal cord melanoma
melanoma of the Spinal Cord
spinal cord sarcoma
sarcoma of the Spinal Cord
acute retrobulbar neuritis
Retrobulbar neuritis
obsolete malnutrition of mild degree
obstructive hydrocephalus
A hydrocephalus characterized by cerebrospinal fluid obstruction in the ventricular system.
non-communicating hydrocephalus
noncommunicating hydrocephalus
obsolete metastatic malignant tumor to the anus
secondary malignant neoplasm of anus (disorder)
bilateral hyperactive labyrinth
hyperactive bilateral labyrinthine dysfunction
hyperactive labyrinth, bilateral
labyrinthine dysfunction
rheumatic congestive heart failure
Congestive rheumatic heart failure
Rheumatic heart failure
central neurocytoma
Neurolipocytoma
von Hippel-Lindau disease
Hippel Lindau syndrome
von Hippel-Lindau syndrome
hemangioblastoma
Capillary Hemangioblastoma
selective IgG deficiency disease
A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions.
Immunoglobin G subclass deficiency
Selective IgG Immunodeficiency
Selective Immunoglobulin G Subclass deficiency
Selective deficiency of IgG
Selective immunoglobulin G deficiency
congenital hypogammaglobulinemia
Congenital hypogammaglobulinaemia
obsolete immunodeficiency with increased IgM
X-linked agammaglobulinemia
An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
BTK deficiency
Bruton agammaglobulinemia tyrosine kinase deficiency
Bruton disease
Bruton's Sex-Linked Agammaglobulinemia
Bruton's agammaglobulinaemia
Bruton's type agammaglobulinemia
Bruton-type agammaglobulinemia
calcific tendinitis
obsolete metastatic tumor to the choroid
alcoholic neuropathy
Alcohol-related polyneuropathy
Alcoholic polyneuropathy
polyneuropathy due to drug
frozen shoulder
A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion.
Adhesive capsulitis of shoulder
adhesions-capsulitis,shoulder
obsolete residual schizophrenia subchronic state with acute exacerbation
obsolete shared paranoid disease
Induced psychotic disorder
Shared paranoid disorder
Shared psychotic disorder
obsolete simple paranoid state
Paranoid state, simple
bicipital tenosynovitis
tenosynovitis
An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon.
Inflammation of tendon sheath
posterior dislocation of lens
obsolete diplopia
Diplopia (disorder)
Double vision
diplopia
adult dermatomyositis
adult onset dermatomyositis
childhood type dermatomyositis
Juvenile dermatomyositis
childhood Dermatomyositis
obsolete hyperamylasemia
dihydropyrimidine dehydrogenase deficiency
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
Dihydrouracil Dehydrogenase deficiency
familial pyrimidinaemia
thymine-uracilurea
abdominal obesity-metabolic syndrome 1
An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
dysmetabolic syndrome X
metabolic syndrome X
ochronosis
A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
tracheal calcification
Calcification of trachea
acute frontal sinusitis
A frontal sinusitis which lasts for less than 4 weeks.
azoospermia
A male infertility disease characterized by the absence of any measurable level of sperm in semen.
oligospermia
A male fertility issue defined as a low sperm concentration in the ejaculate.
scleromalacia perforans
A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis.
orbital cyst
gastrointestinal tularemia
A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.
Enteric tularemia
intestinal tularaemia
chronic perichondritis of pinna
A perichondritis of auricle which is persistent and long-lasting.
chronic pinna perichondritis
perichondritis of auricle
An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.
Perichondritis and chondritis of pinna
Perichondritis of pinna
epiphora due to excess lacrimation
cystoid macular retinal degeneration
Cystoid macular degeneration of retina
chronic purulent otitis media
A suppurative otitis media which is persistent and long-lasting.
chronic suppurative otitis media
chronic atticoantral disease
A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.
chronic atticoantral suppurative otitis media
pyoureter
Ureter abscess
Down syndrome
A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
Complete trisomy 21 syndrome
Down's syndrome
Down's syndrome - trisomy 21
Downs syndrome
G Trisomy
trisomy 21 syndrome
vitreoretinal dystrophy
Vitreoretinal dystrophies
dystrophies primarily involving the retinal pigment epithelium
retinal dystrophy in systemic or cerebroretinal lipidoses
adult-onset Still's disease
A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.
adult onset Still's disease
adult-onset Still disease
rheumatoid arthritis
An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Arthritis or polyarthritis, rheumatic
atrophic Arthritis
obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb
Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb
Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder)
Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder)
fragile X syndrome
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
FRAGILE X MENTAL RETARDATION SYNDROME
MARKER X SYNDROME
MARTIN-BELL SYNDROME
oral candidiasis
A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
Candidiasis of mouth
Oral moniliasis
Thrush, oral
thrush
obsolete fits in newborn
Convulsions in newborn
Convulsions in the newborn (disorder)
Seizures in newborn
benign neonatal seizures
A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.
benign familial neonatal seizures
benign neonatal convulsions
Replacing outdated UMLS CUI.
pulmonary valve insufficiency
A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.
Pulmonic insufficiency
Pulmonic valve regurgitation
pulmonary incompetence
pulmonary incompetence, non-rheumatic
pulmonary insufficiency following trauma and surgery
pulmonary regurg.
pulmonary regurgitation
pulmonary valve disease
pulmonary valve disorder
suppurative cholangitis
obsolete disorder of pancreatic internal secretion
Unspecified disorder of pancreatic internal secretion
disorder of pancreatic internal secretion (disorder)
ascending cholangitis
acute cholangitis
pericholangitis
atrophic vulva
A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization.
Atrophy of vulva
shoulder impingement syndrome
Impingement syndrome of shoulder region
Subacromial impingement
obsolete arthropathy of the hand
Arthropathy NOS, of the hand (disorder)
Joint disorder NOS, of the hand (disorder)
Unspecified disorder of hand joint
primary hypertrophic osteoarthropathy
Pachydermoperiostosis of nail
Pachydermoperiostosis syndrome
patellofemoral pain syndrome
neurogenic arthropathy
Arthropathy associated with neurological disorder
Charcot's arthropathy
Neuropathic arthropathy
Charcot's joint
brawny scleritis
An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
Ebstein anomaly
A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
Ebstein's anomaly
Ebstein's anomaly of common atrioventricular valve
Ebstein's anomaly of right atrioventricular valve
Ebstein's anomaly of tricuspid valve
vulvar dystrophy
A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching.
Dystrophy of vulva
tuberculous empyema
A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula.
pleural empyema
A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
Empyema of pleura
Empyema of pleura without fistula
Empyema with no fistula
Empyema with pleural fistula
Empyema without mention of fistula
Empyema, chest
Pleural empyema with fistula
Purulent pleurisy
Thorax abscess
abscess of pleural cavity
abscess of thorax
empyema
empyema with fistula
lung empyema
pleural empyema with no fistula
purulent pleuritis
pyothorax
skin epithelioid hemangioma
Angiolymphoid Cutaneous hyperplasia
epithelioid hemangioma of skin
obsolete Norovirus gastroenteritis
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever.
calcivirus enteritis
norwalk virus enteritis
small round virus enteritis
obsolete nontoxic uninodular goiter
Non-toxic uninodular goiter (disorder)
Non-toxic uninodular goiter (disorder) [Ambiguous]
Non-toxic uninodular goitre
obsolete thyroid nodule
Nodule of the Thyroid gland
Thyroid nodule
Thyroid nodule (disorder)
pleuropneumonia
A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria.
generalized anxiety disorder
An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
Marfan syndrome
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Marfan's syndrome
Plasmodium malariae malaria
A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
Malaria by Plasmodium malariae
Quartan Malaria
mixed malaria
A malaria that involves infection with more than one species of Plasmodium at the same time.
Malaria fever by more than one parasite
malaria by more than one parasite
obsolete avian malaria
A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia.
Avian malaria (disorder)
obsolete gonococcal pericarditis
Gonococcal pericarditis (disorder)
postencephalitic Parkinson disease
postencephalitic parkinsonism
estrogen excess
An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen.
hyperestrogenism
obsolete Pseudomonal pneumonia
A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias.
Pneumonia due to Pseudomonas
Pneumonia due to Pseudomonas (disorder)
obsolete paraphrenia
Paraphrenia
Paraphrenia (disorder)
suppurative thyroiditis
Infectious thyroiditis
acute suppurative thyroiditis
Updating to more specific UMLS_CUI from C0029495 to C0040147.
thyroiditis
Riedel's fibrosing thyroiditis
Riedel fibrosing thyroiditis
acute thyroiditis
corneal ectasia
obsolete Opisthorchis viverrini infectious disease
A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
Infection by Opisthorchis viverrini (disorder)
Opisthorchis Viverrini Infection
obsolete congenital syphilitic meningitis
Congenital syphilitic meningitis (disorder)
systemic primary carnitine deficiency disease
An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
carnitine transporter deficiency
carnitine uptake defect
deficiency of plasma-membrane carnitine transporter
primary carnitine deficiency
renal carnitine transport defect
norwegian scabies
A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
Crusted scabies
scabies
A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.
Infestation by Sarcoptes scabiei
Infestation by Sarcoptes scabiei var hominis
Sarcoptic itch
pyuria
Pus cells in urine
thrombophlebitis migrans
A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.
protozoal dysentery
A dysentery that involves protozoan infection.
Machado-Joseph disease
An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
Azorean disease
MJD
SCA3
spinocerebellar ataxia 3
spinocerebellar ataxia type 3
capillary leak syndrome
A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.
obsolete cutis marmorata
Cutis Marmorata
Cutis marmorata (disorder)
critical illness polyneuropathy
labyrinthine bilateral reactive loss
Bilateral loss of labyrinthine reactivity
Loss of labyrinthine reactivity, bilateral
Legg-Calve-Perthes disease
An osteochondrosis that results_in death and fracture located_in hip joint.
Calve - Perthes' disease
Coxa plana
Juvenile osteochond-hip/pelvis
Juvenile osteochondrosis of hip and/or pelvis
Perthe's disease
Perthes disease
juvenile osteochondrosis of hip and pelvis
osteochondrosis of Legg-Calve-Perthes
pseudocoxalgia
Legg-Calve-Perthes symptom
dracunculiasis
A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
Dracontiasis
Infection by Dracunculus medinensis
obsolete Mansonella ozzardi infectious disease
A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease.
Filariasis ozzardi infection
Mansonella Ozzardi Infection
Ozzardian filariasis (disorder)
obsolete Alpers syndrome
obsolete Brugia malayi filariasis
A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection.
dipetalonemiasis
A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis.
Infection by Dipetalonema
Infection by Dipetalonema perstans
dipetalonema infectious disease
glossopharyngeal neuralgia
obsolete secondary malignant neoplasm of intra-abdominal lymph node
metastasis to intra-abdominal lymph node
secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes
secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder)
secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder)
secondary malignant neoplasm of intra-abdominal lymph nodes (disorder)
obsolete secondary malignant neoplasm of intrathoracic lymph node
metastasis to intrathoracic lymph node
secondary and unspecified malignant neoplasm of intrathoracic lymph nodes
secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder)
secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder)
secondary malignant neoplasm of intrathoracic lymph nodes (disorder)
abnormality of glucagon secretion
Glucagon secretion abnormality
obsolete enterohemorrhagic Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge.
Verotoxigenic Escherichia coli gastrointestinal tract infection
Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder)
intestinal infection due to enterohemorrhagic E. coli
obsolete enterotoxigenic Escherichia coli infectious disease
An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever.
Enterotoxigenic Escherichia coli gastrointestinal tract infection
Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder)
intestinal infection due to enterotoxigenic E. coli
chronic tubotympanic suppurative otitis media
A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.
cholinergic urticaria
A physical urticaria induced by sweating.
sclerosing keratitis
A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
Sclerokeratitis
chronic closed-angle glaucoma
A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
Anatomical narrow angle glaucoma
chronic angle-closure glaucoma
chronic narrow angle glaucoma
hyperkalemic periodic paralysis
familial hyperkalemic periodic paralysis
hypokalemic periodic paralysis
Hypokalemic familial periodic paralysis
Periodic paralysis I
Westphal disease
familial hypokalemic periodic paralysis
periodic hypokalemic paralysis
farmer's lung
An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.
Farmers lung
farmer lung
Brucella melitensis brucellosis
A brucellosis that involves an infection caused by Brucella melitensis in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain.
Brucella abortus brucellosis
A brucellosis that involves an infection caused by Brucella abortus in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia.
hemangioma of orbit
Angioma of the orbit
cavernous hemangioma of orbit
Cavernous Angioma of orbit
cavernous hemangioma
Cavernoma
Cavernous haemangioma
neuroleptic malignant syndrome
A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers.
obsolete drug-induced persisting amnestic disease
hantavirus pulmonary syndrome
A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
HPS
obsolete adenovirus pneumonia
An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells.
Pneumonia due to adenovirus
obsolete respiratory syncytial virus pneumonia
A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium.
Pneumonia due to respiratory syncytial virus (disorder)
obsolete parainfluenzal pneumonia
A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever.
Parainfluenza virus pneumonia (disorder)
obsolete SARS coronavirus pneumonia
A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure.
SARS-associated coronavirus pneumonia
obsolete Cytomegalovirus pneumonia
A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies.
Cytomegaloviral pneumonia (disorder)
pemphigoid gestationis
A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.
Gestational herpes
herpes gestationis
chorea gravidarum
sporotrichosis
A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.
ureteral lymphoma
lymphoma of ureter
obsolete metastasis to the ureter
metastatic neoplasm to the Ureter
secondary malignant neoplasm of ureter (disorder)
regional ureteric cancer
regional Ureteric carcinoma
regional malignant ureteral tumor
ureter carcinoma
An ureter cancer that is located_in the ureter.
ureteral carcinoma
obsolete metastatic neoplasm of ureter
Ureter metastatic malignant neoplasm
dumping syndrome
Dumping (jejunal) syndrome
Jejunal syndrome
postgastrectomy syndrome
Postgastric surgery syndrome
Wolman disease
A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
Acid esterase deficiency
Acid lipase deficiency
Wolman xanthomatosis
Wolman's disease
Wolman's or triglyceride storage type III disease
Xanthomatosis, familial
acute infantile lysosomal acid lipase deficiency
complete LAL deficiency
complete LIPA deficiency
complete cholesterol ester hydrolase deficiency
complete lysosomal acid lipase deficiency
lipoid proteinosis
Lipid proteinosis
URBACH-WIETHE DISEASE
Fabry disease
A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
Alpha-galactosidase A deficiency
Angiokeratoma Corporis Diffusum
Fabry Disease, Cardiac Variant
Fabry's disease
alpha galactosidase deficiency
deficiency of melibiase
obsolete papilledema associated with retinal disorder
fucosidosis
A-fucosidase deficiency
alpha fucosidase deficiency
Sjogren-Larsson syndrome
A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
FALDH deficiency
SLS
Sjogren Larsson syndrome
Sjogren-Larsson's syndrome
fatty acid alcohol oxidoreductase deficiency
cholesterol ester storage disease
A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.
CESD
partial LAL deficiency
partial LIPA deficiency
partial cholesterol ester hydrolase deficiency
partial lysosomal acid lipase deficiency
peripheral degeneration of cornea
peripheral degenerations of cornea
candidal paronychia
A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.
candidiasis of skin
candidiasis of skin and nails
WAGR syndrome
A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
11p partial monosomy syndrome
Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
chromosome 11p13 deletion syndrome
obsolete Idiopathic cysts of iris and ciliary body
obsolete adenovirus gastroenteritis
An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever.
Enteritis due to adenovirus
adenoviral enteritis
obsolete cutaneous breast cancer
cutaneous breast cancer
partial arterial retinal occlusion
Retinal partial arterial occlusion
partial retinal arterial occlusion
Argyll Robertson pupil
An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response.
Argyll Robertson phenomenon or pupil, nonsyphilitic
Argyll Robertson pupil, atypical
Atypical Argyll-Robertson pupil
senile degeneration of brain
Senile brain degen.
Reye syndrome
A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.
Reye's syndrome
external pathological resorption
atrophic glossitis
Atrophy of tongue papillae
Glossitis, Hunter's
Hunter's glossitis
smooth atrophic tongue
obsolete syringomyelia and syringobulbia
Syringomyelia and syringobulbia (disorder)
malignant cardiac peripheral nerve sheath neoplasm
MPNST of Heart
malignant peripheral nerve sheath tumor
malignant neoplasm of the peripheral nerve Sheath
malignant cardiac germ cell tumor
malignant cardiac germ cell tumour
malignant germ cell tumor of the Heart
malignant germ cell tumour of the Heart
obsolete metastasis to heart
metastatic tumor to the Heart
secondary malignant neoplasm of heart (disorder)
obsolete macular or paramacular focal retinitis and retinochoroiditis
rete testis adenocarcinoma
A rete testis neoplasm that derives_from epithelial cells of glandular origin.
adenocarcinoma of the rete testis
adenocarcinoma of rete testis
rete testis neoplasm
seminal vesicle adenocarcinoma
A male reproductive organ cancer that derives_from epithelial cells of glandular origin.
sphenoidal sinus cancer
malignant tumor of Sphenoidal sinus
malignant tumor of sphenoid sinus
sphenoid sinus squamous cell carcinoma
A squamous cell carcinoma that is located_in the sphenoid sinus.
Epidermoid carcinoma of the Sphenoidal sinus
steroid-induced glaucoma - borderline
Borderline glaucoma steroid responder
Steroid responders borderline glaucoma
obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear
Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear
Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder)
geographic tongue
An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
Glossitis areata exfoliativa
Pityriasis linguae
benign migratory glossitis
root resorption
Foster-Kennedy syndrome
papilledema
primary pulmonary hypertension
A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.
Idiopathic pulmonary arterial hypertension
obsolete nontoxic multinodular goiter
Non-toxic multinodular goiter (disorder)
Non-toxic multinodular goitre
anaerobic meningitis
postsurgical hypothyroidism
Post-surgical hypothyroidism
Postoperative hypothyroidism
atheroembolism of kidney
obsolete Salmonella septicemia
Salmonella septicemia (disorder)
obsolete Salmonella infectious disease
localized Salmonella infectious disease
acrodysostosis
A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
serous labyrinthitis
A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
acute serous labyrinthitis
hypertelorism, microtia, facial clefting syndrome
A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Bixler Christian Gorlin syndrome
Bixler syndrome
Bixler-Christian-Gorlin syndrome
HMC syndrome
Hypertelorism-Microtia-Clefting Syndrome
Hypertelorism-microtia-facial clefting syndrome
multiple intestinal atresia
An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21.
GIDID
Multiple gastrointestinal atresias
familial intestinal polyatresia syndrome
gastrointestinal defects and immunodeficiency syndrome
obsolete congenital contricting bands
otitis interna
An inner ear disease which involves inflammation of the inner ear.
inner ear infection
obsolete hereditary inflammatory vasculitis
VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES
Silver-Russell syndrome
A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
Silver Russell Dwarfism
Binder syndrome
binder type maxillonasal dysplasia
diastrophic dysplasia
An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
obsolete single major depressive episode in full remission
Major depressive disorder, single episode in full remission
Single major depressive episode, in full remission (disorder)
Smith-Lemli-Opitz syndrome
Rutledge lethal multiple congenital anomaly syndrome
Smith-Opitz-Inborn syndrome
Clouston syndrome
An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.
Clouston's hidrotic ectodermal dysplasia
Clouston's syndrome
Hidrotic ectodermal dysplasia syndrome
ectodermal dysplasia 2, Clouston type
hidrotic ectodermal dysplasia
Johanson-Blizzard syndrome
A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.
JBS
galactokinase deficiency
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Galactosemia II
thrombocytopenia-absent radius syndrome
A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
Radial aplasia-thrombocytopenia syndrome
Thrombocytopenia with absent radii (TAR) syndrome
major depressive disorder
A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.
clinical depression
major depression
recurrent major depression
single major depressive episode
unipolar depression
propionic acidemia
An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
GLYCINEMIA, KETOTIC
KETOTIC HYPERGLYCINEMIA
ketotic II glycinemia
ketotic glycinemia
propionic aciduria
propionyl-CoA carboxylase deficiency
Pfeiffer syndrome
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
acrocephalosyndactylia type V
FG syndrome
A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
Keller syndrome
Opitz-Kaveggia syndrome
congenital structural myopathy
A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
Ehlers-Danlos syndrome classic type 1
An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
Ehlers-Danlos syndrome, type 1
type I Ehlers-Danlos syndrome
beta-ketothiolase deficiency
An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.
2-methyl-3-hydroxybutyricacidemia
3-ketothiolase deficiency
3-oxothiolase deficiency
Mitochondrial acetoacetyl-CoA Thiolase deficiency
alpha-methylacetoaceticaciduria
peroxisomal thiolase deficiency
autosomal dominant microcephaly
A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene.
obsolete dominant cogenital severe sensorineural deafness
Weaver syndrome
A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.
WEAVER-LIKE SYNDROME
Weaver-Williams syndrome
craniofrontonasal syndrome
A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.
CFND
CFNS
craniofrontonasal dysostosis
craniofrontonasal dysplasia
obsolete progressive high-tone neural deafness
trichorhinophalangeal syndrome type I
A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
trichorhinophalangeal syndrome type 1
type I trichorhinophalangeal syndrome
Trichorhinophalangeal dysplasia type I
Partington syndrome
A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
X-linked Russell-Silver syndrome
lymphangioma
A benign vascular tumor that is composed of dilated lymphatic channels.
Congenital lymphangioma
benign lymphangioma
benign vascular tumor
isovaleric acidemia
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Isovaleryl-CoA dehydrogenase deficiency
isovaleric acid CoA dehydrogenase deficiency
isovaleric aciduria
argininosuccinic aciduria
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Argininosuccinate lyase deficiency
argininosuccinic acidemia
arginosuccinase deficiency
deficiency of argininosuccinate lyase
vascular type Ehlers-Danlos syndrome
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type IV
autosomal dominant type IV Ehlers-Danlos syndrome
Ehlers-Danlos syndrome hypermobility type
An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
Ehlers-Danlos syndrome, type 3
type III Ehlers-Danlos syndrome
autosomal recessive type IV Ehlers-Danlos syndrome
An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Ehlers-Danlos syndrome, recessive type 4
Greig cephalopolysyndactyly syndrome
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
polysyndactyly with peculiars skull shape
calcaneonavicular coalition
A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
Multiple synostosis syndrome
SYNOSTOSES, TARSAL, CARPAL AND DIGITAL
Larsen syndrome
A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.
dominant larsen syndrome
Saethre-Chotzen syndrome
An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
acrocephalosyndactyly type III
cartilage-hair hypoplasia
An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.
CHH
McKusick type metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
brittle cornea syndrome 1
An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
type VIB Ehlers-Danlos syndrome
benign familial neonatal epilepsy
familial neonatal seizures
blepharophimosis, ptosis, and epicanthus inversus syndrome
A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3.
Blepharophimosis, ptosis, epicanthus inversus syndrome
KBG syndrome
A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
olivopontocerebellar atrophy
A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
Dejerine-Thomas syndrome
Thomas' syndrome
WADIA-SWAMI SYNDROME
obsolete Fryns syndrome
spondyloepiphyseal dysplasia congenita
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Late Spondyloepiphyseal Dysplasia
Dubowitz syndrome
A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
Dubowitz's syndrome
Blount's disease
An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.
Blount disease
familial infantile type osteochondrosis deformans tibiae
periodontal disease
A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
disease of supporting structures of teeth
periodontium disorder
cystic fibrosis
A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
mucoviscidosis
obsolete secondary syphilitic chorioretinitis
Syphilitic chorioretinitis (secondary)
secondary syphilitic chorioretinitis (disorder)
obsolete secondary syphilitic uveitis
Syphilitic uveitis unspecified (disorder)
Syphilitic uveitis, unspecified
Uveitis due to secondary syphilis
Uveitis due to secondary syphilis (disorder)
secondary syphilitic uveitis (disorder)
secondary syphilitic uveitis NOS (disorder)
obsolete corneal anesthesia and hypoesthesia
obsolete eye and adnexa disease
A sensory system disease that is located_in the eye or the adnexa of the eye.
cystic echinococcosis
An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
Echinococcus granulosus infection
Echinococcus granulosus infection of lung
Echinococcus granulosus infection of thyroid
Liver echinococcus granulosus
Thyroid echinococcus granulosus
echinococcus granulosus
echinococcus granulosus infectious disease
echinococcus granulosus infectious disease of liver
echinococcus granulosus infectious disease of thyroid
lung echinococcus granulosus
unilocular echinococcosis
unilocular hydatid disease
cholera
A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
Cholera - Vibrio cholerae
Cholera due to Vibrio cholerae
Vibrio cholerae
obsolete Vibrio infectious disease
Infection due to non-cholerae vibrio
vibriosis
avoidant personality disorder
A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
anxious personality disorder
obsolete residual schizophrenia chronic state with acute exacerbation
chronic gonorrhea of cervix
A chronic cervicitis that is caused by gonorrhea.
Gonococcal cervicitis, chronic
chronic gonococcal cervicitis
chronic cervicitis
A cervicitis that is present for weeks or more.
obsolete mitral valve syphilitic endocarditis
Syphilitic endocarditis of mitral valve (disorder)
obsolete syphilitic endocarditis
Syphilitic endocarditis (disorder)
cecal disease
An intestinal disease located_in the cecum.
disorder of cecum
cecum carcinoma
A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Caecum carcinoma
Cecal cancer
carcinoma of cecum
cecum cancer
A large intestine cancer that is located_in the cecum.
malignant neoplasm of caecum
malignant tumor of the cecum
cecum lymphoma
Cecal Lymphoma
colon lymphoma
Colonic Lymphoma
nodular nonsuppurative panniculitis
Relapsing febrile nodular nonsuppurative panniculitis
Weber - Christian disease
Weber-Christian disease
nodular non-suppurative febrile panniculitis
obsolete penile non-neoplastic disease
obsolete fibroepithelial neoplasm
A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue.
Fibroepithelial neoplasm (morphologic abnormality)
Fibroepithelial neoplasm NOS (morphologic abnormality)
Fibroepithelial tumor
Fibroepithelial tumor (qualifier value)
obsolete male non-neoplastic reproductive system disease
mixed cell type cancer
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
malignant mixed cancer
malignant mixed neoplasm
mixed tumor
mixed tumor, malignant
malignant mixed tumor
mixed neoplasm
parathyroid carcinoma
An endocrine gland cancer located_in the parathyroid glands located in the neck.
Parathyroid gland neoplasm
carcinoma of Parathyroid gland
malignant neoplasm of parathyroid gland
malignant neoplasm of the Parathyroid
malignant tumor of parathyroid gland
neoplasm of parathyroid gland
parathyroid gland cancer
parathyroid neoplasm
parathyroid gland adenocarcinoma
endocrine gland cancer
An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
Endocrine tumor
endocrine neoplasm
malignant Endocrine tumor
malignant neoplasm of endocrine gland
malignant tumour of endocrine gland
neoplasm of endocrine gland
neoplasm of endocrine system
head and neck carcinoma
A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
carcinoma of the neck
carcinoma of neck
obsolete metastatic neoplasm of parathyroid
metastatic tumor of Parathyroid
obsolete glandular and epithelial neoplasm
obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium
Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder)
Diabetes mellitus, postpartum
vibratory urticaria
A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13.
arthus reaction
A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.
Arthus phenomenon
Arthus type urticaria
hypersensitivity reaction type III disease
A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.
immune complex disease
chromoblastomycosis
A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
Chromomycosis
Mossy foot disease
obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis
calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction
mechanical ectropion
obsolete epithelial carcinoma
A carcinoma that derives_from the cells that line an organ.
epithelial skin tumor
epithelial tumor (qualifier value)
skin Epithelium tumor
tumor of surface epithelium (disorder)
epithelial neoplasm
spastic ectropion
communicating hydrocephalus
A hydrocephalus characterized by cerebrospinal fluid flow without obstruction in the ventricular system.
alcohol use disorder
A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
Ethanol abuse
alcohol abuse
rheumatic disease
A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
limited scleroderma
Limited cutaneous systemic sclerosis
systemic sclerosis, limited
systemic scleroderma
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Scleroderma
Scleroderma syndrome
progressive systemic sclerosis
systemic sclerosis
pulmonary systemic sclerosis
lung disease with systemic sclerosis
lung involvement in systemic sclerosis
diffuse scleroderma
diffuse systemic sclerosis
systemic sclerosis, diffuse
laryngeal tuberculosis
A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
acute chest syndrome
A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
acute chest syndrome in sickle cell disease
obsolete rheumatic pneumonia
Rheumatic pneumonia (disorder)
rheumatic fever
A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
ACUTE RHEUMATIC FEVER
RhF - Rheumatic fever
thrombocytopenia due to platelet alloimmunization
Auto-immune thrombocytopenia
Immune thrombocytopenia
Thrombocytopenia Due to Immune Destruction
obsolete mesothelial neoplasm
Mesothelial neoplasm (morphologic abnormality)
Mesothelial neoplasm NOS (morphologic abnormality)
Mesothelial tumor
Mesothelial tumor morphology (qualifier value)
renovascular hypertension
obsolete secondary malignant neoplasm of retroperitoneum and peritoneum
secondary malignant neoplasm of retroperitoneum and peritoneum (disorder)
secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder)
obsolete metastasis to the peritoneum
metastatic neoplasm to the Peritoneum
secondary malignant neoplasm of the peritoneum (disorder)
melancholic depression
A major depressive disorder characterized by near-complete absence of pleasure.
endogenous depression
major depressive disorder with melancholic features
melancholia
obsolete single episode mild major depression
Major depressive disorder, single episode, mild degree
Mild major depression, single episode (disorder)
Single major depressive episode, mild (disorder)
obsolete single episode moderate major depression
Major depressive disorder, single episode, moderate degree
Moderate major depression, single episode (disorder)
Single major depressive episode, moderate (disorder)
hypoglycemic coma
A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma.
male breast cancer
A breast cancer that occurs in males.
malignant neoplasm of male breast
neoplasm of male breast
benign eccrine breast spiradenoma
A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit).
breast fibroadenoma
A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Complex Fibroadenoma of breast
Fibroadenoma of breast
Juvenile fibroadenoma
cellular Fibroadenoma
fibroadenoma
juvenile fibroadenoma of breast
obsolete breast fibroepithelial tumor
breast leiomyoma
A breast benign neoplasm that has_material_basis_in smooth muscle cells.
obsolete breast soft tissue tumor
breast adenoma
A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
Ademoma - breast
breast duct papilloma
An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue.
duct papilloma of breast
papilloma of the breast
intraductal papillary breast neoplasm
An intraductal breast benign neoplasm that is characterized by fingerlike growth projections.
intraductal papilloma
ductal papilloma
intraductal breast benign neoplasm
A breast benign neoplasm that is located_in the breast ducts.
breast myofibroblastoma
A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation.
obsolete mucoepidermoid tumor
Mucoepidermoid neoplasm (morphologic abnormality)
Mucoepidermoid neoplasm (morphology)
Mucoepidermoid neoplasm NOS (morphologic abnormality)
Mucoepidermoid tumor [obs]
benign breast phyllodes tumor
A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.
Cystosarcoma phyllodes
Phyllodes neoplasm
benign Phyllodes neoplasm
benign Phyllodes neoplasm of the breast
benign cystosarcoma phyllodes
obsolete breast papillomatosis
breast angiomatosis
A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia.
central nervous system tuberculosis
An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.
intracranial tuberculoma
tuberculoma of brain
tuberculosis of meninges and central nervous system
tuberculous abscess of brain
skeletal tuberculosis
An extrapulmonary tuberculosis that results in formation of lesions located in bone.
osteoarticular tuberculosis
obsolete cystic, mucinous, and serous neoplasm
cystic, mucinous and serous neoplasm (morphologic abnormality)
cystic, mucinous and serous tumor (qualifier value)
benign breast adenomyoepithelioma
A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.
benign Adenomyoepithelioma of the breast
breast adenomyoepithelioma
A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
breast Adenomyoepithelioma with malignant Change
malignant adenomyoepithelioma of breast
adenomyoepithelioma of the breast
breast myoepithelial neoplasm
A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.
female breast upper-inner quadrant cancer
A female breast cancer that is located_in the upper-inner quadrant of the breast.
malignant neoplasm of upper-inner quadrant of female breast
female breast lower-inner quadrant cancer
A female breast cancer that is located_in the lower-inner quadrant of the breast.
malignant neoplasm of lower-inner quadrant of female breast
female breast axillary tail cancer
A female breast cancer that is located_in the breast tissue extending into the axilla.
malignant neoplasm of axillary tail of female breast
ventricular septal defect
A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
Interventricular septal defect
Ventricular septal abnormality
supratentorial cancer
A brain cancer that is located in the supratentorial region.
Brain neoplasm, Supratentorial
malignant Supratentorial tumor
melanotic neuroectodermal tumor
Infantile Melanotic neuroectodermal neoplasm
Melanotic neuroectodermal tumor of infancy
Melanotic neuroectodermal tumour of infancy
Pigmented neuroectodermal tumour of infancy
melanotic neuroectodermal tumour
malignant pineal area germ cell neoplasm
Pineal Region germ cell tumor
malignant Pineal Parenchymal germ cell tumor
pineal germ cell tumor
obsolete malignant intracranial germ cell neoplasm
pineoblastoma
A pineal gland neoplasm located_in the brain.
Pineal PNET
obsolete central nervous system embryonal cancer
An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord.
embryonal tumor of the CNS
embryonal neoplasm of CNS
obsolete hip enthesopathy
Enthesopathy of hip region
Enthesopathy of hip region (disorder)
Enthesopathy of the hip region
Enthesopathy of the hip region (disorder)
Hip enthesopathy NOS (disorder)
Hip enthesopathy, unspecified (disorder)
obsolete peripheral enthesopathy
Behcet's syndrome arthropathy
Arthropathy in Behcet's syndrome involving ankle and foot
Arthropathy in Behcet's syndrome involving forearm
Arthropathy in Behcet's syndrome involving hand
Arthropathy in Behcet's syndrome involving lower leg
Arthropathy in Behcet's syndrome involving multiple sites
Arthropathy in Behcet's syndrome involving pelvic region and thigh
Arthropathy in Behcet's syndrome involving shoulder region
Arthropathy in Behcet's syndrome involving upper arm
Behcet syndrome arthropathy
spontaneous tension pneumothorax
A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath.
low implantation of placenta
chronic interstitial cystitis
A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency.
chronic cystitis
obsolete glaucoma associated with vascular disorder
neovascular glaucoma
A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.
secondary angle-closure glaucoma with rubeosis
obsolete congenital ichthyosis
(Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS)
Congenital ichthyosis of skin (disorder)
Congenital ichthyosis, unspecified (disorder)
Ichthyosis congenita
Ichthyosis congenita NOS (disorder)
ichthyosis congenita
obsolete congenital ichthyosiform erythroderma
X-linked ichthyosis
An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
X-linked ichthyosis with steryl-sulphatase deficiency
X-linked placental steryl-sulphatase deficiency
X-linked recessive ichthyosis
ichthyosis vulgaris
An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
Dominant congenital ichthyosiform erythroderma
Richter's syndrome
Richter syndrome
obsolete rickettsiosis
flea-borne rickettsiosis
mite-borne rickettsiosis
rickettsiosis
tick-borne rickettsiosis
rickettsia infection
neuroectodermal tumor
primitive Neuroectodermal neoplasm
aortic valve stenosis
An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
Aortic stenosis
Rheumatic aortic stenosis
rheumatic aortic valve stenosis
benign shuddering attacks
clear cell acanthoma
Pale (Clear cell) acanthoma
Adding UMLS CUI for Curling Ulcer C0013295.
duodenal ulcer
Curling Ulcer
Curling's ulcers
Stress Ulcer
peritoneum cancer
An organ system cancer that is located in the peritoneum.
cancer of peritoneum
peritoneal neoplasm
partial of retinal vein occlusion
Partial Retinal Vein Occlusion
Partial occlusion of retinal vein
retinal vein occlusion
Occlusion, of retinal vein
eccrine sweat gland neoplasm
Eccrine tumor
eccrine skin neoplasm
sweat gland benign neoplasm
Sweat gland tumor
neoplasm of sweat gland
tumor of the Sweat gland
obsolete histoplasmosis pneumonia
A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
Histoplasmosis with pneumonia (disorder)
Pneumonia with histoplasmosis (disorder)
cryptosporidiosis
A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
Cryptosporidial gastroenteritis
Infection by Cryptosporidium
intestinal cryptosporidiosis
obsolete viral gastroenteritis
A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting.
small intestine leiomyoma
A small intestine benign neoplasm that is located_in the small intestine.
leiomyoma, small Bowel
acanthoma
squamous cell neoplasm
A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
Epidermoid cell tumor
squamous cell tumor
obsolete drug-induced psychotic disease with delusion
drug psychosis
Drug-induced psychosis
Drug-induced psychotic disorder
obsolete malignant lymphatic vessel tumor
Lymphatic vessel tumor (morphologic abnormality)
Lymphatic vessel tumor (qualifier value)
Lymphatic vessel tumor NOS (morphologic abnormality)
neoplasm of the Lymphatic Vessel
conjunctival squamous cell carcinoma
A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.
Conjunctival Epidermoid carcinoma
invasive squamous cell carcinoma of the conjunctiva
ocular surface squamous neoplasia
squamous cell carcinoma of conjunctiva
conjunctival cancer
Conjunctival tumor
malignant Conjunctival tumor
malignant neoplasm of conjunctiva
malignant tumor of conjunctiva
neoplasm of conjunctiva
malignant conjunctival melanoma
Conjunctival melanoma
malignant melanoma of conjunctiva
ocular melanoma
An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
eye melanoma
intraocular melanoma
melanoma of eye
ocular cancer
A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
Ocular tumor
eye neoplasm
malignant eye neoplasm
neoplasm of eye
neoplasm of eye proper
mitral valve stenosis
A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
Mitral stenosis
facial hemiatrophy
PARRY-ROMBERG SYNDROME
obsolete Histoplasma capsulatum pneumonia
An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
American histoplasmosis
A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains.
facial nerve neoplasm
neoplasm of facial nerve
tumor of Facial nerve
glossopharyngeal nerve neoplasm
neoplasm of glossopharyngeal nerve
tumor of Glossopharyngeal nerve
Melkersson-Rosenthal syndrome
Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
Melkersson's syndrome
lip disease
A mouth disease located_in the lip.
disease of lips
conversion disorder
A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.
Conversion Hysterical Neurosis
Conversion hysteria or reaction
Hysterical neurosis, conversion type
toxic megacolon
labyrinthine unilateral reactive loss
Loss of labyrinthine reactivity, unilateral
Unilateral loss of labyrinthine reactivity
unilateral hyperactive labyrinth
hyperactive labyrinth, unilateral
hyperactive unilateral labyrinthine dysfunction
pituitary gland disease
An endocrine system disease that is located_in the pituitary gland.
pituitary disease
adrenal rest tumor
Adrenal Rest neoplasm
peritoneal mesothelioma
A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
Advanced malignant Mesothelioma of Peritoneum
advanced malignant peritoneal mesothelioma
malignant mesothelioma of peritoneum
malignant mesothelioma
A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.
Diffuse malignant Mesothelioma
advanced malignant mesothelioma
asbestos-related malignant mesothelioma
malignant tumor of Mesothelium
benign peritoneal mesothelioma
Mesothelioma of Peritoneum
peritoneal carcinoma
A peritoneum cancer that is located_in the inside of the abdomen.
primary peritoneal carcinoma
pancreas lymphoma
Lymphoma of pancreas
malignant exocrine pancreas neoplasm
A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
malignant neoplasm of the Exocrine pancreas
malignant tumor of exocrine pancreas
malignant tumour of exocrine pancreas
pancreas sarcoma
A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.
sarcoma of pancreas
pancreatic endocrine carcinoma
An islet cell tumor that has_material_basis_in epithelial cells.
Islet cell carcinoma
carcinoma of endocrine pancreas
malignant neoplasm of islets of Langerhans
pancreatic neuroendocrine carcinoma
islet cell tumor
A pancreatic cancer that is located_in the pancreatic islet cells.
Islet cell neoplasm
endocrine pancreas cancer
islet cell tumour
malignant pancreatic Endocrine tumor
malignant pancreatic Endocrine tumour
malignant tumor of endocrine pancreas
malignant tumour of endocrine pancreas
pancreatic Endocrine neoplasm
ossifying fibroma
A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
Fibro-osteoma
peripheral ossifying fibroma
neuroendocrine carcinoma
A carcinoma that derives_from neuroendocrine cells.
obsolete secondary malignant neoplasm to the pancreas
metastatic tumor to the pancreas
secondary malignant neoplasm of pancreas (disorder)
mononeuritis
neuritis
peripheral neuritis
obsolete coxsackie pericarditis
A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea.
obsolete coxsackie carditis
An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.
Enterovirus heart infection (disorder)
obsolete coxsackie endocarditis
A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions.
reflex sympathetic dystrophy
secondary lacrimal atrophy
obsolete petit mal status
Epileptic absence status
Epileptic twilight state
Petit mal status (disorder)
Petit mal status, epileptic
status epilepticus
childhood absence epilepsy
A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
petit mal seizure
pyknolepsy
absence seizure
obsolete Mild hyperemesis gravidarum
Mild hyperemesis gravidarum, antepartum
Mild hyperemesis gravidarum, delivered
mononeuritis multiplex
diabetic ketoacidosis
A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.
DIABETES MELLITUS, KETOSIS-PRONE
ketosis-prone diabetes mellitus
Menkes disease
COPPER TRANSPORT DISEASE
Menkes kinky-hair syndrome
steely hair syndrome
mononeuritis of upper limb
Mononeuritis upper limb
obsolete Strongylida infectious disease
A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida.
cannabis dependence
A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
hallucinogen dependence
A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.
cherubism 1
A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
McCune Albright syndrome
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
fibrous dysplasia of bone
osteitis fibrosa disseminata
polyostotic fibrous dysplasia
jaw cancer
A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone.
neoplasm of jaw
jaw neoplasm
skull cancer
giant cell reparative granuloma
central giant cell (reparative) granuloma
central giant cell granuloma
central giant cell reparative granuloma of jaw
bone giant cell tumor
A benign giant cell tumor that results_in the presence of multinucleated giant cells.
Giant cell neoplasm of bone
Giant cell tumor of bone
Giant cell tumour of bone
bone giant cell tumour
giant cell myeloma
osteoclastoma
chronic rheumatic pericarditis
obsolete abortion complicated by metabolic disorder
impotence
A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
Sexual impotence
erectile dysfunction
sexual dysfunction
A male reproductive system disease that is characterized by disturbances in sexual desire or performance.
hepatitis C
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
NANBH
Viral hepatitis C
chronic hepatitis C
hepatitis C infection
hepatitis nonA nonB
obsolete Flaviviridae infectious disease
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors.
eczematous dermatitis of eyelid
noninfectious dermatoses of eyelid
Non-infected eyelid dermatoses
allergic contact dermatitis of eyelid
A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant.
Contact and allergic dermatitis of eyelid
sigmoid neoplasm
neoplasm of sigmoid colon
tumor of sigmoid colon
sigmoid disease
vagina sarcoma
A vaginal cancer that has_material_basis_in connective tissue.
sarcoma of the vagina
malignant skin fibrous histiocytoma
malignant fibrous histiocytoma of skin
vaginal melanoma
malignant dermis tumor
malignant dermis tumour
malignant neoplasm of Dermis
malignant tumor of dermis
malignant tumour of dermis
malignant fibrous histiocytoma
Fibroxanthosarcoma
MFH
obsolete cutaneous fibrohistiocytic neoplasm
vaginal yolk sac tumor
A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac.
vaginal Yolk Sac neoplasm
vaginal endodermal sinus neoplasm
endodermal sinus tumor
A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
Hepatoid yolk sac tumour
Yolk Sac neoplasm
Yolk sac tumour
endodermal sinus tumour
infantile embryonal carcinoma
yolk sac tumor
germ cell cancer
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
malignant tumor of the germ cell
germ cell neoplasm
germ cell tumour
obsolete metastasis to vagina
secondary malignant neoplasm of vagina (disorder)
secondary tumor to the vagina
obsolete alternating exotropia with A pattern
Alternating exotropia with A pattern (disorder)
Lesch-Nyhan syndrome
A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
HG-PRT deficiency
HPRT1 deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine-phosphoribosyltransferase deficiency
Lesch - Nyhan syndrome
X-linked hyperuricemia
deficiency of IMP pyrophosphorylase
hypoxanthine guanine phosphoribosyltransferase deficiency
No OMIM mapping, confirmed by DO. [LS].
Klinefelter syndrome
A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
47, XXY
Hypogonadotropic Hypogonadism
Klinefelter's syndrome
XXY syndrome
XXY trisomy
obsolete endocrine syndrome
Williams-Beuren syndrome
A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
Fanconi Schlesinger syndrome
WBS
supravalvular aortic stenosis
An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.
Supra-valvular aortic stenosis
Laurence-Moon syndrome
A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
LNMS
Laurence-Moon-Biedl syndrome
hypothalamic disease
A brain disease located_in the hypothalamus.
Angelman syndrome
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
happy puppet syndrome
puppetlike syndrome
Rubinstein-Taybi syndrome
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
Broad Thumb-Hallux syndrome
Rubinstein syndrome
proximal chromosome 16p13.3 deletion syndrome
arteriosclerotic cardiovascular disease
An arteriosclerosis that results in cardiovascular disease.
Cardiovascular arteriosclerosis
obsolete primary Bacillaceae infectious disease
obsolete gonadal tissue neoplasm
obsolete intermittent alternating exotropia
Alternating intermittent exotropia (disorder)
Intermittent alternating exotropia (disorder)
Intermittent exotropia, alternating
intermittent squint
Intermittent heterotropia
telogen effluvium
obsolete reproductive endocrine cancer
obsolete benign hypertensive heart disease
benign hypertensive heart disease (disorder)
benign hypertensive heart disease NOS (disorder)
obsolete acinar cell tumor
acinar cell neoplasm
acinar cell neoplasm (morphologic abnormality)
acinar cell neoplasm NOS (morphologic abnormality)
acinar cell tumor (morphologic abnormality)
fallopian tube carcinoma
A fallopian tube cancer that is located_in the fallopian tube.
cancer of the fallopian tube
carcinoma of fallopian tube
fallopian tube Ca
fallopian tube cancer
A female reproductive organ cancer that is located_in fallopian tube.
fallopian tube neoplasm
malignant neoplasm of uterine tube
malignant tumor of fallopian tube
malignant tumour of fallopian tube
neoplasm of fallopian tube
tumor of the fallopian tube
tumor, fallopian tube, malignant
fallopian tube leiomyosarcoma
A fallopian tube cancer that dervies_from smooth muscle cells.
leiomyosarcoma
A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
Leiomyosarcomas
obsolete fallopian tube soft tissue neoplasm
smooth muscle cancer
malignant tumor of Smooth Muscle
obsolete glandular cell epithelial neoplasm
glandular cell Epithelium neoplasm
fallopian tube carcinosarcoma
A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
fallopian tube malignant mixed Mullerian tumor
fallopian tube malignant mixed mesodermal (mullerian) tumor
fallopian tube adenosarcoma
A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
fallopian tube mullerian adenosarcoma
adenosarcoma
A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
mullerian Adenosarcoma
carcinosarcoma
A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
MMMT
malignant mixed Mullerian tumor
malignant mixed mesodermal (mullerian) tumor
mesodermal mixed tumor
mixed Mesodermal (mullerian) tumor
mullerian mixed tumor
thymus lipoma
An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells.
Thymolipoma
thymus gland disease
disease of thymus gland
obsolete lipoma of the mediastinum
Lipoma of mediastinum
obsolete juxtapapillary focal choroiditis and chorioretinitis
Focal choroiditis and chorioretinitis, juxtapapillary
Juxtapapillary focal choroiditis AND chorioretinitis (disorder)
obsolete mesonephric tumor
Mesonephric neoplasm
Mesonephric neoplasm (morphology)
Mesonephric tumor (morphologic abnormality)
Wolffian duct tumour
obsolete Rhabdoviridae infectious disease
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses.
obsolete Mononegavirales infectious disease
A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses.
obsolete perinatal disease
obsolete fetal disease
fetus disorder
rectum lymphoma
Lymphoma of rectum
rectum cancer
A colorectal cancer that is located_in the rectum.
carcinoma of rectum
carcinoma of the rectum
malignant Rectal tumor
malignant neoplasm of rectum
malignant rectum tumor
malignant tumor of rectum
rectal cancer
cancer of rectum
obsolete metastasis to the rectum
metastatic tumor to the rectum
obsolete metastases to large Intestine
metastatic tumor to the large Intestine
secondary malignant neoplasm of large intestine (disorder)
rectum malignant melanoma
malignant melanoma of rectum
melanoma of rectum
rectum sarcoma
A sarcoma and malignant tumor of rectum that is located_in the rectum.
sarcoma of rectum
rectum adenocarcinoma
A rectum cancer that derives_from epithelial cells of glandular origin.
Rectal adenocarcinoma
Lutembacher's syndrome
Lutembacher syndrome
Lutembacher's anomaly
chronic eustachian salpingitis
A otosalpingitis which is persistent and long-lasting.
chronic eustachian tube salpingitis
benign giant cell tumor
neuroma
A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
obsolete tracheal tuberculosis
A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing.
Isolated tracheal or bronchial tuberculosis (disorder)
Isolated tracheal or bronchial tuberculosis NOS (disorder)
Isolated tracheal or bronchial tuberculosis, unspecified examination
preretinal fibrosis
Macular puckering of retina
Macular retinal puckering
cellophane maculopathy
obsolete impaired mobility of ear ossicles except malleus
Impaired mobility of ear ossicles, except malleus (disorder)
Impaired mobility of other ear ossicles
Nezelof syndrome
A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
Nezelof's syndrome
T-cell immunodeficiency with thymic aplasia
TIDTA
thymic aplasia
thymic dysplasia with normal immunoglobulins
obsolete perinatal digestive system disorder
hyperinsulinism
hyperinsulinemia
placenta cancer
A female reproductive organ cancer that is located_in the placenta.
Placental tumors
malignant Placental tumor
malignant neoplasm of placenta
neoplasm of placenta
placental cancer
primary malignant neoplasm of placenta
obsolete metastatic neoplasm to the placenta
metastatic tumor to the Placenta
placental choriocarcinoma
A gestational choriocarcinoma that is located_in the placenta.
Choriocarcinoma of the Placenta
gestational choriocarcinoma
A choriocarcinoma that develops in the presence of a preceding gestational event.
Gestational chorionepithelioma
Molar pregnancy with choriocarcinoma
choriocarcinoma
A placenta cancer that has_material_basis_in trophoblastic cells.
Chorioepithelioma
obsolete fetal or neonatal hemorrhage
exostosis
A hyperostosis that involves formation of new bone on the surface of preexisting bone.
bone spur
bony outgrowth
orbital exostosis
osteophyte
swimmer's exostosis
obsolete urogenital abnormality
hepatitis B
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.
chronic hepatitis B
hepatitis B infection
Serum hepatitis
drug-induced hepatitis
Drug-induced chronic hepatitis
hepatitis D
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus (Orthohepadnavirus hominoidei). The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. Hepatitis delta virus, also known as Hepatitis D virus, is not a single viral species but a group of viruses from the genus Deltavirus including Deltavirus italiense, Deltavirus japanense, Deltavirus peruense, Deltavirus taiwanense, Deltavirus togense, Deltavirus carense, Deltavirus cameroonense, Deltavirus senegalense.
delta hepatitis
acute maxillary sinusitis
A maxillary sinusitis which lasts for less than 4 weeks.
acute antritis
reactive cutaneous fibrous lesion
post-traumatic stress disorder
An anxiety disorder which results from a traumatic experience that results in psychological trauma.
PTSD
traumatic neurosis
chronic mucocutaneous candidiasis
A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.
hereditary multiple exostoses
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
Multiple congenital exostosis
Multiple exostosis syndromes
Osteochondromatosis syndrome
hereditary multiple exostoses 1
hereditary multiple exostoses 2
hereditary multiple exostoses 3
multiple ostechondromas
vulvar nodular hidradenoma
A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells.
nodular hidradenoma
Eccrine nodular hidradenoma
hidradenoma
A sweat gland benign neoplasm that is located_in an apical sweat gland.
Hidradenoma of skin
Sweat gland adenoma
Syringoadenoma
obsolete vulvar tumor of skin appendage origin
vulvar syringoma
A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching.
syringoma
vulvar angiokeratoma
A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis.
Fordyce angiokeratoma of vulva
Bartholin's gland benign neoplasm
Bartholin gland neoplasm
tumor of Bartholin's gland
obsolete vulvar acquired melanocytic nevus
obsolete vulvar melanocytic neoplasm
vulvar squamous papilloma
vulvar squamous tumor
A vulva cancer that has_material_basis_in squamous tissue.
perinatal intestinal perforation
intestinal perforation
Perforation of intestine
minor vestibular glands adenoma
A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
adenoma of minor vestibular glands
vulvar glandular tumor
A vulva cancer that has_material_basis_in glandular tissue.
obsolete vulvar congenital melanocytic nevus
chondroid syringoma of the vulva
eccrine mixed tumor of skin
Eccrine mixed tumor
Eccrine mixed tumour
eccrine mixed tumour of skin
mixed Eccrine neoplasm of the skin
obsolete hereditary neoplastic syndrome
Familiar neoplastic syndrome
vulvar trichoepithelioma
A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus.
obsolete vulvar soft tissue tumor
obsolete vulvar blue nevus
obsolete blue nevus
Blue naevus
Blue nevus (morphologic abnormality)
Blue nevus NOS (morphologic abnormality)
Blue nevus of skin (disorder)
Blue skin nevus
reviewed 10/2022 & determined to be a symptom
obsolete outlet dysfunction constipation
obsolete constipation
A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
vulvar melanoma
A vulva cancer that has_material_basis_in melanocytes.
malignant melanoma of vulva
obsolete vulvar sweat gland cancer
sweat gland cancer
malignant neoplasm of sweat gland
malignant tumor of the Sweat gland
vulvar sarcoma
A vulva cancer that has_material_basis_in connective tissue.
sarcoma of vulva
vulval Paget's disease
A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
Paget's disease of vulva
Vulvar Paget's disease
vulval Paget disease
vulva adenocarcinoma
A vulva carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of Vulva
adenocarcinoma of the vulva
obsolete extramammary Paget's disease
Extramammary Paget's disease (morphologic abnormality)
Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality)
extramammary Paget disease
heel spur
An exostosis that results_in an abnormal growth located_in calcaneus.
Calcaneal spur
obsolete vulvar metastasis
vulva squamous cell carcinoma
A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue.
Vulvar Epidermoid carcinoma
vulvar squamous cell carcinoma
squamous cell carcinoma of vulva
obsolete transplant-related disease
An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another.
obsolete Ankle or tarsus enthesopathy
cystoisosporiasis
A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
Infection by Isospora belli and Isospora hominis
Isosporosis
isosporiasis
focal dermal hypoplasia
A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
FDH
FODH
Goltz syndrome
Goltz-Gorlin syndrome
pneumonic tularemia
A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing.
Pneumonic tularaemia
bronchopneumonic tularemia
pulmonary tularemia
obsolete intracranial neoplasm
intracranial central nervous system tumors
intracranial tumor (disorder)
intracranial tumors, malignant
malignant intracranial neoplasm
brain germinoma
A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells.
germinoma of the brain
intracranial germinoma
obsolete intracranial germinoma
atypical teratoid rhabdoid tumor
A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
AT/RT
ATRT
Atypical teratoid/rhabdoid tumor
Atypical teratoid/rhabdoid tumour
Rhabdoid tumor of the CNS
Rhabdoid tumour of the CNS
atypical teratoid rhabdoid tumour
obsolete childhood malignant central nervous system neoplasm
malignant pediatric tumor of CNS
central nervous system sarcoma
A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
sarcoma of the CNS
temporal lobe neoplasm
malignant neoplasm of temporal lobe
neoplasm of temporal lobe
tumor of Temporal Lobe
paraurethral gland neoplasm
neoplasm of paraurethral glands
tumor of the Paraurethral gland
urethral benign neoplasm
neoplasm of urethra
neoplasm. urethra
urethral urothelial papilloma
urethra leiomyoma
An urethral benign neoplasm that derives_from smooth muscle cells.
leiomyoma of the urethra
ovarian malignant mesothelioma
An ovarian cancer that derives_from mesothelial tissue.
malignant ovarian cyst
An ovarian cancer that is characterized by cystic structure.
ovary sarcoma
An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
sarcoma of Ovary
obsolete ovary soft tissue neoplasm
soft tissue tumor of Ovary
tuberculous oophoritis
An urogenital tuberculosis that results_in inflammtion located_in ovary.
ovarian lymphoma
An ovarian cancer that arises_from lymphocytes.
malignant ovarian surface epithelial-stromal neoplasm
An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
ovary epithelial cancer
An ovarian cancer that is derives_from ovarian surface epithelium.
Ovarian Surface epithelial-Stromal tumor
ovarian Wilms' cancer
A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries.
ovarian Wilms' tumor
nephroblastoma
A kidney cancer that affects the kidneys and typically occuring in children.
adult nephroblastoma
Wilms' tumor
kidney cancer
A urinary system cancer that is located_in the kidney.
malignant neoplasm of kidney except pelvis
malignant tumour of kidney
renal cancer
malignant ovarian germ cell neoplasm
malignant Ovarian germ cell tumor
malignant germ cell tumor of ovary
ovarian germ cell cancer
An ovarian cancer that originates in the germ (egg) cells of the ovary.
germ cell neoplasm of Ovary
germ cell tumor of ovary
ovarian germ cell tumor
obsolete lung metastasis
metastasis to lung
metastatic tumor to the lung
secondary malignant neoplasm of lung
secondary malignant neoplasm of lung (disorder)
enamel caries
Dental caries limited to enamel
primary dental caries
simple dental cavity
obsolete malignant eyelid tumor
malignant neoplasm of the eyelid
malignant tumor of eyelid (disorder)
eyelid benign neoplasm
tumor of the eyelid
carbuncle
Carbuncle and furuncle of buttock
Carbuncle and furuncle of face
carbuncle and furuncle of any part of face except eye
carbuncle and furuncle of foot
carbuncle and furuncle of gluteal region
carbuncle and furuncle of hand
carbuncle and furuncle of leg except foot
carbuncle and furuncle of neck
carbuncle and furuncle of trunk
carbuncle and furuncle of upper arm and forearm
obsolete complications mainly related to pregnancy
Asymptomatic bacteriuria antepartum
Asymptomatic bacteriuria in pregnancy, with delivery
Asymptomatic bacteriuria postpartum
Gonorrhea + pregnancy
Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium
Syphilis + pregnancy
Syphilis complicating pregnancy, childbirth, or the puerperium
antepartum gonorrhea
antepartum malaria
antepartum syphilis
gonorrhea complicating pregnancy, childbirth, or the puerperium
gonorrhea of mother with delivery
malaria complicating pregnancy, childbirth, or the puerperium
malaria of mother with delivery
postpartum gonorrhea
postpartum malaria
postpartum syphilis
syphilis of mother, complicating pregnancy, with delivery
obsolete diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations
Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations
Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations
ascending colon cancer
Ca ascending colon
malignant neoplasm of right colon
malignant tumor of ascending colon
obsolete diabetic oculopathy
post-surgical hypoinsulinemia
Postsurgical hypoinsulinemia
obsolete macrocephaly
(Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly)
Cole-Hughes syndrome
MACROCEPHALY, benign familial
Macrocephaly (disorder)
megacephaly
dental enamel hypoplasia
enamel hypoplasia
acute perichondritis of pinna
A perichondritis of auricle with a sudden onset and a short course.
factor XIII deficiency
A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.
Factor XIII deficiency disease
Hereditary factor XIII deficiency disease
deficiency, Laki-Lorand factor
hemarthrosis
Haemarthrosis of shoulder joint
Haemarthrosis of the ankle and foot
Haemarthrosis of the pelvic region and thigh
Hemarthrosis involving ankle and foot
Hemarthrosis involving forearm
Hemarthrosis involving hand
Hemarthrosis involving lower leg
Hemarthrosis involving pelvic region and thigh
Hemarthrosis involving shoulder region
Hemarthrosis involving upper arm
Hemarthrosis of ankle and/or foot
Hemarthrosis of forearm
Hemarthrosis of hand
Hemarthrosis of lower leg
Hemarthrosis of shoulder
Hemarthrosis of shoulder region
Hemarthrosis of the ankle and foot
Hemarthrosis of the ankle and/or foot
Hemarthrosis of the forearm
Hemarthrosis of the hand
Hemarthrosis of the lower leg
Hemarthrosis of the pelvic region and thigh
Hemarthrosis of the shoulder region
Hemarthrosis of the upper arm
Hemarthrosis of upper arm
obsolete coagulation protein disease
obsolete inherited blood coagulation disease
factor VII deficiency
A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
deficiency, stable
factor V deficiency
Hereditary hypoproaccelerinaemia
Labile factor deficiency
Proaccelerin deficiency
deficiency, labile
Glanzmann's thrombasthenia
A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
BDPLT2
Glanzmann thrombasthenia
Glycoprotein IIb/IIIa defect
Thrombocytasthenia
deficiency of GP IIb-IIIa complex
deficiency of glycoprotein complex IIb-IIIa
deficiency of platelet fibrinogen receptor
platelet glycoprotein IIb-IIIa deficiency
platelet-type bleeding disorder 2
thrombasthenia of Glanzmann and Naegeli
factor X deficiency
A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
disease, Stuart-Prower
platelet storage pool deficiency
Dense body defect
Platelet dense granule deficiency
Platelet storage pool defect
essential thrombocythemia
A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
Essential thrombocythaemia
familial thrombocytosis
hemorrhagic thrombocythemia
hereditary thrombocythemia
primary Thrombocytosis
A legacy term, obsoleted.
obsolete megakaryocytic tumor
obsolete malignant neoplasm of lymphatic and hemopoietic tissue
thrombocytosis
A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
Thrombocythaemia
factor XI deficiency
A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
Congenital factor XI deficiency
Hereditary factor XI deficiency disease
Rosenthal's disease
hemophilia C
plasma thromboplastin antecedent deficiency
basilar artery insufficiency
Basilar artery syndrome
obsolete hemophilia
Haemophilia
Hemophilia (disorder)
Hemophilia NOS
factor XII deficiency
A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
Factor XII deficiency disease
Hageman Factor deficiency
deficiency, Hageman
obsolete coagulation factor deficiency
obsolete partial epilepsy with impairment of consciousness
prothrombin deficiency
A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.
Congenital factor II deficiency
Hereditary factor II deficiency disease
hypoprothrombinemia
Factor II deficiency
congenital afibrinogenemia
A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
granulomatous hepatitis
brain ischemia
An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
Ischaemic encephalopathy
Ischemic encephalopathy
cerebral ischemia
obsolete mild recurrent major depression
Major depressive disorder, recurrent episode, mild degree
Mild recurrent major depression (disorder)
recurrent major depressive episodes, mild (disorder)
spondylosis
A bone structure disease that involves degeneration between vertebra located_in vertebral column.
Lumbar spondylosis with myelopathy
Spondylogenic compression of lumbar spinal cord
Spondylogenic compression of thoracic spinal cord
Thoracic or lumbar spondylosis with myelopathy
lumbosacral spondylosis without myelopathy
spondylosis with myelopathy
hypertrophic elongation of cervix
obsolete short rib-polydactyly syndrome
Was annotated with alternate_id: DOID:0060034 (last included in release 2023-08-08) but has been removed because the IRI was inadvertently reused for a new disease (starting with release v2022-11-30) and the original disease for the IRI only existed in the ontology for 2 days (2010-06-08 to 10) while the ontology was still in the alpha phase of development [JAB].
obsolete primary Spirochaetales infectious disease
Spirochetes infectious disease
obsolete Treponema infectious disease
Treponema infection
Treponemal disease
Treponemal infection
Treponemal infectious disease
obsolete oropharyngeal candidiasis
A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing.
Oropharyngeal Candidiasis
oropharyngeal thrush
vulvovaginal candidiasis
A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
Candidal cervix
Candidal vulvovaginitis
Candidiasis of vulva and vagina
Monilial vulvovaginitis
vulvovaginitis
A female reproductive system disease that is characterized by inflammation of the vagina and vulva.
Vulvo-vaginitis
pharyngitis
An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
Inflamed throat
Persistent sore throat
Pharyngeal disorder
Pharyngitis - acute
Sore throat - chronic
acute pharyngitis
chronic pharyn/nasopharyngitis
chronic pharyngitis
chronic pharyngitis and nasopharyngitis
chronic sore throat
pharyngeal disease
obsolete joint derangement
hidradenitis suppurativa
A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
Acne inversa, familial
hidradenitis
A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
Hydradenitis
keratopathy
capillary lymphangioma
cutaneous lymphangioma
leptospirosis
A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
Fort Bragg fever
Leptospirosis icterohaemorrhagica
Rat Catcher's Yellows
Weil's disease
nanukayami fever
spirochetal jaundice
lateral sclerosis
A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
adult-onset primary lateral sclerosis
primary lateral sclerosis
spondylolysis
A bone structure disease that involves a defect located_in lumbar vertebral column.
atrophy of prostate
stereotypic movement disorder
A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
Stereotyped repetitive movements
Stereotypy habit disorder
nocardiosis
An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy.
Nocardia infectious disease
obsolete primary Actinomycetales infectious disease
Actinomycetales infection
malt worker's lung
An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.
Malt workers' lung
Malt-workers' lung
alveolitis due to aspergillus clavatus
malt worker lung
obstructive lung disease
A lung disease that is characterized by narrowing of pulmonary airways.
respiratory airway obstruction
obsolete dyspepsia
obsolete prostate non-neoplastic disease
obsolete coxsackie meningitis
An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain.
Coxsackie meningitis (disorder)
Coxsackie viral meningitis
Meningitis due to coxsackie virus
obsolete enterovirus meningitis
viral gastritis
A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting.
gastritis
A stomach disease that is an inflammation of the lining of the stomach.
Erosive Gastritis
Erosive gastropathy
acute gastric mucosal erosion
obsolete astrovirus gastroenteritis
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever.
obsolete Rotavirus gastroenteritis
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.
Enteritis due to rotavirus (disorder)
rotavirus enteritis
obsolete ocular tuberculosis
Tuberculosis of eye
Tuberculosis of eye (disorder)
Tuberculosis of eye NOS (disorder)
Tuberculosis of eye, unspecified examination
obsolete metastatic carcinoma
A carcinoma that is able to grow at sites distant from the primary site of origin.
carcinoma, metastatic (morphologic abnormality)
carcinoma, metastatic, NOS (morphologic abnormality)
metastatic carcinoma
mandibular cancer
A jaw cancer and mandibular disease that affects your lower jawbone.
malignant neoplasm of inferior maxilla
malignant neoplasm of lower Jaw bone
mandible cancer
neoplasm of mandible
malignant neoplasm of mandible
mandibular neoplasm
Crouzon syndrome
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
Craniofacial Dysostosis
Crouzon's disease
colon adenocarcinoma
A colon carcinoma that derives_from epithelial cells of glandular origin.
Colonic adenocarcinoma
adenocarcinoma of colon
adenocarcinoma of the colon
polyclonal hypergammaglobulinemia
monoclonal paraproteinemia
Monoclonal paraproteinaemia
generalized atherosclerosis
An atherosclerosis that is not localized.
Generalised atherosclerosis
obsolete iron overload
Iron overload (disorder)
myelophthisic anemia
An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
ANEMIA LEUKOERYTHROBLASTIC
Anemia, leukoerythroblastic
Leukoerythroblastosis
myelophthisis
post-thrombotic syndrome
A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.
Postphlebetic syndrome with inflammation
Postphlebetic syndrome with ulcer
Postphlebetic syndrome with ulcer and inflammation
postphlebitic syndrome
venous stress disorder
West Nile fever
A viral infectious disease that results_in infection, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.
gangliosidosis
A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
obsolete diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations
Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations
Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations
obsolete adhesions and disruptions of iris and ciliary body
adhesions and disruptions of iris and ciliary body (disorder)
adhesions and disruptions of iris and ciliary body NOS (disorder)
obsolete diabetic nephropathy
hereditary elliptocytosis
A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
Congenital elliptocytosis
ovalocytosis
This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS]
obsolete chronic progressive multiple sclerosis
chronic progressive multiple sclerosis (disorder)
demyelinating disease
A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.
demyelinating disorder
relapsing-remitting multiple sclerosis
A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.
RRMS
Relapsing-remitting MS
obsolete Vibrio cholerae O1 biovar El Tor cholera
A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor.
Cholera due to Vibrio cholerae El Tor (disorder)
Cholera due to Vibrio cholerae el tor
Vibrio cholerae 01 biovar cholerae cholera
Vibrio cholerae O1 biovar eltor cholera
Vibrio cholerae biovar El Tor cholera
Vibrio cholerae el tor cholera
cholera due to Vibrio cholerae 01 biovar cholerae
Cholera due to Vibrio cholerae 01, biovar el tor
kernicterus
A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
bilirubin encephalopathy
Wernicke encephalopathy
A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).
Wernicke's disease
Wernicke's encephalopathy
obsolete thiamine deficiency
Thiamin deficiency (disorder)
Thiamine deficiency
Thiamine deficiency, unspecified
Thiamine deficiency, unspecified (disorder)
thiamine deficiency
vitamin B1 deficiency
obsolete fibromuscular dysplasia
Fibromuscular dysplasia (morphologic abnormality)
Fibromuscular hyperplasia of arteries NOS (disorder)
Fibromuscular hyperplasia of artery
Fibromuscular hyperplasia of artery (disorder)
Fibromuscular hyperplasia of artery [Ambiguous]
obsolete iridodialysis
coredialysis
glandular cystitis
cystitis glandularis
obsolete ovarian clear cell neoplasm
Clear cell tumor of ovary (disorder)
clitoris cancer
A vulva cancer that is located_in the clitoris.
Clitoral Ca
carcinoma of Clitoris
clitoral cancer
malignant neoplasm of clitoris
malignant tumor of Clitoris
obsolete lymphangiectasis
Lymphangiectases (disorder)
Lymphangiectasis (morphologic abnormality)
rhinosporidiosis
A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed.
Infection by Rhinosporidium seeberi
skin granular cell tumor
granular cell neoplasm of the skin
granular cell tumor of skin
granular cell tumour of skin
skin granular cell tumour
granular cell tumor
neoplasm of granular cell
obsolete skin tumor of neural origin
neural tumor of the skin
skin tumor of neural origin (disorder)
obsolete epithelioid and spindle cell nevus
Pigmented spindle cell naevus of Reed
Spitz (spindle cell) nevus
epithelioid and spindle cell nevus (disorder)
obsolete benign skin melanocytic nevus
Magnocellular nevus
Magnocellular nevus (morphologic abnormality)
Naevus - benign
benign melanocytic naevus
benign melanocytic naevus of skin
benign melanocytic nevus
benign melanoma
benign nevus of skin
cutaneous melanocytic neoplasm
melanocytic neoplasm
melanocytic neoplasm (disorder)
melanocytic neoplasm of skin
melanocytic tumor of skin (disorder)
melanocytoma
obsolete melanocytic nevus
Sutton's naevus
obsolete skin fibrous tissue neoplasm
Cutaneous fibrous tissue neoplasm
fibrous tissue tumor of skin (disorder)
obsolete halo nevus
HALO NEVI
Halo nevus (disorder)
Halo nevus (morphologic abnormality)
obsolete intradermal nevus
Dermal cellular nevus (disorder)
Dermal nevus
Intradermal nevus (morphologic abnormality)
cutaneous ganglioneuroma
Ganglioneuroma of skin
gangliocytoma
A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
gangliocytoma of central nervous system
skin glomus tumor
Glomus skin neoplasm
Glomus tumor of skin
Glomus tumour of skin
skin glomus tumour
glomus tumor
A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
Glomus neoplasm
Glomus tumour
hemangiopericytic tumor
Hemangiopericytic neoplasm
epidermal appendage tumor
neoplasm of skin with adnexal differentiation
neoplasm of the skin Appendage
skin appendage tumour
obsolete intraepidermal nevus
Junctional melanocytic nevus of skin (disorder)
Junctional nevus (morphologic abnormality)
Junctional nevus of the skin
skin glomangioma
Cutaneous Glomangioma
Glomangioma of skin
glomangioma
A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.
Glomuvenous Malformation
benign perivascular tumor
obsolete skin compound nevus
Compound nevus (morphologic abnormality)
Compound nevus of skin (disorder)
compound nevus
dermis tumor
dermis tumour
neoplasm of Dermis
tumor of dermis
tumour of dermis
frontal sinus squamous cell carcinoma
A squamous cell carcinoma that is located_in the frontal sinus.
Epidermoid carcinoma of the Frontal sinus
paranasal sinus squamous cell carcinoma
A paranasal sinus cancer that derives_from squamous epithelial cells.
epidermoid carcinoma of the paranasal sinus
squamous cell carcinoma of paranasal sinus
hyperpituitarism
obsolete gigantism
Anterior pituitary hyperfunction
Pituitary gigantism
acromegaly
A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
central retinal vein occlusion
angular blepharoconjunctivitis
A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.
giant papillary conjunctivitis
papillary conjunctivitis
anterior dislocation of lens
obsolete reactive confusion
Psychogenic confusion
Psychogenic twilight state
obsolete swine erysipelas
Erysipelas in swine
obsolete Erysipelothrix infectious disease
Erysipeloid (disorder)
Erysipelothrix disease (disorder)
Seal finger (disorder)
obsolete Erysipelothrix rhusiopathiae infectious disease
Infection due to E. rhusiopathiae
Infection due to Erysipelothrix rhusiopathiae
vernal conjunctivitis
paraplegia
Paraplegia, lower
motor peripheral neuropathy
A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
HSMN
HSMN - Hereditary sensory and motor neuropathy
Hereditary motor and sensory neuropathy
Peripheral Motor Neuropathy
neuropathic muscular atrophy
central nervous system origin vertigo
A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking.
Vertigo of central origin
central vestibular vertigo
trachea leiomyoma
A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
leiomyoma of the Trachea
obsolete infantile epileptic encephalopathy
obsolete hypercholesterolemia
hypercholesteremia
hypercholesterolaemia
obsolete hereditary peripheral neuropathy
Hereditary peripheral neuropathy (disorder)
Hereditary peripheral neuropathy NOS (disorder)
gastric antral vascular ectasia
Watermelon stomach
senile angioma
Senile hemangioma
Senile naevus of skin
enamel erosion
obsolete chronic brain damage
chronic Encephalopathy
chronic brain damage
chronic brain syndrome (disorder)
obsolete AIDS-related vulvovaginal candidiasis
A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients.
Takayasu's arteritis
A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
Aortic arch arteritis
Idiopathic aortitis
Takayasu arteritis
Takayasu's disease
aortic arch syndrome
alcohol-induced mental disorder
Kluver-Bucy syndrome
An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.
Klver-Bucy syndrome
basal cell carcinoma
A skin carcinoma affecting basal cells.
Basal cell cancer
Basal cell carcinoma of skin
Basal cell neoplasm
Basal cell tumor
Epithelioma basal cell
Rodent ulcer
malignant Basal cell neoplasm
malignant basal cell tumor
skin carcinoma
A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
carcinoma of skin
obsolete meningococcal optic neuritis
Meningococcal optic neuritis (disorder)
obsolete meningococcal infectious disease
intracranial cavernous angioma
intracranial Cavernoma
intracranial structure hemangioma
Angioma of intracranial Structure
hemangioma of intracranial structure
hemangioma of intracranial structures
orchitis
Inflammation of testis
Orchititis
alcoholic psychosis
An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.
Alcoholic psychoses
obsolete abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium
abnormal glucose tolerance of mother with delivery
antepartum abnormal glucose tolerance of mother
postpartum abnormal glucose tolerance of mother
prostate adenocarcinoma
A prostate carcinoma that derives_from epithelial cells of glandular origin.
proteinuria
A kidney disease that is characterized by the presence of excess proteins in the urine.
obsolete myeloid metaplasia
A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work.
Myeloid metaplasia (morphologic abnormality)
splenic abscess
splenic infarction
Splenic infarct
chronic inflammatory demyelinating polyneuritis
Landau-Kleffner syndrome
A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
acquired epileptic aphasia
hemangioma of intra-abdominal structure
hemangioma of intra-abdominal structures
hemangioma, Intra-abdominal
extratemporal epilepsy
An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
obsolete congenital epilepsy
obsolete atonic epilepsy
Atonic epilepsy
Epileptic seizures - atonic (finding)
obsolete intractable epilepsy
obsolete aggravated epilepsy
tactile epilepsy
obsolete anosognostic epilepsy
granulomatous angiitis
relapsing polychondritis
A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
Chondromalacia, systemic
articular cartilage disease
A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones.
opiate dependence
A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.
Opioid type dependence
drug dependence
A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
hemangioma of spleen
Splenic hemangioma
morphine dependence
An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.
suppurative periapical periodontitis
Apical abscess
Dentoalveolar abscess
Periapical abscess
Suppurative apical periodontitis
obsolete Serratia septicemia
Septicemia due to Serratia (disorder)
Septicemia due to serratia
macular corneal dystrophy
A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
Fehr corneal dystrophy
MACULAR DYSTROPHY, CORNEAL, 1
obsolete primary Enterobacteriaceae infectious disease
malignant histiocytic disease
histiocytosis
A lymphatic system disease that is characterized by an excessive number of histiocytes.
Hand Schuller Christian disease
chronic Histiocytosis X
Langerhans-cell histiocytosis
A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
Histiocytosis X
Langerhan's cell histiocytosis
Langerhans cell granulomatosis
Letterer-Siwe disease
Letterer-Siwe disease involving intra-abdominal lymph nodes
Letterer-Siwe disease involving intrapelvic lymph nodes
Letterer-Siwe disease involving intrathoracic lymph nodes
Letterer-Siwe disease involving lymph nodes of axilla and upper limb
Letterer-Siwe disease involving lymph nodes of head, face and neck
Letterer-Siwe disease involving lymph nodes of head, face, and neck
Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb
Letterer-Siwe disease involving lymph nodes of multiple sites
Letterer-Siwe disease involving spleen
Letterer-Siwe disease of intra-abdominal lymph nodes
Letterer-Siwe disease of intrapelvic lymph nodes
Letterer-Siwe disease of intrathoracic lymph nodes
Letterer-Siwe disease of lymph nodes of axilla and upper limb
Letterer-Siwe disease of lymph nodes of axilla and/or upper limb
Letterer-Siwe disease of lymph nodes of head, face and neck
Letterer-Siwe disease of lymph nodes of head, face and/or neck
Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
Letterer-Siwe disease of lymph nodes of multiple sites
Letterer-Siwe disease of spleen
obsolete drug-induced delirium
Drug-induced delirium (disorder)
obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations
Diabetes mellitus juvenile type, uncontrolled, with renal manifestations
Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations
barbiturate dependence
A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.
acatalasia
A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
acatalasemia
deficiency of catalase
obsolete nephrotic syndrome with lesion of endothelial glomerulonephritis
obsolete nephrotic syndrome with lesion of segmental hyalinosis
obsolete nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis
Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis
obsolete nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis
Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis
obsolete nephrotic syndrome with lesion of persistent glomerulonephritis
Nephrotic syndrome with Lesion of Persistent Glomerulonephritis
obsolete nephrotic syndrome with lesion of membranous glomerulonephritis
Nephrotic syndrome with lesion of membranous glomerulonephritis
obsolete abortion complicated by embolism
obsolete nephrotic syndrome with lesion of lobular glomerulonephritis
Nephrotic syndrome with Lesion of Lobular Glomerulonephritis
obsolete nephrotic syndrome with lesion of focal glomerulosclerosis
Nephrotic syndrome with Lesion of Focal Glomerulosclerosis
glottis cancer
Ca larynx - glottis
malignant tumor of glottis
malignant tumor of the Glottis
glottis neoplasm
neoplasm of glottis
tumor of the Glottis
glottis carcinoma
Glottic carcinoma
carcinoma of glottis
hepatic flexure cancer
Ca hepatic flexure - colon
malignant neoplasm of hepatic flexure
malignant tumor of hepatic flexure
laryngeal carcinoma
A larynx cancer that has_material_basis_in epithelial cells.
cancer of larynx
carcinoma of larynx
juxtacortical chondroma
Periosteal Chondroma
adenomyoma
A cell type benign neoplasm that has_material_basis_in gland and muscle components.
transverse colon cancer
Ca transverse colon
malignant tumor of transverse colon
serous surface papilloma
Wolffian duct adenoma
A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct.
Mesonephric adenoma
Mesonephroma, benign
benign mesonephroma
kidney hemangiopericytoma
A kidney cancer which is manifested in the kidney.
hemangiopericytoma of kidney
renal hemangiopericytoma
obsolete ductal, lobular, and medullary neoplasm
ductal, lobular and medullary neoplasm (morphologic abnormality)
ductal, lobular and medullary tumor (qualifier value)
autonomic nervous system neoplasm
A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
tumor of Autonomic nervous system
obsolete neuroblastic tumor
obsolete neuronal and glio-neuronal neoplasm
neuronal and Glio-neuronal tumor
neuronal and mixed neuronal-glial tumor (morphologic abnormality)
choroid plexus papilloma
childhood choroid plexus papilloma
cerebrovascular benign neoplasm
A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system.
obsolete papillary serous cystadenoma
Papillary serous cystadenoma (morphologic abnormality)
Papillary serous cystadenoma NOS (morphologic abnormality)
obsolete papillary cystadenoma
Papillary Cystadenoma
Papillary cystadenoma (morphologic abnormality)
Papillary cystadenoma NOS (morphologic abnormality)
obsolete serous cystadenoma
serous Cystoma
serous cystadenoma NOS (morphologic abnormality)
serous microcystic adenoma
papillary serous adenocarcinoma
A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
Micropapillary serous carcinoma
Papillary serous carcinoma
serous surface papillary carcinoma
papillary adenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.
Infiltrating and papillary adenocarcinoma
infiltrating papillary adenocarcinoma
obsolete mucinous cystadenoma
mucinous adenoma
mucinous adenoma (morphologic abnormality)
mucinous cystadenoma
mucinous cystadenoma (morphologic abnormality)
cystadenoma
An adenoma that forms a cyst.
Cystoma
obsolete mucinous neoplasm
mucinous tumor
ovarian Brenner tumor
An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
benign ovarian Brenner tumor
benign ovarian Brenner tumour
ovarian Brenner tumour
breast pericanalicular fibroadenoma
A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
Pericanalicular Fibroadenoma of breast
Pericanalicular fibroadenoma
hemangiopericytoma
A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
Haemangiopericytic meningioma
hemangiopericytoma, malignant
malignant hemangiopericytoma
struma ovarii
An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue.
benign struma ovarii
ovarian germ cell monodermal and highly specialized teratoma
A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary.
Ovarian Monodermal and Highly Specialized teratoma
monodermal teratoma
An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).
Ovarian Monodermal teratoma
obsolete lymphangiomyoma
Lymphangioleiomyoma
Lymphangiomyoma (morphologic abnormality)
perivascular epithelioid cell tumor
PEComa
neoplasm with Perivascular epithelioid cell differentiation
benign mesothelioma
A cell type benign neoplasm that has_material_basis_in mesothelium.
benign tumor of Mesothelium
parachordoma
sebaceous adenoma
adenoma of the Sebaceous gland
skin appendage sebaceous adenoma
sebaceous gland neoplasm
Sebaceous neoplasm
chondroblastoma
A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.
Chondroblastoma of bone
spleen angiosarcoma
An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen.
Splenic hemangiosarcoma
angiosarcoma of spleen
obsolete intraductal papillomatosis
Intraductal papillomatosis
Intraductal papillomatosis (morphologic abnormality)
Intraductal papillomatosis NOS (morphologic abnormality)
benign fibrous mesothelioma
fibrous mesothelioma, benign
localized benign fibrous Mesothelioma
obsolete serous neoplasm
breast intracanalicular fibroadenoma
A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts.
cystic teratoma
A benign teratoma that is characterized by the presence of cysts or cystic spaces.
obsolete malignant soft tissue neoplasm of the spleen
malignant soft tissue tumor of Spleen
myoepithelioma
A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
Myoepithelial adenoma
Myoepithelial neoplasm
benign myoepithelioma
Obsolete concept in NCI, LS.
obsolete benign mesenchymoma
Mesenchymoma, benign
mesenchymoma
Pacinian tumor
Pacinian neurofibroma
transitional papilloma
transitional cell papilloma
transitional cell papilloma, benign
transitional cell carcinoma
A carcinoma that derives_from transitional epithelial cells.
transitional carcinoma
transitional cell tumor
urothelial cell carcinoma
transitional cell neoplasm
adult cystic nephroma
A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour
obsolete papillary pseudomucinous cystadenoma
Papillary mucinous cystadenoma (morphologic abnormality)
Papillary mucinous cystadenoma NOS (morphologic abnormality)
obsolete adult mesoblastic nephroma
A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants.
dysembryoplastic neuroepithelial tumor
Dysembryoplastic Neuroepithelial neoplasm
dysembryoplastic neuroepithelial tumour
liver angiosarcoma
An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver.
angiosarcoma of liver
hemangiosarcoma of the Liver
liver cancer
A hepatobiliary system cancer that is located_in the liver.
Ca liver - primary
Resectable malignant neoplasm of Liver
hepatic cancer
hepatic neoplasm
malignant hepato-biliary neoplasm
malignant neoplasm of liver
malignant neoplasm of liver, not specified as primary or secondary
malignant neoplasm of liver, primary
malignant tumor of liver
neoplasm of liver
non-resectable primary hepatic malignant neoplasm
primary liver cancer
primary malignant neoplasm of liver
resectable malignant neoplasm of the liver
obsolete pediatric central nervous system tumor
pediatric neoplasm of CNS
obsolete nevus
Mole NOS
Mole of skin
nevus
nevus (disorder)
nevus, NOS
skin mole, NOS
intracystic papillary adenoma
Intracystic papilloma
adenofibroma
A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
ossifying fibromyxoid tumor
Ossifying Fibromyxoma
ossifying fibromyxoid tumour
skin sarcoma
A sarcoma that is located_in the skin.
Cutaneous sarcoma
lymphangiosarcoma
A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
Lymphangiosarcoma of Stewart and Treves
Stewart-Treves syndrome
malignant Lymphangioendothelioma
skin lymphangiosarcoma
myoma
A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
benign neoplasm of the Muscle
muscle benign neoplasm
Myomatous neoplasm
Myomatous tumor
muscle neoplasm
muscle tissue neoplasm
neoplasm of muscle
Leydig cell tumor
A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
Leydig cell neoplasm
renal adenoma
renal cell adenoma
nephrogenic adenofibroma
Metanephric adenofibroma
obsolete sinonasal papilloma
Schneiderian papilloma
liver sarcoma
A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
hepatic sarcoma
mucinous adenofibroma
An adenofibroma that is characterized by the presence of mucin.
nodular tenosynovitis
Synovioma, benign
benign synovioma
benign tumor of Synovium
localized Giant cell tumor of Tenosynovium
pigmented villonodular synovitis
Diffuse Giant cell tumor of Tenosynovium
villous tenosynovitis
malignant giant cell tumor of the tendon sheath
Giant cell tumour of tendon sheath, malignant
malignant Giant cell neoplasm of the Tendon Sheath
synovium cancer
malignant tumor of Synovium
malignant giant cell tumor
malignant Giant cell neoplasm
malignant tumor, giant cell type
mushroom workers' lung
An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.
hemangioma of liver
Angioma of Liver
hepatic angioma
sick building syndrome
An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.
phimosis
Tight foreskin
Tight frenulum
Bloom syndrome
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Bloom-Torre-Machacek syndrome
Congenital Telangiectatic Erythema syndrome
hemopneumothorax
A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.
haemopneumothorax
obsolete port-wine stain
Cavernous naevus
Naevus flammeus
Port Wine type hemangioma
capillary hemangioma
A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
Capillary haemangioma
Congenital vascular hamartoma
Congenital vascular naevus
Infantile hemangioma
Juvenile hemangioma
Strawberry haemangioma
Strawberry nevus
Strawberry nevus of skin
cellular hemangioma of Infancy
obsolete acne nevus
Pilosebaceous Nevoid disorder
nevus comedonicus (disorder)
obsolete Pilosebaceous hamartoma
epidermolysis bullosa
A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
acantholysis bullosa
vesiculobullous skin disease
A bullous skin disease that is characterized by fluid filled blisters.
Rothmund-Thomson syndrome
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
Congenital poikiloderma
RTS
skin atrophy
Atrophoderma
Atrophy - skin
atrophic condition of skin
keratosis follicularis
DARIER-WHITE DISEASE
Darier's disease
Hajdu-Cheney syndrome
A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
Cheney syndrome
HJCYS
SFPKS
acroosteolysis with osteoporosis and changes in skull and mandible
arthrodentoosteodysplasia
serpentine fibula-polycystic kidney syndrome
obsolete Witkop-Von Sallmann disease
Hereditary benign intraepithelial dyskeratosis
Hereditary benign intraepithelial dyskeratosis (disorder)
pseudoxanthoma elasticum
A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Gronblad-Strandberg syndrome
Gilbert syndrome
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
Constitutional hyperbilirubinemia
Gilbert's disease
Gilbert's syndrome
Gilbert-Meulengracht syndrome
hereditary nonhemolytic jaundice
pyeloureteritis cystica
narcissistic personality disorder
A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
glycogen storage disease V
A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
Glycogen storage disease 5
Glycogen storage disease, type V
McArdle's disease
glycogen storage disease type V
myophosphorylase deficiency
glycogen storage disease III
A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
Glycogen storage disease 3
Glycogen storage disease, type III
amylo 1,6 glucosidase deficiency
deficiency of debranching enzyme
deficiency of dextrin
glycogen storage disease IIIa
glycogen storage disease IIIb
glycogen storage disease Ia
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
gastric hemangioma
hemangioma of stomach
glycogen storage disease IV
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
Amylopectinosis
Branching-transferase deficiency glycogenosis
Glycogen storage disease 4
Glycogen storage disease, type IV
brancher deficiency glycogenosis
deficiency of 1,4-alpha-glucan branching enzyme
glycogen storage disease VIII
A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
Glycogen storage disease 8
glycogen storage disease type VIII
glycogenosis type VIII
hepatic glycogen phosphorylase kinase deficiency
glycogen storage disease II
A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.
Generalized glycogenosis
Glycogen storage disease 2
Glycogen storage disease, type II
Glycogenosis, type 2
Lysosomal alpha-1,4-glucosidase deficiency
Pompe disease
Pompe's disease
acid maltase deficiency
deficiency of glucoamylase
deficiency of maltase
glycogen storage disease type II
obsolete nervous system lysosomal storage disease
glycogen storage disease VI
A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
Glycogen storage disease 6
Hers' disease
glycogen storage disease type VI
hepatic glycogen phosphorylase deficiency
hepatophosphorylase deficiency glycogenosis
Mycobacterium avium complex disease
A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.
Infection due to Mycobacterium intracellulare
MAC disease
Mycobacterium Avium Infection
Mycobacterium avium Complex
obsolete paratuberculosis
Infection due to Mycobacterium paratuberculosis (disorder)
Johne's disease (disorder)
obsolete Mycobacterium infectious disease
Infection due to mycobacteria
Mycobacterial Infection
Mycobacterial disease
Mycobacterial disease NOS (disorder)
Mycobacterium infection, unspecified (disorder)
Unspecified disease due to mycobacteria
ethmoid sinus squamous cell carcinoma
A squamous cell carcinoma that is located_in the ethmoid sinus.
Epidermoid carcinoma of the ethmoidal sinus
ethmoid sinus adenoid cystic carcinoma
adenoid cystic carcinoma of the ethmoid sinus
adenoid cystic carcinoma of ethmoid sinus
ethmoid sinus adenocarcinoma
An ethmoid sinus cancer that derives from epithelial cells of glandular origin.
adenocarcinoma of the ethmoid sinus
adenocarcinoma of ethmoid sinus
transient tic disorder
A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
chorioangioma
Placental hemangioma
obsolete diaper rash
Diaper or napkin erythema
Diaper or napkin rash
Diaper rash (disorder)
Irritant contact dermatitis due to contact with urine and/or faeces
Jacquet's dermatitis
obsolete atopic dermatitis and related conditions
irritant dermatitis
A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
irritant contact dermatitis
primary irritant dermatitis
contact dermatitis
Contact dermatitis/eczema
Contact eczema
Dermatitis, venenata
dermatitis venenata
long bone adamantinoma
An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation.
adamantinoma
A bone cancer that is located_in almost exclusively in the long bones.
adamantinoma of long bones
obsolete malignant neoplasm of short bones of upper limb
malignant neoplasm of short bone of upper limb
obsolete tumors of body of uterus, with delivery
obsolete tumors of body of uterus complicating pregnancy, childbirth, or the puerperium
rectosigmoid junction neoplasm
Rectosigmoid tumor
neoplasm of rectosigmoid junction
rectosigmoid neoplasm
rectosigmoid cancer
rectosigmoid junction cancer
malignant Rectosigmoid tumor
malignant neoplasm of rectosigmoid
malignant neoplasm of rectosigmoid junction
malignant tumor of rectosigmoid junction
lung sarcoma
A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
pulmonary sarcoma
Dandy-Walker syndrome
A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
Atresia of foramina of Magendie and Luschka
obsolete Ciliophora infectious disease
An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia.
necatoriasis
A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
obsolete hookworm infectious disease
A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria.
ancylostomiasis and necatoriasis
bronchiolitis obliterans
A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
Bronchiolitis exudativa
Bronchiolitis fibrosa obliterans
Obliterative bronchiolitis
obsolete ear tuberculosis
tuberculosis of ear
acute interstitial pneumonia
A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
AIP
Hamman-Rich disease
Hamman-Rich syndrome
Idiopathic pulmonary fibrosis, acute fatal form
accelerated interstitial pneumonia
acute interstitial pneumonitis
nonspecific interstitial pneumonia
An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur.
NSIP
obsolete primary Bartonellaceae infectious disease
middle lobe syndrome
A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection.
malignant neoplasm of acoustic nerve
malignant tumor of acoustic vestibular nerve
malignant tumor of the Vestibulocochlear nerve
malignant tumour of acoustic vestibular nerve
auditory system cancer
An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.
malignant oculomotor nerve tumor
IIIrd Cranial nerve neoplasm, malignant
primary malignant neoplasm of oculomotor nerve
cranial nerve III tumor
Oculomotor nerve tumor
Oculomotor nerve tumour
cranial nerve III tumour
neoplasm of oculomotor nerve
acalculous cholecystitis
A cholecystitis characterized by the absence of gallstones.
acute acalculous cholecystitis
acute cholecystitis without calculus
cholecystitis without calculus
obsolete leukemic reticuloendotheliosis of intra-abdominal lymph nodes
Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes
Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder)
Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder)
geotrichosis
An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people.
dehydration polycythemia
acquired polycythemia
Polycythemia, secondary
secondary polycythemia
polycythemia due to hypoxia
stress polycythemia
Gaisbock's syndrome
Polycythemia, emotional
erythropoietin polycythemia
Nephrogenous polycythemia
Polycythaemia due to Excess Erythropoetin Production
Polycythemia due to excess erythopoetin production
Polycythemia, nephrogenous
secondary polycythemia with excess erythropoietin
obsolete malignant neoplasm of abdomen
malignant tumor of abdomen (disorder)
Jervell-Lange Nielsen syndrome
Jervell and Lange-Nielson syndrome
bruxism
A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
Bruxism - teeth grinding
Grinding teeth
Teeth grinding
sleep related bruxism
obsolete melancholia
hairy cell leukemia
A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.
obsolete atrophy of thyroid
Hypoplasia of thyroid (disorder)
Hypoplasia of thyroid (disorder) [Ambiguous]
Thyroid Atrophy
Thyroid atrophy (disorder)
euthyroid sick syndrome
Sick-euthyroid syndrome
obsolete abscess of thyroid
Thyroid gland abscess
abscess of thyroid (disorder)
hemoglobin C disease
Hb-C disease
obsolete vision disorder
visual disorder
endometrial adenocarcinoma
An endometrial carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of endometrium
adenocarcinoma of the Endometrium
adenocarcinoma of uterus
endometrial adenoacanthoma
endometrial endometrioid adenocarcinoma
endometrial endometrioid adenocarcinoma with squamous differentiation
endometrioid adenoma or carcinoma
endometrioid adenomas and carcinomas
endometrioid carcinoma of Endometrium
endometrial carcinoma
A endometrial cancer that is located_in the tissue lining the uterus.
carcinoma of the Endometrium
endometrioid carcinoma
endometrioid carcinoma of female Reproductive system
obsolete metastatic tumor to the larynx
obsolete metastasis to the neck
metastatic tumor to the neck
laryngeal squamous cell carcinoma
A laryngeal carcinoma that has_material_basis_in squamous cells.
Epidermoid carcinoma of the Larynx
squamous cell carcinoma of larynx
larynx sarcoma
A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
sarcoma of larynx
obsolete throat carcinoma
nodular degeneration of cornea
endometriosis of uterus
A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium.
Endometriosis interna
Endometriosis of myometrium
Endometriosis, myometrium
adenomyosis
uterine Adenomyosis
obsolete Hantavirus infectious disease
A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema.
obsolete Cysts of iris, ciliary body and anterior chamber
Cysts of iris, ciliary body and anterior chamber (disorder)
Cysts of iris, ciliary body and anterior chamber NOS (disorder)
Cysts of iris, ciliary body, and anterior chamber
prostatic adenoma
A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
adenoma - prostate
adenoma of prostate
benign adenoma of prostate
prostate adenoma
benign prostate phyllodes tumor
Phyllodes neoplasm of the prostate
benign Phyllodes neoplasm of the prostate
benign prostate phyllodes tumour
prostate phyllodes tumor
prostate phyllodes tumour
prostate leiomyoma
A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate.
Prostatic leiomyoma
obsolete primary Klebsiella infectious disease
thyroid adenoma
An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
adenoma of thyroid gland
exocervical carcinoma
A cervix carcinoma that is located_in the exocervix.
carcinoma of exocervix
carcinoma of the Exocervix
cervix carcinoma
A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of cervix
carcinoma cervix uteri
carcinoma of cervix
carcinoma of the Cervix Uteri
cervical cancer
A female reproductive organ cancer that is located_in the cervix.
cervical neoplasm
cervix cancer
cervix uteri cancer
neoplasm of uterine cervix
tumor of the Cervix Uteri
uterine cervical neoplasm
obsolete commensal streptococcal infectious disease
Streptococcal infection, unspecified (disorder)
Streptococcal infectious disease (disorder)
Streptococcus infection
obsolete commensal Escherichia coli infectious disease
E Coli Infection
Escherichia coli infection
Infection due to Escherichia coli (disorder)
obsolete Rhabditida infectious disease
A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips.
Goldenhar syndrome
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
Facio-auriculo-vertebral spectrum
First AND second branchial arch syndrome
First arch syndrome
HEMIFACIAL MICROSOMIA
OAV (oculoauriculovertebral) dysplasia
Otomandibular dysostosis
obsolete septic abortion
Septic abortion (disorder)
abortion with sepsis
cryoglobulinemia
A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
Cryoimmunoglobulinaemia
obsolete paraproteinemia
A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood.
Paraproteinaemia
Paraproteinemia
Paraproteinemia (disorder)
Paraproteinemia NOS (disorder)
paraproteinemia
membranoproliferative glomerulonephritis
Lobular glomerulonephritis
chronic glomerulonephritis, lobular
Klippel-Trenaunay syndrome
A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Haemangiectatic hypertrophy
Klippel-Trenaunay-Weber syndrome
angioosteohypertrophy syndrome
Newcastle disease
A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus (Orthoavulavirus javaense), which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
Newcastle's disease
Pseudo-fowlpest
lacrimal gland carcinoma
carcinoma of the lacrimal gland
lacrimal gland cancer
malignant neoplasm of lacrimal gland
malignant tumour of lacrimal gland
neoplasm of lacrimal gland
tumor of the lacrimal gland
obsolete Avulavirus infectious disease
A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes.
aleutian mink disease
A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease parvovirus (Amdoparvovirus carnivoran1, Amdoparvovirus carnivoran9, or Amdoparvovirus carnivoran10). The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia.
Aleutian disease
Chediak-Higashi syndrome
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
CHS
Chediak - Steinbrinck anomaly
obsolete Parvoviridae infectious disease
A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses.
obsolete Human herpesvirus 8 infectious disease
A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8.
obsolete Herpesviridae infectious disease
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses.
Herpesviridae disease
Herpesvirus infection (disorder)
bronchiolitis
A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
obsolete Poxviridae infectious disease
A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses.
Poxviridae disease
disease due to unassigned Poxviridae (disorder)
severe acute respiratory syndrome
A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
SARS
SARS-CoV infection
obsolete coronavirus infectious disease
A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.
obsolete Yellow fever virus infectious disease
A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness.
obsolete Coronaviridae infectious disease
A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.
obsolete Nidovirales infectious disease
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses.
eye carcinoma
An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye.
Ocular carcinoma
carcinoma of eye
obsolete Orbivirus infectious disease
A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks.
motion sickness
Travel Sickness
obsolete intra-abdominal lymphangioma
pulmonary tuberculosis
A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.
obsolete environmental illness
mixed lacrimal gland cancer
carcinoma Ex Pleomorphic adenoma of the lacrimal gland
carcinoma ex pleomorphic adenoma of lacrimal gland
malignant mixed neoplasm of lacrimal gland
obsolete DNA repair deficiency
A monogenic disease that results from a reduced functionality of DNA repair.
DNA Repair disorder
deficiency of DNA repair (finding)
pleomorphic adenoma carcinoma
carcinoma ex pleomorphic adenoma
carcinoma in pleomorphic adenoma
renal artery obstruction
kidney cortex necrosis
A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury.
renal cortical necrosis
obsolete multicystic dysplastic kidney
Multicystic dysplastic kidney
Multicystic kidney
Multicystic kidney (disorder)
obsolete glomerular vascular disorder
lacrimal gland adenocarcinoma
A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of lacrimal gland
obsolete bone marrow tansplantation nephropathy
kidney papillary necrosis
Necrotizing renal papillitis
Papillary necrosis
renal PAPILLITIS NECROTIZING
perinephritis
anuria
Suppression of urinary secretion
obsolete chronic rejection of renal transplant
chronic rejection of renal transplant (disorder)
IgA glomerulonephritis
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
Berger's IgA or IgG nephropathy
Focal Glomerulonephritis
IgA nephropathy
primary IgA nephropathy
segmental glomerulonephritis
familial Mediterranean fever
An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
FMF
benign paroxysmal peritonitis
antiphospholipid syndrome
An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
APS
antiphospholipid antibody syndrome
obsolete Atypical small acinar proliferation of the prostate gland
Prostatic Atypical small acinar Proliferation
obsolete tumor of specialized prostatic stroma
obsolete stromal neoplasm
Stromal tumor (morphologic abnormality)
stromal tumors
prostate neuroendocrine neoplasm
neuroendocrine tumor of the prostate
obsolete ovarian mixed germ cell-sex cord neoplasm
Ovarian mixed germ cell-Sex Cord tumor
mixed germ cell-sex cord neoplasm
mixed germ cell-Sex Cord tumor
mixed germ cell-sex cord-stromal tumor
Sertoli-Leydig cell tumor
A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles.
granulosa cell tumor
A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
Granulosa cell neoplasm
Granulosa cell tumor, adult type
Granulosa cell tumour, sarcomatoid
malignant granulosa cell neoplasm
obsolete disease by environmental exposure
A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents.
environmentally induced disease
female reproductive endometrioid cancer
A female reproductive organ cancer that is characterized by a resemblance to endometrium.
endometrioid neoplasm
endometrioid tumor
female reproductive endometrioid neoplasm
ovary neuroendocrine neoplasm
An ovarian cancer that has_material_basis_in nuroendocrine cells.
neuroendocrine tumor of Ovary
nipple benign neoplasm
A breast benign neoplasm that is located_in the nipple.
tumor of Nipple
breast ductal carcinoma
A breast carcinoma that derives_from the lining of milk ducts.
duct carcinoma
invasive ductal carcinoma
A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.
Infiltrating ductal carcinoma of breast
Invasive ductal carcinoma, NST
ductal adenocarcinoma
breast neuroendocrine neoplasm
A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system.
neuroendocrine tumor of the breast
lobular neoplasia
A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
Lobular Intraepithelial Neoplasia
lobular carcinoma in situ
breast granular cell tumor
A breast cancer that is believed to arises_from Schwann cells.
obsolete breast papillary neoplasm
Papillary tumor of breast
breast malignant phyllodes tumor
A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
Phyllodes breast neoplasm
Phyllodes tumor, malignant
breast malignant phyllodes tumour
malignant Mammary Phyllodes tumor
malignant Mammary Phyllodes tumour
malignant Phyllodes neoplasm
malignant cystosarcoma phyllodes
malignant phyllodes tumor
malignant phyllodes tumor of breast
malignant phyllodes tumour
malignant phyllodes tumour of breast
phyllodes breast tumor
phyllodes breast tumour
breast sarcoma
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
sarcoma of breast
obsolete postpartum acute renal failure
obsolete Complication of labor and/or delivery
obsolete complication of the puerperium
prostatic acinar adenocarcinoma
acinar cell carcinoma
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
acinic cell carcinoma
obsolete metastatic prostatic adenocarcinoma
obsolete metastatic adenocarcinoma
adenocarcinoma, metastatic (morphologic abnormality)
adenocarcinoma, metastatic, NOS (morphologic abnormality)
obsolete intramucosal adenocarcinoma colon adenoma
Colonic adenoma with Intramucosal adenocarcinoma
adenoma of colon with intramucosal adenocarcinoma
colon mucinous adenocarcinoma
Colonic mucinous adenocarcinoma
colon signet ring adenocarcinoma
Colonic Signet Ring adenocarcinoma
submucosal invasive colon adenocarcinoma
cecum adenocarcinoma
A cecum carcinoma that derives_from epithelial cells of glandular origin.
Cecal adenocarcinoma
Wissler-Fanconi syndrome
A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease.
Wissler's subsepsis allergica
Wissler's syndrome
Churg-Strauss syndrome
A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
Allergic Granulomatous Angiitis
Allergic granulomatosis angiitis
Churg-Strauss vasculitis
allergic rhinitis
A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
Non-seasonal allergic rhinitis
Perenial allergic rhinitis
atopic rhinitis
hay fever
pollenosis
seasonal allergic rhinitis
Balkan nephropathy
An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.
Balkan endemic nephropathy
DEFN
Danubian endemic familial nephropathy
paratyphoid fever
A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
Paratyphoid
Paratyphoid A fever
Paratyphoid B fever
Paratyphoid C fever
Paratyphoid fever A
Paratyphoid fever B
Paratyphoid fever C
paratyphoid a
paratyphoid b
paratyphoid c
obsolete Paramyxoviridae infectious disease
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses.
obsolete dyskinetic syndrome
Dyskinesia
obsolete taste disorder
disorder of taste (disorder)
taste disorder
gliosarcoma
A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
Glioblastoma with sarcomatous component
obsolete secondary glioblastoma multiforme
brain glioblastoma multiforme
A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems.
Glioblastoma multiforme of brain
brain Glioblastoma
giant cell glioblastoma
A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.
Monstrocellular sarcoma
adult astrocytic tumor
A malignant astrocytoma that occurs during adulthood.
adult astrocytic tumour
adult astrocytoma
obsolete anaplastic childhood astrocytoma
Undifferentiated pediatric astrocytoma
pediatric Glioblastoma Multiforme
childhood astrocytic tumor
juvenile astrocytoma
pediatric astrocytoma
early myoclonic encephalopathy
Epileptic seizures - myoclonic
Epileptic seizures, myoclonic
Myoclonic seizure
Myoclonic seizure disorder
myoclonia epileptica
myoclonic epilepsy
cystic lymphangioma
cystic Hygroma
chronic obstructive pulmonary disease
An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.
COLD
COPD
chronic obstructive airway disease
chronic obstructive lung disease
granulomatous orchitis
Non-Specific Granulomatous Orchitis
obsolete testicular non-neoplastic disease
Acinetobacter infectious disease
An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter.
obsolete opportunistic Moraxellaceae infectious disease
obsolete neuroepithelial neoplasm
tumor of Neuroepithelium
germ cell and embryonal cancer
A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells.
germ cell and embryonal neoplasm
stenosis of lacrimal sac
obsolete stenosis and insufficiency of lacrimal passage
Stenosis and insufficiency of lacrimal passages (disorder)
Stenosis and insufficiency of lacrimal passages NOS (disorder)
Stenosis of lacrimal passages
MERRF syndrome
Fukuhara syndrome
Myoclonic epilepsy - ragged red fibers
Myoclonus epilepsy AND ragged red fibers
Myoclonus with epilepsy and with Ragged Red Fibers
mitochondrial encephalomyopathy
obsolete Ureaplasma urealyticum urethritis
obsolete primary Mycoplasmatales infectious disease
obsolete cervical rib syndrome
Arterial thoracic outlet syndrome due to cervical rib
thoracic outlet syndrome
A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles.
TOS - Thoracic outlet syndrome
obsolete Nematoda infectious disease
A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms.
Nematode infection
Roundworm
Roundworm infection
creeping eruption
larva migrans
toxascariasis
A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite.
ascaridiasis
A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.
idiopathic CD4-positive T-lymphocytopenia
A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
lymphopenia
A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
Lymphocytopenia
papillary cystadenocarcinoma
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
cystadenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
malignant cystadenoma
papillary carcinoma
A carcinoma that is derives_from epithelial cells with finger like projections.
serous cystadenocarcinoma
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
serous adenocarcinoma
serous carcinoma
obsolete urinary tract transitional cell cancer
transitional cell neoplasm of the urinary tract
hepatobiliary disease
A gastrointestinal system disease that is located_in the liver and/or biliary tract.
liver and biliary tract disease
tenosynovitis of foot and ankle
A tenosynovitis that is located in the foot and ankle.
gallbladder papillomatosis
A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue.
biliary tract cancer
A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
malignant tumour of biliary tract
proctitis
A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
ulcerative proctitis
obsolete synovitis and tenosynovitis
porphyria cutanea tarda
An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
scalp dermatosis
Dermatosis of scalp
obsolete multiple symmetrical lipomatosis
tenosynovial giant cell tumor
Giant cell tumor of Tenosynovium
Giant cell tumor of tendon sheath
Giant cell tumour of Tenosynovium
Giant cell tumour of tendon sheath
fibrous histiocytoma of tendon sheath
tenosynovial giant cell tumour
scleredema adultorum
A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.
Buschke's scleredema
mucinoses
A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue.
leg dermatosis
obsolete eczematous skin disease
Contact dermatitis and other eczema
Contact dermatitis and other eczema due to animal (cat) (dog) dander
Contact dermatitis and other eczema due to detergents
Contact dermatitis and other eczema due to drugs and medicines in contact with skin
Contact dermatitis and other eczema due to food in contact with skin
Contact dermatitis and other eczema due to oils and greases
Contact dermatitis and other eczema due to other chemical products
Contact dermatitis and other eczema due to other specified agents
Contact dermatitis and other eczema due to plants
Contact dermatitis and other eczema due to plants [except food]
Contact dermatitis and other eczema due to solvents
Contact dermatitis and other eczema, unspecified cause
Contact dermatitis and other eczemas
Contact dermatitis and other eczemas (disorder)
Contact dermatitis due to cosmetics
Contact dermatitis due to cosmetics (disorder)
Contact dermatitis due to metal (disorder)
Contact dermatitis due to metals
Contact dermatitis due to metals (disorder)
Contact dermatitis: metals
Dermatitis due to cosmetics
Dermatitis due to metals
Dermatitis due to other radiation
Dermatitis due to other radiation NOS
hyperlipoproteinemia type III
A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
Remnant hyperlipidemia
carbohydrate induced hyperlipemia
familial hypercholesterolaemia with hyperlipaemia
familial type 3 hyperlipoproteinemia
dermal unilateral segmental cavernous angioma
Unilateral Segmental Cavernous hemangioma of the skin
Unilateral segmental cavernous hemangioma
keratoacanthoma
skin squamous cell carcinoma
A skin carcinoma that has_material_basis_in squamous cells.
Cutaneous Squamous Cell Carcinoma
Epidermoid skin carcinoma
squamous cell carcinoma of skin
synovium neoplasm
Synovial neoplasm
tumor of Synovium
hypomelanosis of Ito
A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
Bloch-Siemans syndrome
Incontinentia pigmenti achromians syndrome
Ito's nevus
incontinentia pigmenti achromians
nevus of Ito
obsolete congenital melanocytic nevus
Congenital Pigmented skin nevus
Congenital melanocytic naevus of skin
Congenital melanocytic nevus (disorder)
Congenital melanocytic nevus (morphologic abnormality)
Congenital pigmented melanocytic naevus
Congenital pigmented melanocytic naevus of skin
hand dermatosis
photosensitivity disease
Photodermatitis
malignant spindle cell melanoma
A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.
Spitzoid malignant melanoma
spindle cell malignant melanoma
spindle cell melanoma
desmoplastic melanoma
obsolete spindle cell cancer
A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells.
malignant spindle cell tumor
malignant tumor, fusiform cell type (morphologic abnormality)
obsolete Hair nevus
Hair nevus (disorder)
Hairy naevus
Hairy naevus NOS
Hairy nevus NOS (morphologic abnormality)
Nevoid hypertrichosis
This is not a disease. A leukemoid reaction is an increase in the white blood cell count, which can mimic leukemia. The reaction is actually due to an infection or another disease and is not a sign of cancer. Blood counts often return to normal when the underlying condition is treated.
obsolete leukemoid reaction
transient myeloproliferative disorder
obsolete papillary epithelial neoplasm
obsolete respiratory tract papilloma
papilloma of the respiratory tract
papillary adenoma
glandular papilloma
fallopian tube serous papilloma
A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth.
verrucous papilloma
skin papilloma
A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.
cutaneous papilloma
papilloma of skin
inverted papilloma
Inverted papilloma, squamous cell
progressive muscular atrophy
Pure progressive muscular atrophy
progressive spinal muscular atrophy
childhood oligodendroglioma
pediatric Oligodendroglioma
spinal cord oligodendroglioma
Oligodendroglioma of spinal cord
Well differentiated Spinal Cord Oligodendroglioma
spinal cord glioma
A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
Glial neoplasm Spinal Cord
Glial tumor of spinal cord
glioma of spinal cord
adult oligodendroglioma
adult brain oligodendroglioma
grade II adult Oligodendroglial tumor
peripheral nerve sheath neoplasm
A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves.
neoplasm of the nerve Sheath
nerve sheath tumour
cellular schwannoma
A neurilemmoma with a predominantly cellular growth but no Verocay bodies.
cellular Neurinoma
schwannoma of twelfth cranial nerve
A neurilemmoma that is located_in the 12th cranial nerve.
Hypoglossal Schwannoma
hypoglossal nerve neoplasm
neoplasm of hypoglossal nerve
tumor of Hypoglossal nerve
C-P angle neurinoma
Cerebellopontine Angle Neurinoma
cerebellopontine angle tumor
A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle.
cerebellopontine angle tumour
neoplasm of the Cerebellopontine Angle
vascular myelopathy
vascular myelopathies
sympathetic neurilemmoma
neurilemmoma of the fifth cranial nerve
Trigeminal Neurilemmoma
Trigeminal schwannoma
macrocystic neurilemmoma
melanotic neurilemmoma
Melanotic Schwannoma
Pigmented Neurilemmoma
Pigmented schwannoma
plexiform schwannoma
Plexiform Neurinoma
Plexiform neurilemmoma
obsolete sensation disorder
HTLV-1-associated myelopathy/tropical spastic paraparesis
A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.
HAM/TSP
HTLV-associated myelopathy
Tropical spastic paralysis
Tropical spastic paraplegia
tropical spastic paraparesis
Pelizaeus-Merzbacher disease
A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
HLD1
Leukodystrophy, sudanophilic
PMD
Pelizaeus Merzbacher brain sclerosis
Pelizaeus-Merzbacher brain sclerosis
diffuse familial brain sclerosis
hypomyelinating leukodystrophy 1
sudanophilic leukodystrophy, Paelizeus-Merzbacher type
obsolete hereditary central nervous system demyelinating disease
obsolete infectious bovine rhinotracheitis
A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis.
Infectious bovine rhinotracheitis (disorder)
jejunal somatostatinoma
Somatosatinoma of Jejunum
jejunal delta cell somatostatin producing tumor
obsolete small intestinal delta cell somatostatin producing tumor
jejunal neoplasm
Jejunal tumor
neoplasm of jejunum
tumor of jejunum
causalgia
Complex regional pain syndrome, type II
tracheal stenosis
Stenosis of trachea
gastric dilatation
stomach dilatation
obsolete Human T-lymphotropic virus 1 infectious disease
A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.
HTLV-1 infectious disease
HTLV-I infectious disease
high pressure neurological syndrome
obsolete occupational disease
occupational disorder
central nervous system lymphoma
A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
Microglioma
primary CNS lymphoma
obsolete pigmented spindle cell nevus
spindle cell nevus
spindle cell nevus (disorder)
spindle cell nevus (morphologic abnormality)
spindle cell nevus of Reed
aspiration pneumonitis
A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
Chemical pneumonitis
Mendelson's Syndrome
lipid pneumonia
An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent.
Exogenous lipoid pneumonia
Lipoid pneumonitis
skeletal muscle cancer
malignant tumor of Skeletal Muscle
pleomorphic rhabdomyosarcoma
Pleomorphic rhabdomyosarcoma, adult type
anaplastic Rhabdomyosarcoma
prostate embryonal rhabdomyosarcoma
A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone.
Embryonal Rhabdomyosarcoma of the prostate
prostate rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
Rhabdomyosarcoma of the prostate
prostate sarcoma
A prostate cancer that is located_in the prostate.
sarcoma of the prostate
embryonal extrahepatic bile duct rhabdomyosarcoma
bile duct rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct.
rhabdomyosarcoma of the bile duct
botryoid rhabdomyosarcoma
Botryoid sarcoma
Botryoid-type Embryonal Rhabdomyosarcoma
sarcoma botryoides
obsolete embryonal childhood rhabdomyosarcoma
pediatric Embryonal Rhabdomyosarcoma
obsolete pediatric rhabdomyosarcoma
orbit embryonal rhabdomyosarcoma
An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.
Embryonal Rhabdomyosarcoma of the orbit
orbit rhabdomyosarcoma
An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children.
Rhabdomyosarcoma of orbit
Rhabdomyosarcoma of the orbit
orbit sarcoma
An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm.
orbital sarcoma
spindle cell rhabdomyosarcoma
A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.
Sclerosing rhabdomyosarcoma
Spindle Cell/Sclerosing Rhabdomyosarcoma
Synonym Rhabdomyosarcoma, spindle cell/sclerosing type
nomenclature update Oct 2024 [LS]. nomenclature update Nov 2025 [claudiasbj].
autosomal dominant hyper-IgE syndrome 1 with recurrent infections
A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
Job syndrome
Job's syndrome
STAT3 Hyper IgE syndrome
hyper IgE recurrent infection syndrome 1
hyperimmunoglobulin E syndrome
This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
piebaldism
An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.
PIEBALD TRAIT
Partial albinism
subacute leukemia
A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.
mucinous ovarian cystadenoma
An ovarian cystadenoma that is characterized by the presence of mucin.
Ovarian mucinous Cystadenoma
mucinous cystadenoma of ovary
ovarian cystadenoma
An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
Cystoma Serosum simplex
simple cystoma of ovary
simple cystoma of the ovary
syringomyelia
proliferative type fibrocystic change of breast
A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
Fibrocystic change, proliferative type with atypia
Fibrocystic disease, Proliferative type with Atypia
Proliferating Lesion of breast without Atypia
Proliferating Lesion of the breast without Atypia
Proliferative Fibrocystic Change
thymoma
A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
obsolete thymus epithelial cancer
Thymic Epithelium neoplasm
Thymic epithelial neoplasm (morphologic abnormality)
epithelial neoplasm of thymus
encapsulated thymoma
spindle cell thymoma
Medullary Thymoma
Thymoma, medullary
mixed type thymoma
Thymoma, mixed type
combined thymoma
thymoma type B
A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia.
dendritic cell thymoma
epithelioid Thymoma
invasive malignant thymoma
Infiltrating Thymoma
Thymoma malignant Invasive
thymic carcinoma
A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
Thymoma, malignant
malignant Thymoma
November 2022 WHO name update.
mpox
A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy.
monkeypox
obsolete lumpy skin disease
A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy.
obsolete fowlpox
A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts.
obsolete infectious ectromelia
A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin.
Mousepox (disorder)
obsolete infectious myxomatosis
A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties.
vaccinia
A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus (Orthopoxvirus vaccinia), which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches.
obsolete Yersinia pseudotuberculosis infectious disease
Pasteurella pseudotuberculosis infection
Pseudotuberculosis
Pseudotuberculosis (disorder)
obsolete Yersinia infectious disease
Yersiniosis (disorder)
Yersiniosis [Ambiguous]
gonadoblastoma
A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).
notochordal cancer
An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
notochordal tumor
germinoma
A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
teratocarcinoma
A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
mixed Embryonal carcinoma and teratoma
embryonal carcinoma
An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
primary extragonadal embryonal carcinoma
embryonal cancer
A germ cell cancer that is associated with an embryo.
embryo neoplasm
embryonal neoplasm
neurodermatitis
A dermatitis that is characterized by chronic itching or scaling.
angiomyolipoma
A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.
hepatic angiomyolipoma
epithelioid type angiomyolipoma
Epithelioid angiomyolipoma
lymphangioleiomyomatosis
A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
lung lymphangioleiomyomatosis
lymphangiomyomatosis
pulmonary lymphangioleiomyomatosis
Tay-Sachs disease
A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
GM2 gangliosidosis, type 1
hexosaminidase A deficiency
GM2 gangliosidosis
A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
gangliosidosis GM2
Sandhoff disease
A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
Sandhoff Jatzkewitz disease
hyperglobulinemic purpura
partial motor epilepsy
Focal motor seizure
epilepsy, focal motor
benign epilepsy with centrotemporal spikes
A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves.
BCECTS
benign Rolandic epilepsy
benign childhood epilepsy with centrotemporal spike
rolandic epilepsy
sylvan seizures
obsolete chronic factitious illness with physical symptoms
partial sensory epilepsy
haemonchiasis
A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue.
histrionic personality disorder
A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.
obsolete lymphangioendothelioma
Lymphangioendothelioma, NOS
lymphangioendothelioma
osteitis fibrosa
A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
Osteitis fibrosa cystica generalisata
Von Recklinghausen's bone disease
hyperparathyroid bone disease
glycoproteinosis
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Mucolipidosis type I
sialidosis
xanthomatosis
A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
xanthelasmatosis
osteosarcoma
A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
Osteogenic sarcoma
Skeletal sarcoma
bone tissue neoplasm
osteoid sarcoma
obsolete osteogenic neoplasm
Osteogenic tumor
bone angioendothelial sarcoma
osseous hemangiosarcoma
malignant fibrous histiocytoma of bone
malignant fibrous Histiocytoma of the bone
fibrosarcoma of bone
A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker.
malignant fibroxanthoma
malignant histiocytosis
fibrosarcoma
A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
Fibrocytic tumor
fibrosarcoma of soft tissue
fibrous tissue neoplasm
localized osteosarcoma
An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.
localised Osteogenic sarcoma
localised osteosarcoma
localized Osteogenic sarcoma
extraosseous osteosarcoma
An osteosarcoma arising from the soft tissue.
extraskeletal Osteogenic sarcoma
extraskeletal osteosarcoma
obsolete malignant extraskeletal cartilaginous and osseous tumor
obsolete non-traumatic tendon rupture
Nontraumatic rupture of extensor tendons of hand and wrist
Nontraumatic rupture of flexor tendons of hand and wrist
Nontraumatic rupture of quadriceps tendon
Nontraumatic rupture of tendons of biceps
Nontraumatic rupture of tendons of biceps (long head)
Nontraumatic rupture of tendons of biceps, long head
multifocal osteogenic sarcoma
childhood osteosarcoma
pediatric osteosarcoma
coronary aneurysm
Aneurysm of coronary vessels
Aneurysmal lesion of coronary artery
Arteriovenous aneurysm of coronary vessels
heart aneurysm
cardiac aneurysm
obsolete recurrent osteosarcoma
relapsed Osteosarcoma
bone leiomyosarcoma
Ewing sarcoma of bone
A peripheral primitive neuroectodermal tumor that is located_in bone.
Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor
bone Ewing sarcoma
bone localized Ewing sarcoma
bone localized Ewing's sarcoma
localized Skeletal Ewing's sarcoma
Ewing's sarcoma of bone
bone Ewing's sarcoma
spinal accessory nerve neoplasm
XIth Cranial nerve tumors
neoplasm of accessory nerve
chondroblastic osteosarcoma
chondrosarcomatous Osteogenic sarcoma
parosteal osteosarcoma
Parosteal Osteogenic sarcoma
juxtacortical osteosarcoma
peripheral osteosarcoma
Surface Osteosarcoma
bone osteosarcoma
An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.
Osteosarcoma of bone
primary Osteosarcoma of bone
small cell osteogenic sarcoma
Round cell osteosarcoma
small cell Osteosarcoma
conventional osteosarcoma
A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation.
Intracortical osteosarcoma
Medullary Osteosarcoma
conventional central osteosarcoma
intracortical osteogenic sarcoma
obsolete conventional central osteosarcoma
metachronous osteosarcoma of the bone
obsolete cranial nerve neoplasm
A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
neoplasm of cranial nerve
liposarcoma of bone
Liposarcoma of the bone
obsolete metastatic osteosarcoma
metastatic Osteogenic sarcoma
bacterial vaginosis
A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
Papillon-Lefevre disease
An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
Papillon Lefevre syndrome
Papillon-Lefvre syndrome
accessory nerve disease
A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).
Eleventh nerve disorder
disorder of 11th nerve
disorder of accessory [11th] nerve
disorder of accessory nerve
inappropriate ADH syndrome
A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH).
SIADH
syndrome of Inappropriate Antidiuretic Hormone Secretion
syndrome of inappropriate secretion of ADH
syndrome of inappropriate secretion of antidiuretic hormone
syndrome of inappropriate vasopressin secretion
obsolete ectopic hormone secretion syndrome associated with neoplasia
neoplasm associated Ectopic Hormone Secretion syndromes
obsolete hypergammaglobulinemia
hypergammaglobulinaemia
hypergammaglobulinemia (finding)
hypergammaglobulinemia [dup] (finding)
hypergammaglobulinemia, NOS
obsolete benign monoclonal gammopathy
BMH
benign Monoclonal Gammopathy
benign monoclonal gammopathy (disorder)
carotid artery thrombosis
intracranial thrombosis
cerebral thrombosis
obsolete infectious canine hepatitis
A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy.
alpha-mannosidosis
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
Alpha-D-mannosidosis
alpha-mannosidase deficiency
deficiency of alpha-mannosidase
obsolete mannosidase deficiency disease
Mannosidosis
Mannosidosis (disorder)
mannosidase deficiency
optic nerve neoplasm
Tumour of optic nerve
neoplasm of optic nerve
tumor of Second Cranial nerve
subclavian artery aneurysm
obsolete neoplasm of visual pathway
tumor of the visual pathway
trochlear nerve neoplasm
neoplasm of trochlear nerve
tumor of Trochlear nerve
Adding UMLS CUI for synonym.
granulomatous myositis
inclusion body myositis
A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
cerebritis
A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition.
viral laryngitis
A acute laryngitis which is caused by viral infection.
acute laryngitis
A laryngitis which lasts less than a few days.
obsolete disease of biological process
A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms.
mammary Paget's disease
A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
Paget cell neoplasm
Paget's disease
Paget's disease of the breast
mammary Paget disease
scrotum Paget's disease
Paget's disease of scrotum
scrotum Paget disease
anal Paget's disease
Paget's disease of anus
anal Paget disease
Paget's disease of the anus
anus adenocarcinoma
An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
adenocarcinoma of anus
adenocarcinoma of the anus
anal carcinoma
A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
Ca anus
carcinoma of anus
penis Paget's disease
Paget's disease of penis
penis Paget disease
penis carcinoma
A penile cancer that is located_in the skin or tissues of the penis.
Penile carcinoma
carcinoma of penis
cutaneous Paget's disease
A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
Paget's disease of skin
cutaneous Paget disease
extramammary Paget's disease
brain infarction
A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.
cervix erosion
A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix.
Erosion of cervix
invasive lobular carcinoma
A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
Lobular carcinoma
Lobular carcinoma of breast
Lobular carcinoma of the breast
obsolete breast hamartoma
obsolete hamartoma of skin appendage
hamartoma of skin appendage (disorder)
skin Appendage hamartoma
obsolete congenital nevus of skin
Congenital nevus of the skin
obsolete cartilaginous hamartoma
Cartilagenous hamartoma
cartilaginous hamartoma (morphologic abnormality)
obsolete mesenchymal hamartoma
mesenchymal hamartoma (morphologic abnormality)
obsolete hamartoma of central nervous system
hamartoma of the CNS
obsolete hamartoma of lung
hamartoma of lung (disorder)
pulmonary hamartoma
obsolete brain hamartoma
hamartoma of brain (disorder)
obsolete Lipomatous hamartoma
Lipomatous hamartoma
Lipomatous hamartoma (disorder)
iris cancer
malignant neoplasm of the Iris
malignant tumor of iris
tumor of the Iris
blepharochalasis
An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.
septicemic plague
A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs.
obsolete Oxyurida infectious disease
A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida.
necrobiosis lipoidica
obsolete metabolic skin disease
cellulitis
A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
systemic mastocytosis
SMCD - systemic mast cell disease
systemic tissue mast cell disease
mastocytosis
mast cell hyperplasia
Turner syndrome
A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
Bonnevie-Ullrich syndrome
Gonadal dysgenesis - Turner
Karyotype 45, X
Monosomy X
XO syndrome
monosomy X syndrome
mixed connective tissue disease
A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
Connective tissue disease overlap syndrome
mixed collagen vascular disease
signet ring cell adenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
Signet ring carcinoma
Signet ring cell carcinoma
bile duct signet ring cell carcinoma
bile duct carcinoma
A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
extrahepatic bile duct adenocarcinoma
An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of extrahepatic bile duct
adenocarcinoma of the extrahepatic bile duct
extrahepatic bile duct carcinoma
A cholangiocarcinoma that arises from the extrahepatic bile ducts.
carcinoma of extrahepatic bile duct
extrahepatic bile duct cancer
pancreatic signet ring cell adenocarcinoma
Signet Ring cell carcinoma of pancreas
pancreatic signet ring cell carcinoma
pancreatic ductal adenocarcinoma
A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
ductal adenocarcinoma of the pancreas
gallbladder signet ring cell adenocarcinoma
Signet Ring cell carcinoma of the gallbladder
gallbladder adenocarcinoma
A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the gallbladder
gallbladder carcinoma
A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of the gallbladder
carcinoma gallbladder
carcinoma of gallbladder
ampullary signet ring cell adenocarcinoma
ampullary signet ring cell carcinoma
ampulla of Vater adenocarcinoma
An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin.
ampullary adenocarcinoma
adenocarcinoma of ampulla of vater
ampulla of Vater carcinoma
An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
ampulla of vater cancer
ampullary carcinoma
carcinoma of ampulla of vater
breast signet ring cell adenocarcinoma
A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins.
Mammary Signet Ring cell carcinoma
signet ring cell carcinoma of breast
prostate signet ring cell adenocarcinoma
Signet Ring cell carcinoma of prostate
prostate signet ring cell carcinoma
MESH:C538219 added from NeuroDevNet [WAK].
dermatofibrosarcoma protuberans
A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.
stricture or kinking of ureter
neurofibrosarcoma
Neurosarcoma
adult fibrosarcoma
conventional fibrosarcoma
obsolete non-metastatic fibrosarcoma
childhood fibrosarcoma
pediatric fibrosarcoma
obsolete childhood soft tissue sarcoma
A sarcoma that affects children and is located_in the soft tissues of the body.
pediatric sarcoma of the soft tissue
lateral medullary syndrome
A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
Posterior inferior cerebellar artery syndrome
Wallenberg syndrome
brain stem infarction
A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal.
Brainstem infarction
middle cerebral artery infarction
cerebral infarction
A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
Cerebral infarct
anterior cerebral artery infarction
congenital myopathy 1A
A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.
autosomal dominant congenital myopathy 1A
central core disease
central core myopathy
chronic wasting disease
obsolete peste des petits ruminants infectious disease
A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate.
Goat plague
Ovine rinderpest
PPR
Pseudorinderpest
Stomatitis-Pneumoenteritis Syndrome
obsolete Morbillivirus infectious disease
A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus.
choroid plexus cancer
A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
tumor of choroid plexus
tumor of the Choroid Plexus
choroid plexus neoplasm
adult choroid plexus cancer
neoplasm of the adult Choroid Plexus
adult choroid plexus tumor
atypical choroid plexus papilloma
childhood choroid plexus cancer
childhood choroid plexus neoplasm
obsolete somatosensory disorder
mast-cell sarcoma
A sarcoma that has_material_basis_in mast cells.
superior mesenteric artery syndrome
A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.
Wilkie's syndrome
pseudomyxoma peritonei
An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
mucinous Ascites
obsolete intrathoracic lymph node mast cell malignancy
Mast cell malignancy of intrathoracic lymph nodes (disorder)
malignant mast cell tumors involving intrathoracic lymph nodes
obsolete viral hemorrhagic septicemia
A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens.
Egtved Disease
obsolete upper limb lymph node mast cell malignancy
Mast cell malignancy of lymph nodes of axilla and upper limb (disorder)
malignant mast cell tumors involving lymph nodes of axilla and upper limb
intracranial sinus thrombosis
lateral sinus thrombosis
Thrombosis of lateral venous sinus
Thrombosis transverse sinus
cavernous sinus thrombosis
Thrombosis of cavernous venous sinus
sagittal sinus thrombosis
Thrombosis of superior longitudinal sinus
Thrombosis of superior sagittal sinus
Sertoli cell tumor
A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
tubular androblastoma
ovarian gonadoblastoma
An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements.
testicular gonadoblastoma
obsolete testicular mixed germ cell-sex cord-stromal neoplasm
testicular mixed germ cell-Sex Cord tumor
obsolete enterotoxemia
obsolete commensal Clostridium infectious disease
clostridial infection
obsolete Puerperal pyrexia of unknown origin
pancreatic ductal carcinoma
A pancreatic carcinoma located_in the pancreatic duct.
malignant neoplasm of duct of Wirsung
pancreatic duct cancer
pancreatic carcinoma
A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.
Exocrine pancreas carcinoma
carcinoma of pancreas
Pancreatic carcinoma, familial
exocrine cancer
obsolete Poor Prognosis metastatic Gestational Trophoblastic tumor
gestational trophoblastic neoplasm
gestational trophoblastic neoplasia
hydatidiform mole
molar pregnancy
trophoblastic neoplasm
A germ cell and embryonal cancer that derives_from trophoblastic tissue.
Trophoblastic tumor
obsolete Nonmetastatic Gestational Trophoblastic tumor
epithelioid trophoblastic tumor
placental site trophoblastic tumor
A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
Placental-Site Gestational Trophoblastic neoplasm
placental site trophoblastic tumour
obsolete Good Prognosis metastatic Gestational Trophoblastic tumor
toxic encephalopathy
A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
neurotoxicity
neurotoxicity syndrome
mucinous cystadenocarcinoma
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
Pseudomucinous cystadenocarcinoma
ovarian mucinous cystadenocarcinoma
An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
mucinous cystadenocarcinoma of ovary
ovarian cystadenocarcinoma
An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
cystadenocarcinoma of ovary
cystadenocarcinoma of the Ovary
ovary adenocarcinoma
An ovarian carcinoma that derives_from epithelial cells of glandular origin.
Ovarian adenocarcinoma
ovarian adenoacanthoma
adenocarcinoma of the ovary
ovarian mucinous adenocarcinoma
An ovary adenocarcinoma that is characterized by the presence of mucin.
mucinous carcinoma of Ovary
appendix mucinous cystadenocarcinoma
Colloidal cystadenocarcinoma of the appendix
appendix adenocarcinoma
An appendix carcinoma that derives_from epithelial cells of glandular origin.
Appendiceal adenocarcinoma
appendix carcinoma
An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Ca appendix
carcinoma of appendix
breast mucinous cystadenocarcinoma
A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin.
breast mucinous carcinoma
A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout.
Invasive mucinous breast carcinoma
mucinous carcinoma of breast
cervix endometriosis
A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
Endometriosis of cervix
cervical Endometriosis
acute retinal necrosis syndrome
acute retinal necrosis
Canavan disease
A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
ACY2 DEFICIENCY
AMINOACYLASE 2 DEFICIENCY
ASP DEFICIENCY
ASPA DEFICIENCY
ASPARTOACYLASE DEFICIENCY
CANAVAN-VAN BOGAERT-BERTRAND DISEASE
Spongy degeneration of central nervous system
Kallmann syndrome
A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
Hypogonadism with anosmia
Kallman syndrome
Kallman's syndrome
familial hypogonadism with anosmia
infiltrating angiolipoma
An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.
Angiolipoma, infiltrating
angiolipoma
A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
epidural spinal canal angiolipoma
Angiolipoma of Extradural Spinal canal
epidural spinal canal neoplasm
Extradural tumor
obsolete central nervous system neuroepithelial neoplasm
beta-mannosidosis
A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
Beta-D-mannosidosis
beta-mannosidase deficiency
lysosomal beta-mannosidase deficiency
obsolete commensal Desulfovibrionaceae infectious disease
childhood spinal cord tumor
childhood Spinal Cord neoplasm
spinal cord intramedullary teratoma
Intramedullary Spinal teratoma
obsolete spontaneous rupture of bladder
Nontraumatic rupture of bladder (disorder) [Ambiguous]
Rupture of bladder, nontraumatic
spontaneous rupture of bladder (disorder)
central nervous system teratoma
A teratoma that is located_in the central nervous system.
CNS teratoma
conus medullaris neoplasm
tumor of Conus Medullaris
empty sella syndrome
sella turcica neoplasm
tumor of Sella Turcica
skull base cancer
tumors of Skull Base
hypothalamic neoplasm
neoplasm of the Hypothalamus
tumor of hypothalamus
obsolete inborn errors pyruvate metabolism
Inborn error of pyruvate metabolism (disorder)
pyruvate decarboxylase deficiency
A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
deficiency of pyruvic dehydrogenase
pyruvate dehydrogenase complex deficiency disease
pyruvate dehydrogenase deficiency
pyruvate carboxylase deficiency disease
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
deficiency of pyruvic carboxylase
Leigh disease
A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
Infantile necrotizing encephalomyelopathy
Leigh syndrome
juvenile subacute necrotizing encephalomyelopathy
subacute necrotizing encephalomyelopathy
obsolete laboratory infectious disease
laboratory infection
OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
sialuria
A lysosomal storage disease characterized by increased sialic acid in the urine.
this NCI term represents either benign or malignant[LS].
obsolete olfactory nerve neoplasm
neoplasm of olfactory nerve
tumor of Olfactory nerve
wheat allergy
A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis.
allergy to wheat
wheat allergic reaction
diffuse cutaneous mastocytosis
solitary mastocytoma of the skin
A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.
Solitary Mastocytoma of skin
Solitary mastocytoma
cutaneous solitary mastocytoma
obsolete Cardiovirus infectious disease
A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus.
obsolete Picornaviridae infectious disease
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses.
intermittent claudication
Charcot's syndrome
olfactory nerve disease
A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell.
disorder of 1st nerve
disorder of olfactory [1st] nerve
disorder of olfactory nerve
pericoronitis
rhabdoid cancer
A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
Rhabdoid sarcoma
malignant rhabdoid tumour
rhabdoid tumor
childhood kidney cancer
pediatric renal tumor
kidney rhabdoid cancer
A embryonal cancer that is located in the kidney.
renal Rhabdoid tumor
rhabdoid tumor of the kidney
kidney rhabdoid tumor
pulmonary plasma cell granuloma
A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue.
Lymphocytic pseudotumor of lung
Sclerosing hemangiocytoma of lung
granuloma, plasma cell, pulmonary
obsolete malignant neoplasm of lip, oral cavity and pharynx
malignant Oral cavity neoplasm
malignant Oral neoplasm
malignant Pharyngeal tumor
malignant neoplasm of mouth
malignant neoplasm of mouth NOS (disorder)
malignant neoplasm of mouth, unspecified
malignant neoplasm of oral cavity NOS
malignant neoplasm of other specified mouth parts (disorder)
malignant neoplasm of other specified parts of mouth
malignant neoplasm of palate NOS (disorder)
malignant neoplasm of palate unspecified (disorder)
malignant neoplasm of palate, unspecified
malignant neoplasm of pharynx
malignant neoplasm of pharynx unspecified (disorder)
malignant neoplasm of pharynx, NOS
malignant neoplasm of pharynx, unspecified
malignant neoplasm of roof of mouth
malignant tumor of oral cavity (disorder)
malignant tumor of palate (disorder)
malignant tumor of pharynx (disorder)
malignant tumor of the Palate
malignant tumour of mouth
lung benign neoplasm
tumor of the lung
obsolete Helicobacter pylori infectious disease
Helicobacter Pylori Infection
MELAS syndrome
A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
plexopathy
brachial plexus neuritis
A brachial plexus neuropathy that affects the chest, shoulder, arm and hand.
Brachial neuritis
Parsonage-Aldren-Turner syndrome
malignant olfactory nerve neoplasm
malignant olfactory nerve tumor
malignant tumor of Olfactory nerve
primary malignant neoplasm of olfactory nerve
anal colloid adenocarcinoma
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid.
mucinous adenocarcinoma of anus
anal canal adenocarcinoma
An anal canal cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the anal canal
adenocarcinoma of anal canal
ampulla of Vater mucinous adenocarcinoma
obsolete adnexal mucinous adenocarcinoma
obsolete adnexa adenocarcinoma
adenocarcinoma of the skin Appendage
adenocarcinoma of the adnexa
acute sanguinous otitis media
A acute transudative otitis media which involves bloody effusion.
bile duct mucinous adenocarcinoma
mucinous carcinoma of the bile duct
bile duct adenocarcinoma
A bile duct carcinoma that derives_from epithelial cells of glandular origin.
uterine ligament mucinous adenocarcinoma
A uterine ligament adenocarcinoma that produces mucin.
uterine ligament adenocarcinoma
A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.
uterine ligament cancer
A uterine cancer that is located_in the ligaments that support the uterus.
tumor of the uterine Ligament
cervical mucinous adenocarcinoma
A cervical adenocarcinoma that derives_from mucin producing epithelial cells.
cervical adenocarcinoma
A cervix carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma cervix uteri
adenocarcinoma of cervix
adenocarcinoma of the uterine Cervix
prostate colloid adenocarcinoma
A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.
acinar Colloid prostate adenocarcinoma
fallopian tube mucinous adenocarcinoma
A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
fallopian tube adenocarcinoma
A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the fallopian tube
fallopian tube mucinous tumor
A fallopian tube benign neoplasm that produces mucin.
endometrial mucinous adenocarcinoma
An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
uterine Corpus mucinous adenocarcinoma
rectum mucinous adenocarcinoma
A rectal adenocarcinoma that produces mucin.
Colloidal adenocarcinoma of rectum
neuroblastoma
An autonomic nervous system neoplasm that derives_from immature nerve cells.
bladder colloid adenocarcinoma
bladder adenocarcinoma
A bladder carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of bladder
adenocarcinoma of the urinary bladder
bladder adenocarcinoma, Not Otherwise Specified
obsolete non-suppurative otitis media and eustachian tube disorder
A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed.
mucinous stomach adenocarcinoma
mucinous adenocarcinoma of the stomach
gastric diffuse adenocarcinoma
A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.
stomach carcinoma
A stomach cancer that is located_in the stomach.
cancer of the stomach
carcinoma of stomach
gastric carcinoma
obsolete Arterivirus infectious disease
A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus.
extramedullary plasmacytoma
extraosseous plasmacytoma
plasmacytoma, extramedullary
plasmacytoma
Myeloma - solitary
Myeloma, solitary
Solitary myeloma
Solitary plasmacytoma
plasma cell neoplasm
A mature B-cell neoplasm that is composed of plasma cells.
Plasma cell dyscrasia
Plasma cell tumour
Plasmacytic tumor
solitary osseous plasmacytoma
Isolated osseous plasmacytoma
Solitary plasmacytoma of bone
solitary plasmacytoma of chest wall
Solitary plasmacytoma of the Chest Wall
obsolete puerperal disease
disorder of puerperium (disorder)
disorder of the puerperium
puerperal disorder
acute allergic sanguinous otitis media
A acute sanguinous otitis media caused by an allergen.
obsolete Respirovirus infectious disease
A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person.
disease due to Paramyxovirus (disorder)
obsolete infant nutrition disorder
infant nutrition disorder
obsolete pneumonic pasteurellosis
A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia.
Pneumonic pasteurellosis
obsolete primary Pasteurellaceae infectious disease
obsolete bovine respiratory disease complex
A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals.
theileriasis
A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks.
Infection by Theileria
theileriosis
verrucous carcinoma
A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
Warty carcinoma
verrucous squamous carcinoma
verrucous squamous cell carcinoma
obsolete human papillomavirus related squamous cell carcinoma
A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas.
HPV-Related squamous cell carcinoma
nutrition disease
An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
Nutritional disorder
vulva verrucous carcinoma
A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions.
verrucous carcinoma of Vulva
bladder verrucous squamous cell carcinoma
bladder squamous cell carcinoma
A carcinoma of bladder that is manifested in squamous cells of the bladder.
Epidermoid carcinoma of the urinary bladder
squamous cell carcinoma of bladder
cervical verrucous carcinoma
A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth.
cervical squamous cell carcinoma
A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
squamous cell carcinoma of cervix
squamous cell carcinoma of the Cervix Uteri
esophagus verrucous carcinoma
oesophagus verrucous carcinoma
verrucous carcinoma of esophagus
verrucous carcinoma of oesophagus
verrucous carcinoma of the esophagus
esophagus squamous cell carcinoma
An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
SCC of esophagus
SCC of oesophagus
oesophagus squamous cell carcinoma
urethral verrucous carcinoma
A urethra squamous cell carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
urethra squamous cell carcinoma
A cancer of urethra that shows squamous cell differentiation.
urethral Epidermoid carcinoma
urethra cancer
An urinary tract cancer that derives_from the tissues of the urethra.
malignant tumour of urethra
malignant urethral neoplasm
urethral Ca
cancer of urethra
plantar verrucous skin carcinoma
larynx verrucous carcinoma
verrucous carcinoma of the Larynx
antithrombin III deficiency
A thrombophilia that is characterized by the tendency to form clots in the veins.
AT III deficiency
hereditary thrombophilia due to congenital antithrombin deficiency
obsolete Fusobacterium infectious disease
hermaphroditism
Denys-Drash syndrome
A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
leukorrhea
A vaginal discharge that is characterized by a whitish or yellow color.
Leukorrhea of vagina
discharge - leukorrhea
vaginal discharge
A vaginal disease that is characterized by the presence of discharge.
intraventricular meningioma
obsolete third ventricle chordoid glioma
chordoid glioma
A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.
Chordoid glioma of 3rd Ventricle
Chordoid glioma of third ventricle
third ventricle chordoid glioma
granuloma annulare
Granulome annulare
anovulation
An ovarian disease that is characterized by the absence of ovulation.
Coffin-Lowry syndrome
A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
external ear disease
An auditory system disease that is located_in the external ear.
Preauricular cyst
Preauricular sinus and fistula
Preauricular sinus or fistula
obsolete feline panleukopenia
A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting.
Feline panleukemia
obsolete avian leukosis
A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors.
Tumor Virus Infections
Crigler-Najjar syndrome
A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
Bilirubin UDP glucuronyl transferase deficiency
Crigler Najjar syndrome
Crigler-Najjar syndrome, type I
porokeratosis
disseminated superficial actinic porokeratosis
epidural spinal canal meningioma
obsolete chondrogenic neoplasm
Chondromatous neoplasm (morphologic abnormality)
Chondromatous neoplasm NOS (morphologic abnormality)
Chondromatous tumor
cartilage neoplasm
obsolete mediastinum chondroma
Chondroma of mediastinum
central nervous system chondroma
Chondroma of the CNS
soft tissue chondroma
A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.
extraskeletal chondroma
glossopharyngeal nerve paralysis
toxicodendron dermatitis
An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction.
Contact dermatitis due to Genus Toxicodendron
Rhus dermatitis
obsolete primary Chlamydiaceae infectious disease
chlamydiaceae infection
posterior cerebral artery infarction
Shwartzman phenomenon
Shwartzman reaction
congenital diaphragmatic hernia
A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
Diaphragmatic Hernia
chromophobe adenoma
Chromophobe adenoma of the Pituitary gland
pituitary gland benign neoplasm
A benign neoplasm located in the pituitary gland.
obsolete posttransplantation lymphoproliferative disease
obsolete benign lymphoproliferative disease
obsolete skin lymphoproliferative disease
Lymphoproliferative disorder of skin
Wolff-Parkinson-White syndrome
Anomalous A-V excitation
Wolff-Parkinson-White pattern
anomalous atrioventricular excitation
craniopharyngioma
neoplasm of Rathke's Pouch
diencephalic neoplasm
malignant Diencephalic tumor
malignant diencephalic neoplasm
tumor of Diencephalon
obsolete pediatric craniopharyngioma
pediatric Rathke's Pouch tumor
obsolete childhood intracranial neoplasm
adamantinous craniopharyngioma
Adamantinous Rathke's Pouch tumor
craniopharyngioma, adamantinomatous
papillary craniopharyngioma
Papillary Rathke's Pouch tumor
craniopharyngioma, papillary
obsolete adult craniopharyngioma
adult Rathke's Pouch tumor
obsolete adult intracranial neoplasm
adult intracranial tumor
Peutz-Jeghers syndrome
An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
Colonic hamartomatous polyp
Peutz Jeghers colon polyp
Peutz Jeghers polyp
Peutz-Jeghers polyp of small Intestine
gastric Peutz-Jeghers polyp
peutz-jeghers small bowel hamartoma
seminal vesicle tumor
Seminal Vesicle neoplasm
seminal vesicle tumour
tumor of seminal vesicle
tumour of seminal vesicle
large cell medulloblastoma
A medulloblastoma that is characterized by cells that are larger than would be normally expected.
Anaplastic medulloblastoma
obsolete relapsed medulloblastoma
obsolete postpericardiotomy syndrome
Postcardiotomy syndrome
cerebellar vermis medulloblastoma
Vermis Medulloblastoma
medullomyoblastoma
obsolete FAP associated medulloblastoma
obsolete region 17p13 allelic loss associated medulloblastoma
adult medulloblastoma
adult brain medulloblastoma
adult central nervous system embryonal tumor
A central nervous system embryonal tumor that occurs in adults.
adult CNS PNET
adult central nervous system primitive neuroectodermal neoplasm
obsolete desmoplastic medulloblastoma
desmoplastic medulloblastoma (morphologic abnormality)
desmoplastic nodular medulloblastoma
obsolete nevoid basal cell carcinoma syndrome associated medulloblastoma
melanotic medulloblastoma
Medulloblastoma, melanotic
childhood medulloblastoma
pediatric Medulloblastoma
childhood central nervous system embryonal tumor
A central nervous system embryonal tumor that occurs in childhood.
childhood central nervous system primitive neuroectodermal neoplasm
pediatric CNS PNET
obsolete medulloblastoma with leptomeningeal spread
obsolete leptomeningeal metastases
Meningeal carcinomatosis
malignant meningitis (disorder)
metastatic tumor to the Leptomeninges
According to WHO ICDO Medulloblastoma with extensive nodularity is the same as desmoplastic nodular medulloblastoma.
desmoplastic/nodular medulloblastoma
A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
Medulloblastoma with extensive nodularity
nodular medulloblastoma
phlebitis
A vein disease that is characterized by inflammation of a vein.
colonic pseudo-obstruction
primary chronic pseudo-obstruction of colon
functional colonic disease
obsolete intestinal pseudo-obstruction
obsolete Proteus infectious disease
Proteus infection
Proteus infection (disorder)
Proteus infection NOS (disorder)
acute intermittent porphyria
AIP - acute intermittent porphyria
Pyrroloporphyria
porphyria intermittent acute
placental insufficiency
A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.
insulinoma
A pancreatic cystadenoma that is characterized by the overproduction of insulin.
Insulin-Producing tumor of Islet cells
Islet cell adenoma
pancreatic cystadenoma
hidrocystoma
Eccrine Cystadenoma
Eccrine hidrocystoma of skin
apocrine cystadenoma
apocrine sweat gland neoplasm
Apocrine tumor
apocrine adenoma
tubular Apocrine adenoma
obsolete skin appendage adenoma
Adnexal adenoma
skin appendage adenoma (morphologic abnormality)
adenoma of skin appendage
obsolete skin appendage neoplasm
Adnexal and skin appendage neoplasm (morphologic abnormality)
Adnexal and skin appendage neoplasm NOS (morphologic abnormality)
Adnexal and skin appendage tumor (qualifier value)
obsolete venous problem
Antenatal deep vein thrombosis
Antenatal deep vein thrombosis NOS (disorder)
Antenatal deep vein thrombosis unspecified (disorder)
Antepartum deep phlebothrombosis (disorder)
Deep phlebothrombosis, antepartum
Deep phlebothrombosis, antepartum, unspecified as to episode of care
Deep phlebothrombosis, antepartum, with delivery
Deep phlebothrombosis, postpartum, with delivery
antepartum deep-vein thrombosis
postpartum deep-vein thrombosis
vulvitis
A vulvar disease that is characterized by inflammation of the vulva.
obsolete pseudorabies
A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle.
Aujeszky's disease
mad itch
bronchus carcinoma
A bronchus cancer that has_material_basis_in epithelial cells.
BC - Bronchogenic carcinoma
lung squamous cell carcinoma
A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
Epidermoid cell carcinoma of the lung
squamous cell carcinoma of lung
obsolete bronchogenic lung adenocarcinoma
Bronchiogenic adenocarcinoma
progeria
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
HGPS
Hutchinson Gilford syndrome
Hutchinson-Gilford Progeria syndrome
Hutchinson-Gilford disease
obsolete serous cystadenoma of ovary
Ovarian serous Cystadenoma
obsolete borderline malignancy serous cystadenoma
Atypical proliferating serous tumour
Low Malignancy Potential serous Cystadenoma
pancreatic serous cystadenoma
pancreatic serous cystic neoplasm
diffuse lipomatosis
main bronchus cancer
Ca main bronchus
malignant neoplasm of main bronchus
steroid lipomatosis
mediastinal lipomatosis
pelvic lipomatosis
adiposis dolorosa
A lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas.
Dercum disease
anterior compartment syndrome
compartment syndrome
Compartmental syndrome
NCI retired concept, merged with liposarcoma[LS]
obsolete lipomatous cancer
malignant lipomatous tumor
malignant tumor of Adipose tissue
pituitary-dependent Cushing's disease
Overproduction of ACTH
pituitary-dependent Cushing disease
adrenal gland hyperfunction
Adrenocortical hyperfunction
hyperadrenalism
hypercortisolism
adrenocortical carcinoma
An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Adrenal cortical carcinoma
carcinoma of the Adrenal cortex
adrenal cortex cancer
Adrenal cortical tumors
malignant Adrenocortical tumor
malignant neoplasm of adrenal cortex
malignant tumour of adrenal cortex
neoplasm of adrenal cortex
adrenal carcinoma
An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the Adrenal gland
adrenal gland cancer
An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
adrenal cancer
adrenal neoplasm
malignant Adrenal tumor
malignant neoplasm of adrenal gland
neoplasm of adrenal gland
tumor of the Adrenal gland
adrenal cortical adenocarcinoma
An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
Adrenal cortex adenocarcinoma
Loeffler endocarditis
A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
Eosinophilic Endomyocardial disease
follicular thyroid carcinoma
A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.
Follicular adenocarcinoma
Follicular adenocarcinoma, well differentiated
Follicular carcinoma
Thyroid adenocarcinoma
thyroid gland follicular carcinoma
trabecular follicular adenocarcinoma
Follicular adenocarcinoma, trabecular
Trabecular Follicular carcinoma
Merkel cell carcinoma
A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.
Trabecular adenocarcinoma
trabecular carcinoma
Obsolete concept in NCI, reviewed June 2024 [LS]
obsolete papillary follicular thyroid adenocarcinoma
papillary thyroid carcinoma
A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.
Papillary carcinoma of the Thyroid gland
Papillary carcinoma of thyroid
thyroid gland papillary carcinoma
poorly differentiated thyroid carcinoma
A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis.
PDTC
insular carcinoma
poorly differentiated carcinoma of thyroid gland
poorly differentiated thyroid gland carcinoma
obsolete medullary carcinoma
Medullary carcinoma
Medullary carcinoma (morphologic abnormality)
Medullary carcinoma NOS (morphologic abnormality)
obsolete cutaneous tuberculosis
Tuberculosis cutis
Tuberculosis of skin (disorder)
Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination
tuberculosis of skin and subcutaneous cellular tissue
pantothenate kinase-associated neurodegeneration
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Hallervorden-Spatz disease
Hallervorden-Spatz syndrome
NBIA1
Pigmentary pallidal degeneration
brain Iron Accumulation type I syndrome
neurodegeneration with brain iron accumulation 1
Meige syndrome
A cranio-facial dystonia that is accompanied by blepharospasm.
oesophagostomiasis
A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules.
Infection by Oesophagostomum
obsolete Strongylus equinus infectious disease
A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus.
Infection by Strongylus equinus (disorder)
equine strongyle infectious disease
ostertagiasis
A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia.
obsolete urinary tract infiltrating transitional cell carcinoma
Bartholin's gland transitional cell carcinoma
A Bartholin's gland carcinoma that derives_from transitional epithelial cells.
Bartholin gland transitional cell carcinoma
Bartholin's gland carcinoma
A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland.
Bartholin gland carcinoma
carcinoma of Bartholin's gland
Bartholin's gland cancer
A vulva cancer that is located in Bartholin's gland.
ovary transitional cell carcinoma
An ovarian epithelial cancer that derives_from epithelial transitional cells.
malignant ovarian transitional cell neoplasm
ovarian transitional cell cancer
transitional cell carcinoma of Ovary
ovarian transitional cell neoplasm
Schneiderian carcinoma
Cylindrical cell carcinoma
endometrial transitional cell carcinoma
An endometrial carcinoma that derives_from transitional epithelial cells.
bladder urothelial carcinoma
A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
bladder transitional cell carcinoma
transitional cell carcinoma of bladder
urinary bladder urothelial carcinoma
urothelial bladder carcinoma
fallopian tube transitional cell carcinoma
A fallopian tube carcinoma that derives_from epithelial transitional cells.
obsolete renal pelvis and ureter transitional cell cancer
Urothelial carcinoma of the renal Pelvis and Ureter
multidrug-resistant tuberculosis
A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
obsolete renal pelvis and ureter cancer
prostate transitional cell carcinoma
A prostate carcinoma that derives_from transitional epithelial cells.
transitional cell carcinoma of prostate
papillary transitional carcinoma
A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
Papillary transitional cell carcinoma
urethra transitional cell carcinoma
An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
urethral transitional cell carcinoma
sarcomatoid carcinoma
A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features.
spindle cell carcinoma
oral tuberculosis
A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible.
obsolete psychomotor disease
psychomotor disorder
ureterocele
A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
linitis plastica
Leather-bottle stomach
scirrhous adenocarcinoma
An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
adenocarcinoma with Productive Fibrosis
non-human, term inherited from mesh, obsoleting:LS
obsolete steatitis
obsolete vitamin E deficiency
obsolete fetal distress
FETAL DISTRESS
Fetal distress
Fetal distress (finding)
Fetal distress NOS
Fetal distress NOS (finding)
Fetal distress unspecified (finding)
angioma serpiginosum
A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
Angioma serpiginosum of skin
skin hemangioma
Angioma of the skin
Angiomatous naevus of skin
eosinophilic gastritis
eosinophilic gastroenteritis
bacterial gastritis
A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.
fungal gastritis
A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
lymphocytic gastritis
obsolete Helicobacter pylori gastritis
A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen.
Helicobacter gastritis
Helicobacter-associated gastritis (disorder)
necrotizing gastritis
granulomatous gastritis
obsolete Crohn's associated gastritis
skeletal muscle neoplasm
tumor of Skeletal Muscle
liver rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of liver that are located_in the liver.
Rhabdomyosarcoma of Liver
central nervous system rhabdomyosarcoma
Rhabdomyosarcoma of the CNS
mediastinum rhabdomyosarcoma
A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents.
Rhabdomyosarcoma of mediastinum
mediastinum sarcoma
A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum.
sarcoma of mediastinum
mediastinal cancer
A thoracic cancer that is located_in the mediastinum.
Tumour of mediastinum
mediastinal tumor
mediastinum cancer
neoplasm of mediastinum
alveolar rhabdomyosarcoma
alveolar childhood rhabdomyosarcoma
obsolete rhabdomyosarcoma recurrent
relapsed Rhabdomyosarcoma
rectum rhabdomyosarcoma
A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors.
Rhabdomyosarcoma of rectum
ectomesenchymoma
Rhabdomyosarcoma with ganglionic differentiation
central nervous system mesenchymal non-meningothelial tumor
A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
Non-meningothelial mesenchymal tumor
Non-meningothelial mesenchymal tumour
central nervous system mesenchymal non-meningothelial tumour
obsolete adult rhabdomyosarcoma
gallbladder rhabdomyosarcoma
A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles.
Rhabdomyosarcoma of the gallbladder
gallbladder sarcoma
A sarcoma that is located_in the gallbladder.
malignant mesenchymal tumor of gallbladder
ovary rhabdomyosarcoma
An ovary sarcoma that arises from skeletal muscle progenitors.
Rhabdomyosarcoma of Ovary
breast rhabdomyosarcoma
A breast sarcoma that arises from skeletal muscle cells.
Rhabdomyosarcoma of the breast
testis rhabdomyosarcoma
A testis sarcoma that arises from mesenchymal cells and is located_in the testis.
Rhabdomyosarcoma of testis
testis sarcoma
A sarcoma and malignant neoplasm of testis that is located_in the testis.
sarcoma of testis
bile duct sarcoma
A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct.
sarcoma of the bile duct
mixed type rhabdomyosarcoma
mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma
anus rhabdomyosarcoma
A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus.
rhabdomyosarcoma of anus
anus sarcoma
A sarcoma and malignant neoplasm of anus that is located_in the anus.
sarcoma of anus
hepatic tuberculosis
A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice.
Tuberculosis of liver
duodenogastric reflux
pancreatic cystadenocarcinoma
cystadenocarcinoma of pancreas
bile duct cystadenocarcinoma
biliary cystadenocarcinoma
obsolete pleomorphic adenoma of the breast
obsolete metastasizing mixed tumor of salivary gland
tricuspid valve stenosis
A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
Tricuspid stenosis
tricuspid valve insufficiency
A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
Tricuspid incompetence
Tricuspid regurgitation
Tricuspid valve regurgitation
testicular trophoblastic tumor
obsolete testicular germ cell tumor non-seminomatous
A testicular germ cell cancer characterized by the absence of a seminomatous component.
testicular non-seminomatous germ cell cancer
A testicular malignant germ cell cancer that is characterized by the absence of a seminomatous component.
Testicular Non-Seminomatous Germ Cell Tumor
malignant Non-Seminomatous germ cell tumor of testis
testicular pure germ cell tumor
testicular germ cell cancer
A testicular cancer that has_material_basis_in germ cells.
germ cell tumor of testis
testicular germ cell neoplasm
obsolete Torovirus infectious disease
A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces.
obsolete Caliciviridae infectious disease
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses.
obsolete vesicular exanthema of swine
A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact.
VES
obsolete metastatic squamous cell carcinoma
metastatic squamous cell carcinoma
metastatic squamous cell carcinoma (disorder)
squamous cell carcinoma, metastatic (morphologic abnormality)
squamous cell carcinoma, metastatic NOS (morphologic abnormality)
obsolete tuberculous ascites
Tuberculous Ascites
Tuberculous ascites (disorder)
obsolete secondary carcinoma
secondary carcinoma
secondary carcinoma NOS (disorder)
obsolete rinderpest
A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract.
cattle plague
steppe murrain
obsolete canine distemper
A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching.
obsolete commensal Bacteroidaceae infectious disease
obsolete primary Flavobacteriaceae infectious disease
obsolete bovine tuberculosis
Bovine tuberculosis (disorder)
Infection due to Mycobacterium bovis (disorder)
cervical adenosarcoma
A cervical carcinosarcoma that is located_in the cervix.
cervical Muellerian adenosarcoma
cervical Mullerian adenosarcoma
cervical carcinosarcoma
A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
cervical malignant mixed Mullerian tumor
cervical malignant mixed mesodermal mullerian tumor
cervical mixed epithelial and mesenchymal neoplasm
uterine corpus adenosarcoma
An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus.
uterine Corpus mullerian adenosarcoma
adenosarcoma of uterine corpus
uterine body mixed cancer
A uterine corpus cancer that has_material_basis_in more than one type of cell.
malignant mixed tumor of Corpus Uteri
ovarian mesodermal adenosarcoma
An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
Ovarian mullerian Adenosarcoma
ovarian carcinosarcoma
A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
Ovarian MMMT
ovarian malignant mesodermal (mullerian) mixed tumor
ovarian malignant mixed Mullerian tumor
vaginal adenosarcoma
A vaginal carcinosarcoma derives_from the glands that line the uterus.
colon neuroendocrine neoplasm
Colonic neuroendocrine tumor
intestinal neuroendocrine benign tumor
intestinal neuroendocrine benign tumour
neuroendocrine tumor of Intestine
neuroendocrine tumour of Intestine
obsolete atypical Mycobacterium infectious disease
Atypical mycobacterium infection NOS
Infection due to mycobacterium, non-TB
Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder)
Mycobacterial infection, NOS (excluding tuberculosis and leprosy)
obsolete West Nile virus infectious disease
A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back.
obsolete avian tuberculosis
A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense.
Avian tuberculosis (disorder)
Infection due to Mycobacterium avium (disorder)
erythrasma
A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum.
Infection due to Corynebacterium minutissimum
myxosarcoma
obsolete cardiovascular tuberculosis
biliary dyskinesia
A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.
sphincter of oddi dysfunction
intraorbital meningioma
A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance.
orbital cancer
A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.
malignant neoplasm of orbit
neoplasm of orbit proper
orbit cancer
orbital tumor
obsolete meningioma by site
obsolete herpes zoster dermatitis
Herpes zoster dermatitis (disorder)
gastrointestinal adenoma
GI adenoma
gastrointestinal neuroendocrine benign tumor
skull base chordoma
A chordoma that is located_in the skull base.
Chordoma of the Skull Base
chondroid chordoma
A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma.
dentinogenesis imperfecta
A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.
primary syphilis
A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.
Symptomatic early syphilis
early symptomatic syphilis
early syphilis, symptomatic
syphilis
A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.
syphilitic chancre
secondary syphilis
A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks.
secondary syphilis of viscera or bone
differentiating neuroblastoma
obsolete relapsed neuroblastoma
ganglioneuroblastoma
cerebral neuroblastoma
A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells.
neuroblastoma of Cerebrum
neuroblastoma of brain
neuroblastoma of the cerebral hemisphere
obsolete regional neuroblastoma
obsolete localized resectable neuroblastoma
obsolete localized unresectable neuroblastoma
obsolete disseminated neuroblastoma
metastatic neuroblastoma
Rh isoimmunization
Rh incompatibility affecting management of mother
blood group incompatibility
scleroderma
A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
dermatosclerosis
pseudopseudohypoparathyroidism
A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
Normocalcemic pseudohypoparathyroidism
PPHP
echolalia
A speech disorder that involves the automatic repetition of vocalizations made by another person.
mutism
A speech disorder that involves a complete inability to speak.
femoral neuropathy
A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve.
Femoral nerve lesions
femoral nerve dysfunction
obsolete commensal Bifidobacteriales infectious disease
peroneal neuropathy
brain stem glioma
A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.
Brainstem Neuroglial tumor
childhood brain stem neoplasm
A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
pediatric tumor of Brainstem
childhood infratentorial neoplasm
A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells.
pediatric Infratentorial tumor
brainstem intraparenchymal clear cell meningioma
Intraparenchymal Clear cell meningioma of the Brainstem
clear cell meningioma
posterior fossa meningioma
A meningioma that affects the posterior cranial fossa.
meningioma of the Posterior Cranial Fossa
posterior cranial fossa meningioma
malignant ovarian Brenner tumor
A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
obsolete adult soft tissue sarcoma
A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body.
adult sarcoma of the soft tissue
endometrial stromal sarcoma
An endometrial stromal tumor that has_material_basis_in connective tissue.
ESS
Undifferentiated endometrial sarcoma
endometrial stromal sarcoma, high grade
endometrial stromal tumor
endometrial Stromal neoplasm
uterine corpus endometrial stromal sarcoma
A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining.
uterine corpus endometrial stromal tumor
uterine corpus sarcoma
An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus.
sarcoma of Corpus Uteri
sarcoma of uterus
obsolete stromal sarcoma
Stromal sarcoma
Stromal sarcoma (morphologic abnormality)
histiocytoma
extraosseous Ewing sarcoma
A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
extraosseous Ewing's sarcoma
extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
extraskeletal Ewing sarcom
clear cell sarcoma
A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
Clear cell sarcoma of soft Parts
adult soft part clear cell sarcoma
malignant melanoma of soft tissues
melanoma, malignant, of soft parts
malignant melanoma of soft parts
spindle cell sarcoma
A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
obsolete malignant soft tissue neoplasm of central nervous system
malignant soft tissue tumor of CNS
alveolar soft part sarcoma
A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
pulmonary immaturity
A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio.
primary atelectasis of newborn
primary atelectasis, in perinatal period
obsolete malignant miscellaneous mesenchymal tumor
obsolete extraskeletal cartilaginous and osseous tumor
obsolete malignant mediastinal mesenchymal tumor
malignant soft tissue tumor of mediastinum
coronary restenosis
Gerstmann-Straussler-Scheinker syndrome
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
Gerstmann-Straussler-Scheinker disease
PRION DEMENTIA
obsolete certain conditions originating in the perinatal period
conjunctivochalasis
Alexander disease
A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
Alexander's disease
melorheostosis
An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
obsolete rheumatism
Caffey disease
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
cortical congenital hyperostosis
infantile cortical hyperostosis
Weissenbacher-Zweymuller syndrome
An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
Piere-Robin syndrome
Pierre Robin Malformation
gait apraxia
obsolete drug-induced akathisia
Drug-induced akathisia (disorder)
angiomyoma
A leiomyoma that is located_in the blood vessels.
vascular leiomyoma
intravascular angioleiomyoma
akinetic mutism
A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
Coma vigilans
encephalitozoonosis
A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.
Infection by Encephalitozoon
microsporidiosis
An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
Infection by Microspora
Infection by Microsporea
Infection by Microsporida
obsolete bovine hemorrhagic syndrome
A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes.
obsolete Pestivirus infectious disease
A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder.
penis basal cell carcinoma
A basal cell carcinoma that is located_in the penis.
basal cell carcinoma of the penis
scrotum basal cell carcinoma
Basal cell carcinoma of scrotum
basal cell carcinoma of the scrotum
infundibulocystic basal cell carcinoma
A variant of basal cell carcinoma characterized by follicular differentiation.
skin infundibulocystic basal cell carcinoma
nodular basal cell carcinoma
A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
Basal cell carcinoma, nodular
Circumscribed solid basal cell carcinoma
skin nodulo-ulcerative basal cell carcinoma
skin solid (nodular) Basal cell carcinoma
metatypical basal cell carcinoma
A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma.
Basosquamous carcinoma of skin
skin Metatypical carcinoma
skin metatypical basal cell carcinoma
pigmented basal cell carcinoma
A basal cell carcinoma characterized by brown or black pigmentation.
skin pigmented basal cell carcinoma
anal margin basal cell carcinoma
A basal cell carcinoma that is located_in the anal margin.
Basal cell carcinoma of Perianal skin
basal cell carcinoma of anal margin
obsolete complications of pregnancy, childbirth and the puerperium
skin nasal cell carcinoma with sebaceous differentiation
A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin.
sebaceous basal cell carcinoma
skin basosebaceous basal cell carcinoma
sebaceous carcinoma
A skin cancer that arises from the sebaceous glands.
Malignant Sebaceous Neoplasm
malignant Sebaceous tumor
malignant neoplasm of sebaceous gland
external ear basal cell carcinoma
Basal cell carcinoma of the External ear
basal cell carcinoma of external ear
external ear carcinoma
An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the External ear
carcinoma of external ear
external ear cancer
An ear cancer that is located_in the external ear.
malignant neoplasm of the External ear
malignant tumor of external ear
micronodular basal cell carcinoma
A basal cell carcinoma characterized by solid tumor nodules.
skin micronodular basal cell carcinoma
gynatresia
A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.
adamantinoid basal cell epithelioma
Basal cell carcinoma - adamantinoid
Melanotic adamantinoma of skin
skin adamantinoid basal cell epithelioma
fibroepithelial basal cell carcinoma
Fibroepithelioma of Pinkus
Fibroepithelioma of Pinkus type
Pinkus tumor
morpheaform basal cell carcinoma
Basal cell carcinoma, morphea
Cicatricial basal-cell carcinoma
Morphea-type (Sclerosing) Basal cell carcinoma
clear cell basal cell carcinoma
skin clear cell basal cell carcinoma
adenoid basal cell carcinoma
A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.
skin adenoid basal cell carcinoma
follicular basal cell carcinoma
A basal cell carcinoma that is characterized by follicular differentiation.
Skin Follicular Basal Cell Carcinoma
follicular (pilar) basal cell carcinoma
scimitar syndrome
A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
Halasz syndrome
congenital venolobar syndrome
hypogenetic lung syndrome
mirror-image lung syndrome
pulmonary venolobar syndrome
total anomalous pulmonary venous return
vena cava bronchovascular syndrome
obsolete respiratory system abnormality
infiltrative basal cell carcinoma
A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern.
skin infiltrating basal cell carcinoma
superficial basal cell carcinoma
Multifocal superficial basal cell carcinoma
Superficial multicentric basal-cell carcinoma
multicentric basal cell carcinoma
vulva basal cell carcinoma
A vulva carcinoma that has_material_basis_in basal cells.
Basal cell carcinoma of Vulva
basal cell carcinoma of the vulva
cystic basal cell carcinoma
A nodular basal cell carcinoma that is characterized by a homogenous blue/black area.
skin cystic basal cell carcinoma
sarcomatoid basal cell carcinoma
skin sarcomatoid basal cell carcinoma
signet ring basal cell carcinoma
skin signet ring cell basal cell carcinoma
radiculopathy
A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.
pinched nerve
polyradiculopathy
A radiculopathy that is present in more than one nerve.
polyradiculoneuropathy
A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves.
myofascial pain syndrome
smooth muscle tumor
epidermolysis bullosa acquisita
An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
acquired epidermolysis bullosa
obsolete visna
A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia.
Ovine encephalomyelitis
non-gestational choriocarcinoma
A choriocarcicoma that develops in the absence of a preceding gestational event.
large cell acanthoma
pilar sheath acanthoma
epidermolytic acanthoma
acantholytic acanthoma
Ebola virus disease
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
Ebola
Ebola disease
Ebola hemorrhagic fever
obsolete Filoviridae infectious disease
A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses.
Marburg hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburg virus (Orthomarburgvirus marburgense), which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
Marburg disease
Marburg virus disease
Erdheim-Chester disease
A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs.
non-Langerhans-cell histiocytosis
A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells.
obsolete Intraventricular hemorrhage from any perinatal cause
burning mouth syndrome
A mouth disease that is characterized by long-lasting burning sensations of the mouth.
Orodynia
Stomatopyrosis
obsolete familial hypophosphatemia
Hypophosphatemia, familial
familial hypophosphataemia
parovarian cyst
A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary.
Cyst, fimbrial
Embryonic fimbrial cyst
splenic manifestation of prolymphocytic leukemia
splenic manifestation of leukemia
A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia.
splenic leukemia
tinea favosa
A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
favus
obsolete anterior mediastinum cancer
variegate porphyria
Protocoproporphyria
Protoporphyrinogen oxidase deficiency
lymphocele
Lymph cyst
obsolete complications occurring mainly in the course of labor and delivery
Rupture of uterus before onset of labor, antepartum
Rupture of uterus before onset of labor, with delivery
obsolete malignant neoplasm of thymus, heart and mediastinum
obsolete bovine anaplasmosis
Anaplasmosis (disorder)
obsolete primary Anaplasmataceae infectious disease
ciliary body cancer
malignant neoplasm of ciliary body
malignant tumor of ciliary body
malignant tumor of the Ciliary body
neoplasm of ciliary body
tumor of the Ciliary body
ciliary body disease
An iris disease that is located_in the ciliary body.
obsolete regressing malignant melanoma
malignant melanoma, regressing (morphologic abnormality)
regressing malignant melanoma
regressing melanoma
obsolete experimental melanoma
Experimental malignant melanoma
obsolete metastatic melanoma
amelanotic melanoma
posterior mediastinum cancer
epithelioid cell melanoma
epithelioid melanoma
malignant breast melanoma
A breast cancer that arises_from melanocytes.
breast melanoma
malignant melanoma of breast
apparent mineralocorticoid excess syndrome
A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
11-beta-hydroxysteroid dehydrogenase deficiency type 2
cortisol 11-beta-ketoreductase deficiency
syndrome of apparent mineralocorticoid excess
obsolete brain hypoxia-Ischemia
stomach diverticulosis
Schnitzler syndrome
A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy.
intracranial embolism
Cerebral embolism with cerebral infarction
cerebral embolism
Silo filler's disease
A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans.
Silo-fillers' disease
silo filler disease
obsolete agricultural workers' disease
peanut allergy
A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.
allergy to peanuts
peanut allergic reaction
nut allergy
A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis.
allergy to nuts
nut allergic reaction
obsolete conventional alveolar rhabdomyosarcoma
obsolete solid alveolar rhabdomyosarcoma
orbit alveolar rhabdomyosarcoma
An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form.
Alveolar Rhabdomyosarcoma of the orbit
papillary squamous carcinoma
A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.
papillary epidermoid carcinoma
myofibroma
Lipoleiomyoma
obsolete recurrent peripheral primitive neuroectodermal tumor
bone peripheral neuroepithelioma
osseous peripheral Neuroepithelioma
soft tissue peripheral neuroepithelioma
peripheral Neuroectodermal tumor of soft tissues
obsolete Henipavirus infectious disease
A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.
reticulohistiocytic granuloma
Reticulohistiocytoma
solitary reticulohistiocytoma
granulomatous dermatitis
pustulosis of palm and sole
Acropustulosis
Palmoplantar Pustulosis
Pustular psoriasis of the palms and/or soles
acneiform dermatitis
dermatosis papulosa nigra
obsolete cervical glandular tumor
occupational dermatitis
Occupational allergic contact dermatitis
Occupational eczema
spongiotic dermatitis
phototoxic dermatitis
An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.
Photosensitisation reaction
Photosensitive Dermatitis
Photosensitiveness
folliculitis
obsolete contact dermatitis due to arnica
Allergic Dermatitis due to Arnica
Contact dermatitis due to arnica (disorder)
Dermatitis due to arnica
hepatitis E
A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus (Paslahepevirus balayani), which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice.
obsolete Astroviridae infectious disease
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses.
cervix melanoma
A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes.
fibrous histiocytoma
Fibroxanthoma
benign fibrous histiocytoma
cutaneous fibrous histiocytoma
Pleomorphic fibroma
Sclerosing angioma
Sclerosing angioma of skin
benign Cutaneous fibrous Histiocytoma
dermatofibroma
fibrohistiocytic tumor
fibrous histiocytoma of skin
fibrous xanthoma of skin
benign deep fibrous histiocytoma
malignant adenofibroma
sea-blue histiocytosis
A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.
Sea-blue histiocyte syndrome
juvenile xanthogranuloma
A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk.
Multiple eruptive juvenile xanthogranuloma
Naevoxanthoendothelioma
Xanthoma neviforme
obsolete lipogranuloma
Lipogranuloma (disorder)
Lipogranuloma (morphologic abnormality)
Oil granuloma (disorder)
Xanthogranuloma
Xanthogranuloma (disorder)
lipogranulomatosis
dyslexia
A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
somatostatinoma
Somatostatin cell neoplasm
Somatostatin cell tumour
pancreatic somatostatinoma
pancreatic Somatostatin cell tumor
pancreatic delta cell somatostatin producing neoplasm
pancreatic delta cell neoplasm
pancreatic Delta cell tumor
small intestine neuroendocrine neoplasm
small Intestine neuroendocrine tumor
cavernous sinus meningioma
meningioma of the Cavernous sinus
anterior cranial fossa meningioma
meningioma of the Anterior Fossa
skull base meningioma
meningioma of the Skull Base
central nervous system germinoma
germinoma of CNS
seminoma
A germinoma that has_material_basis_in cells that make sperm and eggs.
Seminoma, Pure
dysgerminoma
A germ cell cancer that derives_from cells that give rise to egg cells.
cervical alveolar soft part sarcoma
An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix.
obsolete cervical soft tissue tumor
obsolete arachnoid cyst
Arachnoid cyst
Arachnoid cyst (disorder)
Leptomeningeal Cyst
obsolete central nervous system cyst
Cyst of central nervous system (disorder)
Cyst of the CNS
cystoid macular edema
macular retinal edema
macular edema
macular oedema
macular retinal oedema
retinal edema
renal carcinoma
A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
carcinoma of kidney
kidney carcinoma
obsolete recurrent renal cell carcinoma
Relapsed Renal cell carcinoma
childhood kidney cell carcinoma
pediatric renal cell carcinoma
multilocular clear cell renal cell carcinoma
cystadenocarcinoma of kidney
renal cystadenocarcinoma
collecting duct carcinoma
A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.
carcinoma of renal Collecting duct
renal Medullary carcinoma
renal carcinoma, collecting duct type
papillary renal cell carcinoma
A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
Chromophil carcinoma of kidney
papillary kidney carcinoma
sporadic papillary renal cell carcinoma
MESH:C538445 added from NeuroDevNet [WAK].
clear cell renal cell carcinoma
A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
Clear cell carcinoma of kidney
clear cell kidney carcinoma
conventional (Clear cell) renal cell carcinoma
conventional renal cell carcinoma
renal clear cell carcinoma
Clear-cell metastatic renal cell carcinoma
clear cell adenocarcinoma
An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Mesonephroid Clear cell carcinoma
Mesonephroma, malignant
Water-clear cell adenocarcinoma
Water-clear cell carcinoma
Wolffian duct neoplasm
malignant Mesonephroma
mesonephroma
chromophobe renal cell carcinoma
A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.
Chromophobe carcinoma of kidney
chromophobe adenocarcinoma
kidney chromophobe
renal cell carcinoma, chromophobe cell
mucinous tubular and spindle renal cell carcinoma
sarcomatoid renal cell carcinoma
renal cell carcinoma, spindle cell
obsolete drug-Induced dyskinesia
Drug-induced dyskinesia
Drug-induced dyskinesia (disorder)
obsolete facial neoplasm
face neoplasm
neoplasm of face (disorder)
achondroplasia
An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.
Achondroplastic physique
Chondrodystrophia
osteosclerosis congenita
rhinitis
A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
malignant biphasic mesothelioma
Mesothelioma, biphasic, malignant
mixed Mesothelioma
sarcomatoid mesothelioma
malignant fibrous mesothelioma
spindled mesothelioma
malignant epithelial mesothelioma
obsolete head neoplasm
head neoplasm
neoplasm of head (disorder)
neoplasm of the head
malignant peritoneal solitary fibrous tumor
A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum.
Pleural and peritoneal Solitary fibrous tumor
Pleural and peritoneal Solitary fibrous tumour
malignant peritoneal solitary fibrous tumour
persian gulf syndrome
A syndrome affecting returning military veterans and civilian workers of the Gulf War.
Gulf war syndrome
avian influenza
An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.
avian flu
bird flu
obsolete Orthomyxoviridae infectious disease
A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites.
Orthomyxoviridae disease
disease due to Orthomyxoviridae (disorder)
obsolete metastatic malignant neoplasm to the cervix
metastasis to the Cervix Uteri
secondary malignant neoplasm of cervix uteri (disorder)
secondary malignant neoplasm of uterine cervix (disorder)
obsolete child nutrition disorder
hypokalemia
hypopotassemia
potassium deficiency disorder
obsolete relapsed angiosarcoma
relapsed hemangiosarcoma
central nervous system angiosarcoma
A central nervous system sarcoma that is located_in the inner lining of blood vessels.
hemangiosarcoma of the CNS
childhood angiosarcoma
An angiosarcoma that affects children.
paediatric angiosarcoma
paediatric hemangiosarcoma
pediatric angiosarcoma
pediatric hemangiosarcoma
obsolete angiosarcoma associated with lymphedema
aorta angiosarcoma
An angiosarcoma that is located_in the aorta.
Aortic hemangiosarcoma
breast angiosarcoma
An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.
hemangiosarcoma of the breast
conventional angiosarcoma
gallbladder angiosarcoma
An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder.
hemangiosarcoma of gallbladder
thyroid angiosarcoma
A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter.
hemangiosarcoma of the Thyroid
thyroid sarcoma
A thyroid gland cancer that is located_in the supporting cells of the thyroid.
sarcoma of the Thyroid gland
skin angiosarcoma
An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration.
angiosarcoma of skin
hemangiosarcoma of the skin
pleomorphic adenoma
A gastrointestinal system benign neoplasm that is a located_in the salivary glands.
mixed tumor of the Salivary gland
cervical endometrial stromal sarcoma
A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.
endometrial stromal sarcoma of the cervix
cervix endometrial stromal tumor
A cervical cancer that derives_from the fibrous connective tissue of the endometrium.
superior vena cava angiosarcoma
angiosarcoma of the Superior Vena Cava
prostate angiosarcoma
An angiosarcoma and sarcoma of prostate that is located_in the prostate.
Prostatic hemangiosarcoma
mediastinum angiosarcoma
An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum.
hemangiosarcoma of mediastinum
ovarian angiosarcoma
An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels.
hemangiosarcoma of Ovary
Hallermann-Streiff syndrome
A syndrome that affects growth, cranial development, hair growth and dental development.
Francois dyscephalic syndrome
Hallerman - Streiff syndrome
Hallermann's syndrome
merged labyrinthine disease into inner ear disease [LS]
obsolete labyrinthine disease
dysgraphia
A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper.
nominal aphasia
An agnosia that involves a severe problem with recalling words or names.
Anomic aphasia
anomia
basophil adenoma
Pituitary gland Basophilic adenoma
retrograde amnesia
An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
mesenchymal chondrosarcoma
childhood mesenchymal chondrosarcoma
pediatric mesenchymal chondrosarcoma
adult mesenchymal chondrosarcoma
An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage.
extraskeletal mesenchymal chondrosarcoma
mesenchymal extraosseous chondrosarcoma
nomenclature update.
extraskeletal myxoid chondrosarcoma
A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern.
Myxoid extraosseous chondrosarcoma
extraosseous chondrosarcoma
anal gland neoplasm
anus benign neoplasm
anal neoplasm
anal tumors
neoplasm of anus
large cell carcinoma
A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.
thymus large cell carcinoma
large cell carcinoma of the Thymus
type C thymoma
Thymoma, type C
ovarian large-cell neuroendocrine carcinoma
An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells.
Non-small-cell type neuroendocrine carcinoma of Ovary
Dorland, 27th ed [LS]
oral leukoedema
A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer.
Leukedema of mouth
Ludwig's angina
Ludwig angina
cellulitis of floor of mouth
ascariasis
A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.
Ascariasis - roundworm
Ascaris lumbricoides infection
non specific chronic endometritis
An endometritis that is present for weeks or more and does not have an identifiable causative organism.
granulomatous endometritis
An endometritis that is characterized by the presence of granulomas in the uterus.
subacute bacterial endocarditis
Endocarditis lenta
SBE - Subacute bacterial endocarditis
Subacute endocarditis, lenta
obsolete Ascaridida infectious disease
A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end.
obsolete metastatic meningioma
obsolete deletion of short arm of chromosome 1 (1p) associated meningioma
choroid plexus meningioma
Choroid meningioma
meningioma of the Choroid Plexus
cerebral meningioma
meningioma of Cerebrum
obsolete relapsed meningioma
familial meningioma
benign meningioma
meningioma, benign
secretory meningioma
obsolete deletion of chromosome 22 associated meningioma
obsolete multiple meningiomas
meningiomatosis
meningiomatosis (morphologic abnormality)
meningiomatosis NOS (morphologic abnormality)
lymphoplasmacyte-rich meningioma
Lymphoplasmocyte-rich meningioma
childhood meningioma
pediatric meningioma
microcystic meningioma
obsolete adult meningioma
obsolete central nervous system adult tumor
neoplasm of adult CNS
obsolete deletion of chromosome 3p associated meningioma
common bile duct neoplasm
neoplasm of common bile duct
ulnar neuropathy
obsolete carcinoma of unknown primary
carcinoma of unknown primary
obsolete bovine atypical interstitial pneumonia
A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung.
Atypical interstitial pneumonia of cattle (disorder)
Fog fever
acute bovine pulmonary emphysema AND edema (disorder)
periapical granuloma
Apical granuloma
maxillary cancer
A jaw cancer that effects the maxilla or upper jaw.
maxillary neoplasm
upper jaw bone cancer
obsolete cancer by anatomical entity
A cancer that affects an anatomical entity.
malignant neoplasm of aortic body and other paraganglia
malignant neoplasm of aortic body and other paraganglia (disorder)
Ollier disease
A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
ENCHONDROMATOSIS, MULTIPLE
Enchondromatosis with haemangiomata
Kast's syndrome
dyschondroplasia
osteochondromatosis
obsolete enchondromatosis
Enchondromatosis (disorder)
Ollier's disease
hydranencephaly
ideomotor apraxia
Classic apraxia
Ideomotor dyspraxia
Limb-kinetic apraxia
Transcortical apraxia
obsolete porcine reproductive and respiratory syndrome
A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia.
inverted transitional papilloma
transitional papilloma, inverted
obsolete inverted papilloma of paranasal sinus
Inverting papilloma of Accessory sinus
nasal cavity inverting papilloma
Inverting papilloma of the nasal cavity
nasal cavity benign neoplasm
A respiratory system benign neoplasm that arises from the nasal cavity.
Benign Nasal Cavity Neoplasm
neoplasm of nasal cavity
tumor of the nasal cavity
submandibular adenitis
submandibular lymphadenitis
cervical adenitis
cervical lymphadenitis
postauricular lymphadenitis
suppurative lymphadenitis
Suppurative lymphadenopathy
axillary adenitis
obsolete Bacteroides infectious disease
retinal cancer
Retinal tumor
malignant Retinal neoplasm
malignant neoplasm of retina
malignant tumor of retina
neoplasm of retina
trilateral retinoblastoma
A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region.
retinoblastoma
A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
RB - Retinoblastoma
neuroblastoma of Retina
familial retinoblastoma
Hereditary Retinoblastoma
bilateral retinoblastoma
A retinoblastoma that develops in both eyes.
unilateral retinoblastoma
A retinoblastoma that effects only one eye.
intraocular retinoblastoma
A retinoblastoma that is located_in the eye and has not spread to other parts of the body.
obsolete relapsed retinoblastoma
extraocular retinoblastoma
A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.
benign mastocytoma
extracutaneous mastocytoma
indolent systemic mastocytosis
ISM
multiple chemical sensitivity
A syndrome that is an adverse physical reaction to low levels of many common chemicals.
20th century disease
chemical AIDS
environmental illness
idiopathic environmental illness
total allergy syndrome
thalamic disease
A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury.
filamentary keratitis
obsolete superficial keratitis without conjunctivitis
kyphosis
A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column.
Kyphosis deformity of spine
congenital kyphosis
A kyphosis that results_in abnormal formation located_in body of vertebra.
venous hemangioma
freemartinism
uremic neuropathy
uremia
UREMIA OF renal ORIGIN
thymus mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the thymus.
Mucoepidermoid carcinoma of the Thymus
breast mucoepidermoid carcinoma
A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions.
Mucoepidermoid carcinoma of the breast
mucoepidermoid carcinoma of breast
breast metaplastic carcinoma
A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.
Metaplastic carcinoma of the breast
metaplastic carcinoma of breast
intramuscular hemangioma
Intramuscular Angioma
bile duct mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in a bile duct.
Mucoepidermoid carcinoma of the bile duct
cholangiocarcinoma
A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
adult primary Cholangiocarcinoma
adult primary cholangiocellular carcinoma
cholangiosarcoma
cutaneous mucoepidermoid carcinoma
Mucoepidermoid carcinoma of skin
Mucoepidermoid skin carcinoma
obsolete skin appendage carcinoma
carcinoma of adnexa
skin appendage carcinoma (morphologic abnormality)
lacrimal gland mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the lacrimal gland.
Mucoepidermoid carcinoma of the lacrimal gland
mucoepidermoid esophageal carcinoma
Mucoepidermoid carcinoma of the esophagus
thyroid gland mucoepidermoid carcinoma
A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue.
mucoepidermoid thyroid carcinoma
laryngeal mucoepidermoid carcinoma
A mucoepidermoid carcinoma located_in the larynx.
Mucoepidermoid carcinoma of Larynx
deep angioma
childhood mediastinal neurogenic tumor
childhood mediastinal neurogenic tumour
paediatric neurogenic tumour of mediastinum
pediatric neurogenic tumor of mediastinum
endophthalmitis
A globe disease that is characterized by inflammation of the inside of the eye.
nerve plexus neoplasm
neural Plexus tumors
obsolete malignant peripheral nerve neoplasm
malignant tumor of PNS
malignant tumor of peripheral nerve (disorder)
intraneural perineurioma
perineurioma
soft tissue Perineurioma
nerve root neoplasm
tumor of nerve Root
epicardium cancer
Epicardial tumor
malignant Epicardial tumor
malignant neoplasm of epicardium
verrucous keratotic hemangioma
obsolete bathing trunk nevus
Congenital giant pigmented nevus of skin (disorder)
Giant Pigmented nevus of the skin
Intermediate and giant congenital naevus
mongolian spot
Mongolian Macula
obsolete childhood brain tumor
pediatric neoplasm of brain
cervicomedullary junction neoplasm
tumor of the Cervicomedullary Junction
foramen magnum meningioma
meningioma of the Foramen Magnum
obsolete krebs 2 carcinoma
obsolete gastric mesenchymal neoplasm
mesenchymal tumor of stomach
obsolete obstetrical pelvic hematoma
postpartum pelvic hematoma
gastric neuroendocrine neoplasm
neuroendocrine tumor of the stomach
malignant gastric germ cell tumor
germ cell tumor of the stomach
germ cell tumour of the stomach
malignant gastric germ cell tumour
extragonadal germ cell cancer
A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary.
extragonadal germ cell malignant tumor
neoplasm of Extragonadal germ cell
tumor of extragonadal germ cell
bone giant cell sarcoma
A malignant giant cell tumor that is composed_of multinucleated giant cells.
Giant cell sarcoma of the bone
Giant cell tumor of bone, malignant
subglottic angioma
hemangioma of the Subglottis
intracranial hypotension
A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging.
brain edema
A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.
intracranial swelling
wet brain
obsolete neck neoplasm
neck neoplasm
neck neoplasm (Including All Pharyngeal Related neoplasm)
neoplasm of neck (disorder)
obsolete Anterior synechiae
Anterior synechiae (disorder)
Anterior synechiae of iris
obsolete adhesions of iris
Synechia (iris)
Synechiae NOS
Unspecified adhesions of iris (disorder)
adhesions of iris (disorder)
adhesions of iris, unspecified
vasomotor rhinitis
A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food.
atrophic rhinitis
A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues.
Ozaena
Rhinitis, atrophic
dry rhinitis
ozena
rhinitis sicca
calciphylaxis
obsolete Iris or ciliary body disorder
testicular Brenner tumor
A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.
histiocytoid hemangioma
Angiolymphoid hyperplasia with eosinophilia
epithelioid haemangioma
epithelioid hemangioma
obsolete mixed embryonal carcinoma and teratoma of the testis
mixed Embryonal carcinoma and teratoma of testis
mixed testicular germ cell tumor
A mixed germ cell cancer that is located_in the testis.
mixed germ cell tumor of testis
mixed germ cell tumour of testis
mixed testicular germ cell tumour
testicular malignant germ cell cancer
malignant germ cell tumor of testis
placenta accreta
A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.
obsolete olfaction disorder
disorder of smell (disorder)
obsolete childhood supratentorial neoplasm
pediatric Supratentorial tumor
middle cranial fossa meningioma
meningioma of the middle Cranial Fossa
striatonigral degeneration
obsolete Dictyocaulus infectious disease
A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus.
Infection by Dictyocaulus (disorder)
testicular Leydig cell tumor
testicular Leydig cell neoplasm
testicular sex cord-stromal neoplasm
A sex cord-gonadal stromal tumor that is located_in the testis.
Sex Cord-Stromal tumor of testis
obsolete peripheral anterior synechiae
Goniosynechiae
Goniosynechiae (disorder)
peripheral anterior synechiae (disorder)
breast hemangioma
A breast benign neoplasm that is characterized by a collection of excess blood vessels.
Angioma of the breast
hemangioma of breast
obsolete malignant catarrh
A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge.
Gangrenous Coryza
Snotsiekte
malignant catarrhal fever
vasculogenic impotence
An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue.
pulmonary blastoma
A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children.
Blastoma of lung
embryoma
A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells.
Blastoma
classic pulmonary blastoma
epithelial predominant pulmonary blastoma
pleuropulmonary blastoma
A pulmonary blastoma that derives_from the lung or pleural cavity.
obsolete mesoblastic nephroma
A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life.
congenital mesoblastic nephroma
A kidney cancer that is characterized by the presence of fibroblastic cells.
obsolete feline acquired immunodeficiency syndrome
A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system.
rapidly progressive glomerulonephritis
exudative glomerulonephritis
proliferative glomerulonephritis
focal embolic glomerulonephritis
obsolete breast vascular neoplasm
vascular tumor of breast
anti-basement membrane glomerulonephritis
A Goodpasture syndrome that is characterized by damage to only kidney capillaries.
anti-GBM glomerulonephritis
Goodpasture syndrome
An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.
anti-GBM disease
anti-glomerular basement membrane disease
subacute glomerulonephritis
mesangial proliferative glomerulonephritis
immune-complex glomerulonephritis
Immune Complex Glomerulonephritis
obsolete primitive neuroectodermal tumor with Leptomeningeal Spread
cerebellopontine angle primitive neuroectodermal tumor
Cerebellopontine Angle PNET
intracranial primitive neuroectodermal tumor
intracranial PNET
angiokeratoma
Angiokeratoma of skin
Cutaneous Angiokeratoma
skin angiokeratoma
medulloepithelioma
Diktyoma, malignant
Medulloepithelioma, central nervous system
supratentorial primitive neuroectodermal tumor
Supratentorial PNET
obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered
GM2 gangliosidosis, AB variant
A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.
GM2 Activator Deficiency
Tay-Sachs disease AB variant
Tay-Sachs disease, variant AB
space motion sickness
SM-AHNMD
systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
aggressive systemic mastocytosis
ASM
Lymphadenopathic mastocytosis with eosinophilia
obsolete AIDS-related idiopathic thrombocytopenic purpura
obsolete iris vascular disorder
obsolete border disease
A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation.
hairy shaker disease
obsolete swine vesicular disease
An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness.
obsolete Enterovirus infectious disease
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food.
obsolete enzootic porcine encephalomyelitis
A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice.
Poliomyelitis Suum
Porcine polioencephalomyelitis
Talfan disease
Teschen disease
obsolete central nervous system hereditary degenerative disease
cerebrotendinous xanthomatosis
A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.
Cholestanol storage disease
adult brainstem gliosarcoma
adult brain stem Gliosarcoma
adult brain stem glioma
A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells.
adult Brainstem Neuroglial tumor
obsolete ganglioneuroma of the retroperitoneum
Ganglioneuroma of Retroperitoneum
obsolete maturing ganglioneuroma
ganglioneuroma
An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum.
obsolete lung occult non-small cell carcinoma
Occult Non-small cell carcinoma of the lung
occult non-small cell carcinoma of lung
obsolete lung occult carcinoma
Occult carcinoma of the lung
occult carcinoma of lung
hemangioma of peripheral nerve
obsolete metastatic lung carcinoma
Unspecified stage IV carcinoma of lung
adenosquamous lung carcinoma
An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells.
vascular hemostatic disease
adenosquamous carcinoma
A squamous cell carcinoma that contains squamous cells and gland-like cells.
Adenosquamous cell carcinoma
mixed adenocarcinoma and squamous carcinoma
obsolete spleen mast cell malignancy
Mast cell malignancy of spleen (disorder)
malignant mast cell tumors involving spleen
obsolete non small cell lung cancer recurrent
recurrent NSCLC
obsolete recurrent lung carcinoma
relapsed Unspecified carcinoma of the lung
Gorham's disease
A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
Disappearing bone disease
Gorham disease
essential osteolysis
massive osteolysis
phantom bone disease
Gorham-Stout Syndrome
myoepithelial carcinoma
A carcinoma that derives_from myoepithelial cells.
sebaceous adenocarcinoma
Sebaceous carcinoma
adenocarcinoma of the Sebaceous gland
obsolete malignant tumor of epidermal appendage
malignant skin Appendage neoplasm
malignant tumor of epidermal appendage (disorder)
subependymal glioma
Subependymal astrocytoma
WHO grade I Ependymal tumor
mixed subependymoma-ependymoma
benign ependymoma
WHO grade II Ependymal tumor
epithelial ependymoma
pilomyxoid astrocytoma
A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies.
pilocytic astrocytoma
A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
Piloid astrocytoma
grade I Astrocytic tumor
cauda equina intradural extramedullary astrocytoma
Intradural Extramedullary Astrocytic tumor of the Cauda Equina
cerebellar astrocytoma
astrocytoma of Cerebellum
obsolete glioma of visual pathway
glioma of the optic tract
pleomorphic xanthoastrocytoma
A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.
Pleomorphic Xantho-astrocytoma
pilocytic astrocytoma of cerebellum
Cerebellar Pilocytic astrocytoma
diencephalic astrocytoma
astrocytoma of Diencephalon
gliofibroma
pineal gland astrocytoma
Pineal Astrocytic tumor
glomeruloid hemangioma
brain stem astrocytic neoplasm
A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes.
Brainstem astrocytoma
spinal cord astrocytoma
Spinal astrocytoma
astrocytoma of spinal cord
obsolete Rubella virus infectious disease
A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method.
Rubivirus infectious disease
obsolete Togaviridae infectious disease
A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses.
salivary gland adenoid cystic carcinoma
A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
Cylindroma
cervical adenoid cystic carcinoma
A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli.
adenoid cystic carcinoma of the Cervix Uteri
prostate adenoid cystic carcinoma
adenoid cystic carcinoma of the prostate
adenoid cystic carcinoma of prostate
laryngeal adenoid cystic carcinoma
adenoid cystic carcinoma of Larynx
lacrimal gland adenoid cystic carcinoma
adenoid cystic carcinoma of lacrimal gland
cutaneous adenocystic carcinoma
adenoid cystic carcinoma of the skin
adenoid cystic eccrine carcinoma
adenoid cystic eccrine carcinoma of skin
lung adenoid cystic carcinoma
pulmonary adenoid cystic carcinoma
adenoid cystic carcinoma of lung
anterior horn cell disease
A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles.
trachea adenoid cystic carcinoma
Tracheal adenoid cystic carcinoma
breast adenoid cystic carcinoma
A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns.
Mammary Adenocystic carcinoma
adenoid cystic carcinoma of breast
esophageal adenoid cystic carcinoma
An esophageal carcinoma that derives_from epithelial cells of the salivary gland.
adenoid cystic carcinoma, esophagus
Bartholin's gland adenoid cystic carcinoma
A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material.
Bartholin gland adenoid cystic carcinoma
obsolete malignant bone vascular tumor
bone vascular neoplasm
osseous vascular tumor
kidney clear cell sarcoma
A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope.
Clear cell sarcoma of kidney
childhood kidney clear cell sarcoma
renal Clear cell sarcoma
obsolete pediatric soft part clear cell sarcoma
obsolete peritoneal neoplasm
neoplasm of peritoneum (disorder)
peritoneum neoplasm
Colorado tick fever
A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus (Coltivirus dermacentoris), which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue.
Tick fever, American mountain
obsolete Rotavirus infectious disease
A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.
lymph node tuberculosis
An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough.
Tuberculous adenitis
Tuberculous lymphadenopathy
king's evil
scrofula
middle ear adenocarcinoma
A middle ear carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the middle ear
adenocarcinoma of middle ear
middle ear carcinoma
A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the middle ear
carcinoma of middle ear
middle ear cancer
An ear cancer that is located_in the middle ear.
neoplasm of middle ear
tumor of the middle ear
rete ovarii adenocarcinoma
An ovary adenocarcinoma that arises from the rete ovarii.
rete ovarii benign neoplasm
A female reporoductive organ benign neoplasm that is located_in the rete ovarii.
obsolete adenocarcinoma in a polyp
adenocarcinoma in adenomatous polyp
adenocarcinoma in adenomatous polyp (morphologic abnormality)
hemangioma of lung
pulmonary hemangioma
obsolete mixed cell adenocarcinoma
mixed cell adenocarcinoma
mixed cell adenocarcinoma (morphologic abnormality)
peritoneal serous adenocarcinoma
primary peritoneal serous adenocarcinoma
granular cell carcinoma
A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.
granular cell adenocarcinoma
obsolete intestinal type carcinoma
adenocarcinoma, intestinal type (morphologic abnormality)
small intestine adenocarcinoma
A small intestine carcinoma that derives_from epithelial cells of glandular origin.
small intestinal adenocarcinoma
adenocarcinoma of small Intestine
small intestine carcinoma
A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
small intestinal carcinoma
cancer of the small bowel
small bowel cancer
urethra adenocarcinoma
An urethra cancer that derives_from epithelial cells of glandular origin.
adenocarcinoma of the urethra
obsolete superficial spreading adenocarcinoma
Superficial Spreading adenocarcinoma
Superficial spreading adenocarcinoma (morphologic abnormality)
obsolete disseminated adenocarcinoma
Disseminated adenocarcinoma
Disseminated adenocarcinoma (morphologic abnormality)
esophagus adenocarcinoma
An esophageal carcinoma that derives_from epithelial cells of glandular origin.
Oesophageal adenocarcinoma
basophilic adenocarcinoma
Basophil adenocarcinoma
Basophil carcinoma
basophilic carcinoma
pituitary carcinoma
carcinoma of the Pituitary gland
villous adenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture.
renal pelvis adenocarcinoma
A renal pelvis carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the kidney Pelvis
adenocarcinoma of renal pelvis
renal pelvis carcinoma
carcinoma of kidney Pelvis
malignant neoplasm of renal pelvis
malignant renal Pelvis neoplasm
malignant tumor of renal pelvis
renal pelvis cancer
acquired hemangioma
eccrine adenocarcinoma
An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin.
eccrine sweat gland cancer
malignant Eccrine tumor
malignant eccrine skin neoplasm
breast secretory carcinoma
A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm.
Juvenile Secretory carcinoma of breast
juvenile breast carcinoma
juvenile carcinoma of the breast
thymus adenocarcinoma
A thymic carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the Thymus
obsolete human papillomavirus related adenocarcinoma
A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers.
HPV-Related adenocarcinoma
obsolete human papillomavirus related carcinoma
A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas.
HPV-Related carcinoma
Klatskin's tumor
An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
Klatskin tumor
Klatskin tumour
Klatskin's tumour
Perihilar extrahepatic bile duct carcinoma
hilar cholangiocarcinoma
hilar cholangiocellular carcinoma
intrahepatic cholangiocarcinoma
A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.
Intrahepatic bile duct carcinoma
peripheral Cholangiocarcinoma
tubular adenocarcinoma
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma.
tubular carcinoma
nasal cavity adenocarcinoma
A nasal cavity carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the nasal cavity
adenocarcinoma of nasal cavity
apocrine carcinoma
An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin.
apocrine adenocarcinoma
apocrine gland carcinoma
carcinoma of the Apocrine gland
apocrine sweat gland cancer
malignant Apocrine tumor
obsolete acidophil carcinoma
Acidophil carcinoma (morphologic abnormality)
Eosinophil carcinoma
obsolete mixed eosinophil-basophil carcinoma
mixed acidophil-basophil carcinoma (morphologic abnormality)
obsolete oxyphilic adenocarcinoma
Follicular carcinoma, oxyphilic cell
Hurthle cell adenocarcinoma
ureter adenocarcinoma
An ureter carcinoma that derives_from epithelial cells of glandular origin.
ureteral adenocarcinoma
adenocarcinoma of ureter
obsolete combined hepatocellular carcinoma and cholangiocarcinoma
Combined hepatocellular carcinoma and cholangiocarcinoma (disorder)
Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality)
carcinoma of Liver and Intrahepatic biliary tract
adenocarcinoma in situ
An in situ carcinoma that derives_from epithelial cells of glandular origin.
gastroesophageal junction adenocarcinoma
adenocarcinoma of Cardioesophageal junction
adenocarcinoma of gastroesophageal junction
sclerosing hemangioma
Sclerosing haemangioma
postpoliomyelitis syndrome
A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems.
Postpolio syndrome
central nervous system melanocytic neoplasm
A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells.
melanocytic tumor of the CNS
central nervous system primary melanocytic lesion
primary melanocytic Lesions of the CNS
primary melanocytic lesion of meninges
obsolete leptomeningeal neoplasm
tumor of leptomeninges
meninges hemangiopericytoma
Meningeal hemangiopericytoma
hemangiopericytoma of meninges
obsolete central nervous system hemangiopericytoma
A hemangiopericytoma which is manifested in the central nervous system.
spindle cell hemangioma
SCH
bone marrow disease
A hematopoietic system disease that is located_in the bone marrow.
bone marrow disorder
pericardial tuberculosis
An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction.
tuberculous pericarditis
neurotic disorder
An anxiety disorder that involves discress but neither delusions nor hallucinations.
Neurotic depression reactive type
Neurotic depressive state
Psychoneurosis
depressive neurosis
neurosis
neurotic depression
reactive depression
obsolete adrenocortical hyperplasia
Adrenal Cortical hyperplasia
Adrenocortical hyperplasia (disorder)
obsolete adrenal hyperplasia
Adrenal gland hyperplasia
Adrenal hypertrophy or hyperplasia (disorder)
Nelson syndrome
Nelson's syndrome
Gerstmann syndrome
A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.
Aphasia-angular gyrus syndrome
prosopagnosia
An agnosia that results in the loss of the ability to consciously recognize familiar faces.
myelofibrosis
A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
Agnogenic myeloid metaplasia
Aleukemic myelosis
Megakaryocytic myelosclerosis
bone Marrow Fibrosis
myelosclerosis
primary myelofibrosis
actinobacillosis
A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media.
obsolete Actinobacillus infectious disease
Actinobacillus infection (disorder)
obsolete Ewing's family recurrent tumor
recurrent Askin's tumor
recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor
obsolete recurrent primitive neuroectodermal tumor
obsolete metastatic Ewing's sarcoma
Ewing's sarcoma, metastatic
obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor
extraosseous Ewings sarcoma-primitive neuroepithelial tumor
extraosseous Ewing's tumor
extraosseous Ewing's tumour
extraosseous Ewings sarcoma-primitive neuroepithelial tumour
nonparalytic poliomyelitis
A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms.
acute nonparalytic poliomyelitis
non-paralytic aseptic meningitis
obsolete recurrent Ewing's sarcoma
relapsed Ewing's sarcoma
alcoholic pancreatitis
optic nerve astrocytoma
Astrocytic tumor of optic nerve
optic tract astrocytoma
optic nerve glioma
glioma of the optic nerve
atypical polypoid adenomyoma
An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm.
adenomyoma of uterine corpus
A uterine benign neoplasm that has_material_basis_in gland and muscle components.
adenomyoma of Corpus Uteri
uterine corpus adenomyoma
cervical adenomyoma
A cervical benign neoplasm that has_material_basis_in gland and muscle components.
trichorhinophalangeal syndrome type II
A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
Langer-Giedion syndrome
Trichorhinophalangeal dysplasia type II
trichorhinophalangeal syndrome type 2
obsolete syphilitic alopecia
Syphilitic alopecia (disorder)
obsolete cutaneous syphilis
Syphilitic skin disorder
obsolete equine infectious anemia
A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat.
Fever, swamp
eunuchism
A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones.
obsolete adult primary liver cancer
adult primary cancer of the Liver
obsolete resectable hepatocellular carcinoma
Resectable Hepatoma
central nervous system hemangioma
hemangioma of CNS
hepatocellular clear cell carcinoma
Clear cell carcinoma of the Liver cells
Hepatocellular carcinoma, clear cell type
obsolete hepatitis virus related hepatocellular carcinoma
obsolete non-resectable hepatocellular carcinoma
aflatoxins-related hepatocellular carcinoma
sclerosing hepatic carcinoma
Sclerosing Hepatocellular carcinoma
obsolete recurrent hepatocellular carcinoma
relapsed Hepatoma
obsolete recurrent cancer of Liver
relapsed cancer of the Liver
obsolete Alphavirus infectious disease
A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite.
pineal parenchymal tumor of intermediate differentiation
pineal parenchymal tumour of intermediate differentiation
adult pineal parenchymal tumor
adult Pineal Parenchymal neoplasm
myoblastoma
benign granular cell tumor
malignant granular cell esophageal tumor
granular cell tumor of esophagus
granular cell tumour of oesophagus
malignant granular cell esophageal tumour
malignant granular cell myoblastoma
granular cell tumor, malignant
malignant granular cell neoplasm
malignant granular cell tumor
vulvar granular cell tumor
A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei.
cardiac granular cell neoplasm
granular cell tumor of Heart
mediastinal granular cell myoblastoma
granular cell tumor of mediastinum
mediastinal neurilemmoma
A neurilemmoma located_in the mediastinum.
Schwannoma of mediastinum
granular cell tumor of the sellar region
A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes.
neurohypophysis granular cell tumor
hobnail hemangioma
Ehrlich tumor carcinoma
Ehrlich tumour carcinoma
Ehrlich's tumor
Ehrlich's tumour
melioidosis
A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
Nightcliff gardener's disease
Pseudoglanders
Whitmore's disease
acute and fulminating melioidosis
subacute and chronic melioidosis
obsolete primary Burkholderia infectious disease
obsolete neuronal and mixed neuronal-glial tumor of cerebellum
adult cerebellar neoplasm
tumor of adult Cerebellum
papillary meningioma of the cerebellum
Papillary meningioma of Cerebellum
rhabdoid meningioma
Papillary meningioma
meningioma, rhabdoid
childhood cerebellar neoplasm
pediatric tumor of Cerebellum
phencyclidine abuse
A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.
PCP abuse
basosquamous carcinoma
Basisquamous cell carcinoma
Metatypical carcinoma
basosquamous cell carcinoma
obsolete uterine corpus soft tissue neoplasm
adjustment disorder
A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred.
adjustment disease
adjustment reaction
obsolete neoplasm of body of uterus
neoplasm of body of uterus (disorder)
tumor of Corpus Uteri
obsolete central nervous system soft tissue neoplasm
soft tissue tumor of the CNS
obsolete meninges gliomatosis
Gliomatosis of the meninges
obsolete malignant neoplasm of meninges
malignant Meningeal tumor
malignant meningeal neoplasm (morphologic abnormality)
malignant neoplasm of meninges NOS
malignant neoplasm of meninges, unspecified
malignant neoplasm of meninges, unspecified (disorder)
malignant tumor of meninges (disorder)
myxopapillary ependymoma
mixed glioma
mixed Neuroglial tumor
mixed gliomas
subependymal giant cell astrocytoma
SEGA
iodine hypothyroidism
obsolete transmissible gastroenteritis of swine
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration.
obsolete transmissible enteritis of turkeys
A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression.
Bluecomb disease (disorder)
mud fever
obsolete feline infectious peritonitis
A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen.
mixed epithelial stromal tumour
sternum cancer
A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum.
obsolete axillary cancer
Axillary neoplasm
neoplasm of axilla (disorder)
ear cancer
auricular cancer
malignant ear neoplasm
malignant tumor of ear
inner ear cancer
An ear cancer located_in the inner ear.
testicular infarct
infarction of testis
testicular infarction
obsolete achromic nevus
Achromic nevus (disorder)
Nonpigmented nevus
Nonpigmented nevus (morphologic abnormality)
copper deficiency myelopathy
A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion.
human swayback
obsolete bovine virus diarrhea-mucosal disease
A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea.
obsolete central nervous system dermoid cyst
Dermoid Cyst of the CNS
dermoid cyst of ovary
A dermoid cyst that is located_in the ovary.
Dermoid cyst
Ovarian Dermoid Cyst
ovarian cystic teratoma
A cystic teratoma that is located_in the ovary.
mature teratoma of the ovary
An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
epididymal neoplasm
neoplasm of epididymis
obsolete Roseolovirus infectious disease
A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7.
mediastinum leiomyoma
A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum.
leiomyoma of mediastinum
fallopian tube leiomyoma
A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells.
extrahepatic bile duct leiomyoma
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct.
leiomyoma of the extrahepatic bile duct
central nervous system leiomyoma
A central nervous system benign neoplasm that derives_from smooth muscle cells.
leiomyoma of CNS
bizarre leiomyoma
A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures.
Atypical leiomyoma
Pleomorphic leiomyoma
Symplastic leiomyoma
deep leiomyoma
A leiomyoma that is located_in deep soft tissue.
simple partial epilepsy
leiomyoma cutis
Cutaneous leiomyoma
leiomyoma of the skin
obsolete skin tumor of smooth muscle origin
Smooth Muscle skin neoplasm
skin tumor of smooth muscle origin (disorder)
anus leiomyoma
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus.
leiomyoma of anus
lung leiomyoma
A lung benign neoplasm that derives_from some smooth muscle cell.
pulmonary leiomyoma
pericardium leiomyoma
A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium.
leiomyoma of Pericardium
leiomyomatosis
A leiomyoma that is multiple and diffuse.
cellular leiomyoma
A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures.
gallbladder leiomyoma
A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells.
leiomyoma of the gallbladder
vulvar leiomyoma
A vulvar benign neoplasm that is located_in smooth muscle cells.
large bowel leiomyoma
An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel.
leiomyoma of large Intestine
appendix leiomyoma
A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix.
Appendiceal leiomyoma
dartoic leiomyoma
A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora.
Dartoic myoma
epithelioid neurofibroma
neurofibroma of gallbladder
Neurofibroma of the gallbladder
plexiform neurofibroma
cellular neurofibroma
atypical neurofibroma
borna disease
A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.
Enzootic encephalomyelitis
multiple mucosal neuroma
benign pleural mesothelioma
Mesothelioma of Pleura
arteriosclerosis obliterans
Monckeberg arteriosclerosis
arteriolosclerosis
An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.
ovarian endometrioid stromal sarcoma
An ovary sarcoma that arises from endometrial stromal tissue.
vaginal endometrial stromal sarcoma
A vagina sarcoma that has_material_basis_in endometrial stroma.
vaginal endometrial stromal tumor
A vaginal cancer that has_material_basis_in endometrial stroma.
endometrium carcinoma in situ
An in situ carcinoma that is located_in the endometrium.
carcinoma in situ of endometrium
endometrial carcinoma in situ
renal Wilms' tumor
Nonanaplastic renal Wilm's tumor
Nonanaplastic renal Wilm's tumour
renal Wilms' tumour
nonanaplastic renal wilms tumor
metachronous kidney Wilms' tumor
metachronous Wilms tumor of the kidney
mixed cell type kidney Wilms' tumor
mixed cell type kidney Wilms' tumour
mixed cell type renal Wilms tumor
mixed cell type renal Wilms tumour
blastema predominant kidney Wilms' tumor
Blastema Predominant renal Wilms tumor
Blastema Predominant renal Wilms tumour
blastema predominant kidney Wilms' tumour
blastema predominant kidney adenosarcoma
hereditary Wilms' tumor
A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
Hereditary Wilms tumor
Hereditary Wilms tumour
WT1
hereditary Wilms' tumour
obsolete recurrent nephroblastoma
A nephroblastoma that recurs over time.
relapsed renal Wilms' tumor
obsolete anaplastic renal Wilms' tumor
A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted.
anaplastic renal Wilm's tumor
anaplastic renal Wilms tumor
epithelial predominant Wilms' tumor
epithelial Predominant renal Wilms tumor
epithelial Predominant renal Wilms tumour
epithelial predominant Wilms' tumour
epithelial predominant kidney adenosarcoma
aortitis
cervical Wilms' tumor
A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney.
cervical Wilms tumor
stromal predominant kidney Wilms' tumor
Stromal Predominant renal Wilms tumor
Stromal Predominant renal Wilms tumour
stromal predominant kidney Wilms' tumour
nodular ganglioneuroblastoma
intermixed schwannian stroma-rich ganglioneuroblastoma
peripheral nervous system ganglioneuroblastoma
PNS Ganglioneuroblastoma
fallopian tube adenomatoid tumor
A fallopian tube benign neoplasm that derives_from mesothelium.
ureteral obstruction
An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.
fructose-1,6-bisphosphatase deficiency
A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
fructose 1 phosphate aldolase deficiency
fructose-1,6-diphosphatase deficiency
obsolete inborn errors fructose metabolism
ovarian germ cell teratoma
germ cell teratoma of Ovary
malignant struma ovarii
A struma ovarii that is cancerous.
Struma ovarii, malignant
Obsoleted in conjunction with obsoletion of corresponding cross-references (version): NCI:C40012 (29.08d), UMLS_CUI:C1511104 (2023AA). 'struma ovarii' is considered benign making this term redundant.
obsolete benign struma ovarii
An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue.
chronic inflammatory demyelinating polyradiculoneuropathy
An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers.
demyelinating polyneuropathy
peripheral demyelinating neuropathy
obsolete ephemeral fever
A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation.
Bovine ephemeral fever
Ephemeral fever of cattle
Three-Day Sickness
Three-Day Stiffsickness
chronic polyneuropathy
acute necrotizing encephalitis
infertility
acute hemorrhagic encephalitis
von Economo's disease
Encephalitis lethargica
von Economo disease
obsolete vaginal blue nevus
obsolete cellular blue nevus
cellular Blue nevus of the skin
cellular blue nevus (morphologic abnormality)
cellular blue nevus of skin (disorder)
obsolete common blue nevus
Common Blue nevus
Common blue nevus of skin (disorder)
Blue nevus of Jadassohn-Tieche
hepatoerythropoietic porphyria
obsolete peritoneal and retroperitoneal tumors
aortic valve prolapse
glomangiosarcoma
malignant Glomus neoplasm
subungual glomus tumor
subungual glomus tumour
obsolete glomus tumor of uncertain malignant potential
obsolete central nervous system AIDS arteritis
A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.
retinal hemangioblastoma
Capillary hemangioma of retina
obsolete resectable cholangiocellular carcinoma
obsolete visual alteration
obsolete recurrent cholangiocellular carcinoma
obsolete hilar cholangiocellular carcinoma
obsolete liver fluke-related cholangiocarcinoma
Opisthorchis Viverrini-Related Cholangiocellular carcinoma
obsolete parasite-related carcinoma
obsolete non-resectable cholangiocellular carcinoma
inflammatory leiomyosarcoma
A leiomyosarcoma that is characterized by a prominent intristic inflammatory component.
obsolete leiomyosarcoma recurrent
relapsed leiomyosarcoma
conventional leiomyosarcoma
A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma.
central nervous system leiomyosarcoma
A leiomyosarcoma that is located_in the central nervous system.
leiomyosarcoma of the CNS
obsolete leiomyosarcoma nonmetastatic
Non-metastatic leiomyosarcoma
granular cell leiomyosarcoma
A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm.
colon leiomyosarcoma
A leiomyosarcoma and sarcoma of colon that is located_in the colon.
Colonic leiomyosarcoma
human immunodeficiency virus infectious disease
A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.
HIV infection
colon sarcoma
A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon.
Colonic sarcoma
heart leiomyosarcoma
leiomyosarcoma of Heart
heart sarcoma
A sarcoma and malignant neoplasm of heart that is located_in the heart.
cardiac sarcoma
sarcoma of Heart
ovary leiomyosarcoma
An ovary sarcoma that arises from smooth muscle progenitors.
leiomyosarcoma of Ovary
epithelioid leiomyosarcoma
A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm.
lung leiomyosarcoma
A leiomyosarcoma and sarcoma of lung that is located_in the lung.
pulmonary leiomyosarcoma
obsolete leiomyosarcoma metastatic
anus leiomyosarcoma
A leiomyosarcoma and sarcoma of the anus that is located_in the anus.
leiomyosarcoma of anus
myxoid leiomyosarcoma
A leiomyosarcoma that is characterized by abundant myxoid stroma.
small intestine leiomyosarcoma
A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.
leiomyosarcoma of the small Bowel
smooth muscle connective tissue tumor
small intestinal sarcoma
A sarcoma and malignant tumor of small intestine that is located_in the small intestine.
sarcoma of the Small Intestine
cutaneous leiomyosarcoma
leiomyosarcoma of the skin
gallbladder leiomyosarcoma
A gallbladder sarcoma that is located_in the soft tissues of the gallbladder.
leiomyosarcoma of the gallbladder
esophagus leiomyosarcoma
leiomyosarcoma of esophagus
leiomyosarcoma of oesophagus
oesophagus leiomyosarcoma
obsolete pediatric leiomyosarcoma
hydrarthrosis
gastric leiomyosarcoma
obsolete malignant mesenchymal neoplasm of the stomach
malignant mesenchymal neoplasm of stomach
prostate leiomyosarcoma
A prostate sarcoma that is located_in the prostate.
leiomyosarcoma of the prostate
vagina leiomyosarcoma
A vagina sarcoma that has_material_basis_in smooth muscle.
leiomyosarcoma of the vagina
retroperitoneal leiomyosarcoma
breast leiomyosarcoma
A breast sarcoma that arises from smooth muscle cells.
leiomyosarcoma of the breast
vulvar leiomyosarcoma
A vulvar sarcoma that has_material_basis_in smooth muscle cells.
kidney leiomyosarcoma
A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.
leiomyosarcoma of kidney
larynx leiomyosarcoma
A leiomyosarcoma located_in the larynx.
leiomyosarcoma of Larynx
uterus leiomyosarcoma
A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus.
leiomyosarcoma of Corpus Uteri
obsolete uterine corpus smooth muscle neoplasm
obsolete adult leiomyosarcoma
mediastinum leiomyosarcoma
A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels.
leiomyosarcoma of mediastinum
extrahepatic bile duct leiomyosarcoma
A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.
leiomyosarcoma of the bile duct
obsolete vessel leiomyosarcoma
leiomyosarcoma of Vessels
liver leiomyosarcoma
A leiomyosarcoma and sarcoma of liver that is located_in the liver.
leiomyosarcoma of the Liver
rectum leiomyosarcoma
A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum.
leiomyosarcoma of rectum
endometrial clear cell adenocarcinoma
An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
Clear cell carcinoma of Endometrium
fallopian tube clear cell adenocarcinoma
A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell carcinoma of the fallopian tube
uterine ligament clear cell adenocarcinoma
A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
cervical clear cell adenocarcinoma
A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell carcinoma of the Cervix Uteri
ovarian clear cell adenocarcinoma
A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
obsolete malignant ovarian clear cell neoplasm
bladder clear cell adenocarcinoma
A clear cell adenocarcinoma that is located_in the bladder.
bladder Mesonephric adenocarcinoma
clear cell adenocarcinoma of bladder
urethra clear cell adenocarcinoma
A clear cell adenocarcinoma that is located_in the urethra.
Clear cell adenocarcinoma of the urethra
ampulla of Vater clear cell adenocarcinoma
epithelial-myoepithelial carcinoma
glycogen-rich clear cell breast carcinoma
A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen.
glycogen-rich carcinoma of breast
obsolete miscellaneous mesenchymal neoplasm
vulvar alveolar soft part sarcoma
An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva.
obsolete alveolar soft part sarcoma recurrent
An alveolar soft part sarcoma that recurs over time.
relapsed Alveolar soft Part sarcoma
obsolete alveolar soft part sarcoma nonmetastatic
An alveolar soft part sarcoma that has not spread to other parts of the body.
Non-metastatic Alveolar soft Part sarcoma
obsolete alveolar soft part sarcoma metastatic
An alveolar soft part sarcoma that has spread to other parts of the body.
obsolete fallopian tube serous tumor
fallopian tube germ cell cancer
A fallopian tube cancer that derives_from germ cells.
fallopian tube germ cell neoplasm
Roberts syndrome
A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1.
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
RBS
Roberts-Sc Phocomelia Syndrome
SC phocomelia syndrome
obsolete Partial recent retinal detachment with single defect
Partial recent retinal detachment with single defect (disorder)
Recent retinal detachment, partial, with single defect
obsolete retinal detachment and defect
Retinal detachment with defect NOS (disorder)
Retinal detachment with retinal defect
Retinal detachment with retinal defect (disorder)
Retinal detachment with retinal defect, unspecified
Unspecified retinal detachment with retinal defect (disorder)
testicular granulosa cell tumor
Granulosa cell tumor of testis
Granulosa cell tumour of testis
testicular granulosa cell tumour
paraphimosis
obsolete renal neoplasm with t(6;11)(p21;q12)
epulis
Gingival polyp
epulides
polyp of Gum
gingival hypertrophy
hypertrophy of gingivae
cyclic hematopoiesis
Cyclic neutropenia
Cyclical neutropenia
Neutropenia, periodic
cyclic agranulocytosis
obsolete persistent disorder of initiating or maintaining wakefulness
anterograde amnesia
An amnestic disorder that involves the impaired or lost ability to memorize new things.
pineal region yolk sac tumor
Pineal Region Yolk Sac neoplasm
childhood endodermal sinus tumor
An endodermal sinus tumor that occurs in children.
childhood endodermal sinus neoplasm
childhood endodermal sinus tumour
paediatric Yolk Sac tumour
pediatric Yolk Sac tumor
central nervous system endodermal sinus tumor
Yolk Sac tumor of the CNS
Yolk Sac tumour of the CNS
central nervous system endodermal sinus tumour
childhood central nervous system endodermal sinus neoplasm
paediatric central nervous system Yolk Sac tumour
pediatric central nervous system Yolk Sac tumor
testicular yolk sac tumor
testicular Yolk Sac neoplasm
obsolete mediastinal endodermal sinus tumor
Yolk Sac tumor of mediastinum
mediastinal endodermal sinus neoplasm
obsolete mediastinal non-seminomatous germ cell cancer
Non-Seminomatous malignant germ cell tumor of mediastinum
adult endodermal sinus tumor
An endodermal sinus tumor that occurs in adults.
adult Yolk Sac neoplasm
adult endodermal sinus neoplasm
central nervous system adult germ cell tumor
central nervous system adult germ cell tumour
germ cell tumor of the adult CNS
germ cell tumour of the adult CNS
ovarian endodermal sinus tumor
An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo.
Endodermal sinus tumor of ovary
Endodermal sinus tumour of ovary
Ovarian Yolk Sac tumor
Ovarian Yolk Sac tumour
ovarian endodermal sinus tumour
ovarian primitive germ cell tumor
A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells.
obsolete lung PAP-AD
obsolete mucinous bronchioloalveolar lung carcinoma
mucinous Bronchoalveolar lung carcinoma
obsolete non-mucinous bronchioloalveolar lung carcinoma
Non-mucinous Bronchoalveolar lung carcinoma
obsolete pure BAC
obsolete persistent disorder of initiating or maintaining sleep
obsolete AD-BAC
obsolete mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma
mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma
focal epithelial hyperplasia
A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
Heck disease
Heck's disease
Multifocal epithelial hyperplasia
myxoid liposarcoma
A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations.
Myxoid/round cell liposarcoma
mixed-type liposarcoma
pulmonary coin lesion
Coin lesion lung
Coin lesion of lung
Wolffian duct adenocarcinoma
A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts.
cervical mesonephric adenocarcinoma
obsolete ovine progressive interstitial pneumonia
A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever.
progressive interstitial pneumonia of sheep
progressive pneumonia of sheep (disorder)
breast hemangiopericytoma
A hemangiopericytoma that is manifested in the breast.
hemangiopericytoma of the breast
retroperitoneal hemangiopericytoma
pilomatrixoma
Pilomatricoma
benign pilomatricoma
hair follicle neoplasm
Hair Matrix neoplasm
Hair matrix tumour
skin pilomatrix carcinoma
Pilomatricoma, malignant
malignant Pilomatricoma
pilomatrix carcinoma of skin
hemoglobin D disease
Hb-D disease
hemoglobin E disease
Hb-E disease
internuclear ophthalmoplegia
obsolete lupus vulgaris
Lupus - tuberculous
Lupus exedens
Lupus vulgaris
Lupus vulgaris (disorder)
Tuberculosis - lupus NOS (disorder)
lupus tuberculosis
bile duct adenoma
A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
Cholangioadenoma
Bartholin's gland adenoma
A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue.
Bartholin gland adenoma
Bartholin's gland disease
A female reproductive system disease that is located in Bartholin's gland.
bile duct cystadenoma
A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells.
Cystadenoma of the bile duct
mixed cell adenoma
An adenoma that has_material_basis_in more than one cell type.
lung adenoma
A lung benign neoplasm that derives_from glandular epithelial cells.
adenoma of lung
pulmonary adenoma
middle ear adenoma
A sensory organ benign neoplasm that is located_in the middle ear.
adenoma of the middle ear
adenoma of middle ear
oxyphilic adenoma
Follicular adenoma, oxyphilic cell
Oncocytoma
clear cell adenoma
An adenoma that is composed_of cells with a clear cytoplasm located_in ovary.
bronchus adenoma
Bronchial adenoma
adenoma of the bronchus
acidophil adenoma
Eosinophil adenoma
brain angioma
prolactinoma
PITUITARY ADENOMA, PROLACTIN-SECRETING
Prolactinoma of Pituitary gland
familial prolactinoma
functioning pituitary adenoma
Secretory adenoma of the Pituitary gland
prolactin producing pituitary tumor
A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin.
Prolactin Secreting tumor of Pituitary
Prolactin Secreting tumour of Pituitary
Prolactin-Producing Pituitary Gland Carcinoma
malignant Prolactinoma
malignant prolactin producing neoplasm of pituitary gland
prolactin producing pituitary tumour
obsolete ductal adenoma
lipoadenoma
An adenoma that is composed_of epithelial cells admixed with adipose tissue cells.
obsolete ovine pulmonary adenomatosis
A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin.
Jaagziekte (disorder)
ovine pulmonary adenomatosis
pulmonary adenomatosis
pulmonary adenomatosis (morphologic abnormality)
hyperopia
A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back.
Far-sightedness
farsightedness
hypermetropia
obsolete trabecular adenoma
Trabecular adenoma
Trabecular adenoma (morphologic abnormality)
water-clear cell adenoma
An adenoma that derives_from epithelial cells which have clear cytoplasm.
vaginal adenoma
A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin.
microcystic adenoma
A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.
obsolete atypical adenoma
Atypical adenoma (morphologic abnormality)
lung small cell carcinoma
A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.
obsolete convergence insufficiency or palsy
pulmonary neuroendocrine tumor
lung oat cell carcinoma
oat cell carcinoma
lung occult small cell carcinoma
Occult small cell carcinoma of the lung
occult small cell carcinoma of lung
obsolete recurrent small cell lung cancer
relapsed small cell carcinoma of the lung
schizoaffective disorder
A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
obsolete combined carcinoma of lung
Combined carcinoma of the lung
obsolete central nervous system hemangioblastoma
Hemangioblastoma of the CNS
ovarian hyperstimulation syndrome
An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.
secondary Meig's syndrome
urinary bladder villous adenoma
villous adenoma of urinary bladder
bladder flat intraepithelial lesion
Flat Intraepithelial Lesion of the urinary bladder
obsolete intraurothelial neoplasia
bladder papillary transitional cell neoplasm
urinary bladder Papillary Urothelial neoplasm
urinary tract papillary transitional cell benign neoplasm
Inverted papilloma of urinary tract
Papillary transitional cell neoplasm of the urinary tract
urinary tract inverted papilloma
scrapie
variant Creutzfeldt-Jakob disease
bovine spongiform encephalopathy
intrahepatic bile duct adenoma
A bile duct adenoma located_in an intrahepatic bile duct.
adenoma of the Intrahepatic bile duct
adenoma of intrahepatic bile duct
extrahepatic bile duct adenoma
A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium.
adenoma of the extrahepatic bile duct
adenoma of extrahepatic bile duct
papillary hidradenoma
eccrine acrospiroma
Eccrine hidradenoma
Eccrine hidradenoma of skin
Poroma
clear cell hidradenoma
Clear cell myoepithelioma
spiradenoma
Eccrine spiradenoma
Eccrine spiradenoma of skin
benign eccrine spiradenoma
syringocystadenoma papilliferum
papillary syringadenoma
eccrine papillary adenoma
A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time.
Eccrine papillary adenoma of skin
papillary eccrine adenoma
obsolete pulmonary vascular disorder
obsolete spinal vascular disorder
laryngeal neuroendocrine tumor
laryngeal neuroendocrine tumour
neuroendocrine tumor of Larynx
neuroendocrine tumour of Larynx
obsolete contagious pleuropneumonia
A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides).
obsolete primary Mycoplasma infectious disease
Eaton's agent infection (disorder)
Mycoplasma infection (disorder)
Mycoplasma infection with Eaton's agent
Mycoplasma infection, unspecified (disorder)
Mycoplasmosis (disorder)
disease caused by Mycoplasma [Ambiguous]
disease caused by Mycoplasma, NOS
obsolete African swine fever
A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia.
African swine fever
African swine fever (disorder)
swine hemorrhagic fever
cochlear disease
conjunctival intraepithelial neoplasm
A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium.
Intraepithelial Neoplasia of Conjunctiva
biliary papillomatosis
A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
bile duct papillomatosis
biliary tract intraductal papillary mucinous neoplasm
obsolete tumor of the thecoma fibroma group
ovarian serous adenofibroma
An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid.
uterine corpus adenofibroma
An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
adenofibroma of Corpus Uteri
adenofibroma of uterine corpus
cervical adenofibroma
A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
clear cell adenofibroma
An adenofibroma that is characterized by the presence of cells with clear cytoplasm.
fallopian tube adenofibroma
A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
papillary adenofibroma
An adenofibroma that is characterized by finger-like projections on histology.
obsolete malignant hypertensive heart disease
malignant hypertensive heart disease (disorder)
malignant hypertensive heart disease NOS (disorder)
ovarian endometrioid adenofibroma
An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue.
cystadenofibroma
An ovarian benign neoplasm that is composed_of epithelial ovarian tissue.
fibrous synovial sarcoma
fibrous sarcoma of Synovium
synovial sarcoma
A synovium cancer which develops in the synovial membrane of the joints.
obsolete metastatic synovial sarcoma
spindle cell synovial sarcoma
Synovial sarcoma with spindle cell Components
Synovial sarcoma, monophasic fibrous
mediastinum synovial sarcoma
A synovial sarcoma that is located_in the mediastinum.
Synovial sarcoma of mediastinum
obsolete adult synovial sarcoma
An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system.
obsolete pediatric synovial sarcoma
biphasic synovial sarcoma
Biphasic sarcoma of Synovium
Synovial sarcoma, biphasic
obsolete recurrent synovial sarcoma
relapsed Synovial sarcoma
epithelioid cell synovial sarcoma
Synovial sarcoma, epithelioid cell
epithelioid Synovial sarcoma
monophasic synovial sarcoma
Monophasic sarcoma of Synovium
obsolete nonmetastatic synovial sarcoma
Non-metastatic Synovial sarcoma
obsolete Hepadnaviridae infectious disease
A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses.
cellular ependymoma
Pediculus humanus capitis infestation
A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.
Pediculosis capitis
Pediculus capitis
Pediculus capitis infestation
head louse infestation
tanycytic ependymoma
papillary ependymoma
clear cell ependymoma
brain stem ependymoma
A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
Ependymoma of the Brainstem
childhood ependymoma
toxic pneumonitis
A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
acute chemical fume pulmonary edema
acute chemical pulmonary edema
pineal dysgerminoma
dysgerminoma of ovary
A dysgerminoma that is located_in the ovary.
Ovarian Dysgerminoma
Pediculus humanus corporis infestation
A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever.
Pediculus corporis
Pediculus humanus infestation
body louse infestation
breast squamous cell carcinoma
A breast metaplastic carcinoma that arises from squamous epithelial cells.
SCC of breast
breast primary squamous cell carcinoma
primary squamous cell carcinoma of the breast
primary squamous cell carcinoma of breast
squamous cell carcinoma of breast
nasal cavity squamous cell carcinoma
A nasal cavity carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of the nasal cavity
squamous cell carcinoma of nasal cavity
gastric squamous cell carcinoma
A squamous cell carcinoma that is located_in the stomach.
squamous cell carcinoma of stomach
penis squamous cell carcinoma
A penis carcinoma that has_material_basis_in squamous cells.
Epidermoid cell carcinoma of penis
squamous cell carcinoma of penis
colon squamous cell carcinoma
A squamous cell carcinoma that is located_in the colon.
Colonic Epidermoid carcinoma
squamous cell carcinoma of colon
keratinizing squamous cell carcinoma
A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.
keratinizing epidermoid carcinoma
squamous cell carcinoma, keratinizing
basaloid squamous cell carcinoma
A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.
Basaloid carcinoma
adenoid squamous cell carcinoma
A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis.
Acantholytic squamous cell carcinoma
Pseudoglandular squamous carcinoma
adenoacanthoma
adenocarcinoma with squamous metaplasia
anal squamous cell carcinoma
An anal carcinoma that arises near the squamocolumnar junction.
Epidermoid anal carcinoma
middle ear squamous cell carcinoma
A middle ear carcinoma that has_material_basis_in squamous cells.
Epidermoid carcinoma of the middle ear
squamous cell carcinoma of middle ear
ampulla of Vater squamous cell carcinoma
An ampulla of Vater carcinoma that derives_from epithelial squamous cells.
rectum squamous cell carcinoma
A squamous cell carcinoma that is located_in the rectum.
squamous carcinoma of rectum
squamous cell carcinoma of the rectum
lacrimal gland squamous cell carcinoma
A squamous cell carcinoma that is located_in the lacrimal gland.
Epidermoid carcinoma of the lacrimal gland
squamous cell carcinoma of lacrimal gland
thymus squamous cell carcinoma
A squamous cell carcinoma that is located_in the thymus.
Epidermoid Thymic carcinoma
ovarian squamous cell carcinoma
An ovarian carcinoma that derives_from squamous epithelial cells.
ovarian squamous cell neoplasm
squamous cell carcinoma of ovary
Retired NCI concept.
obsolete ovarian squamous cell neoplasm
An ovary epithelial cancer that has_material_basis_in squamous cells.
endometrial squamous cell carcinoma
An endometrial carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of Endometrium
renal pelvis squamous cell carcinoma
A squamous cell carcinoma that is located_in the renal pelvis.
Epidermoid carcinoma of the kidney Pelvis
squamous cell carcinoma of renal pelvis
gallbladder squamous cell carcinoma
A squamous cell carcinoma that is located_in the gallbladder.
Epidermoid gallbladder carcinoma
squamous cell carcinoma of the gallbladder
sarcomatoid squamous cell skin carcinoma
spindle cell (sarcomatoid) squamous cell carcinoma
spindle cell (sarcomatoid) squamous cell skin carcinoma
spindle cell squamous carcinoma of skin
spindle cell squamous cell carcinoma
squamous cell carcinoma, sarcomatoid
squamous cell bile duct carcinoma
A squamous cell carcinoma that is located_in the bile duct.
bile duct squamous cell carcinoma
external ear squamous cell carcinoma
A squamous cell carcinoma that is located_in the external ear.
Epidermoid carcinoma of the External ear
squamous cell carcinoma of external ear
ureter squamous cell carcinoma
A squamous cell carcinoma that is located_in the ureter.
ureteral Epidermoid carcinoma
fallopian tube squamous cell carcinoma
A fallopian tube carcinoma that derives_from squamous epithelial cells.
squamous cell carcinoma of the fallopian tube
anal neuroendocrine tumor
anal neuroendocrine tumour
neuroendocrine tumor of anus
neuroendocrine tumour of anus
femoral cancer
A bone cancer that is located_in the femur.
cancer of the femur
neoplasm of femur
femoral neoplasm
pulmonary artery choriocarcinoma
A choriocarcinoma that is located_in the pulmonary artery.
Syncytioma of pulmonary artery
pulmonary artery disease
An artery disease that is located in the lungs.
obsolete CNS choriocarcinoma
Choriocarcinoma of CNS
choriocarcinoma of ovary
A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells.
Ovarian Choriocarcinoma
choriocarcinoma of the testis
A choriocarcinoma that is located_in the testis.
testicular Choriocarcinoma
obsolete mediastinum choriocarcinoma
Choriocarcinoma of mediastinum
pineal region choriocarcinoma
Pineal Choriocarcinoma
mediastinal mesenchymal tumor
mediastinal mesenchymal tumour
soft tissue tumor of mediastinum
soft tissue tumour of mediastinum
gastric teratoma
A teratoma that is located_in the stomach or other gastric tissue.
teratoma of stomach
obsolete dermoid cyst with malignant transformation
Dermoid cyst with malignant transformation (morphologic abnormality)
teratoma with malignant Transformation
teratoma with malignant transformation (morphologic abnormality)
teratoma with malignant transformation [dup] (morphologic abnormality)
malignant teratoma
A teratoma that is cancerous.
Immature teratoma
Teratoma, malignant, NOS
malignant Extragonadal teratoma
primary malignant extragonadal teratoma
fallopian tube teratoma
A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
adult teratoma
A benign teratoma that is present in an adult.
mature teratoma
A teratoma that is composed exclusively of mature tissues derived from two or three germ layers.
mediastinum teratoma
A teratoma that is located_in the mediastinum.
teratoma of mediastinum
malignant syringoma
Microcystic Adnexal carcinoma
Microcystic adnexal carcinoma of skin
Syringomatous carcinoma
malignant acrospiroma
Eccrine ductal carcinoma
Eccrine ductal carcinoma of skin
anaplastic syringoma
Beckwith-Wiedemann syndrome
A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
obsolete classical swine fever
A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin.
Hog cholera (disorder)
VIPoma
VIP- Secreting tumor
Vasoactive intestinal peptide-secreting tumor
Vipoma, malignant
malignant vasoactive intestinal peptide-secreting tumor
obsolete delayed puberty
Delay in sexual development and/or puberty
Delayed puberty
Delayed puberty (& [NOS])
Delayed puberty (disorder)
Delayed puberty NOS
delayed puberty
inhibited male orgasm
male Orgasmic disorder
gastrinoma
A neuroendocrine tumor that results_in an overproduction of gastric acid.
Gastrin Secreting tumor
Gastrin cell tumour
malignant gastrinoma
obsolete small intestinal gastrinoma
small intestinal G-cell gastrin producing tumor
gastric gastrinoma
gastric G-cell gastrin producing tumor
obsolete acute pyelonephritis without lesion of renal medullary necrosis
pancreatic gastrinoma
pancreatic G-cell tumor
lung giant cell carcinoma
A lung carcinoma that is located_in large undifferentiated cells.
Giant cell carcinoma
Giant cell lung carcinoma
Ferguson-Smith tumor
Multiple self-healing epithelioma of Ferguson-Smith
Volkmann contracture
A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles.
Volkmann's ischemic contracture
lung papillary adenocarcinoma
A papillary adenocarcinoma that is located_in the lung.
Papillary adenocarcinoma of the lung
acute pyelonephritis
aggressive digital papillary adenocarcinoma
A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential.
sweat gland carcinoma
carcinoma of the Sweat gland
eccrine papillary adenocarcinoma
Digital papillary adenocarcinoma
breast papillary carcinoma
A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.
Papillary carcinoma of the breast
breast solid papillary carcinoma
papillary carcinoma of breast
solid papillary carcinoma of the breast
gastric papillary adenocarcinoma
A papillary adenocarcinoma that is located_in the stomach.
Papillary adenocarcinoma of stomach
obsolete intraductal papillary adenocarcinoma with invasion
Intraductal Papillary adenocarcinoma with Invasion
Intraductal papillary adenocarcinoma with invasion (morphologic abnormality)
papillary thymic adenocarcinoma
Papillary carcinoma of the Thymus
fallopian tube papillary adenocarcinoma
A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern.
Papillary adenocarcinoma of the fallopian tube
fallopian tube serous adenocarcinoma
A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
obsolete precursor T-lymphoblastic lymphoma/leukemia
jaw-winking syndrome
A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw.
Jaw-blinking
Marcus-Gunn syndrome
Pterygoid-levator synkinesis
abnormal innervation syndrome of eyelid
obsolete precursor lymphoblastic lymphoma/leukemia
obsolete T-cell neoplasm
T-cell adult acute lymphocytic leukemia
An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells.
Acute Adult T-cell Leukemia-Lymphoma
adult Precursor T Lymphoblastic Leukemia
breast medullary carcinoma
A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology.
Medullary breast carcinoma with lymphoid Stroma
medullary carcinoma of breast
dental pulp calcification
pulp calcification
pulp calcifications
pulpal calcifications
obsolete congenital adrenal gland disorder
obsolete anaplastic intraspinal meningioma
malignant Intraspinal meningioma
obsolete anaplastic meningioma
anaplastic (malignant) meningioma
malignant meningioma (morphologic abnormality)
meningioma, malignant (morphologic abnormality)
spinal canal intradural extramedullary neoplasm
Intradural Extramedullary Spinal tumors
obsolete intraepithelial neoplasm
epithelial Dysplasia
epithelial dysplasia (morphologic abnormality)
obsolete Major puerperal infectious disease
adenosquamous breast carcinoma
A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma.
adenosquamous bile duct carcinoma
A bile duct carcinoma that derives_from squamous cells and gland-like cells.
bile duct Adenosquamous carcinoma
esophageal adenosquamous carcinoma
An esophageal carcinoma that derives_from squamous cells and gland-like cells.
thymus adenosquamous carcinoma
A thymic carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the Thymus
adenosquamous gallbladder carcinoma
A gallbladder carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the gallbladder
adenosquamous carcinoma of gallbladder
ampulla of Vater adenosquamous carcinoma
An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells.
adenosquamous colon carcinoma
A colon carcinoma that derives_from squamous cells and gland-like cells.
Colonic Adenosquamous carcinoma
adenosquamous carcinoma of colon
obsolete primary Fusobacteriaceae infectious disease
Bartholin's gland adenosquamous carcinoma
A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells.
Bartholin gland adenosquamous carcinoma
endometrial adenosquamous carcinoma
An endometrial carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of Endometrium
optic nerve sheath meningioma
meningioma of optic nerve sheath
obsolete visual pathway meningioma
meningioma of the optic tract
adenosquamous prostate carcinoma
A prostate carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of the prostate
adenosquamous carcinoma of prostate
gastric adenosquamous carcinoma
Adenosquamous carcinoma of stomach
cervical adenosquamous carcinoma
A cervical carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of cervix
Adenosquamous cell carcinoma of the Cervix Uteri
pancreatic adenosquamous carcinoma
A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of pancreas
adenosquamous carcinoma of the pancreas
malignant giant cell tumor of soft parts
malignant Giant cell neoplasm of soft Parts
diffuse pulmonary fibrosis
A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
localized pulmonary fibrosis
A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
urethral villous adenoma
tricuspid valve prolapse
choroid plexus carcinoma
A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
obsolete solid carcinoma
solid carcinoma NOS (morphologic abnormality)
solid carcinoma with mucin formation
bilateral hypoactive labyrinth
Hypoactive bilateral labyrinthine dysfunction
Hypoactive labyrinth, bilateral
obsolete anaplastic carcinoma
A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation.
anaplastic carcinoma
carcinoma, anaplastic (morphologic abnormality)
carcinoma, anaplastic type, NOS (morphologic abnormality)
obsolete metaplastic carcinoma
Metaplastic carcinoma (morphologic abnormality)
chiasmal syndrome
An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve.
chiasma syndrome
disorder of optic chiasm
lipid-rich carcinoma
A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids.
obsolete invasive carcinoma
A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule.
lymphoepithelioma-like carcinoma
A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells.
Nasopharyngeal type Undifferentiated carcinoma
lymphoepithelial carcinoma
obsolete helicobacter pylori-related carcinoma
comedo carcinoma
A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.
Comedocarcinoma
cribriform carcinoma
A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells.
ductal carcinoma, cribriform type
malignant extragonadal nonseminomatous germ cell tumor
An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen.
primary malignant Extragonadal Nonseminoma
nerve fibre bundle defect
Retinal nerve fiber bundle defects
Retinal nerve fiber bundle deficiency
embryonal testis carcinoma
An embryonal carcinoma that is located_in the testis.
Embryonal carcinoma of testis
testicular embryonal carcinoma
embryonal carcinoma of the testis
ovarian embryonal carcinoma
An embryonal carcinoma that is located_in the ovary.
Embryonal carcinoma of ovary
Embryonal carcinoma of the Ovary
hereditary breast ovarian cancer syndrome
A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
Breast and Ovarian Cancer syndrome
HBOC syndrome
Hereditary Breast and Ovarian Cancer syndrome
Hereditary breast and ovarian cancer
spondyloepimetaphyseal dysplasia, Sponastrime type
A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
Spondylar and nasal Alterations-Striated Metaphyses syndrome
sponastrime dysplasia
obsolete flat adenoma syndrome
Werner syndrome
A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.
Werner's syndrome
adult premature ageing syndrome
adult progeria
well-differentiated liposarcoma
A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes.
atypical lipomatous tumor
cellular myxoid liposarcoma
A liposarcoma characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.
round cell liposarcoma
adult liposarcoma
esophagus liposarcoma
Liposarcoma of esophagus
Liposarcoma of oesophagus
oesophagus liposarcoma
childhood liposarcoma
pediatric liposarcoma
larynx liposarcoma
A liposarcoma that is located_in the larynx.
Liposarcoma of Larynx
liposarcoma of the ovary
An ovary sarcoma that arises from fatty tissue.
Liposarcoma of Ovary
fibroblastic liposarcoma
kidney liposarcoma
A liposarcoma that is located_in the kidney.
Liposarcoma of kidney
aortic valve insufficiency
An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
Rheumatic aortic insufficiency
Rheumatic aortic regurgitation
Rheumatic aortic valve regurgitation
aortic incompetence
aortic insufficiency
aortic regurgitation
rheumatic aortic valve insufficiency
Corrigan's disease
gastric liposarcoma
Liposarcoma of the stomach
breast liposarcoma
A breast sarcoma that arises from fat cells.
Liposarcoma of the breast
pleomorphic liposarcoma
mixed liposarcoma
A liposarcoma characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.
sclerosing liposarcoma
spindle cell liposarcoma
obsolete liposarcoma nonmetastatic
Non-metastatic Liposarcoma
obsolete liposarcoma metastatic
obsolete mixed-type liposarcoma
median neuropathy
obsolete liposarcoma recurrent
relapsed Liposarcoma
vulvar liposarcoma
A vulvar sarcoma that has_material_basis_in adipocytes.
cutaneous liposarcoma
Liposarcoma of the skin
mediastinum liposarcoma
A liposarcoma that is located_in the mediastinum.
Liposarcoma of mediastinum
intracranial liposarcoma
functionless pituitary adenoma
Non-Functioning neoplasm of the Pituitary
Non-Secretory adenoma of the Pituitary gland
hormone producing pituitary cancer
Pituitary tumors, Hormone Producing
Somatotropinoma
growth hormone producing pituitary tumor
obsolete recurrent pituitary tumor
relapsed tumor of Pituitary
adrenal neuroblastoma
An adrenal gland cancer that derives_from immature neuroblastic cells.
neuroblastoma of Adrenal gland
obsolete neuroblastomas of the adrenal gland and sympathetic nervous system
Neuroblastomas of Adrenal gland and Sympathetic nervous system
seminal vesicle cystadenoma
A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle.
rete ovarii cystadenoma
A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces.
rete ovarii adenoma
A rete ovarii benign neoplasm that derives_from glandular epithelial cells.
uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease
A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections.
diffuse peritoneal leiomyomatosis
A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle.
leiomyomatosis peritonealis disseminata
intravenous leiomyomatosis
A leiomyomatosis that is located within the blood vessels.
salpingitis isthmica nodosa
A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation.
pyosalpinx
Pyosalpingitis
obsolete secondary myelofibrosis
small intestinal vasoactive intestinal peptide producing tumor
small intestinal VIP Producing tumor
small intestinal VIP Producing tumour
small intestinal vasoactive intestinal peptide producing tumour
pancreatic vasoactive intestinal peptide producing tumor
pancreatic VIP Producing tumor
pancreatic VIP Producing tumour
pancreatic vasoactive intestinal peptide producing tumour
pancreatic acinar cell adenocarcinoma
A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
pancreatic acinar cell carcinoma
acinic cell breast carcinoma
A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation.
ovary serous adenocarcinoma
An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).
malignant ovarian serous tumor
serous carcinoma of Ovary
ovarian serous cystadenocarcinoma
An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed.
serous cystadenoma
uterine ligament serous adenocarcinoma
A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
rheumatic pulmonary valve disease
Rheumatic disease of pulmonary valve
Rheumatic pulmonary incompetence
endometrial serous adenocarcinoma
A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia.
uterine corpus serous adenocarcinoma
uterine papillary serous carcinoma
uterine serous carcinoma
pancreatic serous cystadenocarcinoma
A serous cystadenocarcinoma that is located_in the pancreas.
serous cystadenocarcinoma of pancreas
cervical serous adenocarcinoma
A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
endocervicitis
A cervicitis that is located_in the endocervix.
malignant mesenchymoma
Mesenchymoma, malignant
sebaceous breast carcinoma
A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma.
vulvar sebaceous carcinoma
A vulva carcinoma that is characterized by the presence of sebaceous secretions.
lung clear cell-sugar-tumor
lung meningioma
lung primary meningioma
primary pulmonary meningioma
pulmonary meningioma
obsolete primary ectopic meningioma
pulmonary sclerosing hemangioma
Pneumocytoma
hilar lung neoplasm
lung Hilum tumor
neoplasm of hilus of lung
Nager acrofacial dysostosis
An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
AFD
Nager syndrome
acrofacial dysostosis 1, Nager type
preaxial acrofacial dysostosis
preaxial manibulofacial dysostosis
verruciform xanthoma of skin
Cutaneous Verruciform Xanthoma
Verruciform xanthoma
obsolete Mycobacterium avium-intracellulare lymphadenitis
MAI lymphadenitis
obsolete Mycobacterium avium complex lymphadenitis
MAC lymphadenitis
oral submucous fibrosis
A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.
Oral cavity Submucous Fibrosis
Oral submucosal fibrosis
Oral submucosal fibrosis, including of tongue
giant hemangioma
cavernous hemangioma of colon
Colonic Cavernous hemangioma
cavernous hemangioma of face
rectum neuroendocrine neoplasm
neuroendocrine tumor of rectum
obsolete urination disorder
urination disorder
atrophic flaccid tympanic membrane
esophageal neuroendocrine tumor
esophageal neuroendocrine tumour
neuroendocrine tumor of esophagus
neuroendocrine tumour of oesophagus
obsolete recurrent hepatoblastoma
relapsed Hepatoblastoma
obsolete recurrent childhood cancer of liver
relapsed pediatric cancer of the Liver
mixed hepatoblastoma
mixed epithelial and mesenchymal hepatoblastoma
hepatoblastoma
obsolete resectable hepatoblastoma
obsolete hepatoblastoma with pure fetal epithelial differentiation
obsolete nonresectable hepatoblastoma
Non-Resectable Hepatoblastoma
obsolete mixed hepatoblastoma with teratoid features
macrotrabecular hepatoblastoma
uric acid nephrolithiasis
A nephrolithiasis that is characterized by stones composed predominantly uric acid.
acute urate nephropathy
obsolete hepatoblastoma with combined fetal epithelial differentiation
discrete subaortic stenosis
subvalvular aortic stenosis
An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction.
stork bite
Salmon patch nevus
Unna's nevus
childhood parosteal osteogenic sarcoma
obsolete gouty nephropathy
adenosine deaminase deficiency
A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.
ADA
MHC class II deficiency
A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
BLSII
SCID due to absent class II HLA antigens
bare lymphocyte syndrome type II
purine nucleoside phosphorylase deficiency
A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
PNP deficiency
Purine-Nucleoside Phosphorylase deficiency
deficiency of inosine phosphorylase
cerebral lymphoma
A cerebrum cancer that affects the lymph cells and derives_from the brain.
brain primary lymphoma
primary Lymphoma of Cerebrum
primary cerebral lymphoma
obsolete ALPS-associated lymphoma
obsolete localized lymphoma
composite lymphoma
A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.
methotrexate-associated lymphoproliferation
gray zone lymphoma
A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.
adult lymphoma
breast lymphoma
A breast cancer that arises_from lymphocytes.
Lymphoma of the breast
lymphoma of breast
malignant lymphoma of breast
endometrioid ovary carcinoma
An ovary adenocarcinoma that has_material_basis_in endometrial tissue.
Ovarian endometrioid carcinoma
endometrioid carcinoma ovary
endometrioid carcinoma of ovary
uterine ligament endometrioid adenocarcinoma
A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
cervical endometrioid adenocarcinoma
A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
endometrioid carcinoma of the Cervix Uteri
fallopian tube endometrioid adenocarcinoma
A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin.
endometrioid carcinoma of the fallopian tube
fallopian tube endometrioid cancer
fallopian tube endometrioid neoplasm
obsolete metastatic endometrioid carcinoma
spermatocytoma
spermatocytic seminoma
extragonadal seminoma
primary extragonadal seminoma
testis seminoma
Seminoma of testis
Seminoma testis
testicular Seminoma Pure
posteroinferior myocardial infarction
myocardial infarction
A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Myocardial infarct
heart attack
anterolateral myocardial infarction
septal myocardial infarction
posterior myocardial infarction
apical myocardial infarction
subendocardial myocardial infarction
inferior myocardial infarction
posterolateral myocardial infarction
inferolateral myocardial infarct
lateral myocardial infarction
silent myocardial infarction
anteroseptal myocardial infarction
obsolete secondary chondrosarcoma
periosteal chondrosarcoma
myxoid chondrosarcoma
localized chondrosarcoma
obsolete recurrent chondrosarcoma
relapsed chondrosarcoma
obsolete metastatic chondrosarcoma
juxtacortical chondrosarcoma
clear cell chondrosarcoma
obsolete tuberculous lung cavity
A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum.
cavitary tuberculosis
tuberculous cavity of lung
eosinophilic pneumonia
A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night.
Pneumonia, eosinophilic
pulmonary eosinophilia
A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs.
obsolete placental necrosis
retroperitoneal germ cell neoplasm
germ cell tumor of Retroperitoneum
endocardium cancer
malignant Endocardial tumor
malignant neoplasm of endocardium
malignant tumor of endocardium
benign intermediate mesothelioma
Well-differentiated Papillary tumor of Mesothelium
obsolete mixed embryonal carcinoma and teratoma with seminoma of the testis
mixed Embryonal carcinoma and teratoma with Seminoma of testis
obsolete congenital cystic kidney disease
anaplastic ependymoma
Ependymoma, anaplastic
Undifferentiated Ependymoma
malignant adult ependymoma
childhood malignant mesenchymoma
adult malignant mesenchymoma
clear cell cystadenofibroma
A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm.
ovarian clear cell cystadenofibroma
An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
ovarian clear cell adenofibroma
An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
meningeal melanocytoma
A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
Leptomeningeal melanocytoma
melanocytoma of meninges
penis non-invasive verrucous carcinoma
Non-Invasive Penile verrucous carcinoma
penis verrucous carcinoma
verrucous squamous carcinoma of penis
brachial plexus neoplasm
tumor of the Brachial Plexus
diffuse sclerosing papillary thyroid carcinoma
A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.
Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma
Diffuse sclerosing papillary thyroid cancer (DSPTC)
Nonencapsulated Sclerosing neoplasm
Papillary carcinoma, diffuse sclerosing
diffuse sclerosing PTC
nonencapsulated sclerosing carcinoma
uterus intravascular leiomyomatosis
An uterine corpus leiomyomatosis that is located_in the blood vessels.
Intravascular leiomyomatosis of Uterus
uterine corpus leiomyomatosis
An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells.
uterine corpus diffuse leiomyomatosis
An uterine corpus leiomyomatosis that is located throughout the uterine corpus.
obsolete localized unresectable adult primary liver cancer
localized Unresectable adult Liver carcinoma
obsolete localized unresectable adult primary hepatoma
obsolete malignant fibrous histiocytoma metastatic
adult brainstem mixed glioma
adult brain stem mixed glioma
adult brainstem astrocytoma
distal biliary tract carcinoma
carcinoma of the Distal biliary tract
obsolete recurrent extrahepatic bile duct cancer
recurrent extrahepatic bile duct carcinoma
extrahepatic bile duct small cell adenocarcinoma
Oat cell extrahepatic bile duct carcinoma
obsolete autosomal recessive polycystic kidney
Polycystic kidney disease, infantile type (disorder)
Polycystic kidney, autosomal recessive
agoraphobia
A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
Fear of open spaces
obsolete unresectable extrahepatic bile duct cancer
Unresectable extrahepatic bile duct carcinoma
obsolete resectable bile duct cancer
Resectable bile duct cancer
obsolete localized extrahepatic bile duct cancer
localized extrahepatic bile duct carcinoma
ovarian mixed germ cell neoplasm
An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components.
mixed germ cell tumor of Ovary
obsolete autosomal dominant polycystic kidney
Polycystic kidney disease, adult type (disorder)
Polycystic kidney, autosomal dominant
panic disorder
An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
panic anxiety syndrome
obsolete lung carcinoma metastatic to the brain
angiokeratoma of mibelli
angiokeratoma circumscriptum
bladder urachal squamous cell carcinoma
bladder urachal carcinoma
urachal cancer
obsolete schistosoma hematobium-related bladder squamous cell carcinoma
kidney pelvis papillary carcinoma
A papillary carcinoma that is located_in the kidney pelvis.
Papillary carcinoma of renal Pelvis
renal pelvis papillary tumor
Papillary neoplasm of renal Pelvis
renal pelvis benign neoplasm
neoplasm of renal pelvis
tumor of kidney Pelvis
tumor of renal pelvis
obsolete human papilloma virus related vulvar squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva.
HPV-Related Vulvar squamous cell carcinoma
vulvar condylomatous carcinoma
obsolete hemispheric anaplastic astrocytoma
Undifferentiated Hemispheric astrocytoma
obsolete hamartoma of hypothalamus
Hypothalamic hamartoma
hamartoma of hypothalamus (disorder)
kidney fibrosarcoma
Fibrosarcoma of the kidney
kidney osteogenic sarcoma
A kidney sarcoma that starts in the bones and that is located in the kidney.
renal Osteogenic sarcoma
obsolete clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres
internal auditory canal meningioma
meningioma of the Internal Auditory canal
obsolete early onset breast ovarian cancer syndrome
obsolete blunt duct adenosis of breast
microglandular adenosis
A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane.
Adenosis - breast
Adenosis of the breast
apocrine adenosis of breast
A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change.
Apocrine Adenosis of the breast
animal phobia
A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all.
Fear of animals
Zoophobia
parathyroid gland benign neoplasm
An endocrine organ benign neoplasm that is located_in some parathyroid gland.
breast fibrosarcoma
A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
Fibrosarcoma of the breast
aleukemic leukemia cutis
An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood.
aleukemic leukemia
A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood.
aleukemic myelosis
obsolete mediastinum embryonal carcinoma
Embryonal carcinoma of mediastinum
embryonal carcinoma of the mediastinum
obsolete mediastinal germ cell cancer
germ cell tumor of mediastinum
malignant germ cell tumor of mediastinum
mediastinal germ cell neoplasm
adult central nervous system teratoma
teratoma of the adult central nervous system
adult central nervous system mature teratoma
central nervous system mature teratoma
A mature teratoma that is located_in the central nervous system.
Mature teratoma of the CNS
adult central nervous system immature teratoma
central nervous system immature teratoma
A malignant teratoma that is located_in the central nervous system.
Immature teratoma of the CNS
cancerophobia
Fear of getting cancer
cancer phobia
obsolete metastatic MPNST
obsolete malignant testicular Leydig cell tumor
obsolete central nervous system melanoma
melanoma of the CNS
obsolete metastasis to the parathyroid gland
metastatic tumor to the Parathyroid
selective IgE deficiency disease
A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases.
Selective IgE Immunodeficiency
Selective immunoglobulin E deficiency
AIDS phobia
obsolete disseminated squamous cell carcinoma
Disseminated squamous cell carcinoma (morphologic abnormality)
juvenile type testicular granulosa cell tumor
Juvenile granulosa cell tumor
Juvenile granulosa cell tumour
Juvenile type Granulosa cell tumor
Juvenile type Granulosa cell tumour
juvenile type granulosa cell neoplasm
juvenile type testicular granulosa cell tumour
heart fibrosarcoma
Fibrosarcoma of the Heart
cardiac fibrosarcoma
heart malignant hemangiopericytoma
A heart sarcoma that is a soft tissue sarcoma located in the heart.
malignant hemangiopericytoma of Heart
spindle cell intraocular melanoma
An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells.
Uveal spindle cell melanoma
uveal melanoma
A uveal cancer that has_material_basis_in uvea pigment cells.
melanoma of Uvea
choroid spindle cell melanoma
A malignant choroid melanoma that is located_in the choroid.
spindle cell melanoma of the Choroid
malignant choroid melanoma
malignant melanoma of choroid
melanoma of the Choroid
ciliary body spindle cell melanoma
A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles.
spindle cell melanoma of the Ciliary body
obsolete AIDS retinopathy
A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms.
telangiectatic glomangioma
flying phobia
A specific phobia that is characterized by a fear of flying.
central nervous system childhood germ cell tumor
central nervous system childhood germ cell tumour
paediatric germ cell neoplasm of CNS
pediatric germ cell neoplasm of CNS
childhood germ cell cancer
A germ cell cancer that presents in childhood.
paediatric germ cell cancer
paediatric germ cell neoplasm
pediatric germ cell cancer
pediatric germ cell neoplasm
pediatric germ cell tumor
frontal sinus Schneiderian papilloma
Schneiderian papilloma of the Frontal sinus
obsolete paranasal sinus Schneiderian papilloma
Schneiderian papilloma of Accessory sinus
nasal vestibule papilloma
papilloma of nasal vestibule
squamous papilloma of the nasal Vestibule
Brown-Sequard syndrome
Brown-Squard syndrome
urinary tract non-invasive transitional cell neoplasm
ovarian mucinous neoplasm
An ovary epithelial cancer that is characterized by the presence of mucin.
Ovarian mucinous tumor
malignant ovarian mucinous neoplasm
mucinous tumor of Ovary
obsolete resectable duodenal carcinoma
obsolete localized malignant mesothelioma
obsolete secondary malignant neoplasm to the nervous system
obsolete drop secondary malignant neoplasm to the spinal cord
Drop metastatic tumor to the Spinal Cord
obsolete spinal cord secondary cancer
metastatic tumor to the Spinal Cord
secondary malignant neoplasm of spinal cord (disorder)
obsolete childhood testicular endodermal sinus neoplasm
pediatric testicular Yolk Sac tumor
childhood testicular germ cell tumor
paediatric testicular germ cell neoplasm
paediatric testicular germ cell tumour
pediatric testicular germ cell neoplasm
pediatric testicular germ cell tumor
childhood ovarian endodermal sinus tumor
An ovarian endodermal sinus tumor that presents in childhood.
childhood ovarian endodermal sinus neoplasm
childhood ovarian endodermal sinus tumour
childhood ovarian yolk sac tumor
childhood ovarian yolk sac tumour
paediatric Ovarian Yolk Sac tumour
pediatric Ovarian Yolk Sac tumor
childhood ovarian germ cell tumor
An ovarian germ cell cancer that presents in childhood.
paediatric Ovarian germ cell neoplasm
paediatric ovarian germ cell tumour
pediatric Ovarian germ cell neoplasm
pediatric ovarian germ cell tumor
meningeal melanoma
melanoma of the leptomeninges
malignant leptomeningeal neoplasm
leptomeningeal cancer
malignant leptomeningeal tumor
malignant leptomeningeal tumour
malignant tumor of Leptomeninges
malignant tumour of Leptomeninges
obsolete predominant disturbance of emotions
acute stress disorder
An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.
traumatic stress disorder
childhood leptomeningeal melanoma
pediatric leptomeningeal melanoma
obsolete skin abnormality
adult leptomeningeal melanoma
melanoma of adult Leptomeninges
obsolete ampulla of vater intestinal type adenocarcinoma
thalamic neoplasm
malignant neoplasm of thalamus
malignant tumor of Thalamus
tumor of Thalamus
signet ring cell variant cervical mucinous adenocarcinoma
A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells.
herpetic gastritis
A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus (Simplexvirus humanalpha1 or Simplexvirus humanalpha2).
herpes gastritis
thoracic spinal canal and spinal cord meningioma
meningioma of the Thoracic Spinal canal and Spinal Cord
obsolete mixed embryonal carcinoma and teratoma of the mediastinum
Teratocarcinoma of mediastinum
obsolete mediastinum malignant teratoma
malignant mediastinal teratoma
malignant teratoma of mediastinum (disorder)
obsolete mediastinal mixed non-seminomatous germ cell tumor
mixed Non-Seminomatous germ cell tumor of mediastinum
obsolete mesenchymal hamartoma of the liver
mesenchymal hamartoma of Liver
obsolete hepatic and intrahepatic bile duct non-epithelial neoplasm
obsolete leukocyte-adhesion deficiency syndrome
jugular foramen meningioma
meningioma of the Jugular Foramen
obsolete jugular foramen neoplasm
tumor of Jugular Foramen
intracerebral cystic meningioma
cerebral convexity meningioma
Cerebral Hemispheric Convexity meningioma
lateral ventricle meningioma
meningioma of the Lateral Ventricle
renal pelvis inverted papilloma
Inverted papilloma of the kidney Pelvis
renal pelvis urothelial papilloma
obsolete AIDS-related anal cancer
An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS.
anal canal carcinoma
An anal canal cancer that derives_from epithelial cells.
anal canal and Perianal gland carcinoma
gliomatosis cerebri
A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells.
Astrocytosis cerebri
obsolete T lymphocyte deficiency
bronchitis
A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
CI - Chest infection
Chest infection
acute Bronchitis
chest cold
chronic bronchitis
recurrent wheezy bronchitis
acute bronchitis and bronchiolitis
uterine corpus epithelioid leiomyosarcoma
A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm.
nasal cavity carcinoma in situ
An in situ carcinoma that is located_in the nasal cavity.
carcinoma in situ of nasal cavities
carcinoma in situ of nasal cavity
stage 0 carcinoma of the nasal cavity
obsolete Deltaretrovirus infectious disease
A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact.
childhood choriocarcinoma of the testis
A choriocarcinoma of the testis that is present during childhood.
pediatric testicular Choriocarcinoma
childhood testicular mixed germ cell tumor
childhood testicular mixed germ cell tumour
paediatric testicular mixed germ cell tumour
pediatric testicular mixed germ cell tumor
childhood embryonal testis carcinoma
An embryonal testis carcinoma that occurs in children.
pediatric testicular Embryonal carcinoma
childhood embryonal carcinoma of the testis
familial renal papillary carcinoma
Hereditary Papillary renal carcinoma
prostatic urethra urothelial carcinoma
A prostatic urethral cancer that derives_from the urothelial lining of the prostatic urethra.
prostatic urethral cancer
A male urethral cancer that derives_from the prostatic urethra.
male urethral cancer
An urethral cancer that derives_from the male urethra.
obsolete Retroviridae infectious disease
A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses.
Retroviridae disease
disease due to Retroviridae (disorder)
uterine carcinosarcoma
A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.
mixed mullerian sarcoma of uterus
obsolete sporadic conventional renal cell carcinoma
obsolete metastatic ovarian small cell carcinoma with hypercalcemia
ovarian small cell carcinoma
An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
obsolete Cytomegalovirus gastritis
A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting.
CMV Gastritis
CMV-Related Gastritis
obsolete squamous cell carcinoma of unknown primary
obsolete lymphoproliferative disease
Duncan's syndrome
rectum Kaposi's sarcoma
A sarcoma of the rectum that results_in lesions that are located_in the rectum.
Kaposi's sarcoma of rectum
rectum Kaposi sarcoma
malignant inflammatory fibrous histiocytoma
Xanthosarcoma
inflammatory MFH
epithelioid sarcoma
A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.
epithelioid cell sarcoma
reactive arthritis
An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
Fiessinger Leroy Reiter syndrome
Post-bacterial arthropathy
Reiter disease
Reiter's disease
postdysenteric arthropathy
conventional malignant hemangiopericytoma
corneal intraepithelial neoplasm
obsolete recurrent malignant pericardial mesothelioma
pericardial mesothelioma
malignant Pericardial Mesothelioma
malignant mesothelioma of pericardium
obsolete mesothelioma malignant recurrent
relapsed malignant Mesothelioma
thyroid hyalinizing trabecular adenoma
PLAT
follicular adenoma
Follicular adenoma of the Thyroid gland
Thyroid follicular adenoma
mediastinal osteogenic sarcoma
Osteosarcoma of mediastinum
malignant mediastinum hemangiopericytoma
A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum.
malignant hemangiopericytoma of mediastinum
obsolete simian acquired immunodeficiency syndrome
A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells.
SAIDS
simian lymphoproliferative syndrome
bladder diffuse clear cell adenocarcinoma
mixed epithelial tumor of ovary
An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
Ovarian mixed epithelial tumor
Ovarian mixed epithelial tumour
mixed epithelial tumour of ovary
ovarian endometrial cancer
An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary.
endometrioid neoplasm of Ovary
malignant ovarian endometrioid tumor
ovarian endometrioid neoplasm
obsolete ovarian serous tumor
Ovarian serous tumor (morphologic abnormality)
Ovarian serous tumour
serous tumor of Ovary
ovarian papillary neoplasm
An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology.
Ovarian papillary tumor
Ovarian papillary tumour
Papillary tumor of Ovary
obsolete Lentivirus infectious disease
A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound.
Lentivirus disease
Cronkhite-Canada syndrome
A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea.
gastric Cronkhite Canada polyposis
polyposis, skin pigmentation, alopecia, and fingernail changes
peritoneal serous papillary adenocarcinoma
primary serous papillary carcinoma of peritoneum
childhood mature teratoma of the ovary
A mature teratoma of the ovary that presents in childhood.
pediatric Mature teratoma of Ovary
childhood teratoma of the ovary
An ovarian germ cell teratoma that presents in childhood.
pediatric teratoma of Ovary
ovarian biphasic or triphasic teratoma
An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.
non-invasive bladder papillary urothelial neoplasm
Papillary urothelial neoplasm of low malignant potential
bladder PUNLMP
bladder papillary neoplasm of low malignant potential
transient hypogammaglobulinemia of infancy
transient hypogammaglobulinemia
obsolete transitional cell intraepithelial neoplasm
familial renal oncocytoma
renal oncocytoma
Oncocytoma of kidney
renal epithelial Oncocytic tumor
obsolete oncocytic neoplasm
Oncocytic tumor
mediastinum seminoma
Seminoma of mediastinum
obsolete Epstein-Barr virus related carcinoma
An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects.
EBV Related carcinoma
malignant growth hormone secreting neoplasm of pituitary
malignant Somatotropinoma
chromophil adenoma of the kidney
Papillary adenoma of the kidney
type 1 papillary adenoma of the kidney
type 2 papillary adenoma of the kidney
follicular dendritic cell sarcoma
A dendritic cell sarcoma cancer that effects the follicular dendritic cells.
Follicular Dendritic cell sarcoma
Follicular dendritic cell tumour
dendritic cell sarcoma
A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
inflammatory breast carcinoma
A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli.
Inflammatory carcinoma of breast
Mastitis carcinomatosa
obsolete recurrent extraskeletal chondrosarcoma
relapsed extraskeletal chondrosarcoma
gastric cardia carcinoma
carcinoma of Cardia of stomach
gastric cardia adenocarcinoma
adenocarcinoma of Cardia of stomach
adenocarcinoma of gastric cardia
obsolete metastasis to pituitary gland
malignant thyroid stimulating hormone producing neoplasm of pituitary gland
malignant Thyrotropinoma
TSH producing pituitary tumor
TSH Secreting adenoma of the Pituitary
TSH Secreting tumor of Pituitary
TSH Secreting tumour of Pituitary
TSH producing pituitary tumour
Thyrotroph adenoma
malignant ACTH producing neoplasm of pituitary gland
malignant Corticotropinoma of the Pituitary
obsolete ACTH-producing pituitary tumor
Pituitary Corticotropin Secreting tumor
ovarian mucinous malignant adenofibroma
An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian mucinous adenocarcinofibroma
epicardium lipoma
A heart lipoma that is located_in the epicardium and derives_from fat cells.
Lipoma of Epicardium
heart lipoma
Lipoma of Heart
childhood cerebellar astrocytic neoplasm
pediatric astrocytoma of Cerebellum
obsolete recurrent pediatric cerebellar astrocytoma
relapsed pediatric astrocytoma of Cerebellum
obsolete recurrent childhood brain tumor
relapsed tumor of pediatric brain
obsolete congenital disorder of natural immunity
cerebral hemisphere lipoma
Lipoma of the Cerebral Hemisphere
obsolete intracranial lipoma
corpus callosum lipoma
Lipoma of the Corpus Callosum
obsolete Herpes simplex virus esophagitis
A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing.
herpes simplex esophagitis
viral esophagitis
obsolete prostate basal cell carcinoma
basal cell carcinoma of the prostate
ectopic thymus
obsolete metastatic transitional cell cancer of the renal pelvis and ureter
metastatic Urothelial carcinoma of the renal Pelvis and Ureter
fibromyalgia
A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.
clivus chordoma
A chordoma of skull base that is located in the clivus.
Chordoma of Clivus
clivus chondroid chordoma
A chondroid chordoma and chordoma of the clivus that is located_in the clivus.
Chondroid Chordoma of the Clivus
ovarian fetiform teratoma
A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed.
ovarian solid teratoma
A mature teratoma of the ovary that is predominantly solid with interspersed cysts.
Bartholin's gland adenocarcinoma
A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue.
Bartholin gland adenocarcinoma
adenocarcinoma of the Bartholin's gland
adenocarcinoma of bartholin's gland
tibial adamantinoma
An adamantinoma of long bone that is located_in the tibia.
Tibial adamantinoma morphology
obsolete ovarian dermoid cyst with adenocarcinoma
obsolete ovarian dermoid cyst with secondary carcinoma
obsolete ovarian dermoid cyst with secondary tumor
immature teratoma of ovary
A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies.
malignant teratoma of Ovary
adult malignant hemangiopericytoma
adult intracranial malignant hemangiopericytoma
adult malignant intracranial hemangiopericytoma
anterior optic tract meningioma
bilateral meningioma of optic nerve
Bilateral meningioma of the optic nerve
cerebellopontine angle meningioma
meningioma of the Cerebellar Pontine Angle
obsolete testicular tumor of the thecoma fibroma group
vulvar eccrine adenocarcinoma
A vulva adenocarcinoma that has_material_basis_in eccrine glands.
melanotic psammomatous malignant peripheral nerve sheath tumor
melanocytic psammomatous MPNST
malignant melanocytic neoplasm of the peripheral nerve sheath
Melanotic malignant nerve sheath tumor
Melanotic malignant peripheral nerve sheath tumor
Melanotic malignant peripheral nerve sheath tumour
melanocytic MPNST
acquired immunodeficiency syndrome
A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
AIDS
acquired Immune deficiency
acquired immune deficiency syndrome
chronic lymphocytic leukemia/small lymphocytic lymphoma
A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.
B-cell lymphocytic leukemia/small lymphocytic lymphoma
CLL/SLL
central pontine myelinolysis
A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.
osmotic demyelination syndrome
obsolete renal cell carcinoma with constitutional chromosome 3 translocations
acral lentiginous melanoma
A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes.
acral lentiginous melanoma, malignant
malignant acral lentiginous melanoma
obsolete metabolic brain disease
Metabolic encephalopathy
Metabolic encephalopathy (disorder)
hepatic osteogenic sarcoma
Osteosarcoma of Liver
hypersplenism
hypersplenia
diffuse meningeal melanocytosis
A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.
Diffuse Melanosis
Diffuse melanocytosis
Meningeal melanocytosis
obsolete demyelinating disease of central nervous system
anterior foramen magnum meningioma
meningioma of the Anterior Foramen Magnum
obsolete recurrent childhood glioma of brain stem
relapsed pediatric glioma of Brainstem
childhood brain stem glioma
pediatric glioma of the Brainstem
obsolete recurrent childhood central nervous system tumor
obsolete recurrent childhood brainstem astrocytoma
childhood brainstem astrocytoma
encephalomyelitis
Encephalitis &/or myelitis
obsolete epithelial tissue disease
metanephric adenoma
ovarian papillary cystadenoma
An ovarian cystadenoma that is characterized by the presence of finger-like projections.
double outlet right ventricle
Dextrotransposition of aorta
Double outlet right ventricle with subpulmonary ventricular septal defect
Taussig-Bing syndrome or defect
ovarian surface papilloma
An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary.
ovary papillary carcinoma
An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells.
serous Surface Papillary carcinoma of Ovary
obsolete CNS demyelinating autoimmune disease
tetralogy of Fallot
Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
obsolete demyelinating encephalopathy
pulmonary valve stenosis
childhood central nervous system mature teratoma
obsolete pediatric CNS teratoma
pediatric teratoma of central nervous system
eyelid carcinoma
carcinoma of the eyelid
cervical adenoid basal carcinoma
A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells.
progressive multifocal leukoencephalopathy
A viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.
PML
obsolete leukoencephalopathy
Leukoencephalopathy (disorder)
ovarian endometrioid malignant adenofibroma
ceruminous adenocarcinoma
obsolete ceruminous tumor
vulvar apocrine adenocarcinoma
A vulva adenocarcinoma that has_material_basis_in apocrine glands.
central nervous system fibrosarcoma
Fibrosarcoma of the CNS
cerebellar liponeurocytoma
A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation.
Lipomatous Medulloblastoma
rectal lipoma
A rectal benign neoplasm that has_material_basis_in fat tissue.
lipoma of the rectum
obsolete bone recurrent Ewing's sarcoma
mucinous cystadenofibroma
A cystadenofibroma that is characterized by the presence of mucin.
ovarian mucinous adenofibroma
An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
obsolete Polyomavirus infectious disease
A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer.
childhood teratocarcinoma of the testis
pediatric testicular Teratocarcinoma
clear cell variant infiltrating bladder urothelial carcinoma
invasive bladder transitional cell carcinoma
Invasive bladder Urothelial carcinoma
kuru
kuru encephalopathy
bladder signet ring cell adenocarcinoma
urinary bladder Signet Ring adenocarcinoma
signet ring cell adenocarcinoma of bladder
lung acinar adenocarcinoma
acinar adenocarcinoma of the lung
rete testis adenoma
A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis.
mediastinal melanocytic neurilemmoma
melanocytic Schwannoma of mediastinum
obsolete metastatic tumor to the iris
periosteal osteogenic sarcoma
periosteal osteosarcoma
breast capillary hemangioma
A breast hemangioma that is characterized by capillary-sized vessels.
Capillary Angioma of breast
breast epithelioid hemangioma
A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells.
breast Histiocytoid hemangioma
childhood myxoid chondrosarcoma
pediatric myxoid chondrosarcoma
obsolete adult myxoid chondrosarcoma
An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa.
obsolete extraskeletal myxoid chondrosarcoma
An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.
cerebellar angioblastoma
Hemangioblastoma of Cerebellum
brain stem angioblastoma
A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells.
Hemangioblastoma of Brainstem
vaginal spindle cell epithelioma
A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina.
obsolete anaplastic seminoma
Seminoma with high mitotic index
testicular Seminoma with High Mitotic Index
lung occult squamous cell carcinoma
Occult squamous cell carcinoma of the lung
occult squamous cell carcinoma of lung
glandular pattern ovarian yolk sac tumor
An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology.
hepatoid pattern ovarian yolk sac tumor
An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile.
polyvesicular vitelline pattern ovarian yolk sac tumor
An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma.
clivus meningioma
meningioma of the Clivus
Bartholin's gland adenomyoma
A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components.
Bartholin gland adenomyoma
obsolete congenital musculoskeletal abnormality
Congenital malformation and deformation of the musculoskeletal system (disorder)
Congenital malformations and deformations of the musculoskeletal system (disorder)
Congenital musculoskeletal anomalies NOS
Congenital musculoskeletal anomalies NOS (disorder)
Congenital musculoskeletal deformities
Congenital musculoskeletal deformity NOS (disorder)
Skeletal anomaly-congen
congenital musculoskeletal anomaly
mixed cell uveal melanoma
ciliary body mixed cell melanoma
malignant ciliary body melanoma
malignant melanoma of ciliary body
melanoma of the Ciliary body
choroid mixed cell melanoma
thymoma type B2
A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli.
Polygonal cell Thymoma
Thymoma, cortical
cortical thymoma
obsolete monomorphic B-cell PTLD
obsolete monomorphic PTLD
obsolete plasma cell PTLD
mature B-cell neoplasm
mature B-cell lymphocytic neoplasm
Updated outdated UMLS CUI.
overnutrition
A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
obsolete transient organic mental disorder
acne
A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
Acne varioliformis
acne vulgaris
frontalis acne
obsolete atypical meningioma
Atypical meningioma
Atypical meningioma (morphologic abnormality)
obsolete adult atypical meningioma
obsolete secondary cardiac lymphoma
secondary Heart Lymphoma
heart lymphoma
Lymphoma of Heart
angiomatous meningioma
obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma
gastric small cell carcinoma
small cell carcinoma of stomach
posterior foramen magnum meningioma
meningioma of the Posterior Foramen Magnum
ovarian clear cell malignant adenofibroma
An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
ovarian clear cell adenocarcinofibroma
obsolete hamartoma of Spinal Cord
hamartoma of the Spinal Cord
ethmoid sinus Schneiderian papilloma
Schneiderian papilloma of the ethmoid sinus
ethmoid sinus inverted papilloma
Inverted papilloma of the ethmoid sinus
obsolete metastatic testicular cancer
neurilemmoma of the pleura
Schwannoma of Pleura
posterior uveal melanoma
medium/large size posterior uveal melanoma
small size posterior uveal melanoma
uterine corpus myxoid leiomyosarcoma
A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels.
micropapillomatosis labialis
non-invasive bladder urothelial carcinoma
obsolete recurrent adult brain tumor
relapsed tumor of adult brain
obsolete Borderline malignancy papillary mucinous cystadenoma
Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality)
Papillary mucinous neoplasm of Low malignant Potential
childhood optic tract astrocytoma
pediatric visual pathway astrocytoma
childhood optic nerve glioma
glioma of the pediatric visual pathway
obsolete ovarian dermoid cyst with sebaceous adenoma
obsolete ovarian dermoid cyst with secondary sebaceous tumor
chest wall bone cancer
A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall.
malignant bone tumor of the Chest Wall
malignant bone neoplasm of chest wall
breast apocrine carcinoma
A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.
apocrine carcinoma of breast
breast oncocytic carcinoma
A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria.
oncocytic breast carcinoma
breast tubular carcinoma
A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.
Invasive tubular carcinoma of breast
invasive tubular breast carcinoma
tubular carcinoma of breast
bladder colonic type adenocarcinoma
gastric tubular adenocarcinoma
tubular adenocarcinoma of stomach
obsolete recurrent malignant peritoneal mesothelioma
relapsed malignant Mesothelioma of Peritoneum
Kummell's disease
Kummell disease
Kummell's spondylitis
Traumatic spondylopathy
obsolete spondylosis and allied disorder
Dorsal spondylosis without myelopathy
Spondylogenic compression of cervical spinal cord
Thoracic spondylosis without myelopathy
Thoracic spondylosis without myelopathy (disorder)
cervical spondylosis with myelopathy
cervical spondylosis with myelopathy (disorder)
cervical spondylosis without myelopathy
cervical spondylosis without myelopathy (disorder)
classic variant of chromophobe renal cell carcinoma
eosinophilic variant of chromophobe renal cell carcinoma
nervous system hibernoma
Hibernoma of nervous system
endobronchial leiomyoma
obsolete basaloid squamous cell carcinoma of the head and neck
Basaloid squamous cell carcinoma of head and neck
bone epithelioid hemangioma
bone hemangioma
hemangioma of bone
osseous epithelioid hemangioma
osseous hemangioma
vaginal villous adenoma
A vaginal adenoma that is a polyp that resembles colorectal villous adenoma.
obsolete unknown primary adenocarcinoma
adenocarcinoma of unknown primary
X-linked hyper IgM syndrome
A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
HIGM1
X-linked hyper-IgM immunodeficiency
XHIM
hyper-IgM immunodeficiency syndrome type 1
hyper-IgM syndrome 1
hyper-IgM syndrome type 1
immunodeficiency with hyper-IgM type 1
cerebral angioma
A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
hemangioma of Cerebrum
cervical adenoma malignum
A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma.
obsolete malignant neoplasm of nipple
malignant tumor of Nipple
nipple carcinoma
A breast carcinoma that is located_in the nipple.
scrotal angioma
hemangioma of scrotum
obsolete ovarian dermoid cyst with secondary sarcoma
obsolete ovarian dermoid cyst with leiomyosarcoma
obsolete ovarian dermoid cyst with angiosarcoma
adult central nervous system choriocarcinoma
A choriocarcinoma that is located in the central nervous system of an adult.
Choriocarcinoma of the adult central nervous system
childhood CNS choriocarcinoma
A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells.
Choriocarcinoma of the paediatric central nervous system
Choriocarcinoma of the pediatric central nervous system
paediatric CNS choriocarcinoma
pediatric CNS choriocarcinoma
angiokeratoma of Fordyce
Fordyce angiokeratoma
Fordyce's spot
Fordyce-type Angiokeratoma of scrotum
breast juvenile papillomatosis
A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years.
Juvenile papillomatosis of the breast
Baastrup's syndrome
Baastrup syndrome
Kissing spine
adult pineoblastoma
diffuse idiopathic skeletal hyperostosis
A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
Ankylosing vertebral hyperostosis
DISH
Disseminated idiopathic skeletal hyperostosis
Forestier disease
childhood central nervous system immature teratoma
breast large cell neuroendocrine carcinoma
A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin).
pulmonary large cell neuroendocrine carcinoma
cervical large cell neuroendocrine carcinoma
A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate.
obsolete papillotubular adenocarcinoma
Tubulopapillary adenocarcinoma
adenocarcinoma in Tubulovillous adenoma
adenocarcinoma in tubulovillous adenoma
obsolete regressing nevus
regressing naevus
obsolete menopausal syndrome
MENOPAUSE SYNDROME
Menopausal syndrome (disorder)
Froelich syndrome
A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
Babinski-Froelich syndrome
Froehlich syndrome
Froehlich's syndrome
Froelich's syndrome
adiposogenital syndrome
diffuse infiltrative lymphocytosis syndrome
A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells.
tooth and nail syndrome
A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Witkop's syndrome
myositis ossificans
A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
Myisitis ossificans
Ossification - muscle
Capgras syndrome
A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor.
Capgras delusion theory
delusional disorder
A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect.
obsolete diffuse leiomyomatosis syndrome
spondylolisthesis
A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
X-linked Aarskog syndrome
A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
Aarskog-Scott syndrome
Greig's syndrome
Achard syndrome
A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.
Achenbach syndrome
Paroxysmal hematoma of the finger
obsolete adherence syndrome
Fat adherence syndrome of extraocular muscle (disorder)
obsolete acroparesthesia syndrome
Aagenaes syndrome
A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.
Cholestasis-edema syndrome, Norwegian type
No OMIM mapping confirmed by DO. [SN].
Barre-Lieou syndrome
A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.
Cervicocranial syndrome
Posterior cervical sympathetic syndrome
testicular monophasic choriocarcinoma
A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells.
synchronous multifocal osteogenic sarcoma
asynchronous multifocal osteogenic sarcoma
obsolete neural tissue disease
nervous tissue disease
amphetamine abuse
A substance abuse that involves the recurring use of amphetamines despite negative consequences.
gastric fundus carcinoma
cancer of Fundus of stomach
carcinoma of fundus of stomach
obsolete recurrent stomach cancer
recurrent carcinoma of the stomach
recurrent gastric cancer
gastric pylorus carcinoma
carcinoma of Pylorus of stomach
obsolete anaplastic gastric carcinoma
Undifferentiated carcinoma of stomach
gastric body carcinoma
cancer of body of stomach
carcinoma of body of stomach
tubular variant testicular seminoma
malignant triton tumor
MPNST with Rhabdomyosarcoma
MPNST with rhabdomyoblastic differentiation
malignant Triton tumour
malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
obsolete recurrent ovarian epithelial cancer
relapsed carcinoma of Ovary
obsolete metastatic anal cancer
secondary carcinoma from the anus
anterior spinal artery syndrome
A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery.
Anterior spinal artery occlusion syndrome
obsolete circumscribed storiform collagenoma
Circumscribed Storiform Collagenoma
Circumscribed storiform collagenoma (disorder)
obsolete collagen nevus of skin
Collagen hamartoma (morphologic abnormality)
Collagen naevus
Collagen nevus
Collagen nevus of skin (disorder)
obsolete eruptive collagenoma
Eruptive collagenoma (disorder)
Littre gland carcinoma
A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands.
malignant type AB thymoma
Thymoma, mixed type, malignant
spinal stenosis
A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
Spinal stenosis of lumbar region
cervical spinal stenosis
lumbar spinal stenosis
fibrillary astrocytoma
A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.
Fibrillary Astrocytic tumors
colon small cell carcinoma
Colonic small cell carcinoma
obsolete recurrent pediatric optic nerve astrocytoma
obsolete recurrent pediatric optic nerve glioma
obsolete recurrent childhood optic tract astrocytoma
recurrent pediatric visual pathway astrocytoma
obsolete recurrent glioma of childhood visual pathway
relapsed glioma of the pediatric visual pathway
intrahepatic bile duct cystadenoma
A bile duct cystadenoma located_in an intrahepatic bile duct.
Cystadenoma of the Intrahepatic bile duct
schwannoma of jugular foramen
Neurilemmoma of Jugular Foramen
cervix small cell carcinoma
small cell carcinoma of the Cervix Uteri
small cell carcinoma of the cervix
bilateral breast cancer
A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times.
Bilateral breast carcinoma
synchronous bilateral breast carcinoma
obsolete malignant fibrous histiocytoma recurrent
relapsed malignant fibrous Histiocytoma
internal auditory canal lipoma
An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal.
Lipoma of the Internal Auditory canal
amyloid tumor
Amyloid neoplasm
amyloid tumour
chest wall lymphoma
A thoracic cancer that is located_in the chest wall.
Lymphoma of the Chest Wall
chest wall cancer
lymphoma of chest wall
malignant neoplasm of chest wall
malignant tumor of Chest Wall
bone lymphoma
A bone cancer and lymphoma by site that results_in lymphoma starting in the bone.
Lymphoma of the bone
lymphoma of bone
systemic juvenile rheumatoid arthritis
A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
Pauciarticular onset juvenile chronic arthritis
Still's disease
acute juvenile rheumatoid arthritis
juvenile chronic polyarthritis
juvenile idiopathic arthritis
juvenile rheumatoid arthritis
monarticular juvenile rheumatoid arthritis
pauciarticular juvenile arthritis
lung lymphoma
lymphoma of lung
pulmonary Lymphoma
obsolete skin lymphoma
Cutaneous lymphoma (disorder)
Cutaneous lymphoma, NOS
sternum lymphoma
Lymphoma of Sternum
lymphoma of the sternum
obsolete peripheral neuroblastoma
peripheral neuroblastoma
polyembryoma of the ovary
An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies.
breast myoepithelial carcinoma
A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation.
villoglandular endometrial endometrioid adenocarcinoma
An endometrial adenocarcinoma that is characterized by papillary differentiation.
obsolete renal pelvis and ureter localized transitional cell cancer
localized Urothelial carcinoma of the renal Pelvis and Ureter
progressive supranuclear palsy
A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
Steele-Richardson-Olszewski syndrome
progressive supranuclear ophthalmoplegia
obsolete pediatric desmoplastic small round cell tumor
desmoplastic small round cell tumor
A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass.
desmoplastic small round-cell neoplasm
childhood botryoid rhabdomyosarcoma
A botryoid rhabdomyosarcoma that presents in childhood.
childhood sarcoma Botryoides
childhood vagina botryoid rhabdomyosarcoma
A vagina botryoid rhabdomyosarcoma that presents in childhood.
vaginal childhood sarcoma Botryoides
vagina botryoid rhabdomyosarcoma
A botryoid rhabdomyosarcoma that is located_in the vagina.
vulvar childhood botryoid-type embryonal rhabdomyosarcoma
childhood sarcoma Botryoides of the Vulva
obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis
mixed Yolk Sac tumor and teratoma with Seminoma of testis
obsolete lymphomyeloid tissue disease
obsolete recurrent hematologic cancer
A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient.
recurrent Hematologic Malignancy
obsolete relapsed precursor T lymphoblastic lymphoma/leukemia
obsolete recurrent adult acute lymphocytic leukemia
A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes.
relapsed adult acute lymphoid Leukemia
colon Kaposi sarcoma
A sarcoma of colon that is located_in the colon.
Colonic Kaposi's sarcoma
obsolete hamartoma Moniliformis
Moniliform hamartoma (disorder)
obsolete Basaloid follicular hamartoma
Basal cell nevus with Comedones
retired NCI concept.
obsolete vaginal tubular adenoma
A vaginal adenoma that resembles the colorectal tubular adenoma.
juvenile pilocytic astrocytoma
A pilocytic astrocytoma that occurs during adolescence.
childhood pilocytic astrocytoma
A pilocytic astrocytoma that occurs during childhood.
pediatric Pilocytic astrocytoma
obsolete anaplastic childhood astrocytoma of brain
grade III pediatric astrocytoma of the brain
pancreatoblastoma
obsolete recurrent cancer of pancreas
relapsed pancreatic carcinoma
pancreatic solid pseudopapillary carcinoma
A pancreatic carcinoma that is characterized by its papillary architecture.
obsolete non-resectable pancreatic carcinoma
Unresectable pancreatic carcinoma
motor neuritis
peripheral motor neuropathy
obsolete resectable pancreas carcinoma
pancreatic carcinoma, Resectable
obsolete recurrent anal cancer
recurrent anal canal cancer
rete ovarii cystadenofibroma
A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells.
breast intraductal proliferative lesion
An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation.
Intraductal Proliferative Lesion
liver carcinoma
A liver cancer that has_material_basis_in epithelial cells.
Liver and Intrahepatic bile duct carcinoma
obsolete glandular cell intraepithelial neoplasm
flat ductal epithelial atypia
A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia.
kidney pelvis sarcomatoid transitional cell carcinoma
sarcomatoid transitional cell carcinoma of renal Pelvis
infiltrating ureter transitional cell carcinoma
ureter transitional cell carcinoma
transitional cell carcinoma of ureter
ureteral Urothelial cell carcinoma
familial melanoma
adult botryoid rhabdomyosarcoma
A botryoid rhabdomyosarcoma that is present in an adult.
adult vagina botryoid rhabdomyosarcoma
A vagina botryoid rhabdomyosarcoma that presents in adulthood.
obsolete testicular intratubular germ cell neoplasia of the unclassified type
A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation.
ITGCNU
testicular Intraepithelial Neoplasia
obsolete hamartoma of Eccrine Sweat gland
hamartoma of the Eccrine Sweat gland
obsolete Linear Eccrine nevus with Comedones
Porokeratotic Eccrine duct and Hair Follicle nevus
Porokeratotic eccrine ostial and dermal duct nevus (disorder)
obsolete eccrine angiomatous hamartoma
Eccrine Angiomatous nevus
Eccrine angiomatous hamartoma (disorder)
ethmoid sinus ectopic meningioma
primary Ectopic meningioma of ethmoidal sinus
pineal region teratoma
teratoma of Pineal Area
pineal region mature teratoma
A mature teratoma that is located_in the pineal region.
Mature teratoma of the Pineal Area
pineal region immature teratoma
Atypical Pineal teratoma
obsolete Endobronchial hamartoma
obsolete recurrent cancer of gallbladder
relapsed cancer of the gallbladder
oxyphilic endometrial endometrioid adenocarcinoma
An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells.
mediastinal gray zone lymphoma
mediastinal malignant lymphoma
Lymphoma of mediastinum
parasagittal meningioma
obsolete cockade nevus
Cockade nevus (disorder)
spinal cord neuroblastoma
neuroblastoma of the Spinal Cord
spinal cord primitive neuroectodermal neoplasm
Spinal Cord PNET
skin tag
A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease.
Fibroepithelial polyp
Fibroepithelial polyp of skin
cutaneous tag
soft fibroma
obsolete type 1a ALPS
obsolete mixed childhood rhabdomyosarcoma
pediatric mixed type Rhabdomyosarcoma
obsolete hamartoma of Apocrine Sweat gland
hamartoma of the Apocrine Sweat gland
small bowel fibrosarcoma
A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel.
Fibrosarcoma, small Intestine
ureter small cell carcinoma
ureteral small cell carcinoma
obsolete recurrent ureteric cancer
recurrent Ureter carcinoma
obsolete AIDS-related cervical cancer
AIDS Related carcinoma of the uterine Cervix
obsolete AIDS-related cervical Kaposi's sarcoma
AIDS-Related Kaposi's sarcoma of Cervix
obsolete AIDS-related Kaposi's sarcoma
A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS.
AIDS with Kaposi's sarcoma (disorder)
Autoimmune deficiency syndrome-Related Kaposi sarcoma
Epidemic Kaposi's sarcoma
HIV disease resulting in Kaposi's sarcoma (disorder)
obsolete Malposition and malpresentation of fetus
ovarian seromucinous carcinoma
An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements.
mixed epithelial carcinoma of Ovary
ovary mixed epithelial carcinoma
obsolete malignant ovarian mixed epithelial neoplasm
A mixed epithelial tumor of ovary that is cancerous.
obsolete hemopoetic tissue disease
obsolete childhood cancer of liver
pediatric cancer of the Liver
pediatric carcinoma of the Liver cell
removed previous disease name - familiar ovarian carcinoma, it is a typo[LS]
hereditary ovarian carcinoma
An ovary epithelial cancer that has developed in relatives of patients that have a history of ovarian carcinoma.
familial ovarian carcinoma
eye lymphoma
A lymphoma by site that is manifested in immune system cells called lymphocytes.
malignant lymphoma of eye
obsolete AIDS-related herpes zoster
A herpes zoster that is complicated_by AIDS.
glomangiomatosis
A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor.
predominantly cortical thymoma
Lymphocyte-Predominant Thymoma
Thymoma, organoid
obsolete extramucosal (perianal) adenocarcinoma
Extramucosal (Perianal) adenocarcinoma of anus
adenocarcinoma of anus within Anorectal fistula
adenocarcinoma of the anus within Anorectal fistula
extramucosal (perianal) adenocarcinoma of the anus
obsolete fibrolipomatous hamartoma of peripheral nerve
peroneal nerve paralysis
Peroneal nerve palsy
papillary extrahepatic bile duct adenocarcinoma
urinary bladder inverted papilloma
bladder transitional cell papilloma
Urothelial papilloma
bladder papilloma
transitional cell papilloma of bladder
urinary bladder Urothelial papilloma
urethra inverted papilloma
Inverted papilloma of the urethra
ureter inverted papilloma
ureteral Inverted papilloma
ureter urothelial papilloma
childhood intraocular retinoblastoma
An intraocular retinoblastoma that effects children.
pediatric intraocular retinoblastoma
childhood brain meningioma
A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin.
pediatric meningioma of brain
vulvar inverted follicular keratosis
An inverted follicular keratosis that is located_in the vulva.
vulvar seborrheic keratosis
Seborrheic Keratosis of Vulva
inverted follicular keratosis
Inverted folicular keratosis
sphenoidal sinus benign neoplasm
neoplasm of sphenoidal sinus
tumor of Sphenoidal sinus
malignant gastric teratoma
A malignant teratoma that has_material_basis_in gastric tissue.
malignant teratoma of stomach
combat disorder
An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress.
Combat Neurosis
telangiectatic osteogenic sarcoma
Telangiectatic osteosarcoma
obsolete Epstein-Barr virus related lymphoma
An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects.
EBV Related Lymphoma
obsolete intracranial melanoma
obsolete malignant intracranial neoplasm By Morphology
aleukemic monocytic leukemia cutis
An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes.
rectal cloacogenic carcinoma
transitional Zone carcinoma of rectum
Bartholin's gland squamous cell carcinoma
A Bartholin's gland carcinoma that derives_from squamous epithelial cells.
Bartholin gland squamous cell carcinoma
obsolete recurrent cancer of skin
recurrent Cutaneous carcinoma
acute canaliculitis
An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge.
acute canaliculitis, lacrimal
acute lacrimal canaliculitis
acute inflammation of lacrimal passage
bladder urothelial papillary carcinoma
urothelial papillary carcinoma of the bladder
micropapillary variant infiltrating bladder urothelial carcinoma
pancreatic cholera
Excessive vasoactive intestinal peptide secretion
Verner-Morrison syndrome
pancreatic WDHA syndrome
dentin sensitivity
Sensitive dentin
obsolete recurrent rectosigmoid cancer
relapsed Rectosigmoid cancer
obsolete recurrent colorectal cancer
Colorectal carcinoma recurrent
peripheral epithelioid sarcoma
obsolete non-neoplastic non-molar trophoblastic disorder
obsolete placental site nodule or plaque
obsolete exaggerated placental site
Exaggerated placental site (disorder)
Exaggerated placental site (morphologic abnormality)
intraocular mixed cell type melanoma
mixed cell type Uveal melanoma
iris mixed cell melanoma
malignant iris melanoma
malignant melanoma of iris
melanoma of the Iris
obsolete metastasis to the kidney
metastasis to kidney
metastatic neoplasm to the kidney
secondary malignant neoplasm of kidney
secondary malignant neoplasm of kidney (disorder)
intermediate cell type choroid melanoma
mixed cell melanoma of Choroid
intermediate cell type ciliary body melanoma
gallbladder mucinous carcinoma
Colloidal carcinoma of the gallbladder
obsolete lung recurrent squamous cell carcinoma
recurrent squamous cell carcinoma of the lung
recurrent squamous cell carcinoma of lung
obsolete lymphoid tissue disease
obsolete recurrent large cell carcinoma of lung
relapsed large cell carcinoma of the lung
obsolete recurrent adenocarcinoma of lung
lung Adenocarcinoma, recurrent
obsolete malignant vaginal mixed tumor resembling synovial sarcoma
ACTH-secreting pituitary adenoma
A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
ACTH-Producing Pituitary Adenoma
Corticotroph adenoma
Corticotropinoma
gemistocytic astrocytoma
Gemistocytic Astrocytic tumor
obsolete childhood cerebral diffuse astrocytoma
childhood cerebral astrocytoma
pediatric astrocytoma of Cerebrum
protoplasmic astrocytoma
Protoplasmic Astrocytic tumor
obsolete adult diffuse astrocytoma
obsolete recurrent thyroid carcinoma
relapsed cancer of the Thyroid
obsolete anaplastic thyroid carcinoma
anaplastic thyroid carcinoma (disorder)
sarcomatoid Thyroid carcinoma
ovarian mucinous cystadenofibroma
An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces.
infiltrating lipoma
intramuscular lipoma
obsolete deep fatty neoplasm
Deep Fatty tumor
tendon sheath lipoma
A synovium neoplasm that is located_in the tendon sheath.
Lipoma of the Tendon Sheath
lumbosacral lipoma
obsolete secondary malignant neoplasm to the adult brain
metastatic tumor to the adult brain
obsolete tooth abnormality
Congenital anomaly of teeth (disorder)
congenital dentition disorder
obsolete borderline ovarian serous neoplasm with microinvasion
mucinous intrahepatic cholangiocarcinoma
obsolete anaplastic malignant intracranial meningioma
obsolete adult malignant meningioma
WHO grade III meningioma
adult anaplastic (malignant) meningioma
obsolete site specific early onset breast cancer syndrome
bronchial mucus gland adenoma
adenoma of the Bronchial Mucus gland
adenoma of bronchial mucus gland
glottis squamous cell carcinoma
A squamous cell carcinoma that is located_in the glottis.
Epidermoid carcinoma of the Glottis
squamous cell carcinoma of glottis
bile duct clear cell adenocarcinoma
A clear cell adenocarcinoma that is located_in the bile duct.
bile duct clear cell carcinoma
anisakiasis
A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.
Infection by Anisakis larva
childhood immature teratoma of ovary
An immature teratoma of overy that presents in childhood.
pediatric Immature teratoma of Ovary
Borst-Jadassohn intraepidermal carcinoma
Bowen's disease, clonal
Intraepidermal Epithelioma of Jadassohn
uveal epithelioid cell melanoma
choroid epithelioid cell melanoma
Choroidal epithelioid cell melanoma
ciliary body epithelioid cell melanoma
obsolete metastatic vulvar cancer
metastatic Vulvar carcinoma
basaloid lung carcinoma
cervical basaloid squamous cell carcinoma
A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm.
penis basaloid carcinoma
squamous cell carcinoma of penis, Basaloid type
vulvar basaloid squamous cell carcinoma
A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm.
vulvar basaloid carcinoma
basaloid squamous cell skin carcinoma
skin Basaloid squamous cell carcinoma
Leber hereditary optic neuropathy
Leber's hereditary optic neuropathy
Leber's optic atrophy
thymus basaloid carcinoma
Basaloid carcinoma of the Thymus
esophageal basaloid squamous cell carcinoma
Basaloid squamous carcinoma of esophagus
obsolete anaplastic small cell thyroid carcinoma
Undifferentiated small cell carcinoma of the Thyroid gland
multiple skull base meningioma
obsolete precursor B lymphoblastic lymphoma/leukemia
A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
obsolete recurrent pediatric rhabdomyosarcoma
relapsed pediatric Rhabdomyosarcoma
spinal cord dermoid cyst
A dermoid cyst that is located_in the spinal cord.
Spinal Cord Dermoid
obsolete choroidal hemorrhage and rupture
Choroidal hemorrhage and rupture (disorder)
Choroidal hemorrhage or rupture NOS (disorder)
obsolete atypical vulvar nevus
breast lipid-rich carcinoma
A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.
lipid-rich breast carcinoma
malignant melanocytic peripheral nerve sheath tumor of mediastinum
mediastinal melanocytic MPNST
obsolete malignant mediastinal peripheral nerve sheath tumor
MPNST of mediastinum
adult cystic teratoma
A cystic teratoma that is present in an adult.
lung mixed small cell and squamous cell carcinoma
combined small and large cell lung cancer
small cell and large cell carcinoma of the lung
small cell and squamous cell carcinoma of the lung
mixed small cell and squamous cell carcinoma of lung
obsolete recurrent adult primary hepatoma
obsolete recurrent adult primary liver cancer
relapsed adult Liver cancer
multicentric papillary thyroid carcinoma
A papillary thyroid carcinoma arising in the thyroid gland from multiple foci.
Multifocal papillary thyroid carcinoma (PTC)
columnar cell papillary thyroid carcinoma
A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells.
Columnar cell PTC
Columnar cell variant (CCV)
columnar cell variant papillary carcinoma
tall cell papillary thyroid carcinoma
A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns.
Tall Cell Variant Thyroid Gland Papillary Carcinoma
Tall cell PTC
tall cell variant papillary carcinoma
splenic manifestation of hairy cell leukemia
hairy cell leukaemia of spleen
hairy cell leukemia of spleen
splenic manifestation of hairy cell leukaemia
childhood epithelioid sarcoma
pediatric epithelioid sarcoma
macrocystic pattern testicular yolk sac tumor
obsolete ovarian dermoid cyst with squamous cell carcinoma
diaphragma sellae meningioma
meningioma of Diaphragm Sellae
epiglottis neoplasm
Epiglottic tumor
neoplasm of epiglottis
supraglottis neoplasm
Supraglottic tumor
neoplasm of supraglottis
refractory hairy cell leukemia
A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment.
refractory hematologic cancer
A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment.
radiation cystitis
Irradiation cystitis
HCL-V
Hairy cell leukaemia variant
Hairy cell leukemia variant
urinary bladder small cell neuroendocrine carcinoma
small cell/neuroendocrine carcinoma of urinary bladder
small cell neuroendocrine carcinoma of the urinary bladder
gallbladder small cell carcinoma
Oat cell carcinoma of the gallbladder
esophagus small cell carcinoma
Oat cell carcinoma of esophagus
Oat cell carcinoma of oesophagus
oesophagus small cell carcinoma
ampulla of Vater small cell carcinoma
ampullary small cell carcinoma
cystitis cystica
A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder.
endometrial small cell carcinoma
An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium.
Bartholin's gland small cell carcinoma
A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland.
Bartholin gland small cell carcinoma
prostate small cell carcinoma
prostate Oat cell carcinoma
small cell carcinoma of prostate
thymus small cell carcinoma
small cell carcinoma of the Thymus
laryngeal small cell carcinoma
small cell carcinoma of Larynx
obsolete papillary cystic tumor
Papillary cystic neoplasm
Papillary cystic tumour
solid pseudopapillary tumour
Langerhans cell sarcoma
A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.
obsolete metastatic parathyroid cancer
metastatic Parathyroid carcinoma
obsolete T-cell lymphoblastic leukemia/lymphoma
obsolete recurrent parathyroid cancer
recurrent Parathyroid carcinoma
prostate stromal sarcoma
A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate.
Stromal sarcoma of the prostate
obsolete adult undifferentiated oligodendroglioma
obsolete anaplastic childhood oligodendroglioma
Undifferentiated pediatric Oligodendroglioma
obsolete metastatic squamous neck cancer with occult primary
squamous cell carcinoma metastatic to the neck with Occult primary
obsolete recurrent metastatic squamous cell cancer to the neck with occult primary
relapsed metastatic Epidermoid carcinoma to the neck with Occult primary
obsolete Human T-lymphotropic virus 2 infectious disease
A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis.
HTLV-II infectious disease
rectal leiomyoma
A rectal benign neoplasm that has_material_basis_in smooth muscle tissue.
leiomyoma of rectum
rectum leiomyoma
obsolete recurrent larynx cancer
relapsed carcinoma of the Larynx
obsolete mediastinum mature teratoma
Mature teratoma of mediastinum
subacute thyroiditis
De Quervain's thyroiditis
Giant-cell thyroiditis
Granulomatous thyroiditis
Subacute Granulomatous Thyroiditis
lung occult adenocarcinoma
Occult adenocarcinoma of the lung
occult adenocarcinoma of lung
lung occult large cell carcinoma
Occult large cell carcinoma of the lung
obsolete recurrent non-cutaneous melanoma
obsolete recurrent cutaneous melanoma
recurrent malignant melanoma
recurrent melanoma of skin
cloacogenic carcinoma
Cloacogenic anal carcinoma
anus basaloid carcinoma
anal Basaloid carcinoma
basaloid carcinoma of the anus
anal Buschke-Lowenstein tumor
anal Giant (malignant) Condyloma
anal canal squamous cell carcinoma
An anal canal cancer that derives_from epithelial squamous cells.
mixed eosinophil-basophil adenoma
mixed acidophil-basophil adenoma
autoimmune hemolytic anemia
A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies.
Autoimmune haemolytic anaemia
autoimmune hemolytic anaemia
benign dermal neurilemmoma
benign Schwannoma of the skin
obsolete metastatic childhood sarcoma of soft tissue
metastatic pediatric sarcoma of the soft tissue
subacute lymphocytic thyroiditis
autoimmune thyroiditis
An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
Chronic Lymphocytic Thyroiditis
Hashimoto thyroiditis
Hashimoto's Disease
Hashimoto's syndrome
Hashimoto's thyroiditis
Lymphocytic Thyroiditis
ovarian endometrioid cystadenoma
An ovarian cystadenoma that is characterized by the presence of endometrial tissue.
hereditary conventional renal cell carcinoma
maxillary sinus adenoid cystic carcinoma
adenoid cystic carcinoma of the maxillary sinus
adenoid cystic carcinoma of maxillary sinus
intermediate malignant teratoma
A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.
Intermediate Immature teratoma
malignant teratoma, intermediate
melanomatosis
lung combined large cell neuroendocrine carcinoma
pulmonary Combined large cell neuroendocrine carcinoma
combined large cell neuroendocrine carcinoma of lung
psammomatous meningioma
fibrous meningioma
Fibroblastic meningioma
meningothelial meningioma
Meningotheliomatous meningioma
transitional meningioma
transitional (mixed) meningioma
noninvasive malignant thymoma
Thymoma malignant Noninvasive
obsolete relapsed childhood ependymoma
relapsed pediatric Ependymoma
obsolete spontaneous abortion
miscarriage
gallbladder papillary carcinoma
A papillary carcioma that is located_in the gallbladder.
Papillary carcinoma of the gallbladder
gallbladder pleomorphic giant cell adenocarcinoma
Pleomorphic Giant cell adenocarcinoma of the gallbladder
breast giant fibroadenoma
A breast fibroadenoma that is larger than 5 cm.
Giant Fibroadenoma
Giant fibroadenoma of breast
spinal meninges cancer
malignant neoplasm of spinal meninges
postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
CLL/SLL with IGVH SHM
childhood CNS embryonal cell carcinoma
A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
Embryonal carcinoma of paediatric CNS
Embryonal carcinoma of pediatric CNS
paediatric CNS embryonal cell carcinoma
pediatric CNS embryonal cell carcinoma
central nervous system embryonal carcinoma
Embryonal carcinoma of CNS
embryonal carcinoma of the central nervous system
adult central nervous system embryonal carcinoma
A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
Embryonal carcinoma of the adult central nervous system
mucinous cystadenocarcinoma of pancreas
A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas.
Pancreatic Mucinous Cystadenocarcinoma
pancreatic colloid cystadenocarcinoma
pancreatic mucinous cystadenoma
pancreatic mucinous cystic neoplasm
pancreatic invasive mucinous cystadenocarcinoma
pancreatic non-invasive mucinous cystadenocarcinoma
obsolete AIDS-related gastric Kaposi's sarcoma
An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach.
AIDS-Related Kaposi's sarcoma of stomach
female stress incontinence
Stress incontinence - female
female urinary stress incontinence
uterine corpus apoplectic leiomyoma
An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle.
uterine corpus cellular leiomyoma
An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus.
bladder urachal urothelial carcinoma
obsolete metastatic endometrial adenocarcinoma
lymphoepithelioma-like acinar prostate adenocarcinoma
lymphoepithelioma-like variant acinar prostate adenocarcinoma
obsolete cerebral meninges malignant neoplasm
malignant neoplasm of cerebral meninges (disorder)
malignant neoplasm of cerebral meninges NOS (disorder)
obsolete anaplastic urethra carcinoma
Undifferentiated carcinoma of the urethra
obsolete gallbladder anaplastic carcinoma
Undifferentiated gallbladder carcinoma
selective IgD deficiency disease
A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms.
Selective IgD Immunodeficiency
Selective immunoglobulin D deficiency
removed previous name -familiar fallopian tube carcinoma - was a typo[LS]
hereditary fallopian tube carcinoma
A fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.
familial fallopian tube carcinoma
lung clear cell carcinoma
obsolete solid carcinoma of lung with mucus formation
pulmonary solid adenocarcinoma with Mucin
cribriform variant testicular seminoma
premenstrual tension
obsolete adrenal gland tuberculosis
nodular episcleritis
A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus.
congenital epulis
Congenital Epulides
uterine corpus adenocarcinofibroma
A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue.
Skene gland carcinoma
carcinoma of the paraurethral gland
paraurethral gland carcinoma
endometrial endometrioid adenocarcinoma, secretory variant
An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium.
secretory uterine corpus endometrioid adenocarcinoma
mucin-rich endometrial endometrioid adenocarcinoma
An endometrial adenocarcinoma that is characterized by the presence of abundant mucin.
obsolete recurrent childhood soft tissue sarcoma
relapsed pediatric sarcoma of the soft tissue
obsolete nonmetastatic childhood soft tissue sarcoma
Non-metastatic pediatric soft tissue sarcoma
childhood extraosseous osteosarcoma
An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood.
Childhood Extraskeletal Osteosarcoma
pediatric extraskeletal Osteosarcoma
obsolete inferior vena cava leiomyosarcoma
leiomyosarcoma of the Inferior Vena Cava
endodermal sinus pattern testicular yolk sac tumor
obsolete breast carcinoma metastatic to the brain
obsolete anaplastic oligoastrocytoma
WHO grade III mixed glioma
anaplastic oligoastrocytoma
anaplastic oligoastrocytoma (morphologic abnormality)
breast adenomyoepithelial adenosis
Jewett-Marshall bladder cancer
stage IVB urinary bladder carcinoma
Jewett-Marshall stage D1 bladder cancer
Jewett-Marshall stage D2 bladder cancer
obsolete inherited neuropathy
hereditary neuropathy
ovarian serous cystadenofibroma
An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces.
obsolete primary cerebral lymphoma in immunocompetent host
obsolete hepatitis C virus related hepatocellular carcinoma
obsolete hepatitis B virus related hepatocellular carcinoma
cranial pseudosarcomatous fasciitis
pseudosarcomatous fibromatosis
Fasciitis - nodular
Pseudosarcomatous Fasciitis
nodular fasciitis
fasciitis
A connective tissue disease characterized by inflammation located in the fascia.
iris spindle cell melanoma
A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris.
esophageal tuberculosis
A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss.
tuberculosis of esophagus
nephrogenic adenoma of urinary bladder
Nephrogenic adenoma of the urinary bladder
nephrogenic adenoma
obsolete extraocular extension of melanoma
childhood ovarian dysgerminoma
A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells.
pediatric ovarian dysgerminoma
obsolete anaplastic brainstem astrocytoma
obsolete anaplastic glioma of brain stem
Undifferentiated glioma of Brainstem
ovarian stromal hyperthecosis
An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization.
obsolete metastatic neoplasm of urethra
urethra metastatic malignant neoplasm
thymic dysplasia
obsolete localized Askin's tumor
obsolete diencephalic anaplastic astrocytoma
Undifferentiated astrocytoma of Diencephalon
rectum sarcomatoid carcinoma
sarcomatoid carcinoma of rectum
obsolete rectal anaplastic carcinoma
Undifferentiated carcinoma of rectum
obsolete recurrent rectal cancer
recurrent Rectal carcinoma
solid pattern testicular yolk sac tumor
obsolete teratoma of CNS with malignant transformation
teratoma of the central nervous system with malignant Transformation
vulvar keratinizing squamous cell carcinoma
A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
obsolete organic anxiety disorder
Kimura disease
Kimura's disease
superficial urinary bladder cancer
A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.
Superficial urinary bladder carcinoma
pituitary hypoplasia
adrenal medulla carcinoma
An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
female urethral cancer
An urethral cancer that derives_from the female urethra.
squamous cell papilloma of skin
Parakeratotic skin papilloma
lymphohistiocytoid mesothelioma
malignant pleural mesothelioma
A pleural cancer that has_material_basis_in mesothelium cells.
malignant mesothelioma of pleura
obsolete localized resectable adult primary hepatoma
obsolete localized resectable adult primary liver cancer
localized Resectable adult Liver carcinoma
pulmonary vein leiomyosarcoma
A leiomyosarcoma that is located_in the pulmonary vein.
leiomyosarcoma of the pulmonary Vein
pulmonary artery leiomyosarcoma
A leiomyosarcoma that is located_in the pulmonary artery.
leiomyosarcoma of the pulmonary artery
obsolete metastasis to the urethra
metastatic neoplasm to the urethra
secondary malignant neoplasm of urethra (disorder)
superior vena cava leiomyosarcoma
A leiomyosarcoma that is located_in the superior vena cava.
leiomyosarcoma of the Superior Vena Cava
obsolete superior vena cava malignant neoplasm
malignant tumor of Superior Vena Cava
cerebral primitive neuroectodermal tumor
PNET of Cerebrum
Nijmegen breakage syndrome
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
Berlin breakage syndrome
Microcephaly, normal intelligence and immunodeficiency
NBS
Seemanova syndrome II
Seemanova syndrome type 2
ataxia-telangiectasia variant
immunodeficiency-microcephaly-chromosomal instability syndrome
microcephaly-immunodeficiency-lymphoreticuloma syndrome
colonic L-cell glucagon-like peptide producing tumor
L-cell glucagon-like peptide producing tumor
obsolete metastatic carcinoma to the uterine cervix
secondary carcinoma to the Cervix Uteri
NCI retired concept, vulvar keratoacanthoma-like carcinoma.
vulvar keratoacanthoma
A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior.
vulvar keratoacanthoma-like carcinoma
vulvar non-keratinizing squamous cell carcinoma
A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present.
obsolete vulvar squamous cell carcinoma with tumor giant cells
ovarian endometrioid cystadenofibroma
An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces.
obsolete metaplastic meningioma
Metaplastic meningioma
obsolete placental infarction
Placental infarct
Placental infarct (disorder)
Placental infarction
obsolete ovarian mucinous cystic tumor with mural nodules
cutaneous anthrax
An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center.
pineal region germinoma
childhood brain germinoma
A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area.
germinoma of the pediatric brain
dermatographia
A physical urticaria induced by stroking of the skin.
dermatographic urticaria
dermographism
childhood germ cell brain tumor
A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
childhood germ cell brain tumour
germ cell neoplasm of the paediatric brain
germ cell neoplasm of the pediatric brain
polyvesicular vitelline pattern testicular yolk sac tumor
sarcomatoid uterine corpus endometrioid adenocarcinoma
An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements.
uterus perivascular epithelioid cell tumor
A perivascular epithelioid cell tumor that is located_in the uterus.
uterine corpus PEComa
ovarian clear cell cystadenocarcinoma
An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm.
polyp of middle ear
polyp - middle ear
polyp of the middle ear
obsolete Muscle calcification and ossification
chronic metabolic polyneuropathy
monoclonal gammopathy of uncertain significance
A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.
MGUS
Monoclonal gammopathy of undetermined significance
obsolete diffuse intraductal papillomatosis
Diffuse intraductal papillomatosis
epididymis adenomatoid tumor
A male reproductive organ benign neoplasm that is located_in the epididymis.
benign Epididymal epithelial Mesothelioma
adenomatoid neoplasm of the epididymis
obsolete hypogonadotropism
enterobiasis
A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching.
Oxyuris vermicularis infection
Threadworm infection
Enterobius vermicularis infection
Pinworm infection
oxyuriasis
acantholytic variant squamous cell breast carcinoma
A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance.
adenomatoid tumor
adenomatoid tumour
benign localised epithelial Mesothelioma
benign localized epithelial Mesothelioma
spindle cell variant squamous cell breast carcinoma
A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma.
large cell keratinizing variant squamous cell breast carcinoma
A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin.
childhood pleomorphic rhabdomyosarcoma
childhood anaplastic Rhabdomyosarcoma
chronic NK-cell lymphocytosis
A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy.
NK-cell large granular Lymphocyte Lymphocytosis
obsolete Spitz nevus
Epithelioid and spindle-cell nevus
desmoplastic nevus
desmoplastic nevus of skin (disorder)
obsolete balloon cell nevus
Balloon cell nevus
Balloon cell nevus (morphologic abnormality)
obsolete neural nevus
neuronevus (morphologic abnormality)
obsolete deep penetrating nevus
obsolete recurrent nevus
obsolete recurrent malignant pleural mesothelioma
relapsed malignant Pleural Mesothelioma
duodenal somatostatinoma
duodenal delta cell somatostatin producing tumor
large cell carcinoma with rhabdoid phenotype
large cell lung carcinoma with Rhabdoid Phenotype
petrous apex meningioma
meningioma of the Petrous Ridge
cervical keratinizing squamous cell carcinoma
A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.
obsolete metastatic renal cell carcinoma
metastatic renal cell cancer
posterior urethra cancer
A female urethral cancer located_in the posterior urethra.
Posterior urethral malignant tumor
Osgood-Schlatter's disease
A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.
Osgood-Schlatter disease
Osteochondritis of tibial tubercle
Osteochondrosis of proximal tibia
juvenile osteochondrosis of tibial tubercle
active peptic ulcer disease
GI Bleeding
vulvar proximal-type epithelioid sarcoma
central epithelioid sarcoma
brain ependymoma
A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children.
Ependymal tumor of brain
Ependymoma of brain
obsolete AIDS-related Human papillomavirus infectious disease
A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS.
childhood infratentorial ependymoma
pediatric infratentorial ependymoma
childhood supratentorial ependymoma
paediatric Cerebral Ependymoma
paediatric Supratentorial Ependymoblastoma
paediatric supratentorial ependymoma
pediatric Cerebral Ependymoma
pediatric Supratentorial Ependymoblastoma
pediatric supratentorial ependymoma
extrahepatic bile duct papillary adenoma
An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct.
Papillary adenoma of the extrahepatic bile duct
obsolete mixed embryonal carcinoma and endodermal sinus neoplasm of the testis
testicular mixed Embryonal carcinoma and Yolk Sac tumor
small intestinal L-cell glucagon-like peptide producing tumor
obsolete malformation of placenta
Placenta Malformation
Variation of placenta form
breast intraductal papillomatosis
A benign breast neoplasm characterized by the presence of multiple intraductal papillomas.
Intraductal papillomatosis of the breast
breast papillomatosis
Obsolete Concept in NCI, LS.
obsolete localized intraductal papillomatosis
Wolffian adnexal neoplasm
lumbar spinal canal and spinal cord meningioma
meningioma of Lumbar Spinal canal and Spinal Cord
childhood central nervous system mixed germ cell tumor
A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells.
obsolete central nervous system mixed germ cell tumor
mixed germ cell tumor of CNS
inhibited female orgasm
female Orgasmic disorder
peptic ulcer perforation
Peptic ulcer with perforation
Perforated peptic ulcer
acute peptic ulcer with perforation
periductal breast myoepitheliosis
A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts.
breast myoepitheliosis
A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts.
childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered
A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.
childhood infratentorial ependymoblastoma
pediatric infratentorial ependymoblastoma
obsolete metastatic neoplasm to the ciliary body
metastatic tumor to the Ciliary body
acute gonococcal endometritis
An acute endometritis that is caused by gonorrhea.
Gonococcal endometritis
Uterus - acute gonorrhoea
acute gonorrhea of uterus
acute endometritis
An endometritis that is characterized by onset within the past 1 - 3 days.
anal gland adenocarcinoma
An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland.
adenocarcinoma of anal ducts
anal glands adenocarcinoma
adenocarcinoma of anal gland
squamous papillomatosis
subareolar duct papillomatosis
breast cystic hypersecretory carcinoma
A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium.
cystic hypersecretory duct carcinoma of the breast
cystic hypersecretory carcinoma of the breast
breast ductal adenoma
A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component.
pregnancy adenoma
A breast adenoma that occurs during pregnancy.
Lactating adenoma
bladder tuberculosis
An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles.
Tuberculosis of bladder
Tuberculous cystitis
breast apocrine adenoma
A breast adenoma that is characterized by apocine differentiation.
mixed epithelial/mesenchymal metaplastic breast carcinoma
A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components.
osteosarcoma arising in bone Paget's disease
Osteosarcoma Arising in osseous Paget's disease
osteosarcoma arising in bone Paget disease
obsolete recurrent squamous cell carcinoma of the esophagus
recurrent squamous cell carcinoma of esophagus
obsolete recurrent esophagus cancer
relapsed carcinoma of the esophagus
ceruminoma
Ceruminous adenoma
infiltrating bladder urothelial carcinoma sarcomatoid variant
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements
Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements
obsolete Paget's disease and intraductal carcinoma of breast
Paget's disease and intraductal carcinoma of breast
Paget's disease and intraductal carcinoma of breast (morphologic abnormality)
Paget's disease of the breast with Intraductal carcinoma
obsolete HIV leukoencephalopathy
A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration.
Human immunodefiency virus leukoencephalopathy (disorder)
glossopharyngeal motor neuropathy
asymmetric motor neuropathy
vulvar eccrine porocarcinoma
A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands.
eccrine porocarcinoma
Eccrine porocarcinoma of skin
Porocarcinoma
malignant Eccrine Poroma
vulvar clear cell hidradenocarcinoma
A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells.
obsolete adult brain meningioma
obsolete thyrotoxicosis with toxic single thyroid nodule
malignant cystic nephroma
malignant multilocular cystic nephroma
pancreatic intraductal papillary-colloid carcinoma
Intraductal Papillary-mucinous carcinoma of pancreas
pancreatic intraductal papillary-mucinous neoplasm
A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.
Pancreatic Intraductal Neoplasms
obsolete metastatic pancreatic adenocarcinoma
pancreatic foamy gland adenocarcinoma
breast scirrhous carcinoma
A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue.
Infiltrating carcinoma of breast with Fibrotic Stroma
scirrhous carcinoma of breast
visceral heterotaxy 5
A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22.
Complete transposition
Laterality sequence
situs inversus
situs inversus viscerum
obsolete psychogenic depressive psychosis
Depressive type psychosis
Severe major depression with psychotic features (disorder)
psychotic depression
glottis verrucous carcinoma
Glottic verrucous carcinoma
verrucous carcinoma of glottis
subglottis verrucous carcinoma
verrucous carcinoma of Subglottis
verrucous carcinoma of the subglottis
subglottis squamous cell carcinoma
Epidermoid carcinoma of the Subglottis
subglottis carcinoma
Subglottic carcinoma
carcinoma of subglottis
supraglottis verrucous carcinoma
verrucous carcinoma of Supraglottis
verrucous carcinoma of the supraglottis
supraglottis squamous cell carcinoma
Epidermoid carcinoma of the Supraglottis
carcinoma of supraglottis
Supraglottic carcinoma
obsolete mixed endodermal sinus neoplasm and teratoma of the testis
mixed Yolk Sac tumor and teratoma of testis
obsolete ovarian dermoid cyst with melanocytic nevus
obsolete congenital disorder
congenital abnormality
obsolete ovarian dermoid cyst with secondary melanocytic lesion
gestational ovarian choriocarcinoma
A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event.
obsolete recurrent pediatric medulloblastoma
relapsed pediatric Medulloblastoma
asbestos-related lung carcinoma
cervical lymphoepithelioma-like carcinoma
A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct.
lymphoepithelioma-like thymic carcinoma
Lymphoepithelioma-like carcinoma of the Thymus
infiltrating bladder lymphoepithelioma-like carcinoma
obsolete advanced malignant pleural mesothelioma
Advanced malignant Mesothelioma of Pleura
fibrosarcomatous osteosarcoma
Fibroblastic osteosarcoma
Fibrosarcomatous Osteogenic sarcoma
chief cell adenoma
Chief cell adenoma of Parathyroid gland
parathyroid adenoma
A parathyroid gland benign neoplam that is located_in the parathyroid.
adenoma of the Parathyroid gland
adenoma of parathyroid
parathyroid transitional clear cell adenoma
Clear cell adenoma of the Parathyroid
obsolete meningococcal endocarditis
Meningococcal endocarditis (disorder)
mixed cell type adenoma of parathyroid
mixed cell type adenoma of the Parathyroid gland
parathyroid oncocytic adenoma
childhood intracortical osteosarcoma
sarcomatosis of the meninges
Meningeal sarcomatosis
sarcomatosis of meninges
meninges sarcoma
Meningeal sarcoma
sarcoma of meninges
sarcomatosis
A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body.
obsolete bacterial endocarditis
Bacterial endocarditis
Bacterial endocarditis (& [acute] or [subacute])
Bacterial endocarditis (disorder)
Bacterial endocarditis (disorder) [Ambiguous]
Endocarditis, infective NOS
acute and subacute bacterial endocarditis
acute and subacute bacterial endocarditis (disorder)
acute and subacute bacterial endocarditis NOS (disorder)
bacterial endocarditis
obsolete meningococcal carditis
Meningococcal carditis (disorder)
Meningococcal carditis NOS (disorder)
Meningococcal carditis unspecified (disorder)
Meningococcal carditis, unspecified
adult embryonal tumor with multilayered rosettes, C19MC-altered
An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.
adult ependymoblastoma
Cowper gland carcinoma
A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland.
macular holes
Macular hole
suprasellar meningioma
Gasserian ganglion meningioma
meningioma of Gasserian Ganglion
obsolete recurrent cancer of small Intestine
relapsed carcinoma of the small Intestine
obsolete Paget's disease and invasive ductal carcinoma of breast
Paget's disease of breast with Infiltrating ductal carcinoma
malignant granular cell skin tumor
malignant granular cell skin neoplasm
malignant granular cell skin tumour
malignant granular cell tumor of skin
malignant granular cell tumour of skin
obsolete meningococcal pericarditis
Meningococcal pericarditis (disorder)
obsolete non-resectable small intestine carcinoma
Unresectable Small Intestine carcinoma
cholangiolocellular carcinoma
acantholytic squamous cell skin carcinoma
acantholytic squamous cell carcinoma of skin
multiple spinal canal and spinal cord meningioma
Multiple meningiomas of the Spinal canal and Spinal Cord
pulmonary type ovarian small cell carcinoma
An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type.
small-cell carcinoma of the ovary of hypercalcemic type
An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.
hypercalcemic type ovarian small cell carcinoma
obsolete rare cancer-associated syndrome
adult infiltrating astrocytic neoplasm
adult Infiltrating Astrocytic tumor
adult Infiltrating astrocytoma
obsolete anaplastic astrocytoma of adult
Undifferentiated astrocytoma of adult
endometrial mixed adenocarcinoma
An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component.
non-gestational ovarian choriocarcinoma
An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event.
obsolete recurrent penis cancer
relapsed carcinoma of penis
obsolete regressing non-cutaneous melanoma
testicular fibroma
testicular thecoma
obsolete bone metastatic Ewing's sarcoma
sphenoid sinus inverted papilloma
Inverted papilloma of the Sphenoid sinus
sphenoid sinus Schneiderian papilloma
Schneiderian papilloma of the Sphenoid sinus
retinal cell cancer
A malignant neoplasm that derives_from the retina.
obsolete mixed choriocarcinoma and teratoma of the testis
mixed Choriocarcinoma and teratoma of testis
obsolete dissecting aortic aneurysm
maxillary sinus adenocarcinoma
adenocarcinoma of the maxillary sinus
adenocarcinoma of maxillary sinus
pancreatic non-invasive intraductal papillary-mucinous carcinoma
leptomeninges sarcoma
Leptomeningeal sarcoma
sarcoma of Leptomeninges
abdominal aortic aneurysm
An aortic aneurysm that is located_in the abdominal aorta.
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
bladder urachal adenocarcinoma
lung hilum cancer
malignant tumor of lung Hilum
primary malignant neoplasm of hilus of lung
pancreatic ACTH hormone producing tumor
pancreatic ACTH hormone producing tumour
pancreatic Adrenocorticotropic Hormone Producing tumor
pancreatic Adrenocorticotropic Hormone Producing tumour
non-functioning pancreatic endocrine tumor
obsolete AIDS-related oropharyngeal candidiasis
An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients.
obsolete human papilloma virus related endocervical adenocarcinoma
A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers.
HPV-Related Endocervical adenocarcinoma
obsolete Cytomegalovirus esophagitis
A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis.
CMV esophagitis
rectum signet ring adenocarcinoma
Signet Ring cell adenocarcinoma of rectum
perianal skin Paget's disease
perianal skin Paget disease
obsolete metastatic extraskeletal chondrosarcoma
metastatic extraosseous chondrosarcoma
obsolete recurrent adult soft tissue sarcoma
An adult sarcoma of soft tissue that derives_form the soft tissues of the body.
relapsed adult sarcoma of the soft tissue
tuberculum sellae meningioma
meningioma of the Tuberculum Sellae
obsolete metastatic malignant hemangiopericytoma
mixed ductal-endocrine carcinoma
colloid carcinoma of the pancreas
osteoclast-like giant cell neoplasm of the pancreas
Osteoclast-like Giant cell neoplasm of pancreas
obsolete metastasis to the retina
metastatic tumor to the Retina
obsolete generalized convulsive epilepsy
Generalized convulsive epilepsy, with intractable epilepsy
epilepsy with generalized tonic-clonic seizures
An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
Epileptic seizures, tonic-clonic
Grand Mal epilepsy
tonic-clonic epilepsy
obsolete chronic allograft arteriopathy
acinar cell cystadenocarcinoma
pancreatic acinar cell cystadenocarcinoma
obsolete metastasis to eye
metastatic tumor to the eye
secondary malignant neoplasm of eye (disorder)
childhood malignant hemangiopericytoma
malignant pediatric hemangiopericytoma
childhood malignant schwannoma
pediatric MPNST
signet ring cell intrahepatic cholangiocarcinoma
pancreatic colloid cystadenoma
mucinous Cystadenoma of pancreas
retinal telangiectasia
obsolete human papilloma virus related penile squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis.
Condylomatous carcinoma of penis
HPV-Related Penile squamous cell carcinoma
penis warty carcinoma
warty carcinoma of penis
retina lymphoma
Lymphoma of retina
Retinal Lymphoma
childhood extraocular retinoblastoma
An extraocular retinoblastoma that effects children.
pediatric extraocular retinoblastoma
intraocular lymphoma
primary intraocular lymphoma
adult brain ependymoma
A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells.
extrahepatic biliary papillomatosis
A biliary papillomatosis located_in an extrahepatic bile duct.
obsolete recurrent cancer of testis
relapsed testicular carcinoma
obsolete Chondroid hamartoma of lung
pulmonary Chondroid hamartoma
neonatal leukemia
A childhood leukemia that occurs during the neonatal period.
childhood multilocular cystic kidney neoplasm
A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma.
childhood renal Wilms cancer
pediatric Multilocular cystic renal tumor
benign Multilocular cystic renal tumor
Coats disease
Coats' disease
Coats' syndrome
Exudative retinopathy
obsolete mixed choriocarcinoma and embryonal carcinoma of the testis
mixed Choriocarcinoma and Embryonal carcinoma of testis
breast osteosarcoma
A breast sarcoma that arises from bone.
Osteogenic sarcoma of breast
adult spinal cord ependymoma
obsolete recurrent uterine sarcoma
A uterine Corpus sarcoma that has recurred after it has been treated.
relapsed sarcoma of Uterus
obsolete transitional cell carcinoma of the ureter with glandular differentiation
ureteral transitional cell carcinoma with glandular differentiation
obsolete plasmacytoma-like PTLD
obsolete nonmetastatic extraskeletal osteosarcoma
Non-metastatic extraskeletal Osteogenic sarcoma
adult spinal cord glioblastoma multiforme
Glioblastoma multiforme of spinal cord
adult Spinal Cord Glioblastoma
choroid necrotic melanoma
necrotic Choroid melanoma
necrotic uveal melanoma
An uveal melanoma characterized by the presence of tumor cell necrosis.
obsolete anaplastic giant cell thyroid carcinoma
Undifferentiated Giant cell carcinoma of the Thyroid gland
obsolete AIDS-related Cytomegalovirus enterocolitis
An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients.
AIDS-related enterocolitis
obsolete Enterovirus gastroenteritis
An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea.
obsolete Cytomegalovirus colitis
A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss.
CMV colitis
obsolete recurrent malignant thymoma
Thymoma malignant recurrent
mixed astrocytoma-ependymoma-oligodendroglioma
petroclival meningioma
sphenoorbital meningioma
renal infectious disease
sphenocavernous meningioma
spinal multifocal clear cell meningioma
Multifocal Clear cell meningioma of Spine
chronic toxic polyneuropathy
adult papillary meningioma
adult extraosseous osteosarcoma
An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material.
end stage renal disease
A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.
end stage renal failure
end-stage kidney disease
obsolete cervical papillary squamous cell carcinoma
A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix.
obsolete human papilloma virus related cervical squamous cell carcinoma
A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix.
HPV-Related cervical carcinoma
HPV-Related cervical squamous cell carcinoma
human papilloma virus related cervical carcinoma
obsolete mixed acinar-endocrine carcinoma
mixed acinar-endocrine carcinoma
mixed acinar-endocrine carcinoma (morphologic abnormality)
infiltrating nipple syringomatous adenoma
A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple.
pancreatic non-functioning delta cell tumor
female breast carcinoma
A breast carcinoma that is manifested in the female breast.
Mammary carcinoma of female breast
carcinoma of female breast
obsolete vascular hemorrhagic disorder
interdigitating dendritic cell sarcoma
A histiocytic and dendritic cell cancer that effect dendritic cells.
Interdigitating cell sarcoma
obsolete recurrent uvea melanoma
recurrent melanoma of Uvea
pancreatic intraductal papillary-mucinous adenoma
obsolete recurrent ovarian germ cell neoplasm
relapsed germ cell tumor of Ovary
adult central nervous system germinoma
germinoma of the adult central nervous system
maxillary sinus inverted papilloma
Inverted papilloma of the maxillary sinus
adult xanthogranuloma
uterine corpus atypical polypoid adenomyoma
An atypical polypoid adenomyoma that is located_in the uterine corpus.
luteoma
An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.
leuteoma of pregnancy
luteoma of pregnancy
obsolete hypotony of eye associated with another ocular disorder
obsolete testicular spermatocytic seminoma with sarcoma
testicular spermatocytic seminoma
obsolete breast adenohibernoma
mite infestation
A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.
adult myxoid chondrosarcoma Retired NCI concept.
adult extraskeletal myxoid chondrosarcoma
An extraskeletal myxoid chondrosarcoma occurring in adults.
adult extraosseous chondrosarcoma
adult myxoid chondrosarcoma
intracranial chondrosarcoma
mixed astrocytoma-ependymoma
obsolete disorganized schizophrenia in remission
Disorganized schizophrenia in remission (disorder)
Disorganized type schizophrenia, in remission
maxillary sinus squamous cell carcinoma
A squamous cell carcinoma that is located_in the maxillary sinus.
Epidermoid carcinoma of the Maxillofacial sinus
mixed oligodendroglioma-astrocytoma
WHO grade II mixed glioma
cervical spinal canal and spinal cord meningioma
meningioma of the cervical Spinal canal and Spinal Cord
obsolete nonmetastatic extra-osseous ewing's sarcoma
obsolete disorganized schizophrenia
obsolete central nervous system benign soft tissue neoplasm
benign soft tissue tumor of CNS
mediastinal psammomatous neurilemmoma
A mediastinal neurilemmoma characterized by the presence of psammoma bodies.
benign Psammomatous Schwannoma of mediastinum
benign mediastinal psammomatous neurilemmoma
Duplicate disease (NCI).
obsolete benign mediastinal neurilemmoma
benign Schwannoma of mediastinum
epithelial malignant thymoma
Squamoid Thymoma
Thymoma, epithelial
Well differentiated thymic carcinoma
malignant type A thymoma
Thymoma, medullary, malignant
testis refractory cancer
Refractory testicular carcinoma
obsolete schizophrenia in remission
Schizophrenia in remission (disorder)
Unspecified schizophrenia, in remission
glandular-alveolar pattern testicular yolk sac tumor
obsolete old burn scar-related squamous cell carcinoma of skin
Old Burn Scar-Related squamous cell carcinoma of the skin
obsolete childhood precursor T-lymphoblastic lymphoma/leukemia
refractory T lymphoblastic leukemia/lymphoma
precursor T-lymphoblastic lymphoma/leukemia refractory
obsolete dyschondroplasia
Dyschondroplasia
Dyschondroplasia (disorder)
Dyschondroplasia NOS (disorder)
obsolete residual schizophrenia in remission
Residual schizophrenia in remission (disorder)
Residual schizophrenia, in remission
Barrett's adenocarcinoma
Barrett adenocarcinoma
adenocarcinoma Arising in Barrett's Mucosa
adult central nervous system mixed germ cell tumor
A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells.
obsolete recurrent cancer of colon
recurrent colon carcinoma
stroma-dominant and stroma-poor composite ganglioneuroblastoma
obsolete residual type schizophrenia
Residual schizophrenia
Residual schizophrenia (disorder)
Residual schizophrenia, unspecified state
Residual type schizophrenic disorder
Restzustand, schizophrenic
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
nipple duct carcinoma
A nipple carcinoma that is located_in the nipple duct.
obsolete EBV-related posttransplantation lymphoproliferative disease
An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4.
EBV Related Clonal PTLD
EBV-related PTLD
Epstein-Barr virus related posttransplantation lymphoproliferative disorder
sarcomatoid penile squamous cell carcinoma
sarcomatous carcinoma of the penis
duodenal gastrinoma
Gastrinoma of duodenum
duodenal G-cell gastrin producing tumor
malignant duodenal gastrinoma
malignant spiradenoma
malignant eccrine spiradenoma
cervical non-keratinizing squamous cell carcinoma
A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present.
tamoxifen-related endometrial lesion
An endometrial disease that is caused by tamoxifen exposure.
obsolete type 3 ALPS
lipid-cell variant infiltrating bladder urothelial carcinoma
plasmacytoid variant infiltrating bladder urothelial carcinoma
nested variant infiltrating bladder urothelial carcinoma
microcystic variant infiltrating bladder urothelial carcinoma
lymphoma-like variant infiltrating bladder urothelial carcinoma
obsolete helicobacter pylori-related gastric adenocarcinoma
breast malignant eccrine spiradenoma
A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population.
malignant Eccrine Spiradenoma of the breast
sclerosing breast papilloma
A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct.
cerebral falx meningioma
Falcine meningioma
varicose veins
A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
Varix
Venous ectasia
Venous varices
varices
central nervous system osteosarcoma
familial glomangioma
frontal convexity meningioma
alveoli adenoma
Alveolar adenoma
adenoma of alveoli
adenoma of the alveoli
obsolete ovarian dermoid cyst with prolactin secreting adenoma
obsolete ovarian dermoid cyst with secondary pituitary-type tumor
skin meningioma
primary meningioma of the skin
Pancoast tumor
Pancoast tumour
Pancoast's syndrome
Pancoast's tumour
Superior pulmonary sulcus syndrome
malignant Superior Sulcus tumor
malignant Superior Sulcus tumour
pulmonary sulcus tumor
pulmonary sulcus tumour
penis mixed squamous cell carcinoma
obsolete metastatic fibrosarcoma
benign pericardial teratoma
Mature teratoma of Pericardium
penis papillary carcinoma
A papillary carcinoma that is located_in the penis.
squamous carcinoma of penis, Papillary type
obsolete ovarian dermoid cyst with corticotropin secreting adenoma
obsolete anaplastic ganglioglioma
anaplastic ganglioglioma
anaplastic ganglioglioma (morphologic abnormality)
ganglioglioma, anaplastic (morphologic abnormality)
obsolete renal pelvis and ureter regional transitional cell cancer
regional Urothelial carcinoma of the renal Pelvis and Ureter
obsolete renal pelvis and ureter recurrent transitional cell cancer
recurrent Urothelial carcinoma of the renal Pelvis and Ureter
glomangiomyoma
obsolete medullary carcinoma with amyloid stroma
Parafollicular cell carcinoma with Amyloid Stroma
liver fibrosarcoma
A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver.
myxoid liposarcoma of the ovary
A myxoid liposarcoma that is located_in the ovary.
Myxoid Liposarcoma of Ovary
obsolete male genital tuberculosis
Tuberculosis of male genital organs
gastric signet ring cell adenocarcinoma
Signet Ring cell adenocarcinoma of the stomach
obsolete intestinal adenocarcinoma of the stomach
gastric intestinal type adenocarcinoma
sporadic breast cancer
A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.
periocular meningioma
pineal region meningioma
Pineal meningioma
childhood ovarian embryonal carcinoma
An ovarian embryonal carcinoma that occurs in childhood.
pediatric Embryonal carcinoma of Ovary
childhood embryonal carcinoma of the ovary
testis polyembryoma
Polyembryoma of testis
chest wall parachordoma
A parachordoma arising from the chest wall.
Parachordoma of the Chest Wall
obsolete recurrent cancer of prostate
recurrent prostate carcinoma
bladder tubulo-cystic clear cell adenocarcinoma
bladder papillary clear cell adenocarcinoma
obsolete recurrent urethral cancer
A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body.
relapsed urethra carcinoma
olfactory groove meningioma
meningioma of the Olfactory Groove
pituitary stalk meningioma
meningioma of the Pituitary Stalk
frontal sinus inverted papilloma
Inverted papilloma of the Frontal sinus
intraductal breast myoepitheliosis
A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts.
carotid artery occlusion
Occlusion and stenosis of carotid artery
sarcomatous intrahepatic cholangiocarcinoma
childhood central nervous system germinoma
obsolete monomorphic T-cell PTLD
obsolete ovarian mucinous cystic tumor associated with pseudomyxoma peritonei
myxomatous pattern testicular yolk sac tumor
cellular congenital mesoblastic nephroma
classic congenital mesoblastic nephroma
obsolete cervical squamotransitional carcinoma
A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation.
obsolete ovarian dermoid cyst with sebaceous carcinoma
obsolete advanced adult primary hepatoma
Advanced adult primary Hepatocellular carcinoma
cocaine abuse
A substance abuse that involves the recurring use of cocaine despite negative consequences.
maxillary sinus Schneiderian papilloma
Schneiderian papilloma of the maxillary sinus
obsolete cervical condylomatous squamous cell carcinoma
A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix.
cervical Warty squamous cell carcinoma
bladder mixed adenocarcinoma
bladder hepatoid adenocarcinoma
obsolete HIV-associated lipodystrophy syndrome
A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs.
fetal adenoma
Microfollicular adenoma
vaginal tubulovillous adenoma
A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma.
vaginal tubular adenoma
extrahepatic bile duct cystadenoma
A bile duct cystadenoma located_in an extrahepatic bile duct.
Cystadenoma of the extrahepatic bile duct
cellular phase chronic idiopathic myelofibrosis
obsolete S-T syndrome
fibroepithelial polyp of urethra
urethral Fibroepithelial polyp
nephrogenic adenoma of the urethra
Nephrogenic adenoma of urethra
periampullary adenocarcinoma
obsolete recurrent childhood cerebral astrocytoma
neuronitis
A central nervous system disease that is characterized by neuron inflammation.
mature gastric teratoma
A mature teratoma that has_material_basis_in gastric tissue.
Mature teratoma of stomach
anal canal Paget's disease
Paget's disease of the anal canal
anal canal Paget disease
Paget's disease of anal canal
obsolete adenocarcinoma in villous adenoma
adenocarcinoma in villous adenoma (morphologic abnormality)
villous adenoma or adenocarcinoma NOS (morphologic abnormality)
villous adenomas and adenocarcinomas (morphologic abnormality)
obsolete metastatic extra-osseous Ewing's sarcoma
metastatic extraskeletal Ewing's sarcoma
pseudovascular skin squamous cell carcinoma
septic arthritis
An arthritis that involves infection by a pathogen located_in joint.
infectious arthritis
breast columnar cell mucinous carcinoma
A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid.
Columnar Cell Change of the Breast
blunt duct adenosis of breast
obsolete sclerosing mucoepidermoid thyroid carcinoma with eosinophilia
epiglottis cancer
epiglottic cancer
malignant tumor of Epiglottis
gallbladder lymphoma
Lymphoma of the gallbladder
obsolete transitional cell carcinoma of the ureter with mixed differentiation
ureteral transitional cell carcinoma with mixed differentiation
thymus clear cell carcinoma
Clear cell carcinoma of the Thymus
thymus sarcomatoid carcinoma
Thymic Carcinosarcoma
adrenal gland ganglioneuroblastoma
pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
CLL/SLL with Unmutated IGVH
obsolete metastatic neoplasm to the gallbladder
metastatic tumor to the gallbladder
secondary malignant neoplasm of gallbladder (disorder)
obsolete anaplastic secondary supratentorial astrocytic neoplasm
Undifferentiated secondary Supratentorial astrocytoma
obsolete recurrent childhood malignant germ cell tumor
recurrent childhood malignant germ cell neoplasm
malignant childhood germ cell neoplasm
malignant pediatric germ cell tumor
pancreatic invasive intraductal papillary-mucinous carcinoma
appendiceal L-cell glucagon-like peptide producing tumor
appendiceal L-cell glucagon-like peptide producing tumour
malignant appendiceal L-cell glucagon-like peptide producing tumor
malignant appendiceal L-cell glucagon-like peptide producing tumour
malignant appendiceal glucagonoma
obsolete distal 1/3 of common bile duct adenocarcinoma
adenocarcinoma of the Distal 1/3 of the Common bile duct
fibroosseous pseudotumor of digits
Fibroosseous Digital Pseudotumor
complement component 5 deficiency
A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.
C5 deficiency
obsolete adult desmoplastic small round cell tumor
A desmoplastic small round-cell tumor that primarily is located_in the abdomen.
oncocytic carcinoma of the thyroid
A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli.
Oncocytic (Hurthle-cell) carcinoma
Thyroid Gland Oncocytic Carcinoma
thyroid gland Hurthle cell carcinoma
thyroid Hurthle cell adenoma
benign oncocytoma of the thyroid
obsolete gallbladder cancer unresectable
gallbladder carcinoma Unresectable
gallbladder melanoma
malignant melanoma of gallbladder
interstitial myocarditis
fibroepithelial polyp of the anus
Fibroepithelial polyp of anus
endocervical type cervical adenomyoma
A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle.
endometrial type cervical adenomyoma
A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle.
cervical atypical polypoid adenomyoma
A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.
fallopian tube gestational choriocarcinoma
A gestational choriocarcinoma that is located_in the fallopian tube.
Gestational Choriocarcinoma of the fallopian tube
gestational uterine corpus choriocarcinoma
A gestational choriocarcinoma that is located_in the uterine corpus.
uterine corpus choriocarcinoma
A choriocarcinoma that is located_in the uterine corpus.
mediastinitis
A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities.
obsolete recurrent vulva cancer
recurrent Vulvar carcinoma
papillary pattern testicular yolk sac tumor
obsolete recurrent pediatric hepatoma
recurrent pediatric Hepatocellular carcinoma
hepatoid pattern testicular yolk sac tumor
obsolete ovarian dermoid cyst with melanoma
obsolete bursa syphilis
Syphilis of synovium, tendon or bursa (disorder)
Syphilis of synovium, tendon or bursa NOS (disorder)
Syphilis of synovium, tendon, and bursa
myotonic cataract
A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy.
sacral spinal canal and spinal cord meningioma
meningioma of the Sacral Spinal canal and Spinal Cord
obsolete alloimmunization
hilar lung carcinoma
lung superior sulcus carcinoma
Superior Sulcus carcinoma of the lung
superior sulcus carcinoma of lung
fallopian tube cystadenofibroma
A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces.
parapharyngeal meningioma
Primary Parapharyngeal Meningioma
obsolete recurrent epithelioid sarcoma
relapsed epithelioid sarcoma
obsolete recurrent extraosseous Ewing's sarcoma
recurrent extraskeletal Ewing's sarcoma
upper clivus meningioma
meningioma of the Upper Clivus
obsolete adenocarcinoma in tubular adenoma
adenocarcinoma in tubular adenoma
penile urethral cancer
A male urethral cancer that derives_from the penile urethra.
central breast papilloma
A breast duct papilloma that is located_in a major duct.
large duct breast papilloma
solitary intraductal breast papilloma
microscopic breast papilloma
atypical breast papilloma
A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant.
obsolete metastatic extraskeletal osteosarcoma
metastatic extraskeletal Osteogenic sarcoma
obsolete metastatic small intestinal adenocarcinoma
intrahepatic biliary papillomatosis
A biliary papillomatosis located_in an intrahepatic bile duct.
inflammatory liposarcoma
obsolete malignant hemangiopericytoma recurrent
relapsed malignant hemangiopericytoma
obsolete metastatic endometrial carcinoma
stage IV cancer of Uterus
lower clivus meningioma
meningioma of the lower Clivus
meningeal melanomatosis
A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents).
Leptomeningeal melanomatosis
obsolete bone recurrent PNET
recurrent Neuroepithelioma of bone
obsolete breast myoid hamartoma
adult pleomorphic rhabdomyosarcoma
chronic rhinitis
A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding.
Rhinitis - chronic
vulva fibroepithelial polyp
Vulval Fibroepithelial polyp
olfactory neural tumor
obsolete transitional cell carcinoma of the ureter with squamous differentiation
ureteral transitional cell carcinoma with squamous differentiation
bulbomembranous urethral cancer
A male urethral cancer that derives_from the bulbomembranous part of the urethra.
obsolete adenocarcinoma in adenomatous polyposis coli
adenocarcinoma in adenomatous polyposis coli (morphologic abnormality)
ureter tuberculosis
An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures.
tuberculosis of ureter
anterior urethra cancer
A female urethral cancer located_in the anterior urethra.
Anterior urethral malignant tumor
synovial angioma
hemangioma of Synovium
intratubular embryonal carcinoma
An embryonal testis carcinoma that is located within a tubule.
obsolete Hodgkin-like posttransplantation lymphoproliferative disease
Hodgkin's-like PTLD
obsolete recurrent malignant peripheral nerve sheath neoplasm
relapsed MPNST
adult epithelioid sarcoma
obsolete nonmetastatic epithelioid sarcoma
Non-metastatic epithelioid cell sarcoma
obsolete metastatic epithelioid sarcoma
metastatic epithelioid cell sarcoma
obsolete Multiple Chondromatous hamartoma of lung
Multiple Chondromatous hamartoma of the lung
clear cell squamous cell skin carcinoma
Clear cell squamous cell carcinoma of skin
obsolete breast adenolipoma
obsolete crystal arthropathy
Crystal arthropathy NOS, of multiple sites (disorder)
Crystal arthropathy NOS, of the ankle and foot (disorder)
Crystal arthropathy NOS, of the forearm (disorder)
Crystal arthropathy NOS, of the hand (disorder)
Crystal arthropathy NOS, of the lower leg (disorder)
Crystal arthropathy NOS, of the pelvic region and thigh
Crystal arthropathy NOS, of the pelvic region and thigh (disorder)
Crystal arthropathy NOS, of the shoulder region (disorder)
Crystal arthropathy NOS, of the upper arm (disorder)
Crystal arthropathy of ankle and/or foot
Crystal arthropathy of ankle and/or foot (disorder)
Crystal arthropathy of forearm
Crystal arthropathy of forearm (disorder)
Crystal arthropathy of hand
Crystal arthropathy of hand (disorder)
Crystal arthropathy of lower leg
Crystal arthropathy of lower leg (disorder)
Crystal arthropathy of multiple sites
Crystal arthropathy of multiple sites (disorder)
Crystal arthropathy of shoulder region
Crystal arthropathy of shoulder region (disorder)
Crystal arthropathy of upper arm
Crystal arthropathy of upper arm (disorder)
Unspecified crystal arthropathy involving ankle and foot
Unspecified crystal arthropathy involving forearm
Unspecified crystal arthropathy involving hand
Unspecified crystal arthropathy involving lower leg
Unspecified crystal arthropathy involving multiple sites
Unspecified crystal arthropathy involving pelvic region and thigh
Unspecified crystal arthropathy involving shoulder region
Unspecified crystal arthropathy involving upper arm
atypical follicular adenoma
mixed endometrial stromal and smooth muscle tumor
A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells.
Stromomyoma
congenital granular cell tumor
lymph node palisaded myofibroblastoma
A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers.
Palisaded Myofibroblastoma of the Lymph Node
nonossifying fibromyxoid tumor
Nonossifying Fibromyxoma
early invasive cervical adenocarcinoma
A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion.
obsolete metastatic carcinoma from the small bowel
metastatic carcinoma from the small Intestine
sclerosing adenosis of breast
A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue.
Sclerosing breast Adenosis
obsolete resectable small intestine carcinoma
Resectable carcinoma of the Small Bowel
perineural angioma
obsolete testicular intratubular germ cell neoplasia with extratubular extension
microglandular adenosis of breast
childhood choriocarcinoma of the ovary
A choriocarcinoma of the ovary that is present during childhood.
childhood ovarian choriocarcinoma
pediatric Choriocarcinoma of Ovary
appendicitis
An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
acute appendicitis
acute appendicitis with generalized peritonitis
acute appendicitis with peritoneal abscess
villoglandular variant cervical mucinous adenocarcinoma
A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores.
intestinal variant cervical mucinous adenocarcinoma
A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation.
endocervical type cervical mucinous adenocarcinoma
A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.
Cervical Mucinous Adenocarcinoma, Endocervical-Type
Mucinous adenocarcinoma, endocervical type
obsolete type 1b ALPS
obsolete type 2 ALPS
obsolete localized PNET of bone
localized Neuroepithelioma of bone
obsolete metastatic peripheral neuroepithelioma of bone
aortic malignant tumor
A vascular cancer that is located_in the aorta.
aortic malignant neoplasm
epithelioid malignant peripheral nerve sheath tumor
epithelioid MPNST
malignant epithelioid neoplasm of the peripheral nerve Sheath
complement component 3 deficiency
A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.
C3 deficiency
pseudoglandular variant testicular seminoma
glassy cell variant cervical adenosquamous carcinoma
A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm.
enteric pattern testicular yolk sac tumor
obsolete inferior vena cava malignant neoplasm
malignant tumor of Inferior Vena Cava
obsolete esophageal adenocarcinoma recurrent
relapsed adenocarcinoma of the esophagus
chordoid meningioma
A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma.
meningioma, chordoid
adult malignant schwannoma
adult MPNST
obsolete mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis
mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis
obsolete ectopic calcitonin production
Ectopic Calcitonin Secretion
Ectopic calcitonin production (finding)
obsolete recurrent endometrial cancer
relapsed carcinoma of Endometrium
obsolete ectopic chorionic gonadotropin secretion disease
obsolete metastatic non-cutaneous melanoma
obsolete mixed embryonal carcinoma and seminoma of the testis
mixed Embryonal carcinoma and Seminoma of testis
lumbar plexus neoplasm
tumor of Lumbar Plexus
obsolete mixed choriocarcinoma and seminoma of the testis
mixed Choriocarcinoma and Seminoma of testis
reticular pattern testicular yolk sac tumor
adult type testicular granulosa cell tumor
trombiculiasis
A mite infestation that involves rash caused by Leptotrombidium deliense.
osteochondritis dissecans
An ischemic bone disease that results_in necrosis located_in epiphysis.
OCD
cork-handlers' disease
An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.
Suberosis
cork-handlers' disease or lung
cork-handlers' lung
malignant cornea melanoma
malignant Corneal melanoma
malignant melanoma of cornea
obsolete malignant hemangiopericytoma nonmetastatic
Non-metastatic malignant hemangiopericytoma
Meckel's diverticulitis
A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth.
Meckel diverticulitis
microinvasive cervical squamous cell carcinoma
A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter.
childhood kidney angiomyolipoma
pediatric renal Angiomyolipoma
kidney angiomyolipoma
Angiomyolipoma of kidney
renal Angiomyolipoma
obsolete recurrent extraskeletal osteosarcoma
relapsed extraskeletal Osteosarcoma
carcinoma arising in nasal papillomatosis
congenital fibrosarcoma
Infantile fibrosarcoma
colloid adenoma
Macrofollicular adenoma
malignant glandular tumor of peripheral nerve sheath
glandular MPNST
follicular infundibulum tumor
follicular infundibulum tumour
neoplasm of the Follicular Infundibulum
tumor of follicular infundibulum
tumour of follicular infundibulum
retinal melanoma
malignant Retinal melanoma
breast apocrine carcinoma in situ
A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast.
Apocrine carcinoma in situ of the breast
obsolete testicular seminoma with syncytiotrophoblastic cells
physiological polycythemia
thyroid malformation
obsolete Drug dependence complicating pregnancy, childbirth, or the puerperium
Drug dependence, antepartum
Pregnancy and drug dependence
Pregnancy and drug dependence (disorder)
drug dependence of mother with delivery
postpartum drug dependence
intestinal obstruction
afferent loop syndrome
A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction.
Afferent limb syndrome
obsolete chronic depressive disorder
chronic depression (disorder)
chronic depressive personality disorder
ileus
Ileus of intestine
paralytic ileus
brachial plexus lesion
A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus.
Brachial plexus lesions
obsolete nerve root and plexus disorder
intestinal volvulus
An intestinal obstruction characterized by abnormal rotation of the intestines.
Twist of intestine, bowel, or colon
Volvulus
familial intestinal malrotation
volvulus of midgut
intussusception
Intussusception of intestine
Invagination of intestine or colon
intestinal impaction
obsolete vitamin B deficiency
cyclothymic disorder
A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
Affective personality disorder
Cycloid personality
Cyclothymia
Cyclothymic personality
obsolete vitamin deficiency
obsolete malnutrition
obsolete folic acid deficiency
Folic acid deficiency
Folic acid deficiency (disorder)
deficiency of folic acid (disorder)
folate deficiency
riboflavin deficiency
A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.
ariboflavinosis
vitamin B2 deficiency
pyridoxine deficiency anemia
A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid).
vitamin B6 deficiency syndrome
choline deficiency disease
A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition.
choline deficiency
pellagra
A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects.
Niacin deficiency
Niacin-tryptophan deficiency
obsolete Thiamine and niacin deficiency state
obsolete vitamin B 12 deficiency
Cobalamin deficiency (disorder)
deficiency of vitamin B>12< (disorder)
vitamin B 12 deficiency
obsolete arthropathy associated with hematological disorder
Aicardi syndrome
A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
flat retinoschisis
obsolete Retinoschisis and retinal cysts
Whipple disease
Whipple's disease
intestinal lipodystrophy
obsolete malabsorption syndrome
actinomycosis
A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.
Actinomycotic madura foot
Actinomycotic mycetema
Actinomycotic mycetoma of foot
Madura foot due to Actinomadura
actinomycotic infection
actinomycetoma
rheumatic myocarditis
Rheumatic degeneration of myocardium
Rheumatic fever with myocarditis
Rheumatoid myocarditis
active rheumatic fever with myocarditis
acute rheumatic carditis
acute rheumatic myocarditis
transient retinal arterial occlusion
Retinal transient arterial occlusion
Transient arterial retinal occlusion
maple bark strippers' lung
An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale.
Maple bark-strippers' lung
Maple-bark strippers' lung
alveolitis due to cryptostroma corticale
maple bark disease
maple bark stripper's disease
maple bark stripper's lung
mucormycosis
An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds.
disseminated mucormycosis
zygomycosis
obsolete secondary retinal cyst
secondary retinal cyst (disorder)
secondary retinal cysts
secondary retinal cysts (disorder)
polyhydramnios
A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
obsolete disorder of amniotic fluid and membranes
rheumatoid arthritis interstitial lung disease
An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications.
Rheumatoid lung
obsolete primary hypotonic uterine dysfunction
antepartum primary uterine inertia
primary uterine inertia - delivered
primary uterine inertia - delivered (disorder)
primary uterine inertia, with delivery
obsolete Prolonged first stage of labor
obsolete abnormality of forces of labor
obsolete dystocia
obsolete prolonged labor
impetigo herpetiformis
An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.
dermatitis herpetiformis
Dermatosis herpetiformis
Duhring's disease
bullous pemphigoid
A pemphigoid that is characterized by large blisters.
juvenile dermatitis herpetiformis
subcorneal pustular dermatosis
Sneddon-Wilkinson disease or syndrome
Bartholin's duct cyst
A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands.
Bartholin duct cyst
Bartholin's Cyst
Cyst of Bartholin's gland
Cyst of Bartholin's gland duct
puerperal pulmonary embolism
pulmonary embolism
An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
pulmonary artery embolism
pulmonary embolus
acute pulmonary heart disease
pulmonary embolism and infarction
acute cor pulmonale
barbiturate abuse
A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.
obsolete recurrent manic episodes
obsolete nodular lymphoma involving lymph nodes of axilla and upper limb
nodular lymphoma of lymph nodes of axilla and upper limb (disorder)
obsolete nodular lymphoma
Follicle Center Lymphoma
Follicular low grade B-cell lymphoma (disorder)
Follicular non-Hodgkin's lymphoma (disorder)
Giant follicular lymphosarcoma
malignant lymphoma, follicle centre
malignant lymphoma, nodular NOS (morphologic abnormality)
nodular lymphoma (Brill - Symmers disease)
obsolete nodular lymphoma involving intra-abdominal lymph nodes
monocytic leukemia
A myeloid leukemia that is characterized by a dominance of monocytes in the marrow.
Schilling's leukaemia
Schilling's leukemia
monocytic leukaemia
myeloid leukemia
A leukemia that is located_in myeloid tissue.
Non-Lymphocytic Leukemia
leukaemia myelogenous
leukemia myelogenous
myeloid granulocytic leukaemia
myeloid granulocytic leukemia
myeloid leukaemia
ulcer of lower limbs
A chronic ulcer of skin where the ulcer is not a decubitus ulcer.
Ulcer of ankle
Ulcer of calf
Ulcer of heel and midfoot
Ulcer of thigh
chronic ulcer of skin
Callous ulcer
Indolent ulcer
polymyalgia rheumatica
A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.
obsolete toxic gastroenteritis and colitis
hypopharynx cancer
A pharynx cancer that is located_in the hypopharynx.
Hypopharyngeal cancer
malignant Hypopharyngeal tumor
malignant neoplasm of hypopharynx
malignant tumor of hypopharynx
malignant tumour of hypopharynx
gastroesophageal reflux disease
Acid reflux
GERD
GERD - Gastro-esophageal reflux disease
Gastresophageal reflux
Gastro-esophageal reflux
Gastroesophageal reflux
obsolete ophthalmic herpes zoster
A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection.
Herpes zoster ophthalmicus
Herpes zoster ophthalmicus (disorder)
Herpes zoster with ophthalmic complication (disorder)
Herpes zoster with other ophthalmic complication (disorder)
Ophthalmic herpes zoster infection
herpes zoster with other ophthalmic complications
herpes zoster
A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.
Shingles
herpes zona
reticulosarcoma
histiocytic lymphoma
large-cell Lymphomas
obsolete recurrent manic episodes in full remission
Manic disorder, recurrent episode, in full remission
recurrent manic episodes, in full remission (disorder)
obsolete Sezary's disease involving lymph nodes of head, face, and neck
Sezary's disease involving lymph nodes of head, face and neck
Sezary's disease of lymph nodes of head, face and neck (disorder)
Szary's disease of lymph nodes of head, face and/or neck (disorder)
Sezary's disease
Sezary disease
Sezary syndrome
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb
Hodgkin's lymphoma, lymphocytic-histiocytic predominance
Hodgkin lymphoma, lymphocyte-rich
Hodgkin lymphoma, lymphocytic-histiocytic predominance
Hodgkin's disease, lymphocyte predominance
Lymphocyte Rich Hodgkin's disease
Hodgkin's lymphoma
A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Hodgkin disease
Hodgkin lymphoma
Hodgkin's sarcoma
Hodgkins lymphoma
stage I Subdiaphragmatic Hodgkin Lymphoma
stage II Subdiaphragmatic Hodgkin Lymphoma
chronic fatigue syndrome
A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.
CFS
Myalgic encephalitis
Myalgic encephalomyelitis
Postviral fatigue syndrome
malignant hyperthermia
A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
anesthesia related hyperthermia
malignant hyperpyrexia due to anesthesia
pyoderma gangrenosum
vallecula cancer
malignant tumor of vallecula
obsolete carcinoma in situ of female genital organs
carcinoma in situ of other and unspecified female genital organs (disorder)
biotinidase deficiency
A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
BTD deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
deficiency of biotinidase
multiple carboxylase deficiency
An amino acid metabolic disorder that involves failures of carboxylation enzymes.
obsolete carcinoma in situ of breast and genitourinary system
carcinoma in situ of breast and genitourinary system (disorder)
lip cancer
malignant neoplasm of commissure of lip
malignant neoplasm of external Lip, not specified as upper or lower
malignant neoplasm of labial commissure of lip
malignant neoplasm of lip
malignant neoplasm of lip, external
malignant neoplasm of lip, inner aspect
malignant neoplasm of lip, vermilion border
malignant neoplasm of lower lip, buccal aspect
malignant neoplasm of lower lip, inner aspect
malignant neoplasm of lower lip, mucosa
malignant neoplasm of lower lip, oral aspect
malignant neoplasm of oral aspect of lip, not specified whether upper or lower
malignant neoplasm of other sites of lip
malignant neoplasm of vermilion border of lip
malignant tumor of commissure of lip
malignant tumor of labial mucosa
malignant tumor of lip
malignant tumor of lower labial mucosa
malignant tumor of the Lip
malignant tumour of labial commissure
malignant tumour of lip
herpes simplex
A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.
Herpesvirus hominis disease
infectious mononucleosis
A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
Filatov's disease
Gammaherpesviral mononucleosis
Monocytic angina
Pfeiffer's disease
glandular fever
mononucleosis
lichen nitidus
Pinkus' disease
lichen disease
ulcerative colitis
A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
Left-sided ulcerative colitis
soft palate cancer
malignant tumor of soft palate
malignant tumor of the soft Palate
obsolete malignant histiocytosis
Stewart's granuloma
obsolete Burkitt's tumor or lymphoma involving intrathoracic lymph nodes
Burkitt's lymphoma of intrathoracic lymph nodes (disorder)
Burkitt lymphoma
A mature B-cell neoplasm of B-cells found in the germinal center.
Burkitt lymphoma/leukaemia
Burkitt's Lymphoma
Burkitt's tumor
Burkitt's tumor or lymphoma
malignant lymphoma, Burkitt's type
small Non-Cleaved cell Lymphoma, Burkitt's type
obsolete dysplasia of cervix
Cervix Dysplasia
Dysplasia of cervix (disorder)
Dysplasia of cervix (uteri)
Dysplasia of cervix NOS (disorder)
Dysplasia of cervix uteri
Dysplasia of cervix uteri (disorder)
Low-grade Intraepithelial Neoplasia of Cervix Uteri
Mild dysplasia of cervix
Moderate dysplasia of cervix
Moderate squamous Dysplasia of the Cervix
cervical dysplasia
cervical dysplasia NOS
cervical intraepithelial neoplasia I [CIN I]
cervical intraepithelial neoplasia grade 1
cervical intraepithelial neoplasia grade 1 (disorder)
cervical intraepithelial neoplasia grade 2
cervical intraepithelial neoplasia grade 2 (disorder)
obsolete Burkitt's tumor or lymphoma extranodal and solid organ sites
holocarboxylase synthetase deficiency
A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Biotin-(propionyl-CoA-carboxylase) ligase deficiency
Multiple carboxylase deficiency - neonatal onset
acute vascular insufficiency of intestine
acute GIT vascular insuffic.
acute gastrointestinal tract vascular insuffic.
acute intestinal Ischemia
acute intestinal vascular insufficiency
obsolete reticulosarcoma involving lymph nodes of inguinal region and lower limb
Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder)
chronic monocytic leukemia
scarlet fever
An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash.
Scarlatina
obsolete mild degree recurrent episode manic disorder
obsolete Sezary's disease involving lymph nodes of inguinal region and lower limb
Sezary's disease of lymph nodes of inguinal region and lower limb (disorder)
Szary's disease of lymph nodes of inguinal region and/or lower limb
obsolete carcinoid syndrome
Excessive serotonin secretion
Hormone secretion by carcinoid tumors
Hormonal tumour
upper gum cancer
malignant tumor of upper gingiva
malignant tumour of upper gum
gum cancer
malignant Gingival tumor
malignant neoplasm of gum
malignant neoplasm of other sites of gum
malignant tumor of gum
malignant tumour of gingiva
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes
herpetic whitlow
A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2) and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes.
Herpetic felon
obsolete moderate degree recurrent episode manic disease
obsolete drug induced sleep disorder
obsolete spontaneous abortion complicated by shock
spontaneous abortion complicated by shock (disorder)
spontaneous abortion, unspecified, complicated by shock
Peyronie's disease
Induratio penis plastica
Peyronie disease
Peyronie's Fibromatosis
diplegia of upper limb
Diplegia of upper limbs
Diplegia, upper
obsolete reticulosarcoma involving intrapelvic lymph nodes
Reticulosarcoma of intrapelvic lymph nodes
Reticulosarcoma of intrapelvic lymph nodes (disorder)
measles
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.
morbilli
rubeola
obsolete adhesions and disruptions of pupillary membranes
obsolete postherpetic trigeminal neuralgia
A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain.
Post-herpetic trigeminal neuralgia
Post-herpetic trigeminal neuralgia (disorder)
obsolete Sezary's disease involving spleen
Sezary's disease of spleen (disorder)
Szary's disease of spleen (disorder)
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder)
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb
Hodgkin's lymphoma, lymphocytic depletion
Hodgkin lymphoma, lymphocyte depletion
Hodgkin's disease, lymphocytic depletion
Hodgkin's lymphocytic depletion of unspecified site
Lymphocyte-Depleted Classical Hodgkin Lymphoma
upper lip cancer
Kaposi's sarcoma
A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).
Kaposi sarcoma
Kaposi's sarcoma of Heart
Kaposi's sarcoma of anus
Kaposi's sarcoma of central nervous system
Kaposi's sarcoma of conjunctiva
Kaposi's sarcoma of cornea
Kaposi's sarcoma of esophagus
Kaposi's sarcoma of gastrointestinal sites
Kaposi's sarcoma of lung
Kaposi's sarcoma of lymph nodes
Kaposi's sarcoma of palate
Kaposi's sarcoma of penis
Kaposi's sarcoma of skin
Kaposi's sarcoma of soft tissue
Kaposi's sarcoma of soft tissues
Kaposi's sarcoma of the CNS
Kaposi's sarcoma of the gallbladder
Kaposi's sarcoma of the prostate
Kaposi's sarcoma, lung
Kaposi's sarcoma, skin
anal Kaposi's sarcoma
cardiac Kaposi's sarcoma
central nervous system Kaposi's sarcoma
conjunctival Kaposi's sarcoma
corneal Kaposi's sarcoma
cutaneous Kaposi's sarcoma
esophageal Kaposi's sarcoma
gallbladder Kaposi's sarcoma
gastric Kaposi's sarcoma
intestinal Kaposi's sarcoma
lymph node Kaposi's sarcoma
lymphadenopathic Kaposi's sarcoma
palate Kaposi's sarcoma
penis Kaposi's sarcoma
prostate Kaposi's sarcoma
pulmonary Kaposi's sarcoma
soft tissue Kaposi's sarcoma
African lymphadenopathic Kaposi's sarcoma
Kaposi's sarcoma-associated herpesvirus (KSHV)
chronic intestinal vascular insufficiency
CMI - chronic mesenteric ischaemia
chronic mesenteric ischemia
prostate carcinoma in situ
An in situ carcinoma that is located_in the prostate.
PIN III
carcinoma in situ of prostate
grade III PIN
uvula cancer
malignant Uvular tumor
malignant tumor of uvula
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder)
obsolete alcohol withdrawal delirium
Alcohol Withdrawal Delirium
Alcohol withdrawal delirium (disorder)
Alcoholic delirium
Delirium tremens
Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder)
delirium tremens
obsolete reticulosarcoma involving lymph nodes of multiple sites
Reticulosarcoma of lymph nodes of multiple sites
Reticulosarcoma of lymph nodes of multiple sites (disorder)
obsolete Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb
Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder)
Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's paragranuloma
Hodgkin paragranuloma
gastroduodenitis
subacute delirium
obsolete Hodgkin's granuloma involving intrapelvic lymph nodes
Hodgkin's granuloma of intrapelvic lymph nodes
Hodgkin's granuloma of intrapelvic lymph nodes (disorder)
Hodgkin's granuloma
Hodgkin granuloma
obsolete Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes
Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes
Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder)
Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes
Hodgkin's lymphoma, mixed cellularity
Hodgkin's disease, mixed cellularity
obsolete Sezary's disease involving lymph nodes of multiple sites
chickenpox
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
varicella
postcricoid region cancer
malignant Postcricoid tumor
malignant tumor of pharyngoesophageal junction
lip carcinoma in situ
An oral cavity carcinoma in situ that is located_in the lip.
obsolete carcinoma in situ of digestive organ
A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues.
carcinoma in situ of digestive organ
carcinoma in situ of digestive organ (disorder)
carcinoma in situ of digestive organ NOS
carcinoma in situ of digestive organ, unspecified (disorder)
carcinoma in situ of digestive organs
carcinoma in situ of digestive organs NOS (disorder)
carcinoma in situ of other and unspecified digestive organs (disorder)
aryepiglottic fold cancer
malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold
malignant tumor aryepiglottic fold - hypopharyngeal aspect
obsolete nodular lymphoma involving intrapelvic lymph nodes
nodular lymphoma of intrapelvic lymph nodes
nodular lymphoma of intrapelvic lymph nodes (disorder)
obsolete Hodgkin's sarcoma involving intra-abdominal lymph nodes
Hodgkin's sarcoma of intra-abdominal lymph nodes
Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder)
maxillary sinus cholesteatoma
A cholesteatoma located_in paranasal sinus.
viral exanthem
An exanthem that has_material_basis_in viruses.
obsolete lymphosarcoma involving intrapelvic lymph nodes
lymphosarcoma has been obsoleted in NCI.
obsolete ymphosarcoma
A sarcoma that has_material_basis_in lymphatic tissue.
obsolete malignant histiocytosis involving lymph nodes of multiple sites
malignant histiocytosis of lymph nodes of multiple sites (disorder)
perinatal necrotizing enterocolitis
ENTEROCOLITIS NECROTIZING
Necrotizing enterocolitis in fetus OR newborn
Perinatal necrotising enterocolitis
Pseudomembranous enterocolitis in newborn
necrotizing enterocolitis
alcoholic gastritis
Alcoholic gastritis, with hemorrhage
Alcoholic gastritis, without mention of hemorrhage
paraneoplastic polyneuropathy
myeloid sarcoma
Chloroma
Extramedullary Myeloid tumor
Granulocytic sarcoma
skin carcinoma in situ
A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
Cutaneous carcinoma in situ
carcinoma in situ of skin
tonsillar pillar cancer
malignant neoplasm of tonsillar pillar
malignant neoplasm of tonsillar pillars, posterior
malignant tumor of tonsillar pillar
malignant tumour of tonsillar pillar
anorexia nervosa
An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
obsolete Mycosis fungoides involving lymph nodes of head, face, and neck
Mycosis fungoides involving lymph nodes of head, face and neck
Mycosis fungoides of lymph nodes of head, face and/or neck (disorder)
Mycosis fungoides of the lymph nodes of head, face and neck (disorder)
mycosis fungoides
mycosis fungoides lymphoma
subacute monocytic leukemia
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck
cheek mucosa cancer
malignant neoplasm of buccal mucosa
malignant neoplasm of cheek, inner aspect
malignant neoplasm of the Buccal Mucosa
malignant tumor of buccal mucosa
obsolete penis herpetic infectious disease
A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area.
Herpetic infection of penis (disorder)
genital herpes
A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
Genital herpes simplex
Herpes Genitalis
Virus-Genital Herpes
venereal herpes
obsolete lymphosarcoma and reticulosarcoma
Lymphosarcoma and reticulosarcoma (disorder)
Other named variants of lymphosarcoma and reticulosarcoma
Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes
Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes
Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb
Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites
Other named variants of lymphosarcoma and reticulosarcoma involving spleen
Other named variants of lymphosarcoma and reticulosarcoma, unspecified site
decubitus ulcer
A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
Decubitus (pressure) ulcer
Decubitus ulcer any site
pressure sores
pressure ulcer
bedsore
obsolete carcinoma in situ of respiratory system
A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues.
carcinoma in situ of respiratory tract (disorder)
obsolete soft tissue disease
Connective and soft tissue disease
Connective and soft tissue disorder
disease of deep fascial system
tissue disease
vascular dementia
A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
Multi Infarct Dementia
multifocal dementia
milker's nodule
A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus (Parapoxvirus pseudocowpox), which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy.
Milkers' node
Paravaccinia
milker nodule
Pseudocowpox
anaerobic pneumonia
An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease.
pneumonia due to anaerobes
carotid body cancer
A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery.
malignant Carotid body Paraganglioma
malignant carotid body tumor
cancer of carotid body
leukoplakia of penis
Kraurosis of penis
Penile Leukoplakia
seborrheic dermatitis
A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
SKIN SEBORRHEIC
Seborrhoeic dermatitis
Seborrhoeic eczema
seborrhea
obsolete Hodgkin's granuloma involving lymph nodes of head, face, and neck
Hodgkin's granuloma involving lymph nodes of head, face and neck
Hodgkin's granuloma of lymph nodes of head, face and neck (disorder)
Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder)
erythema infectiosum
A viral exanthem that has_material_basis_in Human parvovirus B19 (Erythroparvovirus primate1).
Fifth disease
obsolete universal ulcerative colitis
chronic universal ulcerative colitis
universal ulcerative (chronic) colitis
obsolete subacute myeloid leukemia
obsolete acute dermatitis due to solar radiation
obsolete actinic reticuloid and actinic granuloma
obsolete Hodgkin's granuloma involving intrathoracic lymph nodes
obsolete tuberculous pneumonia
A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occurred to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus.
tuberculous bronchopneumonia
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb
gastric mucosal hypertrophy
Giant rugal hypertrophy of stomach
MENETRIER DISEASE
familial giant hypertrophic gastritis
hypertrophic gastritis
hypertrophic gastropathy
obsolete lymphosarcoma involving lymph nodes of multiple sites
pyomyositis
Tropical pyomyositis
obsolete Herpes simplex virus otitis externa
A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal.
Herpes simplex otitis externa (disorder)
obsolete Herpes simplex virus septicemia
A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate.
Herpes simplex septicemia (disorder)
visceral herpes simplex
obsolete lymphosarcoma involving intra-abdominal lymph nodes
obsolete malignant histiocytosis involving lymph nodes of axilla and upper limb
obsolete nodular lymphoma involving spleen
obsolete malignant histiocytosis involving lymph nodes of inguinal region and lower limb
malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder)
malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder)
obsolete reticulosarcoma involving intra-abdominal lymph nodes
Reticulosarcoma of intra-abdominal lymph nodes
Reticulosarcoma of intra-abdominal lymph nodes (disorder)
contagious pustular dermatitis
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus (Parapoxvirus orf), which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis.
Ecthyma contagiosum
Ecthyma, Contagious
Orf
scabby mouth
sheep pox
thistle disease
obsolete nodular lymphoma involving lymph nodes of head, face, and neck
nodular lymphoma involving lymph nodes of head, face and neck
nodular lymphoma of lymph nodes of head, face and neck (disorder)
nodular lymphoma of lymph nodes of head, face, and neck (disorder)
obsolete ulcerative proctosigmoiditis
Proctosigmoiditis (disorder)
chronic ulcerative rectosigmoiditis (disorder)
proctosigmoiditis
ulcerative (chronic) proctosigmoiditis
ulcerative proctosigmoiditis
rubella
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus (Rubivirus rubellae), which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.
german measles
obsolete postherpetic polyneuropathy
A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching.
disseminated chorioretinitis
eye carcinoma in situ
A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues.
carcinoma in situ of eye
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes
Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes
obsolete Hodgkin's granuloma involving spleen
Hodgkin's granuloma of spleen
Hodgkin's granuloma of spleen (disorder)
obsolete Hodgkin's lymphoma, mixed cellularity, involving spleen
Hodgkin's disease, mixed cellularity of spleen
Hodgkin's disease, mixed cellularity of spleen (disorder)
Hodgkin's disease, mixed cellularity, involving spleen
trachea carcinoma in situ
An in situ carcinoma that is located_in the trachea.
Tracheal carcinoma In situ
carcinoma in situ of trachea
obsolete repetitive intrusions of sleep
Repetitive intrusions of sleep (disorder)
intermediate coronary syndrome
Angina at rest
Anginal chest pain at rest
Impending infarction
Preinfarction angina
Unstable angina
Worsening angina
obsolete malignant histiocytosis involving intrapelvic lymph nodes
malignant histiocytosis of intrapelvic lymph nodes (disorder)
obsolete allergic gastroenteritis and colitis
obsolete malignant histiocytosis involving intrathoracic lymph nodes
malignant histiocytosis of intrathoracic lymph nodes (disorder)
obsolete Measles virus otitis media
A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear.
postmeasles otitis media
heterophyiasis
A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected.
heterophyes infectious disease
obsolete ulcerative ileocolitis
chronic ulcerative ileocolitis
chronic ulcerative ileocolitis (disorder)
ulcerative (chronic) ileocolitis
obsolete Hodgkin's paragranuloma involving spleen
Hodgkin's Paragranuloma Involving Spleen
Hodgkin's paragranuloma of spleen
Hodgkin's paragranuloma of spleen (disorder)
colon carcinoma in situ
An intestine carcinoma in situ that is located_in the colon.
carcinoma in situ of colon
stage 0 Colonic carcinoma
intestine carcinoma in situ
An in situ carcinoma that is located_in the intestine.
obsolete systemic inflammatory response syndrome
SIRS
systemic inflammatory response syndrome (SIRS) NOS
systemic inflammatory response syndrome, unspecified
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites
Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites
obsolete Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck
Burkitt's lymphoma of lymph nodes of head, face and neck (disorder)
Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck
obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck
Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck
Hodgkin's lymphoma, nodular sclerosis
Classical Hodgkin lymphoma, nodular sclerosis
obsolete herpes zoster keratoconjunctivitis
An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain.
Herpes zoster keratitis
metagonimiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.
Infection by Metagonimus yokogawai
obsolete tuberculous erythema nodosum
Erythema nodosum with hypersensitivity reaction in tuberculosis
Erythema nodosum with tuberculosis NOS (disorder)
Erythema nodosum, tuberculous
Tuberculous erythema nodosum
Tuberculous erythema nodosum (disorder)
obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites
Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites
Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder)
nodular Sclerosis Hodgkin's Lymphoma stage III
Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites
fascioliasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
Fasciola hepatica infection
Infection by Fasciola
Liver flukes
Sheep liver fluke infection
obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes
Hodgkin's granuloma of intra-abdominal lymph nodes (disorder)
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes
obsolete lymphosarcoma involving spleen
pulmonary subvalvular stenosis
Congenital Infundibular Stenosis
Infundibular pulmonic stenosis
Infundibular pulmonic stenosis, congenital
Subvalvular pulmonic stenosis
pulmonary infundibular stenosis
actinic keratosis
SK - Solar keratosis
Senile hyperkeratosis
Solar keratosis
actinic (Solar) Keratosis
molluscum contagiosum
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.
obsolete Mycosis fungoides involving lymph nodes of multiple sites
Mycosis fungoides of lymph nodes of multiple sites (disorder)
neuromyelitis optica
A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
Devic's disease
Devic's syndrome
obsolete Trematoda infectious disease
A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream.
Fluke infection
Trematode infestation
obsolete nodular lymphoma involving intrathoracic lymph nodes
nodular lymphoma of intrathoracic lymph nodes
nodular lymphoma of intrathoracic lymph nodes (disorder)
obsolete Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites
Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites
penis carcinoma in situ
An in situ carcinoma that is located_in the penis.
Bowen's disease of penis
Penile intraepithelial neoplasia grade III
Queyrat's erythroplasia
carcinoma in situ of penis
grade III squamous Intraepithelial Lesion of penis
obsolete Hodgkin's sarcoma involving lymph nodes of multiple sites
Hodgkin's sarcoma of lymph nodes of multiple sites (disorder)
obsolete herpetic vulvovaginitis
A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions.
Herpetic Vulvovaginitis
Herpetic vulvovaginitis (disorder)
fasciolopsiasis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction.
Infection by Fasciolopsis buski
Infectious Disease by Fasciolopsis
rosacea
Acne roscea
Acne, erythematosa
lower lip cancer
obsolete inborn metabolic brain disease
pityriasis rosea
A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs.
Pityriasis circinata
obsolete Hodgkin's granuloma involving lymph nodes of axilla and upper limb
Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder)
Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder)
obsolete nodular lymphoma involving lymph nodes of inguinal region and lower limb
nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder)
obsolete herpes zoster otitis externa
A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge.
Herpes zoster otitis externa
Otitis externa due to Herpes zoster (disorder)
obsolete ulcerative proctitis
Nonspecific ulcerative proctitis (disorder)
chronic ulcerative proctitis
chronic ulcerative proctitis (disorder)
ulcerative (chronic) proctitis
tinea nigra
A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.
Infection by Cladosporium werneckii
Keratomycosis nigricans
Tinea palmaris nigra
microsporosis nigra
obsolete Burkitt's tumor or lymphoma involving intrapelvic lymph nodes
Burkitt's lymphoma of intrapelvic lymph nodes (disorder)
obsolete herpes zoster meningitis
A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions.
obsolete mycosis fungoides involving lymph nodes of axilla and upper limb
obsolete Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb
Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder)
obsolete Mycosis fungoides involving lymph nodes of inguinal region and lower limb
Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder)
Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder)
leukoplakia of vagina
A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin.
vaginal Leukoplakia
obsolete noninflammatory vaginal disorder
autoimmune thrombocytopenic purpura
A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
Immune thrombocytopenic purpura
idiopathic thrombocytopenic purpura
primary thrombocytopenic purpura
Ideopath thrombocytopenic pur
Idiopathic purpura
werlhof's disease
primary thrombocytopenia
obsolete lymphosarcoma involving lymph nodes of head, face, and neck
atrophic gastritis
gastric atrophy
Wilson disease
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
Cerebral pseudosclerosis
Westphal pseudosclerosis
Westphal-Strumpell syndrome
Wilson's disease
hepatolenticular degeneration
retromolar area cancer
malignant tumor of retromolar area
Evans' syndrome
obsolete herpes zoster iridocyclitis
An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision.
Herpes zoster iridocyclitis (disorder)
plantar fascial fibromatosis
A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture.
Dupuytren's contracture of foot
Ledderhose's disease
Waldeyer's ring cancer
Waldeyer ring cancer
malignant neoplasm of Waldeyer's ring
malignant tumor of Waldeyer's ring
obsolete reticulosarcoma involving intrathoracic lymph nodes
Reticulosarcoma of intrathoracic lymph nodes
Reticulosarcoma of intrathoracic lymph nodes (disorder)
obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb
Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb
obsolete nervous system heredodegenerative disease
seborrheic infantile dermatitis
A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp.
Complement 5 dysfunction
Generalized seborrheic dermatitis of infants
Infantile seborrheic dermatitis
Infantile seborrhoeic dermatitis
Pityriasis capitis
Seborrhea sicca
Seborrhoea capitis
Seborrhoeic dermatitis of scalp
Seborrhoeic eczema of scalp
cradle cap
seborrhea capitis
severe nonproliferative diabetic retinopathy
High risk non proliferative diabetic retinopathy
Severe NPDR
obsolete copper metabolism disease
Copper disorder
disorder of copper metabolism
disorder of copper metabolism (disorder)
disorder of copper metabolism NOS (disorder)
cowpox
A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus (Orthopoxvirus cowpox), which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face.
yaba
obsolete lymphosarcoma involving lymph nodes of axilla and upper limb
obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb
obsolete Measles virus keratoconjunctivitis
A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness.
obsolete Hodgkin's sarcoma involving spleen
Hodgkin's sarcoma of spleen
Hodgkin's sarcoma of spleen (disorder)
tonsillar fossa cancer
malignant neoplasm of tonsillar fossa
malignant tumor of tonsillar fossa
subacute sclerosing panencephalitis
A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.
Dawson's encephalitis
Dawson's inclusion body encephalitis
SSPE
Van Bogaert's sclerosing leukoencephalitis
subacute sclerosing leukoencephalopathy
obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites
mixed cellularity Hodgkin's disease stage III
Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites
obsolete Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb
Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder)
obsolete peripheral lymph node tuberculosis
Tuberculosis of peripheral lymph nodes (disorder)
Tuberculosis of peripheral lymph nodes NOS (disorder)
Tuberculosis of peripheral lymph nodes, unspecified examination
tuberculosis of peripheral lymph nodes
obsolete malignant histiocytosis involving lymph nodes of head, face, and neck
malignant histiocytosis involving lymph nodes of head, face and neck
malignant histiocytosis of lymph nodes of head, face and neck (disorder)
malignant histiocytosis of lymph nodes of head, face and/or neck (disorder)
obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb
Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder)
Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes
Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes
Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder)
Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen
Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder)
Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder)
Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen
narcolepsy
A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Narcolepsy, without cataplexy
paroxysmal sleep
choledochal cyst
A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts.
Congenital choledochal cyst
bile duct cyst
biliary cyst
obsolete Hodgkin's granuloma involving lymph nodes of multiple sites
Hodgkin's granuloma of lymph nodes of multiple sites (disorder)
cervix uteri carcinoma in situ
An uterus carcinoma in situ that is located_in the uterine cervix.
CIN III
CIN III - carcinoma in situ of cervix
CIN III - severe dyskaryosis
Cervix Ca in situ
Severe Dysplasia of the Cervix Uteri
Severe dysplasia of cervix
carcinoma in situ of cervix
carcinoma in situ of uterine cervix
carcinoma of cervix stage 0
cervical intraepithelial neoplasia grade III with severe dysplasia
squamous intraepithelial neoplasia, grade III
uterus carcinoma in situ
An in situ carcinoma that is located_in the uterus.
obsolete Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb
Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder)
obsolete Hodgkin's sarcoma involving lymph nodes of head, face, and neck
Hodgkin's sarcoma involving lymph nodes of head, face and neck
Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder)
Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder)
obsolete malignant histiocytosis involving intra-abdominal lymph nodes
polycythemia vera
A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.
Osler-Vaquez syndrome
Polycythaemia rubra vera
Proliferative polycythaemia
chronic erythremia
degenerative disc disease
A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
cervical disc degenerative disease
intervertebral disc degeneration
lumbar disc degeneration
vertebral disc disease
hepatopulmonary syndrome
obsolete Hodgkin's lymphoma, nodular sclerosis, involving spleen
Hodgkin's disease, nodular sclerosis of spleen
Hodgkin's disease, nodular sclerosis of spleen (disorder)
Hodgkin's disease, nodular sclerosis, involving spleen
sudden infant death syndrome
A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
Cot death
Crib death
SIDS
Sudden death of nonspecific cause in infancy
psoriatic arthritis
An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
arthritis psoriatica
arthropathic psoriasis
psoriatic arthropathy
liver lymphoma
Lymphoma of Liver
obsolete Burkitt's tumor or lymphoma involving lymph nodes of multiple sites
Burkitt's lymphoma of lymph nodes of multiple sites (disorder)
larynx carcinoma in situ
An in situ carcinoma that is located_in the larynx.
carcinoma in situ of larynx
stage 0 carcinoma of the Larynx
obsolete Sezary's disease involving lymph nodes of axilla and upper limb
Sezary's disease of lymph nodes of axilla and upper limb (disorder)
Szary's disease of lymph nodes of axilla and/or upper limb (disorder)
obsolete Mycosis fungoides involving spleen
Mycosis fungoides of spleen
Mycosis fungoides of spleen (disorder)
obsolete malignant non-epithelial hepatic and intrahepatic bile duct neoplasm
obsolete reticulosarcoma involving spleen
Reticulosarcoma Involving Spleen
Reticulosarcoma of spleen
Reticulosarcoma of spleen (disorder)
esophageal leukoplakia
Leukoplakia of esophagus
obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes
Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes
Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes
gastrointestinal lymphoma
obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb
Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder)
Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder)
obsolete Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb
Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder)
obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck
Hodgkin's paragranuloma involving lymph nodes of head, face and neck
Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder)
Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder)
obsolete reticulosarcoma involving lymph nodes of head, face, and neck
Reticulosarcoma involving lymph nodes of head, face and neck
Reticulosarcoma of lymph nodes of head, face and neck (disorder)
Reticulosarcoma of lymph nodes of head, face, and neck (disorder)
obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb
Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb
polyp of corpus uteri
endometrial/uterine polyp
polyp of Endometrium
polyp of the Uterus
polyp, uterus
uterine cervix leukoplakia
A cervix disease that is characterized by the presence of a hyperkeratotic lesion.
Leukoplakia of cervix
Leukoplakia of cervix uteri
Leukoplakia of the uterine Cervix
obsolete nodular lymphoma involving lymph nodes of multiple sites
nodular lymphoma of lymph nodes of multiple sites
nodular lymphoma of lymph nodes of multiple sites (disorder)
obsolete Herpes simplex virus meningitis
A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism.
Herpes simplex meningitis (disorder)
Mollaret's meningitis
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb
Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder)
Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder)
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb
bladder carcinoma in situ
An in situ carcinoma that is located_in the bladder.
Flat CIS of the urinary bladder
bladder Ca in situ
carcinoma in situ of bladder
obsolete lymphosarcoma involving intrathoracic lymph nodes
obsolete Herpes simplex virus gingivostomatitis
A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever.
herpetic gingivostomatitis
primary herpetic gingivostomatitis
pityriasis versicolor
A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.
Infection by Pityrosporum furfur
obsolete alcohol induced sleep disorder
obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites
Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites
leishmaniasis
A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).
Post Kala-Azar Dermal Leishmaniasis
Post-kala-azar dermal leishmaniasis
post-kala-azar dermal infectious disease by leishmaniasis
obsolete Hodgkin's paragranuloma involving intrathoracic lymph nodes
Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder)
liver fibroma
Fibroma of the Liver
obsolete pseudopolyposis of colon
Colonic Inflammatory polyp
Pseudopolyposis of colon (disorder)
obsolete malignant histiocytosis involving spleen
malignant histiocytosis of spleen (disorder)
lethal midline granuloma
Midfacial Necrotising Lesion
malignant granuloma of face
systemic lupus erythematosus
A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
Lupus Erythematosus, systemic
SLE - Lupus Erythematosus, systemic
disseminated lupus erythematosus
discoid lupus erythematosus of eyelid
obsolete Hodgkin's paragranuloma involving intrapelvic lymph nodes
Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder)
obsolete Hodgkin's paragranuloma involving lymph nodes of multiple sites
Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder)
macroglobulinemia
primary macroglobulinemia
obsolete mycosis fungoides involving intrathoracic lymph nodes
Mycosis fungoides of intrathoracic lymph nodes
Mycosis fungoides of intrathoracic lymph nodes (disorder)
obsolete Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes
Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes
Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes
anal carcinoma in situ
An in situ carcinoma that is located_in the anus.
anal carcinoma stage 0
anal intraepithelial neoplasia grade III
carcinoma in situ of anal canal
carcinoma in situ of anus
parapsoriasis
REM sleep behavior disorder
A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
REM sleep behaviour disorder
Rapid eye movement sleep behavior disorder
Rapid eye movement sleep behaviour disorder
obsolete Hodgkin's sarcoma involving intrathoracic lymph nodes
Hodgkin's sarcoma of intrathoracic lymph nodes
Hodgkin's sarcoma of intrathoracic lymph nodes (disorder)
obsolete Hodgkin's paragranuloma involving intra-abdominal lymph nodes
Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder)
esophagus carcinoma in situ
An in situ carcinoma that is located_in the esophagus.
Severe esophageal dysplasia
carcinoma in situ of esophagus
carcinoma in situ of oesophagus
oesophagus carcinoma in situ
stage 0 carcinoma of the esophagus
stage 0 carcinoma of the oesophagus
erythematosquamous dermatosis
Other erythematosquamous dermatosis
occipital lobe neoplasm
malignant neoplasm of occipital lobe
neoplasm of occipital lobe
tumor of Occipital Lobe
obsolete carcinoma in situ of male genital organs
carcinoma in situ of other and unspecified male genital organs (disorder)
obsolete mycosis fungoides involving intrapelvic lymph nodes
Mycosis fungoides of intrapelvic lymph nodes
Mycosis fungoides of intrapelvic lymph nodes (disorder)
obsolete mycosis fungoides involving intra-abdominal lymph nodes
Mycosis fungoides of intra-abdominal lymph nodes
Mycosis fungoides of intra-abdominal lymph nodes (disorder)
cutaneous leishmaniasis
A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
Asian Desert Cutaneous Leishmaniasis
Leproid leishmaniasis
diffuse cutaneous leishmaniasis
obsolete Varicella-zoster virus pneumonia
A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis.
Hemorrhagic varicella pneumonitis
Varicella pneumonitis
obsolete Rubella virus arthritis
A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains.
rubella arthritis
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving spleen
Hodgkin's disease, lymphocytic depletion of spleen
Hodgkin's disease, lymphocytic depletion of spleen (disorder)
Hodgkin's disease, lymphocytic depletion, involving spleen
obsolete Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites
Hodgkin's disease, mixed cellularity, extranodal and solid organ sites
eczema herpeticum
A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2). The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
Herpes simplex dermatitis of eyelid
Herpes simplex eyelid dermatitis
Herpes simplex virus dermatitis
herpes simplex dermatitis
herpes simplex virus eyelid dermatitis
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes
Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder)
Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes
lower gum cancer
malignant tumor of lower gingiva
malignant tumour of lower gum
obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes
Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes
Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder)
Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes
liver carcinoma in situ
An in situ carcinoma that is located_in the liver.
carcinoma in situ of liver and biliary system
carcinoma in situ of liver, gallbladder and bile ducts
stomach carcinoma in situ
An in situ carcinoma that is located_in the stomach.
carcinoma in situ of stomach
gastric carcinoma in situ
peliosis hepatis
hepatic peliosis
xeroderma of eyelid
obsolete Herpes simplex virus meningoencephalitis
A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage.
Herpetic meningoencephalitis (disorder)
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites
Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites
Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder)
stage III Hodgkin's Lymphoma Lymphocyte Depletion type
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites
obsolete Burkitt's tumor or lymphoma involving spleen
Burkitt's lymphoma of spleen (disorder)
Burkitt's tumor of spleen (disorder)
Splenic Burkitt's Lymphoma
visceral leishmaniasis
A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.
Infection by visceral leishmaniasis
Kala-Azar
hard palate cancer
malignant neoplasm of hard palate
malignant tumor of hard palate
malignant tumour of hard palate
obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes
Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes
Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder)
Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes
variola minor
A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions.
Alastrim
cottonpox
milkpox
whitepox
mucocutaneous leishmaniasis
A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
American cutaneous leishmaniasis
American mucocutaneous leishmaniasis
Cutaneous leishmaniasis, American
Mucocutaneous leishmaniasis, American
New World cutaneous leishmaniasis
obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes
Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes
Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder)
Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes
obsolete Sezary's disease involving intra-abdominal lymph nodes
Sezary's disease of intra-abdominal lymph nodes (disorder)
Szary's disease of intra-abdominal lymph nodes (disorder)
gas gangrene
A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis.
Gas bacillus infection
obsolete Sezary's disease involving intrapelvic lymph nodes
Sezary's disease of intrapelvic lymph nodes (disorder)
Szary's disease of intrapelvic lymph nodes (disorder)
neurotic excoriation
Dermatitis artefacta
Dermatitis factitia
Dermatitis ficta
Factitious skin disease
Wiskott-Aldrich syndrome
A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).
Wiskott syndrome
liver leiomyoma
leiomyoma of the Liver
submandibular gland cancer
malignant neoplasm of submaxillary gland
malignant tumor of submandibular gland
malignant tumor of the Submandibular gland
rectum carcinoma in situ
An in situ carcinoma that is located_in the rectum.
Severe Rectal Dysplasia
Severe dysplasia of rectum
carcinoma in situ of rectum
liver inflammatory pseudotumor
Inflammatory Pseudotumor of the Liver
obsolete amebic colitis
An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon.
Amebic nondysenteric colitis (disorder)
amoebic colitis
amebiasis
A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
amoebiasis
entamoebiasis
chronic intestinal amebiasis
obsolete sleep arousal disorder
obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb
Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder)
vestibule of mouth cancer
malignant neoplasm of vestibule of mouth
malignant tumor of vestibule of mouth
obsolete generalized hyperhidrosis
Generalized hyperhidrosis (context-dependent category)
Generalized hyperhidrosis (disorder)
diabetic macular edema
dyskinesia of esophagus
Dyskinesia of oesophagus
Oesophageal dysmotility
Oesophageal motor disorder
esophageal dysmotility
esophageal motility disorder
obsolete Herpes simplex virus keratitis
A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness.
Dendritic Keratitis
herpes simplex disciform keratitis
ocular herpes simplex
obsolete Sezary's disease involving intrathoracic lymph nodes
Sezary's disease of intrathoracic lymph nodes (disorder)
Szary's disease of intrathoracic lymph nodes (disorder)
obsolete cataplexy and narcolepsy
obsolete childhood liver neoplasm
lichen planus
A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.
Lichen, ruber planus
lichen ruber planus
obsolete disorder of optic chiasm associated with pituitary neoplasm and disorder
obsolete Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes
Burkitt's lymphoma of intra-abdominal lymph nodes (disorder)
Barrett's esophagus
An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.
Barrett esophagus
Barrett's esophagus with esophagitis
Barrett's oesophagus
Barrett's ulcer of esophagus
Barretts syndrome
ulcerative esophagitis
periodic limb movement disorder
A sleep disorder that involves involuntary limb movement during sleep.
nocturnal myoclonus
Ramsay Hunt syndrome
A herpes zoster that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
Geniculate herpes zoster
Herpes zoster auricularis
Herpetic geniculate ganglionitis
Ramsay Hunt syndrome type 2
Ramsay Hunt syndrome type II
Ramsey Hunt syndrome
geniculate neuralgia
herpes zoster oticus
nervus intermedius neuralgia
pityriasis rubra pilaris
A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.
Devergie's disease
obsolete Herpes simplex virus iridocyclitis
A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision.
Herpes simplex iridocyclitis (disorder)
obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck
Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck
obsolete herpes zoster eyelid dermatitis
A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection.
Herpes Zoster Dermatitis of eyelid
Herpes zoster dermatitis of eyelids (disorder)
Herpes zoster with dermatitis of eyelid (disorder)
central sleep apnea
A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.
primary central sleep apnea
central sleep apnea syndrome
obsolete lymphosarcoma involving lymph nodes of inguinal region and lower limb
obsolete vulva herpetic infectious disease
obsolete Hodgkin's sarcoma involving intrapelvic lymph nodes
obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck
Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder)
Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder)
Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck
Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck
obsolete congenital rubella
A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester.
Congenital Rubella
Congenital Rubella syndrome
Congenital rubella syndrome
Gestational rubella syndrome (disorder)
pompholyx
A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin.
Cheiropompholyx
DYSHYDROTIC ECZEMA
Vesicular eczema of hands and/or feet
dyshidrosis
kidney carcinoma in situ
An in situ carcinoma that is located_in the kidney.
pyriform sinus cancer
malignant neoplasm of pyriform fossa
malignant neoplasm of the Pyriform Fossa
malignant tumor of pyriform fossa
erythromelalgia
A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.
erythermalgia
obsolete reticulosarcoma involving lymph nodes of axilla and upper limb
Reticulosarcoma of lymph nodes of axilla and upper limb (disorder)
Alagille syndrome
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Alagille-Watson syndrome
Arteriohepatic dysplasia
Pallister-Hall syndrome
A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
Beemer-Langer syndrome
A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.
type IV short rib polydactyly syndrome
acrocallosal syndrome
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
ACLS
SCHINZEL ACROCALLOSAL SYNDROME
Schinzel syndrome 1
gastrointestinal stromal tumor
GANT
GIST
Stromal tumor of gastrointestinal tract
Stromal tumour of gastrointestinal tract
gastrointestinal stromal tumour
mast-cell leukemia
A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood.
nasopharynx carcinoma
A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
Nasopharyngeal carcinoma
malignant Nasopharyngeal tumor
malignant neoplasm of nasopharynx
nasopharynx cancer
carcinoma of nasopharynx
homocystinuria
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
CBS deficiency
cystathionine beta synthase deficiency
cystathionine synthase deficiency
obsolete sulfuraminoacidemia
Disturbance of sulfur-bearing amino acid metabolism NOS (disorder)
Disturbance of sulphur-bearing amino-acid metabolism NOS
Disturbances of sulphur-bearing amino-acid metabolism
Sulphuraminoacidaemia
cystinuria
An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
obsolete metastatic malignant neoplasm to brain
metastatic neoplasm to the Brain
secondary malignant neoplasm of brain (disorder)
alkaptonuria
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Homogentisate 1,2-dioxygenase deficiency
alcaptonuria
deficiency of homogentisicase
ornithine carbamoyltransferase deficiency
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
deficiency of citrulline phosphorylase
ornithine transcarbamylase deficiency
hyperlysinemia
An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
primary cerebellar degeneration
hyperargininemia
An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
Arginase deficiency
argininemia
deficiency of canavanase
hyperhomocysteinemia
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
obsolete CNS metastases
CNS metastases (tumor staging)
metastatic tumor to the CNS
carbamoyl phosphate synthetase I deficiency disease
A urea cycle disorder that involves accumulation of ammonia in the blood.
CPS I deficiency
phenylketonuria
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Folling's disease
PKU
maternal phenylketonuria
phenylalaninemia
priapism
A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
Mentulagra
obsolete penile vascular disorder
vascular disorder of penis
myopathy of extraocular muscle
Myopathy of extraocular muscles
cleft lip
An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
Labium leporinum
cheiloschisis
cleft lip, unilateral, complete
complete unilateral cleft lip
hare lip
myocardium cancer
malignant Myocardial tumor
malignant neoplasm of myocardium
tumor of Myocardium
neurofibroma of the heart
Neurofibroma of Heart
splenic tuberculosis
An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen.
monieziasis
A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep.
chronic ethmoiditis
A ethmoid sinusitis which lasts for 12 weeks or more.
chronic ethmoid sinusitis
chronic ethmoidal sinusitis
ethmoidal sinusitis - chronic
ethmoid sinusitis
A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.
ethmoidal sinusitis
ethmoiditis
obsolete glaucoma associated with anomalies of iris
Glaucoma associated with anomalies of iris (disorder)
lymphangitis
A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning.
obsolete intervertebral disc disorder
Displacement of lumbar intervertebral disc without myelopathy
Displacement of lumbar intervertebral disc without myelopathy (disorder)
Displacement of thoracic intervertebral disc without myelopathy (disorder)
displacement of the lumbar or lumbosacral intervertebral disc without myelopathy
displacement of thoracic intervertebral disc without myelopathy
displacement of thoracic or lumbar intervertebral disc without myelopathy
obsolete Cestoda infectious disease
A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract.
Cestode infection (disorder)
Cestode infection NOS (disorder)
Cestode infection, unspecified (disorder)
Cestode infestation
Infection by Taenia (disorder)
Taenia infestation
Taeniasis, unspecified
Taeniasis, unspecified (disorder)
Tapeworm infection NOS
Unspecified teniasis (disorder)
disease due to Cestoda
teniasis
scotoma
Blind spot area scotoma
Enlarged angioscotoma
Enlarged blind spot
Enlarged paracaecal scotoma
Generalized visual field contraction or constriction
Scotoma of blind spot area
Sector or arcuate visual field defects
bestiality
Zoophilia
urethral false passage
obsolete cheilopalatoschisis
Complete unilateral cleft palate with cleft lip (disorder)
Unilateral complete cleft palate with cleft lip
Unilateral complete cleft palate with cleft lip (disorder)
Unilateral incomplete cleft palate with cleft lip
Unilateral incomplete cleft palate with cleft lip (disorder)
cleft palate with cleft lip, unilateral, complete
cleft palate with cleft lip, unilateral, incomplete
incomplete unilateral cleft palate with cleft lip (disorder)
urethral diverticulum
Taylor's syndrome
Congestion-fibrosis syndrome
Taylor syndrome
pelvic congestion syndrome
carotid artery dissection
Dissection of carotid artery
obsolete congenital hip dislocation
Congen. disloc. hip
Congenital dislocation of hip
Congenital dislocation of hip NOS
Congenital dislocation of hip NOS (disorder)
Congenital dysplasia of the hip
Developmental dislocation of hip
Developmental dysplasia of the hip
obsolete hyperemesis gravidarum
fibular collateral ligament bursitis
obsolete enthesopathy of knee
status asthmaticus
An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.
Asthma with status asthmaticus
Severe asthma attack
orbital plasma cell granuloma
Pseudotumor of orbit
orbital myositis
obsolete DNA virus infectious disease
A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase.
doid/symp duplicate - reviewed 10/2022 & determined to be a symptom
obsolete exophthalmos
An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
proptosis
postural kyphosis
A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra.
Fuchs' heterochromic uveitis
A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface.
Fuch's Heterochromic iridocyclitis
Fuchs uveitis syndrome
Fuchs' heterochromic cyclitis
obsolete pigment dispersion syndrome of iris
Pigmentary iris degeneration
Pigmentary iris degeneration (disorder)
glaucomatocyclitic crisis
Posner-Schlossman syndrome
Terrien-Viel syndrome
obsolete glaucoma with ocular inflammation
Glaucoma associated with ocular inflammations
Glaucoma associated with ocular inflammations (disorder)
gonococcal iridocyclitis
obsolete gonococcal eye infectious disease
lens-induced iridocyclitis
infectious anterior uveitis
Infectious secondary iridocyclitis
secondary infected iridocyclitis
secondary iridocyclitis, infectious
tracheitis
A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
acute tracheitis
chronic tracheitis
croup
A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
Croup syndrome
Laryngotracheobronchitis
acute Obstructive Laryngitis
acute laryngotracheobronchitis
epiglottitis
An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
acute epiglottitis
acute epiglottitis and supraglottitis
epididymitis
obsolete isolated explosive disorder
obsolete pituitary dwarfism
Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)]
Lorain - Levi dwarfism
hypopituitary dwarfism
strictly posterior acute myocardial infarction
obsolete gonococcal endocarditis
Gonococcal endocarditis (disorder)
obsolete Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium
obsolete abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium
obsolete abscess of eyelid
abscess of eyelid (disorder)
obsolete tuberculous bronchiectasis
A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes.
hypertensive encephalopathy
chronic cholangitis
cervical Mullerian papilloma
A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity.
cervical Muellerian papilloma
obsolete cervix blue nevus
cervix squamous papilloma
A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium.
squamous papilloma of the Cervix Uteri
obsolete infectious disease of the breast and nipple associated with childbirth
isthmus cancer
dientamoebiasis
A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue.
intestinal trichomoniasis
exposure keratitis
Exposure keratoconjunctivitis
lagophthalmic keratitis
cholesteatoma of external ear
A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery.
external canal cholesteatoma
nail-patella syndrome
A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
Fong disease
Turner-Kiser syndrome
hereditary onychoostedysplasia
iliac horn syndrome
nail patella syndrome
obsolete Salmonella meningitis
Sheehan syndrome
Postpartum Hypopituitarism
Sheehan's syndrome
postpartum depression
An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.
Maternity blues
postnatal depression
ulcerative blepharitis
Meckel's diverticulum
A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum.
Meckel Diverticulum
Persistent vitelline duct
chronic dacryoadenitis
unilateral hypoactive labyrinth
hypereosinophilic syndrome
A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.
Eosinophilic leukocytosis
eosinophilia
disseminated eosinophilic collagen disease
chronic eosinophilic pneumonia
An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease.
Cryptogenic pulmonary eosinophilia
Loeffler syndrome
An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection.
Loeffler's pneumonia
Loffler's syndrome
benign mammary dysplasia
A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue.
cannabis abuse
A substance abuse that involves the recurring use of cannabis despite negative consequences.
marijuana abuse
acute ethmoiditis
A ethmoid sinusitis which lasts for less than 4 weeks.
acute ethmoid sinusitis
acute ethmoidal sinusitis
ethmoidal sinus - acute
obsolete toxic myopathy
Toxic muscle disease
simple chronic conjunctivitis
plasma cell leukemia
A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.
plasma cell leukaemia
plasmacytic leukaemia
plasmacytic leukemia
obsolete multiple myeloma and immunoproliferative neoplasm
obsolete abortion complicated by renal failure
acute dacryoadenitis
Laron syndrome
A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
Laron-type isolated somatotropin defect
obsolete acute renal failure with lesion of renal medullary necrosis
obsolete Rhesus isoimmunisation affecting management of mother
latent syphilis
A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.
tuberculous pneumothorax
A pneumothorax in which air enters into the pleural cavity.
obsolete Arenavirus hemorrhagic fever
A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.
american hemorrhagic fever
arenaviral hemorrhagic fever
Lassa fever
A viral infectious disease that results_in infection, has_material_basis_in Lassa virus (Mammarenavirus lassaense), which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.
multiple myeloma
A myeloid neoplasm that is located_in the plasma cells in bone marrow.
myeloma
vascular skin disease
osteosclerotic myeloma
obsolete plasma cell myeloma PTLD
refractory plasma cell neoplasm
obsolete recurrent plasma cell neoplasm
non-secretory myeloma
Duplicate disease (UMLS).
obsolete benign neurilemmoma
indolent plasma cell myeloma
A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm.
indolent myeloma
smoldering myeloma
A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody.
obsolete adrenal gland hypofunction
dextrocardia
Heart predominantly in right hemithorax
choanal atresia
Atresia of nares
Imperforate nares
posterior choanal atresia
neonatal candidiasis
A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates.
Neonatal monilia infection
neonatal candida infection
neonatal moniliasis
obsolete Pseudomonas septicemia
Venezuelan equine encephalitis
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus (Alphavirus venezuelan), which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region.
Venezuelan equine fever
obsolete equine encephalitis
An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise.
urethral calculus
urethral Stone
esophagus squamous cell papilloma
obsolete ovarian metastasis
metastasis to ovary
Krukenberg carcinoma
An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue.
Krukenberg neoplasm
Krukenberg tumor
proliferative fasciitis
staphyloenterotoxemia
A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness.
Staphylococcal food poisoning
Staphylococcal toxaemia due to food
staphyloenterotoxicosis
esophagus leiomyoma
plantar fasciitis
ischemic fasciitis
Atypical Decubital Fibroplasia
necrotizing fasciitis
intravascular fasciitis
Intravascular Pseudosarcomatous Fasciitis
neurofibroma of the esophagus
orthostatic proteinuria
Postural albuminuria
vesicoureteral reflux
A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
vesico-ureteral reflux
non-congenital cyst of kidney
kidney hypertrophy
obsolete genetic anomaly of leucocyte
Pelger-Huet anomaly
A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.
sarcocystosis
A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy.
Sarcosporidiosis
obsolete rheumatic chorea
Sydenham's chorea
chorea minor
babesiosis
A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
Babesiasis
Infection by babesia
piroplasmosis
obsolete obstructed labor
systolic heart failure
obsolete Pre-eclampsia or eclampsia superimposed on pre-existing hypertension
obsolete hypertension complicating pregnancy, childbirth and the puerperium
oral mucosa leukoplakia
A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.
aphthous stomatitis
A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
Aphtha
Aphthous ulceration
Canker sore
Oral aphthae
oral ulcer
Oral aphthous ulcer
noma
Cancrum oris
Gangrenous stomatitis
ulcerative stomatitis
obsolete cervical incompetence complicating pregnancy, childbirth, or the puerperium
cervical incompetence
A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.
yellow fever
A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus (Orthoflavivirus flavi), which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
Sylvatic yellow fever
Yellow fever, sylvan
jungle yellow fever
urban yellow fever
toxic myocarditis
An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation.
gonococcal keratitis
gonococcal endophthalmia
ophthalmia neonatorum
A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge.
Gonococcal conjunctivitis
Gonococcal ophthalmia neonatorum
Neonatal conjunctivitis
bacterial conjunctivitis
Purulent conjunctivitis
rosacea conjunctivitis
occlusion of gallbladder
Obstruction of gallbladder
hydrops of gallbladder
obsolete meningococcal myocarditis
neovascular inflammatory vitreoretinopathy
A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.
ADNIV
Retinitis proliferans
autosomal dominant neovascular inflammatory vitreoretinopathy
proliferative vitreoretinopathy
obsolete malignant neoplasm of cerebrum except lobes and ventricles
ophthalmia nodosa
vitreous abscess
A vitreous disease that is characterized by an abscess located_in the vitreous of the eye.
vitreous detachment
obsolete vitreous membranes and strands
obsolete crystalline deposits in vitreous
renal tuberculosis
An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
Tuberculosis of kidney
obsolete urinary tuberculosis
acute allergic mucoid otitis media
A blue drum syndrome caused by an allergen.
blue drum syndrome
A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.
acute mucoid otitis media
postcholecystectomy syndrome
A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy.
perianal hematoma
External thrombosed haemorrhoids
Thrombosed external hemorrhoids
hemorrhoid
A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum.
hemorrhoidal disease
internal hemorrhoid
A hemorrhoid that is located_in the rectum.
obsolete popliteal cyst
Baker's Cyst
obsolete rupture of synovium
ganglion or cyst of synovium/tendon/bursa
obsolete arthropathy associated with dermatological disorder
obsolete perinatal cyanotic attack
Cyanotic attacks of newborn
obsolete biliary calculus with cholecystitis
calculus of gallbladder with cholecystitis (disorder)
cholecystitis with Cholelithiasis
emphysematous cholecystitis
A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall.
Gaseous pericholecystitis
xanthogranulomatous cholecystitis
A cholecystitis characterized by nodules containing lipid-laden macrophages.
myocardial stunning
obsolete Retracted nipple associated with childbirth
transient neonatal thrombocytopenia
obsolete hematological disease of fetus and newborn
female breast upper-outer quadrant cancer
A female breast cancer that is located_in the upper-outer quadrant of the breast.
diastolic heart failure
Senile atrophy of choroid
choroidal sclerosis
Choroidal degenerations
irritable bowel syndrome
An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
IBD
Irritable colon
Psychogenic IBS
bowel dysfunction
trichinosis
A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur.
Trichinella spiralis infection
bulbar polio
A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing.
bulbar poliomyelitis
obsolete Foreign body granuloma of muscle
myositis fibrosa
Interstitial myositis
angioid streaks of choroid
toxocariasis
A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.
Infection by Toxascaris
Toxocara infection
visceral larva migrans
hereditary choroidal atrophy
obsolete tuberculous meningitis
meningeal tuberculosis
tuberculoma of meninges
obsolete staphylococcal infectious disease
tuberculous peritonitis
A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation.
obsolete pneumococcal peritonitis
A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome.
obsolete pneumococcal infectious disease
diffuse secondary choroid atrophy
polyarteritis nodosa
A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.
partial circumpapillary choroid dystrophy
obsolete Recent retinal detachment, total or subtotal
obsolete partial recent retinal detachment with giant tear
obsolete retinal defect
obsolete delimited old retinal detachment
obsolete disorganized type schizophrenia subchronic state with acute exacerbation
central gyrate choroidal dystrophy
Choroidal dystrophy, serpiginous
partial central choroid dystrophy
Choroidal dystrophy, central areolar
choroideremia
progressive Choroidal Atrophy
obsolete Partial recent retinal detachment with retinal dialysis
obsolete total or subtotal old retinal detachment
radioulnar synostosis
neonatal abstinence syndrome
A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.
Drug withdrawal syndrome in newborn
obsolete drug abstinence syndrome or symptom
obsolete refraction or accommodation disorder
hypertropia
cyclotropia
accommodative esotropia
obsolete temporomandibular joint disorder
Costen's syndrome
Myofascial pain - dysfunction syndrome of TMJ
TMJ SYNDROME
TMJ-pain-dysfunction syndrome
temporomandibular dysfunction syndrome
temporomandibular joint dysfunction syndrome
hypotropia
total circumpapillary dystrophy of choroid
Circumpapillary dystrophy of choroid, total
monofixation syndrome
endolymphatic hydrops
labyrinthine hydrops
obsolete disorganized type schizophrenia subchronic state
lingual-facial-buccal dyskinesia
Oro-facial dyskinesia
obsolete syphilitic interstitial keratitis
miliary tuberculosis
An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
Disseminated tuberculosis
Tuberculosis miliaris disseminata
acute miliary tuberculosis
generalized tuberculosis
obsolete lactation disorder
toxic maculopathy
Toxic maculopathy of retina
intestinal disaccharidase deficiency
hereditary fructose intolerance syndrome
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.
Fructosaemia
Fructose-1,6-bisphosphate aldolase B deficiency
Fructosemia
urethral gland abscess
obsolete Excessive vomiting starting after 22 completed weeks of gestation
antepartum late vomiting of pregnancy
mitral valve prolapse
A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
Barlow's syndrome
floppy mitral valve
mitral leaflet syndrome
myxomatous mitral valve prolapse
systolic click-murmur syndrome
cardiovascular syphilis
A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.
Becker muscular dystrophy
A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.
Benign pseudohypertrophic muscular dystrophy
benign congenital myopathy
alternating esotropia
obsolete alternating esotropia with A pattern
obsolete intermittent alternating esotropia
obsolete alternating esotropia with V pattern
median arcuate ligament syndrome
Celiac artery compression syndrome
Harjola-Marable syndrome
Marable's syndrome
periodontosis
villonodular synovitis
obsolete glaucoma associated with tumors or cysts
congenital heart block
An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.
obsolete protracted reactive paranoid psychosis
Psychogenic paranoid psychosis
meibomian cyst
A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid.
Chalazion
meibomian gland lipogranuloma
follicular mucinosis
Alopecia mucinosa
internal hordeolum
hordeolum
An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
Boil of eyelid
Furuncle of eyelid
Hordeolum externum
Stye
central corneal ulcer
A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms.
infected hydrocele
hydrocele
obsolete axillary metastasis
metastatic malignant tumor to the Axilla
obsolete malignant neoplasm of ribs, sternum and clavicle
Ca ribs/sternum/clavicle
obsolete secondary malignant neoplasm to the chest wall
obsolete malignant neoplasm of thoracic esophagus
Omsk hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus (Orthoflavivirus omskense), which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum.
developmental coordination disorder
A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.
obsolete hyperostosis frontalis interna
obsolete meningococcal meningitis
obsolete Flavivirus infectious disease
A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses.
obsolete primary Neisseriaceae infectious disease
Waterhouse-Friderichsen syndrome
An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
Meningococcal hemorrhagic adrenalitis
chronic inflammation of lacrimal passage
A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose.
chronic canaliculitis
chronic dacryocystitis
dacryocystocele
lacrimal mucocele
obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium
obsolete syphilitic episcleritis
constant exophthalmos
steroid-induced glaucoma
A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use.
Corticosteroid-induced glaucoma
residual stage corticosteroid-induced glaucoma
null-cell leukemia
Null cell acute lymphoblastic leukaemia
Null cell acute lymphoblastic leukemia
null-cell leukaemia
hypoplastic left heart syndrome
A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
hemometra
A uterine disease that is characterized by the presence of blood in the uterine cavity.
Hematometra
carotenemia
An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood.
hypercarotinemia
uterine inversion
A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth.
hypervitaminosis D
An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D.
hypervitaminosis A
An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism.
cocaine dependence
A drug dependence that is a psychological dependency on the regular use of cocaine.
heroin dependence
An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
acute female pelvic peritonitis
eosinophilia-myalgia syndrome
A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration.
Eosinophilia myalgia syndrome
orbit lymphoma
An orbital cancer that has_material_basis_in some lymphocyte.
Lymphoma of the orbit
obsolete metastasis to the orbit
metastatic tumor to the orbit
secondary malignant neoplasm of orbit (disorder)
obsolete endocrine and metabolic disturbances specific to the fetus and newborn
peripartum cardiomyopathy
A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.
antepartum peripartum cardiomyopathy
postpartum peripartum cardiomyopathy
The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
label
A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers.
A type of curator inference from encyclopedia where the reference is to a Wikipedia article.
curator inference from journal publication
A type of curator inference from published work reporting on research findings.
A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI.
has allergic trigger
shrimp food product
A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.
chemical driver
A disease driver that is a chemical.
Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O.
A diisocyanate consisting of diphenylmethane with two isocyanate groups at the 4- and 4'-positions.
A cyclic dicarboxylic anhydride that is the cyclic anhydride of hexahydrophthalic acid.
A cobalt group element atom that has atomic number 27.
A heavy metal that is chromium, a chromium group element atom that has atomic number 24.
has role
Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.
A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.
An aldehyde resulting from the formal oxidation of methanol.
neuron projection bundle connecting eye with brain
Onset of disease at the age of between 16 and 40 years.
A pain that is characterized by occurring in the lower back.
A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject.
A pain that is characterized by a pain situated, or occurring, in or around a joint.
A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons.
A rash characterized by papule(s), which are a raised area of the skin and macule(s), which are a flat red area of the skin.
curator inference from MedlinePlus dictionary
A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary.
tick borne transmission
Tick borne transmission is an arachnid borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary tick vector to another host.
A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface.
A pain that is characterized by a pain in the head.
A neurological and physiological symptom that is characterized by a weariness or exhaustion from labor, exertion, or stress.
vehicle-borne ingestion transmission
Vehicle-borne ingestion transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by ingestion of fluids or foods or food products including: food, water, milk, or meat products.
A skin and integumentary tissue symptom that is characterized by a scab formed especially after a burn.
Rickettsia conorii subsp. heilongjiangensis
A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin.
A rash characterized by papule(s), which are a raised area of the skin.
An alteration of appetite that is characterized by a loss of desire to eat, i.e. no desire to eat.
doid/symp duplicate - reviewed 10/2022, both DO & SYMP
Diarrhea is a feces and droppng symptom involving the abnormally frequent intestinal evacuations with more or less fluid stools.
Vomiting is a digestive system symptom characterized by throwing up the stomach contents.
A vomiting where there is vomiting of blood.
contact transmission
Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen.
A cardiovascular system symptom that is characterized by an acute loss of blood from a damaged blood vessel.
curator inference from MedlinePlus encyclopedia
A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia.
curator inference from Merriam-Webster Dictionary
A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary.
A nervous system symptom that is characterized by a complete or partial loss of function especially when involving the power of motion or of sensation in any part of the body.
An alteration of consciousness that is characterized by a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions.
A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels.
A nose symptom that involves a is loss of blood from the tissue lining the nose.
A cardiovascular system symptom that is characterized as a state of profound depression of the vital processes of the body that is characterized by pallor, rapid but weak pulse, rapid and shallow respiration, reduced total blood volume, and low blood pressure and that is caused usually by severe especially crushing injuries, hemorrhage, burns, or major surgery.
Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone.
A respiratory system and chest symptom that is characterized by an excessive accumulation especially of blood or mucus.
A respiratory system and chest symptom that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance.
Constipation is a feces and droppings symptom involving the abnormally delayed or infrequent passage of dry hardened feces. Constipation may be categorized into three subtypes: normal-transit, slow-transit, and pelvic floor dysfunction.
A sensation perception that is characterized by an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body.
droplet spread transmission
Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking.
A respiratory abnormality that is characterized by an increased rate of respiration and shallow breathing.
Abnormal pulmonary interstitial morphology
Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue.
A weight symptom that is characterized by a reduction of the total body mass, by a mean loss of fluid, body fat (adipose tissue), or lean mass (namely bone mineral deposits, muscle, tendon, and other connective tissue). Weight loss can either occur unintentionally because of malnourishment or an underlying disease.
A fatigue that is characterized by a feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue.
A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit).
A respiratory abnormality that is characterized by difficult or labored respiration.
A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders.
A balance symptom that is characterized by a disturbance of consciousness characterized by inability to engage in orderly thought or by lack of power to distinguish, choose, or act decisively.
A fatigue that is characterized by abnormal drowsiness.
A neurological and physiological symptom that is characterized by a feeling of being more sleepy than normal during the day. People who are drowsy may fall asleep in when they do not want to or at times which can lead to safety concerns.
Tremor is a generial symptom characterized by a trembling or shaking usually from physical weakness, emotional stress, or disease.
allergic reaction
An immune system symptom that is characterized by sensitivities to substances called allergens.
A confusion that is characterized by an usually transient state of confusion especially as to time, place, or identity; often as a result of disease or drugs.
A neurological and physiological symptom that is characterized by any condition which is significantly different from a normal waking state.
A balance symptom that is characterized by a sensation of unsteadiness accompanied by a feeling of movement within the head.
A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness.
A respiratory system and chest symptom that is characterized by bleeding (hemorrhage) in either or both the bronchi and the lungs.
A digestive system symptom characterized by bleeding from one or more of the areas of the digestive or gastrointestinal (GI) tract that includes the espophagus, stomach, small intestine, large intestine or colon, rectum and anus.
A feces and droppings symptom that is characterized by the passage of dark tarry stools containing decomposing blood that is usually an indication of bleeding in the upper part of the alimentary canal and especially the esophagus, stomach, and duodenum.
Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit.
A nutrition, metabolism, and development symptom that is characterized by a loss of appetite especially when prolonged.
A nervous system symptom that is characterized by an abnormal violent and involuntary contraction or series of contractions of the muscles.
A reproductive system symptom that is characterized an abnormally profuse menstrual flow.
A pain that is characterized by a pain in one or more muscles.
A skin and integumentary tissue symptom that is characterized by a markedly red flush in a persons face and often other areas of the skin, from various physiological conditions. Flushing is generally distinguished, despite a close physiological relation between them, from blushing, which is milder, generally restricted to the face or cheeks, and generally assumed to reflect embarrassment. Flushing is also a cardinal symptom of carcinoid syndrome the syndrome that results from hormones (often serotonin or histamine) being secreted into systemic circulation.
A urinary system symptom that is characterized by a loss of excretory function in one or both kidneys, leading to retention of nitrogenous waste products from the blood.
A skin and integumentary tissue symptom that is characterized by a yellowish pigmentation of the skin, tissues, and certain body fluids is caused by the deposition of bile pigments that follows interference with normal production and discharge of bile (as in certain liver diseases) or excessive breakdown of red blood cells (as after internal hemorrhage or in various hemolytic states).
A nose symptom that is characterized by an excessive secretion of mucous through the nose.
A neurological and physiological symptom that is characterized by a mental disturbance characterized by confusion, disordered speech, and hallucinations.
A nervous system symptom that is characterized by a host of presentations that include changes in cognition, mood, behavior, and/or level of arousal.
An alteration of appetite that is characterized by a reduced desire to eat.
A skin and integumentary tissue symptom that is characterized by an abnormal change in structure of the skin that is especially circumscribed and well defined due to injury or disease.
A skin and integumentary tissue symptom that is characterized by an uneasy irritating sensation in the upper surface of the skin usually held to result from mild stimulation of pain receptors.
A fever that is characterized by body temperature periodically rising and falling.
vehicle-borne fomite transmission
Vehicle-borne fomite transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate objects including: medical instruments, cloth, fur, metal or plastic utensils.
Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease).
Abnormality of prenatal development or birth
A neurological and physiological symptom that is characterized by a difficulty in articulating words due to disease of the central nervous system.
descending muscle paralysis
A paralysis that is characterized by a loss of motor function in one or more muscles, which can also be accompanied by a loss of feeling (sensory loss). Descending paralysis contrasts with ascending paralysis in that descending paralysis presents in the upper limbs before the lower limbs. Descending paralysis occurs in conditions such as botulism.
Ptosis is a general symptom characterized by a sagging or prolapse of an organ or part.
autosomal inheritance
susceptibility to restless legs syndrome 1
susceptibility to restless legs syndrome 2
susceptibility to restless legs syndrome 3
susceptibility to restless legs syndrome 4
susceptibility to restless legs syndrome 6
susceptibility to restless legs syndrome 5
susceptibility to restless legs syndrome 7
susceptibility to restless legs syndrome 8
susceptibility to X-linked asperger syndrome 1
susceptibility to X-linked asperger syndrome 2
Hallucination is a general symptom where there is a perception of something (as a visual image or a sound) with no external cause usually arising from a disorder of the nervous system (as in delirium tremens or in functional psychosis without known neurological disease) or in response to drugs (as LSD).
Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force.
vector-borne transmission
Vector-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary vector to another host. Most vectors are arthropods such as mosquitoes, fleas, and ticks.
A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease.
X-linked recessive inheritance
insect borne transmission
Insect borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary insect vector such as a flea or mosquito to another host.
An alteration of consciousness that is characterized by a lack of critical mental function and a level of consciousness, in which an affected person is almost entirely unresponsive and responds only to intense stimuli such as pain.
A fever that is characterized by an elevated temperature.
flea borne transmission
Flea borne transmission is an insect borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary flea vector to another host.
placental transmission
Placental transmission is a congenital transmission process during which the pathogen is transmitted directly from mother to child across the placental barrier.
A lack of expected normal physiological development in childhood that is characterized by a decelerated or arrested physical growth (height and weight measurements fall below the third or fifth percentile, or a downward change in growth across two major growth percentiles) and is associated with abnormal growth and development.
A nervous system symptom that is characterized by an inflammation of the meninges and especially of the pia mater and the arachnoid.
Insomnia is a sleep disturbance characterized by prolonged and usually abnormal inability to obtain adequate sleep.
A behavioral symptom that is characterized by a quick excitability to annoyance, impatience, or anger.
An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs.
A urinary system symptom that is characterized by the an inability of the body to control the evacuative functions.
A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both. Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time.
A neurological and physiological symptom that is characterized by a diminished or reduced ability to remember things such as dates and names, and increased forgetfulness.
A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air.
A paralysis that is charicterized by a lack of muscle tone in the affected muscles and in which tendon reflexes are decreased or absent.
A urinary system symptom characterized by the presence of excess protein in the urine.
A skin and integumentary tissue symptom that is characterized by a minute reddish or purplish spot containing blood that appears in skin or mucous membrane as a result of localized hemorrhage.
vehicle-borne medical transmission
Vehicle-borne medical transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by biological products including: blood, serum, plasma, tissue, or organs.
Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
Onset of disease at the age of between 1 and 5 years.
digenic inheritance
Onset of signs or symptoms of disease between 28 days to one year of life.
X-linked inheritance
has phenotype
hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools.
A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more.
A cardiac fibrillation consisting of a very rapid uncoordinated contractions of the atria of the heart resulting in a lack of synchronism between heartbeat and pulse beat.
susceptibility to atrioventricular septal defect 2
A neurological and physiological symptom that is characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders.
Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.
A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom.
derives from
A feeding difficulties and mismanagement that is characterized by an infant with little interest in feeding and it can also refer to an infant who is not feeding enough to receive the necessary nutrition required for adequate growth.
Abnormal circulating vitamin B12 concentration
Y-linked inheritance
susceptibility to nonarteritic anterior ischemic optic neuropathy
An olefinic compound that is trans-hex-3-ene in which the hydrogens at positions 3 and 4 have been replaced by p-hydroxyphenyl groups.
Onset of signs or symptoms of disease within the first 28 days of life.
repetitive behavior
A behavioral symptom that is characterized by an unusual repetitive motor movements or manipulation of objects.
A paralysis that is characterized by a weakness or the inability to move on one side of the body.
A lack of expected normal physiological development in childhood that is characterized by an individual's height being in the 3rd percentile for the mean height of a given age, sex, and population group.
Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease.
A balance symptom that is characterized by a condition of being dizzy or on the verge of fainting, particularly when one arises to a standing position. Lightheadedness is a predictable consequence of any medication tending to lower blood pressure.
Abnormal curvature of the vertebral column
skin peeling
A skin and integumentary tissue symptom that is characterized by a small solid usually conical elevation of the skin caused by inflammation, accumulated secretion, or hypertrophy of tissue elements.
chromosomal deletion inheritance
chicken egg food product
shellfish food product
plant fruit food product
apple food product
apricot food product
cherry food product
orange food product
melon food product
peach food product
plum fruit food product
tomato food product
fish food product
atlantic salmon and trout food product
carp food product
rainbow trout food product
mollusc food product
crustacean food product
snail food product
A tachycardia that is associated with the generation of improper electrical impulses within the ventricles, characterized by an electrocardiogram showing a rate of greater than 120 BPM and three or more wide QRS complexes in a row.
legume food product
Tachycardia is a cardiovascular system symptom consisting of a relatively rapid heart action whether physiological (as after exercise) or pathological.
Abnormality of gait is a nervous system and musculoskeletal system symptom characterized by a difficulty in the manner of walking or moving on foot.
vegetable food product
leaf celery food product
A phenotypic abnormality that is present at birth.
delayed psychomotor development
A nutrition, metabolism, and development symptom that is characterized by the delay in development child's cognitive, emotional, motor, and social capacities from the beginning of life throughout fetal and neonatal periods, infancy, childhood, and adolescence.
A urinary system symptom that is characterized by a strong and immediate need to urinate due to an increase in pressure in the bladder, resulting in difficulty to hold in the urine. This can occur regardless of whether the bladder is full.
Onset of signs or symptoms of disease between the age of 5 and 15 years.
Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).
Elevated circulating desmosterol concentration
Disproportionate short-limb short stature
Bloating is a digestive system symptom involving the accumulation of gas in the digestive tract and resulting in abdominal distension.
Disproportionate short-trunk short stature
An ear symptom - need proper definition - placeholder for xref.
An abdominal symptom consisting of an abnormal accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen.
A skin and integumentary tissue symptom that is characterized by an abnormal excess accumulation of serous fluid in connective tissue or in a serous cavity.
feeding problem
A feeding difficulties and mismanagement that is characterized by delays and/or disorders in the development of eating and drinking skills including disordered placement of food in the mouth, difficulty in appropriately manipulating food when it is in the mouth, difficulty chewing, and/or difficulty swallowing.
Aplasia/Hypoplasia of the cerebellar vermis
polygenic inheritance
mitochondrial inheritance
Severe acute respiratory syndrome coronavirus 2
airborne transmission
Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust.
Abnormal circulating immunoglobulin concentration
susceptibility to acute erythroid leukemia
An abnormal chest sound that is characterized by a harsh vibrating sound heard during respiration in cases of obstruction of the air passages.
A skin and integumentary tissue symptom that is characterized by a fluid-filled elevation of the epidermis.
A disturbances of sensation of smell and taste that is characterized by a complete loss of taste function of the tongue.
A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder.
A pain that is characterized by an unpleasant sensation localized in the neck that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual.
A urinary system symptom that is characterized by the excessive secretion of urine.
A type of adult onset with onset of symptoms at the age of 40 to 60 years.
Pericardial effusion is a cardiovascular system symptom where there is an abnormal accumulation of fluid in the pericardial cavity.