Human Disease Ontology
type: Ontology
comment: 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/).
has_ontology_root_term: disease
description: 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.
language: en
license: https://creativecommons.org/publicdomain/zero/1.0/
date: 30:05:2026 07:59
default-namespace: disease_ontology
has_obo_format_version: 1.2
saved-by: lschriml
imports: ext.owl
version IRI: doid.owl
owl:versionInfo: 2026-05-30

has_ontology_root_term
type: AnnotationProperty
definition: Has ontology root term.
label: has ontology root term

disease
type: Class
definition: 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.
database_cross_reference: SNOMEDCT_US_2025_09_01:64572001
database_cross_reference: MESH:D004194
database_cross_reference: NCI:C2991
database_cross_reference: UMLS_CUI:C0012634
has_obo_namespace: disease_ontology
id: DOID:4
in_subset: DO_RAD_slim
in_subset: NCIthesaurus

description
type: AnnotationProperty
definition: Description.
definition: Description of the ontology.

title
type: AnnotationProperty
definition: Title.
definition: Title of the ontology.

license
type: AnnotationProperty
definition: License.
definition: License of the ontology.

date
type: AnnotationProperty
definition: Date.

default-namespace
type: AnnotationProperty
definition: Default namespace.

has_obo_format_version
type: AnnotationProperty
definition: Has OBO format version.

saved-by
type: AnnotationProperty
definition: Saved by.

comment
type: AnnotationProperty
definition: Comment.

owl:versionInfo
definition: Version info.

definition
type: AnnotationProperty
definition: The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
definition: The official definition.

label
type: AnnotationProperty
definition: A human readable name for this class.

definition source
type: AnnotationProperty
definition: 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.

rdfs:isDefinedBy
definition: Is defined by.

Axiom
database_cross_reference: url:http://purl.obolibrary.org/obo/iao.owl
annotated property: definition
annotated source: definition source
annotated target: 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.

database_cross_reference
type: AnnotationProperty
definition: Reference database or publication source.

Axiom
database_cross_reference: url:http://purl.obolibrary.org/obo/IAO_0000700
annotated property: definition
annotated source: has_ontology_root_term
annotated target: Has ontology root term.

term replaced by
type: AnnotationProperty
definition: Use on obsolete terms, relating the term to another term that can be used as a substitute.

Axiom
database_cross_reference: url:https://www.ebi.ac.uk/ols/ontologies/iao/properties?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FIAO_0100001
annotated property: definition
annotated source: term replaced by
annotated target: Use on obsolete terms, relating the term to another term that can be used as a substitute.

acronym
type: AnnotationProperty
sub property of: synonym_type_property

synonym_type_property
type: AnnotationProperty

DO_AGR_slim
type: AnnotationProperty
comment: DO_AGR_slim
sub property of: subset_property

subset_property
type: AnnotationProperty
definition: Subset property, name of subet.

DO_CFDE_slim
type: AnnotationProperty
comment: DO_CFDE_slim
sub property of: subset_property

DO_FlyBase_slim
type: AnnotationProperty
comment: DO_FlyBase_slim
sub property of: subset_property

DO_GXD_slim
type: AnnotationProperty
comment: DO_GXD_slim
sub property of: subset_property

DO_IEDB_slim
type: AnnotationProperty
comment: DO_IEDB_slim
sub property of: subset_property

DO_MGI_slim
type: AnnotationProperty
comment: DO_MGI_slim
sub property of: subset_property

DO_RAD_slim
type: AnnotationProperty
comment: DO_RAD_slim
sub property of: subset_property

DO_cancer_slim
type: AnnotationProperty
comment: DO_cancer_slim
sub property of: subset_property

DO_childhood_cancer_slim
type: AnnotationProperty
comment: DO_childhood_cancer_slim
sub property of: subset_property

DO_infectious_disease_slim
type: AnnotationProperty
comment: DO_infectious_disease_slim
sub property of: subset_property

DO_rare_slim
type: AnnotationProperty
comment: DO_rare_slim
sub property of: subset_property

GOLD
type: AnnotationProperty
comment: GOLD
sub property of: subset_property

NCIthesaurus
type: AnnotationProperty
comment: NCIthesaurus
sub property of: subset_property

TopNodes_DOcancerslim
type: AnnotationProperty
comment: TopNodes_DOcancerslim
sub property of: subset_property

gram-negative_bacterial_infectious_disease
type: AnnotationProperty
comment: gram-negative_bacterial_infectious_disease
sub property of: subset_property

gram-positive_bacterial_infectious_disease
type: AnnotationProperty
comment: gram-positive_bacterial_infectious_disease
sub property of: subset_property

sexually_transmitted_infectious_disease
type: AnnotationProperty
comment: sexually_transmitted_infectious_disease
sub property of: subset_property

tick-borne_infectious_disease
type: AnnotationProperty
comment: tick-borne_infectious_disease
sub property of: subset_property

zoonotic_infectious_disease
type: AnnotationProperty
comment: zoonotic_infectious_disease
sub property of: subset_property

dc:date
type: AnnotationProperty

Axiom
database_cross_reference: url:http://purl.org/dc/elements/1.1/description
annotated property: definition
annotated source: description
annotated target: Description.

Axiom
database_cross_reference: url:http://purl.org/dc/elements/1.1/title
annotated property: definition
annotated source: title
annotated target: Title.

dc:type
type: AnnotationProperty
definition: The dc:type.

Axiom
database_cross_reference: url:http://purl.org/dc/elements/1.1/type
annotated property: definition
annotated source: dc:type
annotated target: The dc:type.

Axiom
database_cross_reference: url:http://purl.org/dc/terms/license
annotated property: definition
annotated source: license
annotated target: License.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#SubsetProperty
annotated property: definition
annotated source: subset_property
annotated target: Subset property, name of subet.

auto-generated-by
type: AnnotationProperty

consider
type: AnnotationProperty
definition: 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.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#consider
annotated property: definition
annotated source: consider
annotated target: 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.

creation_date
type: AnnotationProperty
definition: Date class was created.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#creation_date
annotated property: definition
annotated source: creation_date
annotated target: Date class was created.

Axiom
database_cross_reference: url:http://purl.org/dc/elements/1.1/date
annotated property: definition
annotated source: date
annotated target: Date.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#default-namespace
annotated property: definition
annotated source: default-namespace
annotated target: Default namespace.

has_alternative_id
type: AnnotationProperty
definition: ID of merged class.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasAlternativeId
annotated property: definition
annotated source: has_alternative_id
annotated target: ID of merged class.

has_broad_synonym
type: AnnotationProperty
definition: Broad synonym.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym
annotated property: definition
annotated source: has_broad_synonym
annotated target: Broad synonym.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasDbXref
annotated property: definition
annotated source: database_cross_reference
annotated target: Reference database or publication source.

has_exact_synonym
type: AnnotationProperty
definition: Exact synonym.
label: has exact synonym

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasExactSynonym
annotated property: definition
annotated source: has_exact_synonym
annotated target: Exact synonym.

has_narrow_synonym
type: AnnotationProperty
definition: Narrow synonym.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym
annotated property: definition
annotated source: has_narrow_synonym
annotated target: Narrow synonym.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion
annotated property: definition
annotated source: has_obo_format_version
annotated target: Has OBO format version.

has_obo_namespace
type: AnnotationProperty
comment: disease_ontology
definition: Name space of the ontology.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasOBONamespace
annotated property: definition
annotated source: has_obo_namespace
annotated target: Name space of the ontology.

has_related_synonym
type: AnnotationProperty
definition: Has related synonym.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym
annotated property: definition
annotated source: has_related_synonym
annotated target: Has related synonym.

has_synonym_type
type: AnnotationProperty

id
type: AnnotationProperty
definition: 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.
definition: An identifier for an individual entity.

Axiom
database_cross_reference: url:http://purl.obolibrary.org/obo/IAO_0020000
annotated property: definition
annotated source: id
annotated target: 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.

in_subset
type: AnnotationProperty
definition: In subset.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#inSubset
annotated property: definition
annotated source: in_subset
annotated target: In subset.

Axiom
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#saved-by
annotated property: definition
annotated source: saved-by
annotated target: Saved by.

Axiom
database_cross_reference: url:http://www.w3.org/2000/01/rdf-schema#comment
annotated property: definition
annotated source: comment
annotated target: Comment.

Axiom
database_cross_reference: url:http://www.w3.org/2000/01/rdf-schema#isDefinedBy
annotated property: definition
annotated source: rdfs:isDefinedBy
annotated target: Is defined by.

Axiom
database_cross_reference: url:http://www.w3.org/2000/01/rdf-schema#label
database_cross_reference: url:https://www.w3.org/TR/owl-guide/
annotated property: definition
annotated source: label
annotated target: A human readable name for this class.

owl:deprecated
type: AnnotationProperty
definition: OWL deprecated.

Axiom
database_cross_reference: url:http://www.w3.org/2002/07/owl#deprecated
annotated property: definition
annotated source: owl:deprecated
annotated target: OWL deprecated.

Axiom
database_cross_reference: url:http://www.w3.org/2002/07/owl#versionInfo
annotated property: definition
annotated source: owl:versionInfo
annotated target: Version info.

has broader match
type: AnnotationProperty
definition: 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).

Axiom
database_cross_reference: url:https://www.w3.org/2009/08/skos-reference/skos.html#broadMatch
annotated property: definition
annotated source: has broader match
annotated target: 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).

has close match
type: AnnotationProperty
definition: A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably.

Axiom
database_cross_reference: url:https://www.w3.org/2009/08/skos-reference/skos.html#closeMatch
annotated property: definition
annotated source: has close match
annotated target: A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably.

has exact match
type: AnnotationProperty
definition: A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably.

Axiom
database_cross_reference: url:https://www.w3.org/2009/08/skos-reference/skos.html#exactMatch
annotated property: definition
annotated source: has exact match
annotated target: A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably.

has narrower match
type: AnnotationProperty
definition: 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.

Axiom
database_cross_reference: url:https://www.w3.org/2009/08/skos-reference/skos.html#narrowMatch
annotated property: definition
annotated source: has narrower match
annotated target: 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.

has related match
type: AnnotationProperty
definition: A skos concept mapping used to state an associative mapping link between two concepts.

Axiom
database_cross_reference: https://www.w3.org/2009/08/skos-reference/skos.html#relatedMatch
annotated property: definition
annotated source: has related match
annotated target: A skos concept mapping used to state an associative mapping link between two concepts.

has material basis in
type: ObjectProperty
definition: Relating the disease to it’s causation (disease and disorder).

Axiom
database_cross_reference: url:http://purl.obolibrary.org/obo/IDO_0000664
annotated property: definition
annotated source: has material basis in
annotated target: Relating the disease to it’s causation (disease and disorder).

is_a
type: ObjectProperty
definition: Relation defining child to partent inheritance type.
has_obo_namespace: disease_ontology

Axiom
database_cross_reference: url:http://geneontology.org/docs/ontology-relations/
database_cross_reference: url:http://purl.obolibrary.org/obo/rex#is_a
annotated property: definition
annotated source: is_a
annotated target: Relation defining child to partent inheritance type.

angiosarcoma
type: Class
subclass of: vascular cancer
definition: A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
has_alternative_id: DOID:267
has_alternative_id: DOID:4508
database_cross_reference: ICDO:9120/3
database_cross_reference: MESH:D006394
database_cross_reference: NCI:C3088
database_cross_reference: NCI:C9275
database_cross_reference: SNOMEDCT_US_2025_09_01:39000009
database_cross_reference: UMLS_CUI:C0018923
database_cross_reference: UMLS_CUI:C0854893
has_exact_synonym: hemangiosarcoma
has_obo_namespace: disease_ontology
id: DOID:0001816
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

vascular cancer
type: Class
subclass of: vascular disease
subclass of: DOID 176
definition: A cardiovascular cancer that is located_in blood vessels.
has_alternative_id: DOID:3339
has_alternative_id: DOID:5454
has_alternative_id: DOID:5548
has_alternative_id: DOID:7019
has_alternative_id: DOID:7020
has_alternative_id: DOID:7392
database_cross_reference: MESH:D019043
database_cross_reference: NCI:C5348
database_cross_reference: NCI:C5380
database_cross_reference: NCI:C5383
database_cross_reference: NCI:C5388
database_cross_reference: NCI:C7390
database_cross_reference: SNOMEDCT_US_2025_09_01:126737003
database_cross_reference: SNOMEDCT_US_2025_09_01:93817006
database_cross_reference: UMLS_CUI:C0282607
database_cross_reference: UMLS_CUI:C0346845
database_cross_reference: UMLS_CUI:C1290407
database_cross_reference: UMLS_CUI:C1334616
database_cross_reference: UMLS_CUI:C1334617
database_cross_reference: UMLS_CUI:C1334630
database_cross_reference: UMLS_CUI:C1335753
has_exact_synonym: Blood vessel tumor
has_exact_synonym: Blood vessel tumors
has_exact_synonym: Blood vessel tumour disorder
has_exact_synonym: Haemangiomatous tumour
has_exact_synonym: blood vessel neoplasm
has_exact_synonym: leiomyosarcoma of the renal Vein
has_exact_synonym: malignant great vessel tumor
has_exact_synonym: malignant tumor of pulmonary Vein
has_exact_synonym: malignant tumor of pulmonary artery
has_exact_synonym: malignant vascular neoplasm
has_exact_synonym: malignant vascular tumor
has_exact_synonym: neoplasm of great vessel
has_exact_synonym: pulmonary artery malignant neoplasm
has_exact_synonym: pulmonary vein malignant neoplasm
has_exact_synonym: renal vein leiomyosarcoma
has_exact_synonym: vascular tissue neoplasm
has_exact_synonym: vascular tumors
has_obo_namespace: disease_ontology
id: DOID:175
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0007798

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Hemangiosarcoma
database_cross_reference: url:https://en.wikipedia.org/wiki/Angiosarcoma
database_cross_reference: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23327728
annotated property: definition
annotated source: angiosarcoma
annotated target: A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.

pterygium
type: Class
subclass of: corneal disease
definition: 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.
creation_date: 2010-06-30T02:44:30Z
database_cross_reference: UMLS_CUI:C0033999
has_exact_synonym: surfer's eye
has_obo_namespace: disease_ontology
id: DOID:0002116

corneal disease
type: Class
subclass of: eye disease
definition: An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
has_alternative_id: DOID:2284
database_cross_reference: ICD10CM:H18.9
database_cross_reference: ICD9CM:371.9
database_cross_reference: MESH:D003316
database_cross_reference: NCI:C26731
database_cross_reference: SNOMEDCT_US_2025_09_01:15250008
database_cross_reference: UMLS_CUI:C0010034
has_obo_namespace: disease_ontology
id: DOID:10124
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000964

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Pterygium_(conjunctiva)
annotated property: definition
annotated source: pterygium
annotated target: 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.

disease of metabolism
type: Class
subclass of: disease
definition: A disease that involves errors in metabolic processes of building or degradation of molecules.
database_cross_reference: ICD10CM:E88.9
database_cross_reference: ICD9CM:277.9
database_cross_reference: MESH:D008659
database_cross_reference: NCI:C3235
database_cross_reference: SNOMEDCT_US_2025_09_01:75934005
database_cross_reference: UMLS_CUI:C0025517
has_exact_synonym: metabolic disease
has_obo_namespace: disease_ontology
id: DOID:0014667
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK22259/
annotated property: definition
annotated source: disease of metabolism
annotated target: A disease that involves errors in metabolic processes of building or degradation of molecules.

shrimp allergy
type: Class
subclass of: crustacean allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002239
definition: A crustacean allergy that has_allergic_trigger shrimp.
has_obo_namespace: disease_ontology
id: DOID:0040001
in_subset: DO_IEDB_slim

crustacean allergy
type: Class
subclass of: DOID_0060495
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001792
definition: A shellfish allergy triggered by Crustacea.
has_obo_namespace: disease_ontology
id: DOID:0060524
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20471069
annotated property: definition
annotated source: shrimp allergy
annotated target: A crustacean allergy that has_allergic_trigger shrimp.

aspirin allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_15365
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_15365
definition: A drug allergy that has_allergic_trigger acetylsalicylic acid.
database_cross_reference: SNOMEDCT_US_2025_09_01:293586001
database_cross_reference: UMLS_CUI:C0004058
has_exact_synonym: ASA allergy
has_exact_synonym: acetylsalicylic acid allergy
has_obo_namespace: disease_ontology
id: DOID:0040002
in_subset: DO_IEDB_slim

drug allergy
type: Class
subclass of: allergic disease
definition: An allergic disease that is triggered by a drug.
has_obo_namespace: disease_ontology
id: DOID:0060500
in_subset: DO_IEDB_slim
equivalent class: Class
  intersection of: allergic disease
  intersection of: Restriction
    on property: RO_0001022
    some values from: Class
      intersection of: CHEBI_24431
      intersection of: Restriction
        on property: RO_0000087
        some values from: CHEBI_23888

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2468301
annotated property: definition
annotated source: aspirin allergy
annotated target: A drug allergy that has_allergic_trigger acetylsalicylic acid.

benzylpenicillin allergy
type: Class
subclass of: beta-lactam allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_18208
definition: A beta-lactam allergy that has_allergic_trigger benzylpenicillin.
database_cross_reference: SNOMEDCT_US_2025_09_01:294499007
database_cross_reference: UMLS_CUI:C0571411
has_exact_synonym: benzyl penicillin allergy
has_exact_synonym: penicillin G allergy
has_obo_namespace: disease_ontology
id: DOID:0040003
in_subset: DO_IEDB_slim

beta-lactam allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_35627
definition: A drug allergy triggered by a beta-lactam.
has_obo_namespace: disease_ontology
id: DOID:0060519
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14483916
annotated property: definition
annotated source: benzylpenicillin allergy
annotated target: A beta-lactam allergy that has_allergic_trigger benzylpenicillin.

amoxicillin allergy
type: Class
subclass of: beta-lactam allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 2676
definition: A beta-lactam allergy that has_allergic_trigger amoxicillin.
database_cross_reference: SNOMEDCT_US_2025_09_01:294505008
database_cross_reference: UMLS_CUI:C0571417
has_obo_namespace: disease_ontology
id: DOID:0040004
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11746950
annotated property: definition
annotated source: amoxicillin allergy
annotated target: A beta-lactam allergy that has_allergic_trigger amoxicillin.

ceftriaxone allergy
type: Class
subclass of: cephalosporin allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_29007
definition: A cephalosporin allergy that has_allergic_trigger ceftriaxone.
database_cross_reference: SNOMEDCT_US_2025_09_01:294551009
database_cross_reference: UMLS_CUI:C0571463
has_exact_synonym: rocephin allergy
has_obo_namespace: disease_ontology
id: DOID:0040005
in_subset: DO_IEDB_slim

cephalosporin allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_23066
definition: A drug allergy that has_allergic_trigger cephalosporin.
database_cross_reference: SNOMEDCT_US_2025_09_01:294532003
database_cross_reference: UMLS_CUI:C0571444
has_obo_namespace: disease_ontology
id: DOID:0040021
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12833570
annotated property: definition
annotated source: ceftriaxone allergy
annotated target: A cephalosporin allergy that has_allergic_trigger ceftriaxone.

carbamazepine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 3387
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI 3387
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: A drug allergy that has_allergic_trigger carbamazepine.
database_cross_reference: SNOMEDCT_US_2025_09_01:293867002
database_cross_reference: UMLS_CUI:C0570787
has_exact_synonym: Tegretol allergy
has_exact_synonym: carbamazepen allergy
has_obo_namespace: disease_ontology
id: DOID:0040006
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7602118
annotated property: definition
annotated source: carbamazepine allergy
annotated target: A drug allergy that has_allergic_trigger carbamazepine.

abacavir allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_421707
definition: A drug allergy that has_allergic_trigger abacavir.
has_exact_synonym: ABC allergy
has_obo_namespace: disease_ontology
id: DOID:0040007
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25674793
annotated property: definition
annotated source: abacavir allergy
annotated target: A drug allergy that has_allergic_trigger abacavir.

isoniazide allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 6030
definition: A drug allergy that has_allergic_trigger isoniazide.
database_cross_reference: ICD10CM:Z88.1
has_exact_synonym: INH allergy
has_exact_synonym: isonicotinylhydrazide allergy
has_obo_namespace: disease_ontology
id: DOID:0040008
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
annotated property: definition
annotated source: isoniazide allergy
annotated target: A drug allergy that has_allergic_trigger isoniazide.

lidocaine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 6456
definition: A drug allergy that has_allergic_trigger lidocaine.
database_cross_reference: SNOMEDCT_US_2025_09_01:293722000
database_cross_reference: UMLS_CUI:C0570646
has_exact_synonym: Lidoderm allergy
has_exact_synonym: lignocaine allergy
has_exact_synonym: xylocaine allergy
has_obo_namespace: disease_ontology
id: DOID:0040009
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9013953
annotated property: definition
annotated source: lidocaine allergy
annotated target: A drug allergy that has_allergic_trigger lidocaine.

mepivacaine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 6759
definition: A drug allergy that has_allergic_trigger mepivacaine.
database_cross_reference: ICD10CM:Z88.4
has_exact_synonym: Carbocaine allergy
has_exact_synonym: Polocaine allergy
has_obo_namespace: disease_ontology
id: DOID:0040010
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9989796
annotated property: definition
annotated source: mepivacaine allergy
annotated target: A drug allergy that has_allergic_trigger mepivacaine.

phenobarbital allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 8069
definition: A drug allergy that has_allergic_trigger phenobarbital.
database_cross_reference: SNOMEDCT_US_2025_09_01:293865005
database_cross_reference: UMLS_CUI:C0570785
has_exact_synonym: Luminal allergy
has_exact_synonym: phenobarbitol allergy
has_exact_synonym: phenobarbitone allergy
has_obo_namespace: disease_ontology
id: DOID:0040011
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11994495
annotated property: definition
annotated source: phenobarbital allergy
annotated target: A drug allergy that has_allergic_trigger phenobarbital.

phenytoin allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 8107
definition: A drug allergy that has_allergic_trigger phenytoin.
database_cross_reference: SNOMEDCT_US_2025_09_01:293869004
database_cross_reference: UMLS_CUI:C0570789
has_exact_synonym: Dilantin allergy
has_obo_namespace: disease_ontology
id: DOID:0040012
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7602118
annotated property: definition
annotated source: phenytoin allergy
annotated target: A drug allergy that has_allergic_trigger phenytoin.

ranitidine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 8776
definition: A drug allergy that has_allergic_trigger ranitidine.
database_cross_reference: SNOMEDCT_US_2025_09_01:293653009
database_cross_reference: UMLS_CUI:C0570577
has_exact_synonym: Zantac allergy
has_obo_namespace: disease_ontology
id: DOID:0040013
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7782125
annotated property: definition
annotated source: ranitidine allergy
annotated target: A drug allergy that has_allergic_trigger ranitidine.

corticosteroid allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_50858
definition: A drug allergy that has_allergic_trigger corticosteroid.
has_obo_namespace: disease_ontology
id: DOID:0040014
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2265088
annotated property: definition
annotated source: corticosteroid allergy
annotated target: A drug allergy that has_allergic_trigger corticosteroid.

sulfonamide allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_35358
definition: A drug allergy that has_allergic_trigger sulfonamide.
database_cross_reference: SNOMEDCT_US_2025_09_01:91939003
database_cross_reference: UMLS_CUI:C0038757
has_obo_namespace: disease_ontology
id: DOID:0040015
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2434548
annotated property: definition
annotated source: sulfonamide allergy
annotated target: A drug allergy that has_allergic_trigger sulfonamide.

sulfamethoxazole allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 9332
definition: A drug allergy that has_allergic_trigger sulfamethoxazole.
has_exact_synonym: SMX allergy
has_exact_synonym: SMZ allergy
has_exact_synonym: sulphamethoxazole allergy
has_obo_namespace: disease_ontology
id: DOID:0040016
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7602118
annotated property: definition
annotated source: sulfamethoxazole allergy
annotated target: A drug allergy that has_allergic_trigger sulfamethoxazole.

suprofen allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 9362
definition: A drug allergy that has_allergic_trigger suprofen.
has_exact_synonym: Profenal allergy
has_obo_namespace: disease_ontology
id: DOID:0040017
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/509935
annotated property: definition
annotated source: suprofen allergy
annotated target: A drug allergy that has_allergic_trigger suprofen.

thiopental allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_102166
definition: A drug allergy that has_allergic_trigger thiopental.
database_cross_reference: SNOMEDCT_US_2025_09_01:293709008
database_cross_reference: UMLS_CUI:C0570633
has_exact_synonym: penthiobarbital allergy
has_exact_synonym: pentothiobarbital allergy
has_obo_namespace: disease_ontology
id: DOID:0040018
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2215478
annotated property: definition
annotated source: thiopental allergy
annotated target: A drug allergy that has_allergic_trigger thiopental.

D-mannitol allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_16899
definition: A drug allergy that has_allergic_trigger D-mannitol.
database_cross_reference: SNOMEDCT_US_2025_09_01:295019008
database_cross_reference: UMLS_CUI:C0571922
has_exact_synonym: mannitol allergy
has_obo_namespace: disease_ontology
id: DOID:0040019
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15479277
annotated property: definition
annotated source: D-mannitol allergy
annotated target: A drug allergy that has_allergic_trigger D-mannitol.

cefotaxime allergy
type: Class
subclass of: cephalosporin allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_204928
definition: A cephalosporin allergy that has_allergic_trigger cefotaxime.
database_cross_reference: SNOMEDCT_US_2025_09_01:294545004
database_cross_reference: UMLS_CUI:C0571457
has_obo_namespace: disease_ontology
id: DOID:0040020
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12833570
annotated property: definition
annotated source: cefotaxime allergy
annotated target: A cephalosporin allergy that has_allergic_trigger cefotaxime.

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2083978
annotated property: definition
annotated source: cephalosporin allergy
annotated target: A drug allergy that has_allergic_trigger cephalosporin.

amodiaquine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 2674
definition: A drug allergy that has_allergic_trigger amodiaquine.
database_cross_reference: SNOMEDCT_US_2025_09_01:294390007
database_cross_reference: UMLS_CUI:C0571303
has_exact_synonym: Camoquin allergy
has_exact_synonym: Flavoquine allergy
has_obo_namespace: disease_ontology
id: DOID:0040022
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1959977
annotated property: definition
annotated source: amodiaquine allergy
annotated target: A drug allergy that has_allergic_trigger amodiaquine.

cefaclor allergy
type: Class
subclass of: cephalosporin allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 3478
definition: A cephalosporin allergy that has_allergic_trigger cefaclor.
database_cross_reference: SNOMEDCT_US_2025_09_01:294541008
database_cross_reference: UMLS_CUI:C0571453
has_exact_synonym: Ceclor allergy
has_exact_synonym: cephaclor allergy
has_obo_namespace: disease_ontology
id: DOID:0040023
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12569987
annotated property: definition
annotated source: cefaclor allergy
annotated target: A cephalosporin allergy that has_allergic_trigger cefaclor.

ceftazidime allergy
type: Class
subclass of: cephalosporin allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 3508
definition: A cephalosporin allergy that has_allergic_trigger ceftazidime.
database_cross_reference: SNOMEDCT_US_2025_09_01:294546003
database_cross_reference: UMLS_CUI:C0571458
has_exact_synonym: Fortaz allergy
has_exact_synonym: Tazicef allergy
has_obo_namespace: disease_ontology
id: DOID:0040024
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12833570
annotated property: definition
annotated source: ceftazidime allergy
annotated target: A cephalosporin allergy that has_allergic_trigger ceftazidime.

cefuroxime allergy
type: Class
subclass of: cephalosporin allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 3515
definition: A cephalosporin allergy that has_allergic_trigger cefuroxime.
database_cross_reference: SNOMEDCT_US_2025_09_01:294542001
database_cross_reference: UMLS_CUI:C0571454
has_exact_synonym: Zinacef allergy
has_exact_synonym: cephuroxime allergy
has_obo_namespace: disease_ontology
id: DOID:0040025
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12833570
annotated property: definition
annotated source: cefuroxime allergy
annotated target: A cephalosporin allergy that has_allergic_trigger cefuroxime.

chlorhexidine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 3614
definition: A drug allergy that has_allergic_trigger chlorhexidine.
database_cross_reference: SNOMEDCT_US_2025_09_01:294431008
database_cross_reference: UMLS_CUI:C0571344
has_obo_namespace: disease_ontology
id: DOID:0040026
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10848923
annotated property: definition
annotated source: chlorhexidine allergy
annotated target: A drug allergy that has_allergic_trigger chlorhexidine.

cyclophosphamide allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 4027
definition: A drug allergy that has_allergic_trigger cyclophosphamide.
database_cross_reference: SNOMEDCT_US_2025_09_01:293748008
database_cross_reference: UMLS_CUI:C0570670
has_exact_synonym: cytophosphane allergy
has_obo_namespace: disease_ontology
id: DOID:0040027
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8024619
annotated property: definition
annotated source: cyclophosphamide allergy
annotated target: A drug allergy that has_allergic_trigger cyclophosphamide.

succinylcholine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_45652
definition: A drug allergy that has_allergic_trigger succinylcholine.
database_cross_reference: SNOMEDCT_US_2025_09_01:294224007
database_cross_reference: UMLS_CUI:C0571140
has_exact_synonym: dicholine succinate allergy
has_exact_synonym: succinocholine allergy
has_exact_synonym: sux allergy
has_exact_synonym: suxamethonium allergy
has_obo_namespace: disease_ontology
id: DOID:0040028
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2410473
annotated property: definition
annotated source: succinylcholine allergy
annotated target: A drug allergy that has_allergic_trigger succinylcholine.

trimethoprim allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_45924
definition: A drug allergy that has_allergic_trigger trimethoprim.
database_cross_reference: SNOMEDCT_US_2025_09_01:294477004
database_cross_reference: UMLS_CUI:C0571390
has_exact_synonym: Primsol allergy
has_exact_synonym: TMP allergy
has_exact_synonym: proloprim allergy
has_obo_namespace: disease_ontology
id: DOID:0040029
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3377143
annotated property: definition
annotated source: trimethoprim allergy
annotated target: A drug allergy that has_allergic_trigger trimethoprim.

cefixime allergy
type: Class
subclass of: cephalosporin allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_472657
definition: A cephalosporin allergy that has_allergic_trigger cefixime.
database_cross_reference: SNOMEDCT_US_2025_09_01:294548002
database_cross_reference: UMLS_CUI:C0571460
has_obo_namespace: disease_ontology
id: DOID:0040030
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16867046
annotated property: definition
annotated source: cefixime allergy
annotated target: A cephalosporin allergy that has_allergic_trigger cefixime.

diclofenac allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_47381
definition: A drug allergy that has_allergic_trigger diclofenac.
database_cross_reference: SNOMEDCT_US_2025_09_01:293613006
database_cross_reference: UMLS_CUI:C0570540
has_exact_synonym: Voltaren allergy
has_obo_namespace: disease_ontology
id: DOID:0040031
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21060839
annotated property: definition
annotated source: diclofenac allergy
annotated target: A drug allergy that has_allergic_trigger diclofenac.

carbapenem allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_46633
definition: A drug allergy that has_allergic_trigger carbapenems.
database_cross_reference: SNOMEDCT_US_2025_09_01:294531005
database_cross_reference: UMLS_CUI:C0571443
has_obo_namespace: disease_ontology
id: DOID:0040032
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2457043
annotated property: definition
annotated source: carbapenem allergy
annotated target: A drug allergy that has_allergic_trigger carbapenems.

piperacillin allergy
type: Class
subclass of: beta-lactam allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 8232
definition: A beta-lactam allergy that has_allergic_trigger piperacillin.
database_cross_reference: SNOMEDCT_US_2025_09_01:294515002
database_cross_reference: UMLS_CUI:C0571427
has_obo_namespace: disease_ontology
id: DOID:0040033
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21532862
annotated property: definition
annotated source: piperacillin allergy
annotated target: A beta-lactam allergy that has_allergic_trigger piperacillin.

rocuronium allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 8884
definition: A drug allergy that has_allergic_trigger rocuronium.
database_cross_reference: SNOMEDCT_US_2025_09_01:294233009
database_cross_reference: UMLS_CUI:C0571149
has_exact_synonym: Esmeron allergy
has_exact_synonym: Zemuron allergy
has_obo_namespace: disease_ontology
id: DOID:0040034
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17667569
annotated property: definition
annotated source: rocuronium allergy
annotated target: A drug allergy that has_allergic_trigger rocuronium.

sulfasalazine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 9334
definition: A drug allergy that has_allergic_trigger sulfasalazine.
database_cross_reference: SNOMEDCT_US_2025_09_01:293663001
database_cross_reference: UMLS_CUI:C0570587
has_obo_namespace: disease_ontology
id: DOID:0040035
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2434548
annotated property: definition
annotated source: sulfasalazine allergy
annotated target: A drug allergy that has_allergic_trigger sulfasalazine.

tubocurarine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 9774
definition: A drug allergy that has_allergic_trigger tubocurarine.
database_cross_reference: SNOMEDCT_US_2025_09_01:294231006
database_cross_reference: UMLS_CUI:C0571147
has_exact_synonym: DTC allergy
has_obo_namespace: disease_ontology
id: DOID:0040036
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2215478
annotated property: definition
annotated source: tubocurarine allergy
annotated target: A drug allergy that has_allergic_trigger tubocurarine.

aztreonam allergy
type: Class
subclass of: beta-lactam allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_161680
definition: A beta-lactam allergy that has_allergic_trigger aztreonam.
database_cross_reference: SNOMEDCT_US_2025_09_01:294565006
database_cross_reference: UMLS_CUI:C0571476
has_exact_synonym: Azactam allergy
has_exact_synonym: Primbactam allergy
has_obo_namespace: disease_ontology
id: DOID:0040037
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1991925
annotated property: definition
annotated source: aztreonam allergy
annotated target: A beta-lactam allergy that has_allergic_trigger aztreonam.

meropenem allergy
type: Class
subclass of: allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_43968
definition: An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic.
has_exact_synonym: Merrem allergy
has_obo_namespace: disease_ontology
id: DOID:0040038
in_subset: DO_IEDB_slim

allergic asthma
type: Class
subclass of: respiratory allergy
subclass of: DOID_0080811
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000009
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000603
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000604
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000900
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019153
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020032
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000065
definition: 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.
has_alternative_id: DOID:9416
has_alternative_id: DOID:9417
database_cross_reference: ICD10CM:J45
database_cross_reference: ICD9CM:493.0
database_cross_reference: SNOMEDCT_US_2025_09_01:195968006
database_cross_reference: UMLS_CUI:C0155877
has_exact_synonym: extrinsic asthma with acute exacerbation
has_exact_synonym: extrinsic asthma with status asthmaticus
has_obo_namespace: disease_ontology
has_related_synonym: atopic asthma
id: DOID:9415

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23668298
annotated property: definition
annotated source: meropenem allergy
annotated target: An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic.

hexamethylene diisocyanate allergic asthma
type: Class
subclass of: isocyanates allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53578
definition: An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate.
has_exact_synonym: allergic asthma to HDI
has_exact_synonym: allergic asthma to HMDI
has_obo_namespace: disease_ontology
id: DOID:0040040
in_subset: DO_IEDB_slim

isocyanates allergic asthma
type: Class
subclass of: allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53212
definition: An allergic asthma that has_allergic_trigger isocyanates.
has_obo_namespace: disease_ontology
id: DOID:0040041
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8711735
annotated property: definition
annotated source: hexamethylene diisocyanate allergic asthma
annotated target: An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate.

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3349596
annotated property: definition
annotated source: isocyanates allergic asthma
annotated target: An allergic asthma that has_allergic_trigger isocyanates.

diphenylmethane-4,4'-diisocyanate allergic asthma
type: Class
subclass of: isocyanates allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53218
definition: An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
has_exact_synonym: allergic asthma to MDI
has_obo_namespace: disease_ontology
id: DOID:0040042
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8711735
annotated property: definition
annotated source: diphenylmethane-4,4'-diisocyanate allergic asthma
annotated target: An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate.

toluene meta-diisocyanate allergic asthma
type: Class
subclass of: isocyanates allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53555
definition: An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate.
has_exact_synonym: allergic asthma to TDI
has_obo_namespace: disease_ontology
id: DOID:0040043
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11289402
annotated property: definition
annotated source: toluene meta-diisocyanate allergic asthma
annotated target: An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate.

methyl isocyanate allergic asthma
type: Class
subclass of: isocyanates allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_59059
definition: An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate.
has_exact_synonym: allergic asthma to MIC
has_obo_namespace: disease_ontology
id: DOID:0040044
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3622432
annotated property: definition
annotated source: methyl isocyanate allergic asthma
annotated target: An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate.

nickel allergic asthma
type: Class
subclass of: allergic asthma
subclass of: metal allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_28112
definition: An allergic asthma that has_allergic_trigger nickel atom.
has_exact_synonym: allergic asthma to Ni
has_obo_namespace: disease_ontology
id: DOID:0040045
in_subset: DO_IEDB_slim

metal allergy
type: Class
subclass of: allergic disease
definition: An allergic disease that is triggered by a metal.
has_obo_namespace: disease_ontology
id: DOID:0060501
in_subset: DO_IEDB_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0001022
    some values from: Class
      union of: CHEBI_25213
      union of: CHEBI_33521

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6691936
annotated property: definition
annotated source: nickel allergic asthma
annotated target: An allergic asthma that has_allergic_trigger nickel atom.

nickel allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_28112
definition: An allergic contact dermatitis that has_allergic_trigger nickel atom.
database_cross_reference: ICD10CM:L23.0
has_exact_synonym: allergic contact dermatitis to Ni
has_obo_namespace: disease_ontology
id: DOID:0040046
in_subset: DO_IEDB_slim

allergic contact dermatitis
type: Class
subclass of: allergic disease
subclass of: DOID 2773
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000900
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001003
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_38265
definition: 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.
database_cross_reference: ICD10CM:L23
database_cross_reference: MESH:D017449
database_cross_reference: NCI:C26998
database_cross_reference: SNOMEDCT_US_2025_09_01:200841005
database_cross_reference: UMLS_CUI:C0162820
has_obo_namespace: disease_ontology
id: DOID:3042
in_subset: NCIthesaurus

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7671317
annotated property: definition
annotated source: nickel allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger nickel atom.

trimellitic anhydride allergic asthma
type: Class
subclass of: allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53050
definition: An allergic asthma that has_allergic_trigger trimellitic anhydride.
has_exact_synonym: allergic asthma to TMA
has_obo_namespace: disease_ontology
id: DOID:0040047
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6643876
annotated property: definition
annotated source: trimellitic anhydride allergic asthma
annotated target: An allergic asthma that has_allergic_trigger trimellitic anhydride.

phthalic anhydride allergic asthma
type: Class
subclass of: allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_36605
definition: An allergic asthma that has_allergic_trigger phthalic anhydride.
has_obo_namespace: disease_ontology
id: DOID:0040048
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3711550
annotated property: definition
annotated source: phthalic anhydride allergic asthma
annotated target: An allergic asthma that has_allergic_trigger phthalic anhydride.

maleic anhydride allergic asthma
type: Class
subclass of: allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_474859
definition: An allergic asthma that has_allergic_trigger maleic anhydride.
has_exact_synonym: allergic asthma to MA
has_obo_namespace: disease_ontology
id: DOID:0040049
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3711550
annotated property: definition
annotated source: maleic anhydride allergic asthma
annotated target: An allergic asthma that has_allergic_trigger maleic anhydride.

tetrachlorophthalic anhydride allergic asthma
type: Class
subclass of: allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_59097
definition: An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride.
has_obo_namespace: disease_ontology
id: DOID:0040050
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3711550
annotated property: definition
annotated source: tetrachlorophthalic anhydride allergic asthma
annotated target: An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride.

hexahydrophthalic anhydride allergic asthma
type: Class
subclass of: allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_103210
definition: An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride.
has_exact_synonym: allergic asthma to HHPA
has_obo_namespace: disease_ontology
id: DOID:0040051
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/4008795
annotated property: definition
annotated source: hexahydrophthalic anhydride allergic asthma
annotated target: An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride.

diphenylmethane-4,4'-diisocyanate allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53218
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_53218
definition: An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
has_exact_synonym: allergic contact dermatitis to MDI
has_obo_namespace: disease_ontology
id: DOID:0040052
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6296214
annotated property: definition
annotated source: diphenylmethane-4,4'-diisocyanate allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate.

cobalt allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_27638
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_27638
definition: An allergic contact dermatitis that has_allergic_trigger cobalt atom.
has_exact_synonym: allergic contact dermatitis to Co
has_obo_namespace: disease_ontology
id: DOID:0040053
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8566016
annotated property: definition
annotated source: cobalt allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger cobalt atom.

cobalt allergic asthma
type: Class
subclass of: allergic asthma
subclass of: metal allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_27638
definition: An allergic asthma that has_allergic_trigger cobalt atom.
has_exact_synonym: Co allergic asthma
has_obo_namespace: disease_ontology
id: DOID:0040054
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7444839
annotated property: definition
annotated source: cobalt allergic asthma
annotated target: An allergic asthma that has_allergic_trigger cobalt atom.

palladium allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_33363
definition: An allergic contact dermatitis that has_allergic_trigger palladium.
has_exact_synonym: allergic contact dermatitis to Pd
has_obo_namespace: disease_ontology
id: DOID:0040055
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25097477
annotated property: definition
annotated source: palladium allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger palladium.

chromium allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_28073
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_28073
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger chromium atom.
database_cross_reference: ICD10CM:L23.0
has_obo_namespace: disease_ontology
id: DOID:0040056
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1108802
annotated property: definition
annotated source: chromium allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger chromium atom.

benzoic acid allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_30746
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_30746
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger benzoic acid.
database_cross_reference: SNOMEDCT_US_2025_09_01:294186000
database_cross_reference: UMLS_CUI:C0571102
has_exact_synonym: allergic contact dermatitis to benzoate
has_obo_namespace: disease_ontology
id: DOID:0040057
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25097477
annotated property: definition
annotated source: benzoic acid allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger benzoic acid.

1,4-phenylenediamine allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_51403
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_51403
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine.
has_exact_synonym: allergic contact dermatitis to PPD
has_exact_synonym: allergic contact dermatitis to p-phenylenediamine
has_obo_namespace: disease_ontology
id: DOID:0040058
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8400900
annotated property: definition
annotated source: 1,4-phenylenediamine allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine.

potassium dichromate allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53444
definition: An allergic contact dermatitis that has_allergic_trigger potassium dichromate.
has_obo_namespace: disease_ontology
id: DOID:0040059
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15462465
annotated property: definition
annotated source: potassium dichromate allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger potassium dichromate.

ketoprofen photoallergic dermatitis
type: Class
subclass of: drug allergy
subclass of: photoallergic dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: Class
    intersection of: CHEBI 6128
    intersection of: Restriction
      on property: RO_0000087
      some values from: CHEBI_23888
definition: A photoallergic dermatitis that has_allergic_trigger ketoprofen.
database_cross_reference: SNOMEDCT_US_2025_09_01:293621000
database_cross_reference: UMLS_CUI:C0570547
has_exact_synonym: photoallergic dermatitis to Orudis
has_obo_namespace: disease_ontology
id: DOID:0040060
in_subset: DO_IEDB_slim

photoallergic dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000289
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001003
definition: 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.
database_cross_reference: MESH:D017454
database_cross_reference: SNOMEDCT_US_2025_09_01:111209006
database_cross_reference: UMLS_CUI:C0162824
has_exact_synonym: Photoallergic contact dermatitis
has_exact_synonym: Photoallergic eczema
has_obo_namespace: disease_ontology
id: DOID:3818

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11169173
annotated property: definition
annotated source: ketoprofen photoallergic dermatitis
annotated target: A photoallergic dermatitis that has_allergic_trigger ketoprofen.

remazole black respiratory allergy
type: Class
subclass of: respiratory allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53731
definition: A respiratory allergy that has_allergic_trigger remazole black-GR.
has_exact_synonym: respiratory allergy to Reactive Black 5
has_obo_namespace: disease_ontology
id: DOID:0040061
in_subset: DO_IEDB_slim

respiratory allergy
type: Class
subclass of: allergic disease
definition: An allergic disease that is located_in the respiratory tract.
has_exact_synonym: airway allergy
has_obo_namespace: disease_ontology
id: DOID:0060496
in_subset: DO_IEDB_slim
equivalent class: Class
  intersection of: allergic disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000065

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2312995
annotated property: definition
annotated source: remazole black respiratory allergy
annotated target: A respiratory allergy that has_allergic_trigger remazole black-GR.

chloramine T respiratory allergy
type: Class
subclass of: respiratory allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53767
definition: A respiratory allergy that has_allergic_trigger chloramine T.
has_exact_synonym: respiratory allergy to Chloraseptin
has_exact_synonym: respiratory allergy to Chlorazol
has_exact_synonym: respiratory allergy to Trichlorol
has_obo_namespace: disease_ontology
id: DOID:0040062
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2758361
annotated property: definition
annotated source: chloramine T respiratory allergy
annotated target: A respiratory allergy that has_allergic_trigger chloramine T.

4-vinylcyclohexene dioxide respiratory allergy
type: Class
subclass of: respiratory allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_59001
definition: A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide.
has_exact_synonym: respiratory allergy to vinyl cyclohexene diepoxide
has_obo_namespace: disease_ontology
id: DOID:0040063
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3356477
annotated property: definition
annotated source: 4-vinylcyclohexene dioxide respiratory allergy
annotated target: A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide.

carvone allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_15400
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_38265
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger (-)-carvone.
has_exact_synonym: allergic contact dermatitis to levo-carvone
has_obo_namespace: disease_ontology
id: DOID:0040064
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11380545
annotated property: definition
annotated source: carvone allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger (-)-carvone.

quinidine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_28593
definition: A drug allergy that has_allergic_trigger quinidine.
database_cross_reference: SNOMEDCT_US_2025_09_01:294978001
database_cross_reference: UMLS_CUI:C0571881
has_exact_synonym: Kinidin allergy
has_obo_namespace: disease_ontology
id: DOID:0040065
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
annotated property: definition
annotated source: quinidine allergy
annotated target: A drug allergy that has_allergic_trigger quinidine.

melphalan allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_28876
definition: A drug allergy that has_allergic_trigger melphalan.
database_cross_reference: SNOMEDCT_US_2025_09_01:293751001
database_cross_reference: UMLS_CUI:C0570673
has_exact_synonym: Alkeran allergy
has_obo_namespace: disease_ontology
id: DOID:0040066
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
annotated property: definition
annotated source: melphalan allergy
annotated target: A drug allergy that has_allergic_trigger melphalan.

neomycin sulfate allergic contact dermatitis
type: Class
subclass of: drug allergy
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: Class
    intersection of: CHEBI_31635
    intersection of: Restriction
      on property: RO_0000087
      some values from: CHEBI_23888
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
subclass of: Restriction
  on property: RO_0007001
  some values from: Class
    intersection of: CHEBI_31635
    intersection of: Restriction
      on property: RO_0000087
      some values from: CHEBI_23888
definition: An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.
database_cross_reference: SNOMEDCT_US_2025_09_01:409640001
database_cross_reference: UMLS_CUI:C1443961
has_exact_synonym: allergic contact dermatitis to neomycin sulphate
has_obo_namespace: disease_ontology
id: DOID:0040067
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21616561
annotated property: definition
annotated source: neomycin sulfate allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.

4-tert-butylphenol allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_34444
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_34444
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol.
has_exact_synonym: allergic contact dermatitis to PTBP
has_exact_synonym: allergic contact dermatitis to butylphen
has_obo_namespace: disease_ontology
id: DOID:0040068
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8462290
annotated property: definition
annotated source: 4-tert-butylphenol allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol.

1-chloro-2,4-dinitrobenzene allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_34718
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_16716
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_34718
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.
has_exact_synonym: allergic contact dermatitis to DNCB
has_exact_synonym: allergic contact dermatitis to dinitrochlorobenzene
has_obo_namespace: disease_ontology
id: DOID:0040069
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17008874
annotated property: definition
annotated source: 1-chloro-2,4-dinitrobenzene allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.

co-trimoxazole allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 3770
definition: A drug allergy that has_allergic_trigger co-trimoxazole.
database_cross_reference: SNOMEDCT_US_2025_09_01:294594004
database_cross_reference: UMLS_CUI:C0571504
has_exact_synonym: Bactrim allergy
has_exact_synonym: TMP/SMX allergy
has_exact_synonym: cotrimoxazol allergy
has_exact_synonym: trimethoprim/sulfamethoxazole allergy
has_obo_namespace: disease_ontology
id: DOID:0040070
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
annotated property: definition
annotated source: co-trimoxazole allergy
annotated target: A drug allergy that has_allergic_trigger co-trimoxazole.

sodium aurothiomalate allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 5516
definition: A drug allergy that has_allergic_trigger sodium aurothiomalate.
database_cross_reference: SNOMEDCT_US_2025_09_01:294239008
database_cross_reference: UMLS_CUI:C0571155
has_exact_synonym: gold sodium thiomalate allergy
has_obo_namespace: disease_ontology
id: DOID:0040071
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
annotated property: definition
annotated source: sodium aurothiomalate allergy
annotated target: A drug allergy that has_allergic_trigger sodium aurothiomalate.

parthenolide allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 7939
definition: An allergic contact dermatitis that has_allergic_trigger parthenolide.
has_exact_synonym: allergic contact dermatitis to feverfew
has_obo_namespace: disease_ontology
id: DOID:0040072
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17986299
annotated property: definition
annotated source: parthenolide allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger parthenolide.

disodium cromoglycate allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_128458
definition: A drug allergy that has_allergic_trigger disodium cromoglycate.
has_exact_synonym: DSCG allergy
has_obo_namespace: disease_ontology
id: DOID:0040073
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3128591
annotated property: definition
annotated source: disodium cromoglycate allergy
annotated target: A drug allergy that has_allergic_trigger disodium cromoglycate.

formaldehyde allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_16842
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_16842
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger formaldehyde.
database_cross_reference: SNOMEDCT_US_2025_09_01:294426006
database_cross_reference: UMLS_CUI:C0571339
has_exact_synonym: allergic contact dermatitis to formalin
has_obo_namespace: disease_ontology
id: DOID:0040074
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7902023
annotated property: definition
annotated source: formaldehyde allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger formaldehyde.

benzo[d]isothiazol-3-one allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_167099
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_167099
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one.
has_exact_synonym: allergic contact dermatitis to BIT
has_exact_synonym: allergic contact dermatitis to benzisothiazolone
has_obo_namespace: disease_ontology
id: DOID:0040075
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6446435
annotated property: definition
annotated source: benzo[d]isothiazol-3-one allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one.

phthalyl group allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_26096
definition: A drug allergy that has_allergic_trigger phthalyl group.
database_cross_reference: SNOMEDCT_US_2025_09_01:294571000
database_cross_reference: UMLS_CUI:C0571482
has_exact_synonym: phthalyl allergy
has_obo_namespace: disease_ontology
id: DOID:0040076
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7400667
annotated property: definition
annotated source: phthalyl group allergy
annotated target: A drug allergy that has_allergic_trigger phthalyl group.

alcuronium bromide allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_488385
definition: A drug allergy that has_allergic_trigger alcuronium bromide.
has_obo_namespace: disease_ontology
id: DOID:0040077
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2215478
annotated property: definition
annotated source: alcuronium bromide allergy
annotated target: A drug allergy that has_allergic_trigger alcuronium bromide.

gallamine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_503442
definition: A drug allergy that has_allergic_trigger gallamine.
database_cross_reference: SNOMEDCT_US_2025_09_01:294229002
database_cross_reference: UMLS_CUI:C0571145
has_obo_namespace: disease_ontology
id: DOID:0040078
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2215478
annotated property: definition
annotated source: gallamine allergy
annotated target: A drug allergy that has_allergic_trigger gallamine.

2,4-dinitrophenyl allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53018
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_53018
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group.
has_exact_synonym: allergic contact dermatitis to DNP
has_obo_namespace: disease_ontology
id: DOID:0040079
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17008874
annotated property: definition
annotated source: 2,4-dinitrophenyl allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group.

patent blue V allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_59601
definition: A drug allergy that has_allergic_trigger patent blue V.
has_obo_namespace: disease_ontology
id: DOID:0040080
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19804438
annotated property: definition
annotated source: patent blue V allergy
annotated target: A drug allergy that has_allergic_trigger patent blue V.

acid anhydride respiratory allergy
type: Class
subclass of: respiratory allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_36606
definition: A respiratory allergy that has_allergic_trigger acid anhydride.
has_obo_namespace: disease_ontology
id: DOID:0040081
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6643876
annotated property: definition
annotated source: acid anhydride respiratory allergy
annotated target: A respiratory allergy that has_allergic_trigger acid anhydride.

oxirane allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_27561
definition: A drug allergy that has_allergic_trigger oxirane.
has_exact_synonym: ETO allergy
has_exact_synonym: ethylene oxide allergy
has_obo_namespace: disease_ontology
id: DOID:0040082
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3932500
annotated property: definition
annotated source: oxirane allergy
annotated target: A drug allergy that has_allergic_trigger oxirane.

Chlamydia pneumonia
type: Class
subclass of: bacterial pneumonia
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_83558
definition: A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae.
database_cross_reference: ICD10CM:J16.0
database_cross_reference: ICD9CM:483.1
has_obo_namespace: disease_ontology
id: DOID:0040083
in_subset: DO_IEDB_slim
in_subset: DO_infectious_disease_slim

bacterial pneumonia
type: Class
subclass of: bacterial infectious disease
subclass of: pneumonia
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 2
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0004029
  some values from: pneumonia
definition: A pneumonia involving inflammation of the lungs caused by bacteria.
has_alternative_id: DOID:13815
database_cross_reference: ICD10CM:J15.9
database_cross_reference: ICD9CM:482.9
database_cross_reference: MESH:D018410
database_cross_reference: NCI:C26704
database_cross_reference: SNOMEDCT_US_2025_09_01:53084003
database_cross_reference: UMLS_CUI:C0004626
has_exact_synonym: Pneumonia due to other gram-negative bacteria
has_exact_synonym: gram-negative pneumonia
has_obo_namespace: disease_ontology
id: DOID:874
in_subset: DO_infectious_disease_slim
in_subset: GOLD
in_subset: NCIthesaurus

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16831205
annotated property: definition
annotated source: Chlamydia pneumonia
annotated target: A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae.

Streptococcus pneumonia
type: Class
subclass of: bacterial pneumonia
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 1313
definition: A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae.
database_cross_reference: ICD10CM:J13
database_cross_reference: ICD9CM:481
has_obo_namespace: disease_ontology
id: DOID:0040084
in_subset: DO_IEDB_slim
in_subset: DO_infectious_disease_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26396191
annotated property: definition
annotated source: Streptococcus pneumonia
annotated target: A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae.

bacterial sepsis
type: Class
subclass of: bacterial infectious disease
definition: A bacterial infectious disease has_material_basis_in Bacteria.
database_cross_reference: ICD9CM:995.91
database_cross_reference: SNOMEDCT_US_2021_09_01:10001005
has_obo_namespace: disease_ontology
id: DOID:0040085
in_subset: DO_IEDB_slim
in_subset: DO_infectious_disease_slim

bacterial infectious disease
type: Class
subclass of: disease by infectious agent
definition: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
database_cross_reference: ICD10CM:A49.9
database_cross_reference: MESH:D001424
database_cross_reference: NCI:C2890
database_cross_reference: SNOMEDCT_US_2025_09_01:87628006
database_cross_reference: UMLS_CUI:C0004623
has_obo_namespace: disease_ontology
id: DOID:104
in_subset: DO_AGR_slim
in_subset: DO_FlyBase_slim
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: NCBITaxon 2

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20421654
annotated property: definition
annotated source: bacterial sepsis
annotated target: A bacterial infectious disease has_material_basis_in Bacteria.

Polyomavirus-associated nephropathy
type: Class
subclass of: kidney disease
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_1891762
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002113
definition: A viral infectious disease has_material_basis_in BK polyomavirus (Betapolyomavirus hominis).
database_cross_reference: SNOMEDCT_US_2025_09_01:713886006
database_cross_reference: UMLS_CUI:C1697878
has_exact_synonym: PVAN
has_exact_synonym: polyomavirus associated nephropathy
has_obo_namespace: disease_ontology
id: DOID:0040086
in_subset: DO_IEDB_slim
in_subset: DO_infectious_disease_slim

kidney disease
type: Class
subclass of: DOID 18
definition: A urinary system disease that is located_in the kidney.
has_alternative_id: DOID:11705
database_cross_reference: ICD10CM:N08
database_cross_reference: EFO:0003086
database_cross_reference: MESH:D007674
database_cross_reference: NCI:C3149
database_cross_reference: SNOMEDCT_US_2025_09_01:266612003
database_cross_reference: UMLS_CUI:C0022658
has_exact_synonym: impaired renal function disease
has_exact_synonym: nephropathy
has_obo_namespace: disease_ontology
id: DOID:557
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002113

viral infectious disease
type: Class
subclass of: disease by infectious agent
definition: A disease by infectious agent that results in infection, has_material_basis_in Viruses.
has_alternative_id: DOID:1329
database_cross_reference: ICD10CM:A94
database_cross_reference: ICD10CM:B34.9
database_cross_reference: ICD9CM:060-066.99
database_cross_reference: MESH:D001102
database_cross_reference: MESH:D014777
database_cross_reference: NCI:C3439
database_cross_reference: NCI:C34396
database_cross_reference: SNOMEDCT_US_2025_09_01:34014006
database_cross_reference: SNOMEDCT_US_2025_09_01:40610006
database_cross_reference: UMLS_CUI:C0003723
database_cross_reference: UMLS_CUI:C0042769
has_exact_synonym: Viral Infection
has_exact_synonym: Viral disease
has_exact_synonym: virus infection
has_obo_namespace: disease_ontology
id: DOID:934
in_subset: DO_AGR_slim
in_subset: DO_FlyBase_slim
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_10239

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16537617
annotated property: definition
annotated source: Polyomavirus-associated nephropathy
annotated target: A viral infectious disease has_material_basis_in BK polyomavirus (Betapolyomavirus hominis).

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Polyomavirus-associated nephropathy
annotated target: PVAN

autoimmune peripheral neuropathy
type: Class
subclass of: autoimmune disease of peripheral nervous system
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000010
definition: An autoimmune disease of peripheral nervous system that results in peripheral neuropathy.
has_obo_namespace: disease_ontology
id: DOID:0040087
in_subset: DO_IEDB_slim

autoimmune disease of peripheral nervous system
type: Class
subclass of: autoimmune disease of the nervous system
subclass of: peripheral nervous system disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060033
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000010

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7693874
annotated property: definition
annotated source: autoimmune peripheral neuropathy
annotated target: An autoimmune disease of peripheral nervous system that results in peripheral neuropathy.

autoimmune uveitis
type: Class
subclass of: autoimmune disease of eyes, ear, nose and throat
subclass of: uveal disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001768
definition: An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea.
has_obo_namespace: disease_ontology
id: DOID:0040088
in_subset: DO_IEDB_slim

autoimmune disease of eyes, ear, nose and throat
type: Class
subclass of: sensory system disease
subclass of: autoimmune disease of the nervous system
definition: An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.
has_obo_namespace: disease_ontology
id: DOID:0060030
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032

uveal disease
type: Class
subclass of: eye disease
definition: An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
database_cross_reference: GARD:8192
database_cross_reference: MESH:D014603
database_cross_reference: NCI:C26908
database_cross_reference: SNOMEDCT_US_2025_09_01:95678007
database_cross_reference: UMLS_CUI:C0042161
has_obo_namespace: disease_ontology
id: DOID:3480
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001768

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12938234
annotated property: definition
annotated source: autoimmune uveitis
annotated target: An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea.

autoimmune optic neuritis
type: Class
subclass of: autoimmune disease of peripheral nervous system
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0004904
definition: An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain.
has_obo_namespace: disease_ontology
id: DOID:0040089
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7516573
annotated property: definition
annotated source: autoimmune optic neuritis
annotated target: An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain.

autoimmune gastritis
type: Class
subclass of: autoimmune disease of gastrointestinal tract
subclass of: stomach disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000945
definition: An autoimmune disease of gastrointestinal tract that is located_in the stomach.
has_obo_namespace: disease_ontology
id: DOID:0040090
in_subset: DO_IEDB_slim

autoimmune disease of gastrointestinal tract
type: Class
subclass of: autoimmune disease
subclass of: gastrointestinal system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000309
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060031
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001007

stomach disease
type: Class
subclass of: gastrointestinal system disease
definition: A gastrointestinal system disease that is located_in the stomach.
database_cross_reference: SNOMEDCT_US_2025_09_01:196598004
database_cross_reference: MESH:D013272
database_cross_reference: NCI:C26886
database_cross_reference: UMLS_CUI:C0038354
has_exact_synonym: Gastropathy
has_exact_synonym: stomach disorder
has_obo_namespace: disease_ontology
has_related_synonym: gastric disease
id: DOID:76
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000945

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12645953
annotated property: definition
annotated source: autoimmune gastritis
annotated target: An autoimmune disease of gastrointestinal tract that is located_in the stomach.

autoimmune pancreatitis
type: Class
subclass of: autoimmune disease of endocrine system
subclass of: pancreas disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001264
definition: An autoimmune disease of endocrine system that is located_in the pancreas.
database_cross_reference: MESH:D000081012
database_cross_reference: SNOMEDCT_US_2025_09_01:448542008
database_cross_reference: UMLS_CUI:C2609129
has_obo_namespace: disease_ontology
id: DOID:0040091
in_subset: DO_IEDB_slim

autoimmune disease of endocrine system
type: Class
subclass of: autoimmune disease
subclass of: endocrine system disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060005
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000949

pancreas disease
type: Class
subclass of: endocrine system disease
definition: An endocrine system disease that is located_in the pancreas.
database_cross_reference: ICD10CM:K86.8
database_cross_reference: ICD9CM:577.8
database_cross_reference: SNOMEDCT_US_2025_09_01:197566002
database_cross_reference: UMLS_CUI:C0029771
has_obo_namespace: disease_ontology
id: DOID:26
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001264

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19940298
annotated property: definition
annotated source: autoimmune pancreatitis
annotated target: An autoimmune disease of endocrine system that is located_in the pancreas.

juvenile ankylosing spondylitis
type: Class
subclass of: ankylosing spondylitis
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011462
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001365
definition: An ankylosing spondylitis with onset during childhood.
database_cross_reference: ICD10CM:M08.1
database_cross_reference: NCI:C197919
database_cross_reference: SNOMEDCT_US_2025_09_01:201802002
database_cross_reference: UMLS_CUI:C0409675
has_obo_namespace: disease_ontology
id: DOID:0040092
in_subset: DO_IEDB_slim
in_subset: NCIthesaurus

ankylosing spondylitis
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: spinal disease
subclass of: primary immunodeficiency disease
subclass of: DOID 848
subclass of: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0010701
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000099
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000383
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001365
definition: 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.
database_cross_reference: EFO:0003898
database_cross_reference: GARD:9518
database_cross_reference: ICD10CM:M45
database_cross_reference: ICD9CM:720.0
database_cross_reference: MESH:D013167
database_cross_reference: MIM:PS106300
database_cross_reference: NCI:C84564
database_cross_reference: ORDO:825
database_cross_reference: SNOMEDCT_US_2025_09_01:156619005
database_cross_reference: UMLS_CUI:C0038013
has_exact_synonym: Bekhterev syndrome
has_exact_synonym: Bekhterev's disease
has_exact_synonym: Marie-Strumpell disease
has_obo_namespace: disease_ontology
id: DOID:7147
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7541736
annotated property: definition
annotated source: juvenile ankylosing spondylitis
annotated target: An ankylosing spondylitis with onset during childhood.

drug-induced lupus erythematosus
type: Class
subclass of: lupus erythematosus
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    intersection of: CHEBI_24431
    intersection of: Restriction
      on property: RO_0000087
      some values from: CHEBI_23888
definition: A lupus erythematosus caused by chronic use of certain drugs.
database_cross_reference: ICD10CM:M32.0
database_cross_reference: MESH:C000730515
database_cross_reference: NCI:C114354
database_cross_reference: ORDO:231111
database_cross_reference: SNOMEDCT_US_2025_09_01:80258006
database_cross_reference: UMLS_CUI:C0263591
has_exact_synonym: DIL
has_exact_synonym: DILE
has_obo_namespace: disease_ontology
id: DOID:0040093
in_subset: DO_IEDB_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

lupus erythematosus
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000114
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000124
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000440
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019169
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020060
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002204
definition: 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.
database_cross_reference: ICD10CM:L93
database_cross_reference: ICD9CM:695.4
database_cross_reference: NCI:C27153
database_cross_reference: SNOMEDCT_US_2025_09_01:200936003
database_cross_reference: UMLS_CUI:C0409974
has_exact_synonym: lupus
has_obo_namespace: disease_ontology
id: DOID:8857
in_subset: NCIthesaurus

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1378852
annotated property: definition
annotated source: drug-induced lupus erythematosus
annotated target: A lupus erythematosus caused by chronic use of certain drugs.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: drug-induced lupus erythematosus
annotated target: DIL

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: drug-induced lupus erythematosus
annotated target: DILE

autoimmune glomerulonephritis
type: Class
subclass of: autoimmune disease of urogenital tract
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000074
definition: An autoimmune disease of urogenital tract that is located_in the renal glomerulus.
has_alternative_id: DOID:0050146
has_obo_namespace: disease_ontology
id: DOID:0040094
in_subset: DO_IEDB_slim

autoimmune disease of urogenital tract
type: Class
subclass of: autoimmune disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060049
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004122

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8809141
annotated property: definition
annotated source: autoimmune glomerulonephritis
annotated target: An autoimmune disease of urogenital tract that is located_in the renal glomerulus.

autoimmune cardiomyopathy
type: Class
subclass of: autoimmune disease of cardiovascular system
subclass of: heart disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000948
definition: An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle.
has_obo_namespace: disease_ontology
id: DOID:0040095
in_subset: DO_IEDB_slim

autoimmune disease of cardiovascular system
type: Class
subclass of: autoimmune disease
subclass of: cardiovascular system disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060051
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004535

heart disease
type: Class
subclass of: thoracic disease
subclass of: cardiovascular system disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000915
definition: A cardiovascular system disease that involves the heart.
database_cross_reference: ICD10CM:I51.9
database_cross_reference: ICD9CM:429.9
database_cross_reference: MESH:D006331
database_cross_reference: NCI:C3079
database_cross_reference: SNOMEDCT_US_2025_09_01:194707003
database_cross_reference: UMLS_CUI:C0018799
has_obo_namespace: disease_ontology
id: DOID:114
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000948

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10762456
annotated property: definition
annotated source: autoimmune cardiomyopathy
annotated target: An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle.

autoimmune atherosclerosis
type: Class
subclass of: autoimmune disease of cardiovascular system
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001981
definition: An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries.
has_obo_namespace: disease_ontology
id: DOID:0040096
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17097662
annotated property: definition
annotated source: autoimmune atherosclerosis
annotated target: An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries.

autoimmune vasculitis
type: Class
subclass of: autoimmune disease of cardiovascular system
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001981
definition: An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels.
database_cross_reference: SNOMEDCT_US_2025_09_01:427213005
database_cross_reference: UMLS_CUI:C1328843
has_obo_namespace: disease_ontology
id: DOID:0040097
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23549081
annotated property: definition
annotated source: autoimmune vasculitis
annotated target: An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels.

pemphigus gestationis
type: Class
subclass of: pemphigus
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002097
definition: A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180.
database_cross_reference: ICD10CM:O26.4
has_obo_namespace: disease_ontology
id: DOID:0040098
in_subset: DO_IEDB_slim

pemphigus
type: Class
subclass of: autoimmune disease of skin and connective tissue
subclass of: DOID 8502
subclass of: Class
  intersection of: DOID 2723
  intersection of: Restriction
    on property: RO_0002452
    some values from: SYMP_0000009
definition: 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.
database_cross_reference: MESH:D010392
database_cross_reference: GARD:7352
database_cross_reference: ICD10CM:L10
database_cross_reference: ICD9CM:694.4
database_cross_reference: NCI:C34909
database_cross_reference: SNOMEDCT_US_2025_09_01:156355008
database_cross_reference: UMLS_CUI:C0030807
has_obo_namespace: disease_ontology
id: DOID:9182
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16552711
annotated property: definition
annotated source: pemphigus gestationis
annotated target: A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180.

livedoid vasculitis
type: Class
subclass of: vasculitis
definition: A vasculitis with purpuric ulcers.
database_cross_reference: ICD10CM:L95.0
database_cross_reference: ICD9CM:709.1
has_exact_synonym: livedoid vasculopathy
has_obo_namespace: disease_ontology
id: DOID:0040099
in_subset: DO_IEDB_slim

vasculitis
type: Class
subclass of: vascular disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001981
definition: A vascular disease that is characterized by inflammation of the blood vessels.
database_cross_reference: GARD:9565
database_cross_reference: MESH:D014657
database_cross_reference: NCI:C26912
database_cross_reference: SNOMEDCT_US_2025_09_01:195375002
database_cross_reference: UMLS_CUI:C0042384
has_exact_synonym: Angiitis
has_obo_namespace: disease_ontology
id: DOID:865
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10925314
annotated property: definition
annotated source: livedoid vasculitis
annotated target: A vasculitis with purpuric ulcers.

Hirata disease
type: Class
subclass of: autoimmune disease of endocrine system
definition: An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.
database_cross_reference: SNOMEDCT_US_2025_09_01:408539000
database_cross_reference: UMLS_CUI:C0854359
has_exact_synonym: insulin autoimmune syndrome
has_obo_namespace: disease_ontology
id: DOID:0040100
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10445096
annotated property: definition
annotated source: Hirata disease
annotated target: An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.

N,N'-diphenylthiourea allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_138412
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_138412
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.
has_obo_namespace: disease_ontology
has_related_synonym: neoprene allergy
id: DOID:0040101
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28295200
annotated property: definition
annotated source: N,N'-diphenylthiourea allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.

N,N'-diethylthiourea allergic contact dermatitis
type: Class
subclass of: allergic contact dermatitis
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_82448
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_82448
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.
has_obo_namespace: disease_ontology
has_related_synonym: neoprene allergy
id: DOID:0040102
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28295200
annotated property: definition
annotated source: N,N'-diethylthiourea allergic contact dermatitis
annotated target: An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.

cefotiam allergy
type: Class
subclass of: cephalosporin allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_355510
definition: A cephalosporin allergy that has_allergic_trigger cefotiam.
has_obo_namespace: disease_ontology
id: DOID:0040103
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28543395
annotated property: definition
annotated source: cefotiam allergy
annotated target: A cephalosporin allergy that has_allergic_trigger cefotiam.

toluene 2,4-diisocyanate allergic asthma
type: Class
subclass of: toluene meta-diisocyanate allergic asthma
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53556
definition: A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate.
has_obo_namespace: disease_ontology
id: DOID:0040104
in_subset: DO_IEDB_slim

Axiom
comment: IEDB:RV
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/
annotated property: definition
annotated source: toluene 2,4-diisocyanate allergic asthma
annotated target: A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate.

obsolete Actinomadura madurae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050001
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Actinomadura pelletieri infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050002
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Streptomyces somaliensis infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050003
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

seminal vesicle acute gonorrhea
type: Class
subclass of: gonococcal seminal vesiculitis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000006
definition: 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.
database_cross_reference: SNOMEDCT_US_2025_09_01:301990003
database_cross_reference: UMLS_CUI:C0578661
has_obo_namespace: disease_ontology
id: DOID:0050004
in_subset: DO_infectious_disease_slim

gonococcal seminal vesiculitis
type: Class
subclass of: DOID 7551
subclass of: DOID 9365
database_cross_reference: SNOMEDCT_US_2025_09_01:301990003
database_cross_reference: UMLS_CUI:C0578661
has_exact_synonym: Gonorrhea of seminal vesicle
has_obo_namespace: disease_ontology
id: DOID:10400
in_subset: DO_infectious_disease_slim
equivalent class: Class
  intersection of: DOID 7551
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000998

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation
annotated property: definition
annotated source: seminal vesicle acute gonorrhea
annotated target: 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.

obsolete cutaneous strongyloidiasis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050007
owl:deprecated: true

obsolete intestinal strongyloidiasis
type: Class
definition: A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis.
has_obo_namespace: disease_ontology
id: DOID:0050009
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm
database_cross_reference: url:http://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh
annotated property: definition
annotated source: obsolete intestinal strongyloidiasis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050010
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm
annotated property: definition
annotated source: obsolete Mansonella perstans infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050011
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm
annotated property: definition
annotated source: obsolete Mansonella streptocerca infectious disease
annotated target: 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
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3426298
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
definition: 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.
database_cross_reference: GARD:6038
has_exact_synonym: Chikungunya fever
has_obo_namespace: disease_ontology
id: DOID:0050012
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chikungunya_virus
database_cross_reference: url:https://www.cdc.gov/chikungunya/about/
annotated property: definition
annotated source: chikungunya
annotated target: 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.

obsolete carbohydrate metabolism disease
type: Class
definition: An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
has_obo_namespace: disease_ontology
id: DOID:0050013
owl:deprecated: true

Axiom
dc:type: ECO_0007644
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html
annotated property: definition
annotated source: obsolete carbohydrate metabolism disease
annotated target: An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.

obsolete epizootic hemorrhagic disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
has_related_synonym: EHD
id: DOID:0050014
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf
annotated property: definition
annotated source: obsolete epizootic hemorrhagic disease
annotated target: 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.

obsolete Rocio virus encephalitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050015
owl:deprecated: true

Axiom
database_cross_reference: url:http://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/17622628
database_cross_reference: url:http://www.scielo.br/pdf/rsp/v20n3/01.pdf
annotated property: definition
annotated source: obsolete Rocio virus encephalitis
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050024
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

human granulocytic anaplasmosis
type: Class
subclass of: ehrlichiosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 6943
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
has_alternative_id: DOID:0050021
has_alternative_id: DOID:0050022
has_exact_synonym: human granulocytic ehrlichiosis
has_obo_namespace: disease_ontology
has_related_synonym: HGE
id: DOID:0050025
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease

ehrlichiosis
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon 945
    union of: NCBITaxon 948
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
has_alternative_id: DOID:0050023
database_cross_reference: GARD:2092
database_cross_reference: ICD10CM:A77.4
database_cross_reference: ICD9CM:082.4
database_cross_reference: MESH:D016873
database_cross_reference: SNOMEDCT_US_2025_09_01:77361002
database_cross_reference: UMLS_CUI:C0085399
has_exact_synonym: human ehrlichiosis
has_obo_namespace: disease_ontology
id: DOID:10242
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25999228
annotated property: definition
annotated source: human granulocytic anaplasmosis
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_related_synonym
annotated source: human granulocytic anaplasmosis
annotated target: HGE

human monocytic ehrlichiosis
type: Class
subclass of: ehrlichiosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 945
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000012
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: NCBITaxon_29930
    union of: NCBITaxon_34613
    union of: NCBITaxon 6945
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
has_alternative_id: DOID:14091
database_cross_reference: GARD:72
has_obo_namespace: disease_ontology
has_related_synonym: Ehrlichiosis chafeensis
id: DOID:0050026
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/
annotated property: definition
annotated source: human monocytic ehrlichiosis
annotated target: 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.

mineral metabolism disease
type: Class
subclass of: acquired metabolic disease
definition: An acquired metabolic disease that is characterized by abnormal mineral metabolism.
has_obo_namespace: disease_ontology
id: DOID:0050032

acquired metabolic disease
type: Class
subclass of: disease of metabolism
definition: 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.
creation_date: 2011-08-24T02:53:03Z
has_obo_namespace: disease_ontology
id: DOID:0060158
in_subset: DO_MGI_slim

Axiom
dc:type: ECO_0007644
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html
annotated property: definition
annotated source: mineral metabolism disease
annotated target: An acquired metabolic disease that is characterized by abnormal mineral metabolism.

African tick-bite fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_35788
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34608
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34610
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_alternative_id: DOID:0050034
has_alternative_id: DOID:0050036
has_exact_synonym: Rickettsia africae spotted fever
has_exact_synonym: south african tick-bite fever
has_obo_namespace: disease_ontology
id: DOID:0050035
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

spotted fever
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 780
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: TRANS_0000020
    union of: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
database_cross_reference: MESH:D000073605
database_cross_reference: GARD:4998
database_cross_reference: ICD10CM:A77.9
database_cross_reference: ICD9CM:082.0
database_cross_reference: SNOMEDCT_US_2025_09_01:186771002
database_cross_reference: UMLS_CUI:C0038041
has_exact_synonym: Spotted fever group rickettsial disease
has_obo_namespace: disease_ontology
id: DOID:11104
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: gram-negative_bacterial_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://jcm.asm.org/cgi/reprint/42/2/816
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated property: definition
annotated source: African tick-bite fever
annotated target: 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.

Astrakhan spotted fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 781
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: NCBITaxon_127007
    union of: NCBITaxon_34632
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050041
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/7985764/
annotated property: definition
annotated source: Astrakhan spotted fever
annotated target: 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
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 781
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34632
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050042
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:http://www.biomedcentral.com/1471-2180/5/11
annotated property: definition
annotated source: Indian tick typhus
annotated target: 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
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 781
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34632
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_obo_namespace: disease_ontology
has_related_synonym: Israeli spotted fever
id: DOID:0050043
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:http://www.biomedcentral.com/1471-2180/5/11
annotated property: definition
annotated source: Israeli tick typhus
annotated target: 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.

Far Eastern spotted fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_226665
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_523089
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_exact_synonym: Rickettsia heilongjiangensis spotted fever
has_obo_namespace: disease_ontology
id: DOID:0050046
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf
annotated property: definition
annotated source: Far Eastern spotted fever
annotated target: 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.

Flinders Island spotted fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_37816
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34607
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019142
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_alternative_id: DOID:0050048
has_exact_synonym: Thai tick typhus
has_obo_namespace: disease_ontology
has_related_synonym: FISF
id: DOID:0050047
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.cdc.gov/otherspottedfever/imported/index.html
annotated property: definition
annotated source: Flinders Island spotted fever
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_related_synonym
annotated source: Flinders Island spotted fever
annotated target: FISF

Japanese spotted fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_35790
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_181088
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34619
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_alternative_id: DOID:0050049
has_exact_synonym: Rickettsia japonica spotted fever
has_exact_synonym: oriental spotted fever
has_obo_namespace: disease_ontology
id: DOID:0050050
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf
annotated property: definition
annotated source: Japanese spotted fever
annotated target: 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 parkeri spotted fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_35792
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34609
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019158
definition: 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.
has_exact_synonym: maculatum infection
has_obo_namespace: disease_ontology
id: DOID:0050051
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri
annotated property: definition
annotated source: Rickettsia parkeri spotted fever
annotated target: 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.

Rocky Mountain spotted fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 783
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34620
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_34621
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000457
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000636
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000638
definition: 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.
has_alternative_id: DOID:0050056
has_alternative_id: DOID:1708
database_cross_reference: GARD:7585
database_cross_reference: MESH:D012373
has_exact_synonym: Tick typhus
has_obo_namespace: disease_ontology
has_related_synonym: Brazilian spotted
has_related_synonym: Choix
has_related_synonym: Exanthematic typhus of Sao Paulo
has_related_synonym: Fiebre maculosa
has_related_synonym: Fiebre manchada
has_related_synonym: Sao Paulo typhus
has_related_synonym: So Paulo fever
has_related_synonym: Tobia fever
id: DOID:0050052
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
database_cross_reference: url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29
annotated property: definition
annotated source: Rocky Mountain spotted fever
annotated target: 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.

obsolete Rickettsia honei spotted fever
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050053
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
owl:deprecated: true

oropharyngeal anthrax
type: Class
subclass of: gastrointestinal anthrax
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000309
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000376
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019147
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050059
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

gastrointestinal anthrax
type: Class
subclass of: anthrax disease
subclass of: gastrointestinal system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000309
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000376
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019147
definition: 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.
database_cross_reference: ICD10CM:A22.2
database_cross_reference: ICD9CM:022.2
database_cross_reference: MESH:C571911
database_cross_reference: SNOMEDCT_US_2025_09_01:186302005
database_cross_reference: UMLS_CUI:C0152945
has_obo_namespace: disease_ontology
id: DOID:13386
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
equivalent class: Class
  intersection of: anthrax disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001007

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3934300
annotated property: definition
annotated source: oropharyngeal anthrax
annotated target: 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.

erysipeloid
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 1648
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000007
definition: 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.
database_cross_reference: MESH:D004887
has_obo_namespace: disease_ontology
id: DOID:0050061
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

primary bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050338
in_subset: DO_FlyBase_slim
in_subset: DO_infectious_disease_slim

Axiom
database_cross_reference: url:https://en.wikipedia.org/wiki/Erysipeloid
annotated property: definition
annotated source: erysipeloid
annotated target: 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.

obsolete abortive plague
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050063
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete cutaneous listeriosis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050065
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete Listeria meningoencephalitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050066
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete Listeria septicaemia
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050067
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete pestis minor
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050068
owl:deprecated: true

obsolete Yersinia pestis infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050069
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete plague meningitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050070
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

adiaspiromycosis
type: Class
subclass of: primary systemic mycosis
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_2060905
    union of: NCBITaxon_73230
subclass of: Restriction
  on property: RO_0004026
  some values from: Class
    union of: UBERON_0000014
    union of: UBERON_0002048
definition: 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.
database_cross_reference: MESH:C000656784
has_obo_namespace: disease_ontology
id: DOID:0050072
in_subset: DO_infectious_disease_slim

primary systemic mycosis
type: Class
subclass of: systemic mycosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4751
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050292
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract
annotated property: definition
annotated source: adiaspiromycosis
annotated target: 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.

invasive aspergillosis
type: Class
subclass of: aspergillosis
subclass of: lung disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 5052
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000041
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002048
subclass of: Restriction
  on property: RO_0004029
  some values from: pneumonia
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050073
in_subset: DO_infectious_disease_slim

aspergillosis
type: Class
subclass of: opportunistic mycosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 5052
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 5052
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_614079
definition: 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.
database_cross_reference: SNOMEDCT_US_2025_09_01:266218008
database_cross_reference: GARD:5856
database_cross_reference: ICD10CM:B44
database_cross_reference: ICD9CM:117.3
database_cross_reference: MESH:D001228
database_cross_reference: NCI:C2886
database_cross_reference: UMLS_CUI:C0004030
has_exact_synonym: Infection due to Aspergillus
has_obo_namespace: disease_ontology
id: DOID:13564
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

lung disease
type: Class
comment: Updating out dated CUI and removing lung abscess as a synonym.
subclass of: lower respiratory tract disease
definition: 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.
has_alternative_id: DOID:11894
has_alternative_id: DOID:11895
has_alternative_id: DOID:29
has_alternative_id: DOID:766
database_cross_reference: ICD10CM:J98.4
database_cross_reference: MESH:D008171
database_cross_reference: NCI:C3198
database_cross_reference: SNOMEDCT_US_2025_09_01:266374002
database_cross_reference: UMLS_CUI:C0024115
has_obo_namespace: disease_ontology
id: DOID:850
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002048

pneumonia
type: Class
subclass of: lung disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
definition: 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.
has_alternative_id: DOID:10509
has_alternative_id: DOID:11742
has_alternative_id: DOID:5871
database_cross_reference: MESH:D011014
database_cross_reference: NCI:C3333
database_cross_reference: SNOMEDCT_US_2025_09_01:266391003
database_cross_reference: UMLS_CUI:C0032285
has_exact_synonym: acute pneumonia
has_obo_namespace: disease_ontology
id: DOID:552
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm
annotated property: definition
annotated source: invasive aspergillosis
annotated target: 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.

obsolete tonsillar aspergillosis
type: Class
definition: An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.
has_obo_namespace: disease_ontology
id: DOID:0050074
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/792373
annotated property: definition
annotated source: obsolete tonsillar aspergillosis
annotated target: An aspergillosis that involves fungal infection of the tonsils by Aspergillus species.

obsolete pulmonary blastomycosis
type: Class
definition: 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.
has_alternative_id: DOID:0050076
has_alternative_id: DOID:0050077
has_obo_namespace: disease_ontology
id: DOID:0050075
owl:deprecated: true

obsolete cervix tuberculosis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050078
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete niacin deficiency
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050079
owl:deprecated: true

obsolete iodine deficiency
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050080
owl:deprecated: true

obsolete hepatic Torque teno virus infectious disease
type: Class
definition: A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion.
has_alternative_id: DOID:0050081
has_exact_synonym: TT virus liver infection
has_exact_synonym: Transfussion-transmitted virus liver infection
has_obo_namespace: disease_ontology
has_related_synonym: human circovirus infectious disease
id: DOID:0050082
owl:deprecated: true

Keshan disease
type: Class
subclass of: nutritional deficiency disease
definition: A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.
database_cross_reference: GARD:8761
database_cross_reference: MESH:C536166
has_obo_namespace: disease_ontology
id: DOID:0050083
in_subset: DO_rare_slim

nutritional deficiency disease
type: Class
subclass of: DOID 374
definition: A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
database_cross_reference: MESH:D003677
database_cross_reference: UMLS_CUI:C0011156
has_obo_namespace: disease_ontology
id: DOID:5113

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Keshan_disease
annotated property: definition
annotated source: Keshan disease
annotated target: A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.

obsolete rhinotracheitis
type: Class
comment: Not a human disease.
definition: 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.
has_exact_synonym: Feline viral rhinotracheitis
has_exact_synonym: feline coryza
has_exact_synonym: feline influenza
has_obo_namespace: disease_ontology
id: DOID:0050084
owl:deprecated: true

Axiom
dc:type: ECO_0007643
database_cross_reference: url:https://www.merriam-webster.com/medical/rhinotracheitis
annotated property: definition
annotated source: obsolete rhinotracheitis
annotated target: 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.

obsolete entomophthoromycosis
type: Class
definition: A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.
has_obo_namespace: disease_ontology
id: DOID:0050085
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm
annotated property: definition
annotated source: obsolete entomophthoromycosis
annotated target: A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales.

obsolete cutaneous mucormycosis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050086
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/
annotated property: definition
annotated source: obsolete cutaneous mucormycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050088
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16020690
annotated property: definition
annotated source: obsolete gastrointestinal mucormycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050089
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf
database_cross_reference: url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4
annotated property: definition
annotated source: obsolete pulmonary mucormycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050090
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.merck.com/mmhe/sec17/ch197/ch197h.html
annotated property: definition
annotated source: obsolete rhinocerebral mucormycosis
annotated target: 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
type: Class
definition: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.
has_obo_namespace: disease_ontology
id: DOID:0050091
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/
annotated property: definition
annotated source: obsolete disseminated paracoccidioidomycosis
annotated target: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis.

obsolete pulmonary paracoccidioidomycosis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050092
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/
annotated property: definition
annotated source: obsolete pulmonary paracoccidioidomycosis
annotated target: 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
type: Class
definition: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
has_obo_namespace: disease_ontology
id: DOID:0050093
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sporotrichosis
annotated property: definition
annotated source: obsolete disseminated sporotrichosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050094
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://emedicine.medscape.com/article/228723-overview
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/
annotated property: definition
annotated source: obsolete lymphocutaneous sporotrichosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050095
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sporotrichosis
annotated property: definition
annotated source: obsolete pulmonary sporotrichosis
annotated target: 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
type: Class
subclass of: skin disease
subclass of: dermatophytosis
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_523103
    union of: NCBITaxon_63417
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000014
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002027
definition: 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.
database_cross_reference: MESH:C000656825
has_exact_synonym: dermatophytosis of beard
has_obo_namespace: disease_ontology
id: DOID:0050096
in_subset: DO_infectious_disease_slim

skin disease
type: Class
subclass of: integumentary system disease
definition: An integumentary system disease that is located_in skin.
has_alternative_id: DOID:1576
has_alternative_id: DOID:1698
has_alternative_id: DOID:187
has_alternative_id: DOID:6486
has_alternative_id: DOID:8948
database_cross_reference: ICD9CM:702
database_cross_reference: MESH:D012871
database_cross_reference: MESH:D012873
database_cross_reference: NCI:C156032
database_cross_reference: NCI:C3371
database_cross_reference: SNOMEDCT_US_2025_09_01:201095006
database_cross_reference: SNOMEDCT_US_2025_09_01:5613003
database_cross_reference: SNOMEDCT_US_2025_09_01:95320005
database_cross_reference: UMLS_CUI:C0029574
database_cross_reference: UMLS_CUI:C0037274
database_cross_reference: UMLS_CUI:C0037277
has_exact_synonym: Genodermatosis
has_exact_synonym: skin and subcutaneous tissue disease
has_obo_namespace: disease_ontology
id: DOID:37
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014

dermatophytosis
type: Class
subclass of: cutaneous mycosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4890
definition: 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.
database_cross_reference: ICD10CM:B35
database_cross_reference: ICD9CM:110
database_cross_reference: NCI:C26745
database_cross_reference: SNOMEDCT_US_2025_09_01:154394006
database_cross_reference: UMLS_CUI:C0011636
has_exact_synonym: ringworm
has_obo_namespace: disease_ontology
id: DOID:8913
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae
annotated property: definition
annotated source: tinea barbae
annotated target: 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.

ectothrix infectious disease
type: Class
subclass of: hair disease
subclass of: tinea capitis
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_63417
    union of: NCBITaxon_63418
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001037
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002076
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050097
in_subset: DO_infectious_disease_slim

hair disease
type: Class
subclass of: integumentary system disease
definition: An integumentary system disease that is located_in hair.
database_cross_reference: MESH:D006201
database_cross_reference: NCI:C34656
database_cross_reference: SNOMEDCT_US_2025_09_01:267862002
database_cross_reference: UMLS_CUI:C0018500
has_obo_namespace: disease_ontology
id: DOID:421
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001037

tinea capitis
type: Class
subclass of: dermatophytosis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000432
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019160
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020030
subclass of: Restriction
  on property: RO_0004026
  some values from: Class
    union of: UBERON_0000403
    union of: UBERON_0001702
    union of: UBERON_0010163
    union of: UBERON_0016446
definition: 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.
has_alternative_id: DOID:0050114
has_alternative_id: DOID:12319
database_cross_reference: ICD9CM:110.0
database_cross_reference: NCI:C34536
database_cross_reference: SNOMEDCT_US_2025_09_01:186985002
database_cross_reference: UMLS_CUI:C0011640
has_exact_synonym: Scalp ringworm
has_exact_synonym: Trichophyton rubrum tinea capitis
has_exact_synonym: dermatophytosis of scalp or beard
has_exact_synonym: tinea capitis due to Trichophyton rubrum
has_obo_namespace: disease_ontology
has_related_synonym: Dermatophytosis of scalp
id: DOID:4337
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis
annotated property: definition
annotated source: ectothrix infectious disease
annotated target: 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.

obsolete Microsporum audouinii tinea capitis
type: Class
definition: An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii.
has_obo_namespace: disease_ontology
id: DOID:0050098
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html
annotated property: definition
annotated source: obsolete Microsporum audouinii tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050099
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html
annotated property: definition
annotated source: obsolete Microsporum canis tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050100
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html
annotated property: definition
annotated source: obsolete Microsporum distortum tinea capitis
annotated target: 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
type: Class
definition: An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum.
has_obo_namespace: disease_ontology
id: DOID:0050101
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html
annotated property: definition
annotated source: obsolete Microsporum ferrugineum tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050102
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://archderm.highwire.org/cgi/reprint/64/3/309.pdf
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html
annotated property: definition
annotated source: obsolete Microsporum gypseum tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050103
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/3756652.pdf
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html
annotated property: definition
annotated source: obsolete Microsporum nanum tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050104
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html
annotated property: definition
annotated source: obsolete Trichophyton verrucosum tinea capitis
annotated target: 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
type: Class
subclass of: hair disease
subclass of: tinea capitis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4890
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001037
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002076
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050105
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/
annotated property: definition
annotated source: endothrix infectious disease
annotated target: 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
type: Class
definition: An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense.
has_obo_namespace: disease_ontology
id: DOID:0050106
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html
annotated property: definition
annotated source: obsolete Trichophyton soudanense tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050107
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html
annotated property: definition
annotated source: obsolete Trichophyton tonsurans tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050108
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html
annotated property: definition
annotated source: obsolete Trichophyton violaceum tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050110
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html
annotated property: definition
annotated source: obsolete Trichophyton schoenleinii tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050111
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html
annotated property: definition
annotated source: obsolete Microsporum fulvum tinea capitis
annotated target: 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
type: Class
definition: An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii.
has_obo_namespace: disease_ontology
id: DOID:0050112
owl:deprecated: true

Axiom
database_cross_reference: url:http://emedicine.medscape.com/article/787217-overview
database_cross_reference: url:http://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm
annotated property: definition
annotated source: obsolete Trichophyton megninii tinea capitis
annotated target: 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
type: Class
definition: An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum.
has_obo_namespace: disease_ontology
id: DOID:0050113
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html
annotated property: definition
annotated source: obsolete Trichophyton equinum tinea capitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050115
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Trichophyton
database_cross_reference: url:http://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf
annotated property: definition
annotated source: obsolete Trichophyton yaoundei tinea capitis
annotated target: 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
type: Class
subclass of: tinea corporis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_63419
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050116
in_subset: DO_infectious_disease_slim

tinea corporis
type: Class
subclass of: skin disease
subclass of: dermatophytosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4890
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000014
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002027
definition: 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.
database_cross_reference: ICD9CM:110.5
database_cross_reference: SNOMEDCT_US_2025_09_01:186994008
database_cross_reference: UMLS_CUI:C0546826
has_exact_synonym: Dermatophytosis of the trunk
has_exact_synonym: dermatophytosis of the body
has_obo_namespace: disease_ontology
id: DOID:12179
in_subset: DO_infectious_disease_slim

Axiom
database_cross_reference: url:https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata
annotated property: definition
annotated source: tinea imbricata
annotated target: 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.

disease by infectious agent
type: Class
comment: DO:wk
subclass of: disease
definition: 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.
OBI_9991118: infectious disease
has_alternative_id: DOID:10115
has_alternative_id: DOID:11078
has_alternative_id: DOID:1304
has_alternative_id: DOID:1321
has_alternative_id: DOID:2040
has_alternative_id: DOID:2288
has_alternative_id: DOID:3099
has_alternative_id: DOID:4120
has_alternative_id: DOID:4620
has_alternative_id: DOID:5256
has_alternative_id: DOID:945
has_alternative_id: DOID:95
has_alternative_id: DOID:9532
has_alternative_id: DOID:9696
database_cross_reference: ICD9CM:079.0
database_cross_reference: UMLS_CUI:C0001485
has_exact_synonym: infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050117
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: DO_infectious_disease_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: Class
      union of: NCBITaxon_10239
      union of: NCBITaxon 2
      union of: NCBITaxon 2759
      union of: NCBITaxon_36469

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26726
annotated property: definition
annotated source: disease by infectious agent
annotated target: 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.

La Crosse encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
subclass of: Class
  union of: Restriction
    on property: RO_0002451
    some values from: NCBITaxon_140438
  union of: Restriction
    on property: RO_0002451
    some values from: NCBITaxon 7160
  union of: Restriction
    on property: RO_0002451
    some values from: NCBITaxon 7162
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052409
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000030
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000124
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000605
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000955
definition: 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.
has_alternative_id: DOID:10840
database_cross_reference: ICD10CM:A83.5
database_cross_reference: ICD9CM:062.5
database_cross_reference: MESH:D004670
database_cross_reference: SNOMEDCT_US_2025_09_01:69627004
database_cross_reference: UMLS_CUI:C0014053
has_exact_synonym: California Encephalitis
has_exact_synonym: California virus encephalitis
has_exact_synonym: Neuroinvasive California encephalitis virus infection
has_obo_namespace: disease_ontology
id: DOID:0050118
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

brain disease
type: Class
subclass of: central nervous system disease
definition: A central nervous system disease that is located_in the brain.
has_alternative_id: DOID:8510
database_cross_reference: ICD10CM:G93.40
database_cross_reference: ICD10CM:G93.9
database_cross_reference: ICD9CM:348.30
database_cross_reference: ICD9CM:348.9
database_cross_reference: MESH:D001927
database_cross_reference: NCI:C26920
database_cross_reference: NCI:C96413
database_cross_reference: SNOMEDCT_US_2025_09_01:81308009
database_cross_reference: UMLS_CUI:C0006111
database_cross_reference: UMLS_CUI:C0085584
has_exact_synonym: encephalopathy
has_obo_namespace: disease_ontology
id: DOID:936
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000955

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:https://en.wikipedia.org/wiki/La_Crosse_encephalitis
database_cross_reference: url:https://www.cdc.gov/la-crosse-encephalitis/about/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK562248/
annotated property: definition
annotated source: La Crosse encephalitis
annotated target: 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.

obsolete West Nile virus neurological syndrome
type: Class
definition: 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.
has_exact_synonym: WNND
has_exact_synonym: WNNS
has_exact_synonym: West nile neuroinvasive disease
has_obo_namespace: disease_ontology
id: DOID:0050119
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php
annotated property: definition
annotated source: obsolete West Nile virus neurological syndrome
annotated target: 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.

hemophagocytic lymphohistiocytosis
type: Class
comment: Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].
subclass of: lymphatic system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000047
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000521
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019142
definition: 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.
has_alternative_id: DOID:6453
database_cross_reference: GARD:6589
database_cross_reference: ICD10CM:D76.1
database_cross_reference: MESH:D051359
database_cross_reference: MIM:PS267700
database_cross_reference: NCI:C34792
database_cross_reference: ORDO:540
database_cross_reference: SNOMEDCT_US_2025_09_01:190958003
database_cross_reference: UMLS_CUI:C0024291
has_exact_synonym: haemophagocytic syndrome
has_obo_namespace: disease_ontology
id: DOID:0050120
in_subset: DO_rare_slim
in_subset: NCIthesaurus

lymphatic system disease
type: Class
subclass of: immune system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: An immune system disease that is located_in the lymphatic system.
database_cross_reference: MESH:D008206
database_cross_reference: SNOMEDCT_US_2025_09_01:266326002
database_cross_reference: UMLS_CUI:C0024228
has_exact_synonym: Lymphangiopathy
has_exact_synonym: Lymphatic disease
has_exact_synonym: disease of lympoid system
has_exact_synonym: disorder of lymph node and lymphatics
has_exact_synonym: disorder of lymphatic system
has_exact_synonym: disorder of lymphoid system
has_exact_synonym: lymphatic disorder
has_exact_synonym: lympoid system disease
has_obo_namespace: disease_ontology
id: DOID:75
in_subset: DO_RAD_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001744

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis
database_cross_reference: url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso
annotated property: definition
annotated source: hemophagocytic lymphohistiocytosis
annotated target: 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.

obsolete tuberculous encephalitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050123
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

dengue shock syndrome
type: Class
subclass of: dengue disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052464
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000059
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000448
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000450
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000741
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000742
definition: 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.
has_exact_synonym: DSS
has_obo_namespace: disease_ontology
id: DOID:0050125
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

dengue disease
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052464
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000130
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020023
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_614371
definition: 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.
has_alternative_id: DOID:0050142
database_cross_reference: GARD:6254
database_cross_reference: ICD10CM:A90
database_cross_reference: ICD9CM:061
database_cross_reference: MESH:D003715
database_cross_reference: NCI:C34528
database_cross_reference: SNOMEDCT_US_2025_09_01:38362002
database_cross_reference: UMLS_CUI:C0011311
has_exact_synonym: Dengue Fever
has_exact_synonym: breakbone fever
has_exact_synonym: classic dengue
has_obo_namespace: disease_ontology
has_related_synonym: classical dengue
id: DOID:12205
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dengue_shock_syndrome
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3097561/
annotated property: definition
annotated source: dengue shock syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: dengue shock syndrome
annotated target: DSS

obsolete Tahyna virus encephalitis
type: Class
definition: 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.
has_exact_synonym: valtice fever
has_obo_namespace: disease_ontology
has_related_synonym: Tahyna virus infection
id: DOID:0050126
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.cdc.gov/eid/content/15/2/306.htm
annotated property: definition
annotated source: obsolete Tahyna virus encephalitis
annotated target: 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.

sinusitis
type: Class
subclass of: paranasal sinus disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000237
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
has_alternative_id: DOID:2052
has_alternative_id: DOID:9564
database_cross_reference: ICD10CM:J01
database_cross_reference: ICD9CM:461
database_cross_reference: NCI:C128411
database_cross_reference: SNOMEDCT_US_2025_09_01:195649005
database_cross_reference: UMLS_CUI:C0149512
has_obo_namespace: disease_ontology
id: DOID:0050127
in_subset: NCIthesaurus

paranasal sinus disease
type: Class
subclass of: DOID 2825
database_cross_reference: MESH:D010254
database_cross_reference: NCI:C26843
database_cross_reference: SNOMEDCT_US_2025_09_01:7393007
database_cross_reference: UMLS_CUI:C0030469
has_exact_synonym: disorder of nasal sinus
has_obo_namespace: disease_ontology
id: DOID:1352
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001825

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
annotated property: definition
annotated source: sinusitis
annotated target: 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.

secretory diarrhea
type: Class
subclass of: diarrhea
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050129

diarrhea
type: Class
comment: diarrhea is both a disease and a symptom [ms]
subclass of: gastrointestinal system disease
definition: 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.
has_alternative_id: DOID:0050006
database_cross_reference: ICD9CM:009.2
database_cross_reference: MESH:D004403
database_cross_reference: SNOMEDCT_US_2025_09_01:154268000
database_cross_reference: UMLS_CUI:C0013369
has_obo_namespace: disease_ontology
has_related_synonym: diarrhea of presumed infectious origin
has_related_synonym: diarrhoea
id: DOID:13250
in_subset: GOLD

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated property: definition
annotated source: secretory diarrhea
annotated target: 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.

osmotic diarrhea
type: Class
subclass of: diarrhea
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019180
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050130

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated property: definition
annotated source: osmotic diarrhea
annotated target: 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
type: Class
subclass of: diarrhea
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050131

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated property: definition
annotated source: motility-related diarrhea
annotated target: 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
type: Class
subclass of: diarrhea
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050132

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea
annotated property: definition
annotated source: inflammatory diarrhea
annotated target: 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.

superficial mycosis
type: Class
comment: Adding a UMLS CUI for piedra C2980104.
subclass of: fungal infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4751
definition: 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.
has_alternative_id: DOID:13370
database_cross_reference: ICD10CM:B36.9
database_cross_reference: MESH:D010854
database_cross_reference: SNOMEDCT_US_2025_09_01:266218008
database_cross_reference: SNOMEDCT_US_2025_09_01:47382004
database_cross_reference: UMLS_CUI:C0031898
database_cross_reference: UMLS_CUI:C2980104
has_exact_synonym: Steroid-modified tinea infection
has_exact_synonym: piedra
has_obo_namespace: disease_ontology
id: DOID:0050133
in_subset: DO_infectious_disease_slim

fungal infectious disease
type: Class
subclass of: disease by infectious agent
definition: 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.
database_cross_reference: ICD10CM:B49
database_cross_reference: ICD9CM:110-118.99
database_cross_reference: MESH:D009181
database_cross_reference: NCI:C3245
database_cross_reference: SNOMEDCT_US_2025_09_01:154393000
database_cross_reference: UMLS_CUI:C0026946
has_exact_synonym: mycosis
has_obo_namespace: disease_ontology
has_related_synonym: mycoses
id: DOID:1564
in_subset: DO_AGR_slim
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: NCBITaxon 4751

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycoses
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/
annotated property: definition
annotated source: superficial mycosis
annotated target: 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.

cutaneous mycosis
type: Class
subclass of: fungal infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4751
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050134
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycoses
database_cross_reference: url:http://jama.ama-assn.org/cgi/reprint/61/6/407
annotated property: definition
annotated source: cutaneous mycosis
annotated target: 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
type: Class
subclass of: fungal infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4751
subclass of: Restriction
  on property: RO_0004026
  some values from: Class
    union of: UBERON_0000014
    union of: UBERON_0002072
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050135
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses
annotated property: definition
annotated source: subcutaneous mycosis
annotated target: 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
type: Class
subclass of: fungal infectious disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050136
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/
database_cross_reference: url:http://dermnetnz.org/fungal/systemic-mycoses.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006
annotated property: definition
annotated source: systemic mycosis
annotated target: 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
type: Class
subclass of: elephantiasis
definition: 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.
database_cross_reference: MESH:D004604
has_obo_namespace: disease_ontology
id: DOID:0050138

elephantiasis
type: Class
subclass of: lymphedema
definition: 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).
database_cross_reference: MESH:D004604
database_cross_reference: NCI:C34569
database_cross_reference: SNOMEDCT_US_2025_09_01:155485008
database_cross_reference: UMLS_CUI:C0013882
has_obo_namespace: disease_ontology
id: DOID:4976
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Podoconiosis
annotated property: definition
annotated source: podoconiosis
annotated target: 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.

obsolete Opisthorchis felineus infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050139
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Opisthorchis_felineus
annotated property: definition
annotated source: obsolete Opisthorchis felineus infectious disease
annotated target: 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
type: Class
subclass of: diarrhea
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050140

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea
annotated property: definition
annotated source: acute diarrhea
annotated target: 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
type: Class
subclass of: botulism
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000012
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050141
in_subset: DO_infectious_disease_slim

botulism
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_36826
    union of: NCBITaxon_36827
    union of: NCBITaxon_36830
    union of: NCBITaxon_36831
definition: 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.
database_cross_reference: GARD:943
database_cross_reference: ICD10CM:A05.1
database_cross_reference: MESH:D001906
database_cross_reference: NCI:C84599
database_cross_reference: SNOMEDCT_US_2025_09_01:154276003
database_cross_reference: UMLS_CUI:C0006057
has_exact_synonym: Botulism poisoning
has_exact_synonym: Food poisoning due to Clostridium botulinum
has_exact_synonym: Foodborne botulism
has_exact_synonym: Infection due to clostridium botulinum
has_exact_synonym: Intoxication with Clostridium botulinum toxin
has_obo_namespace: disease_ontology
id: DOID:11976
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: gram-positive_bacterial_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs270/en/
database_cross_reference: url:https://jnnp.bmj.com/content/75/suppl_3/iii35
annotated property: definition
annotated source: intestinal botulism
annotated target: 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.

asymptomatic dengue
type: Class
subclass of: dengue disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052464
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050143
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/28107858/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/29111183/
annotated property: definition
annotated source: asymptomatic dengue
annotated target: 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
type: Class
subclass of: primary ciliary dyskinesia
definition: A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
database_cross_reference: GARD:6815
database_cross_reference: MESH:D007619
database_cross_reference: NCI:C84797
database_cross_reference: ORDO:98861
database_cross_reference: SNOMEDCT_US_2021_09_01:42402006
has_exact_synonym: Kartagener's syndrome
has_obo_namespace: disease_ontology
id: DOID:0050144
in_subset: DO_rare_slim
in_subset: NCIthesaurus

primary ciliary dyskinesia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: ciliopathy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000568
definition: 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.
has_alternative_id: DOID:2925
database_cross_reference: GARD:4484
database_cross_reference: MESH:D002925
database_cross_reference: MIM:PS244400
database_cross_reference: NCI:C84638
database_cross_reference: ORDO:244
database_cross_reference: UMLS_CUI:C0008780
has_exact_synonym: ciliary motility disorder
has_exact_synonym: immotile ciliary syndrome
has_obo_namespace: disease_ontology
id: DOID:9562
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19529061
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23243352
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24019633
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25633235
annotated property: definition
annotated source: Kartagener syndrome
annotated target: A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.

adenoiditis
type: Class
subclass of: upper respiratory tract disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000099
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000493
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000716
definition: 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.
has_alternative_id: DOID:13750
database_cross_reference: ICD10CM:J35.02
database_cross_reference: ICD9CM:474.01
database_cross_reference: SNOMEDCT_US_2025_09_01:195794009
database_cross_reference: UMLS_CUI:C0396023
has_exact_synonym: chronic adenoiditis
has_obo_namespace: disease_ontology
id: DOID:0050145

upper respiratory tract disease
type: Class
subclass of: respiratory system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000513
definition: A respiratory system disease which involves the upper respiratory tract.
database_cross_reference: ICD9CM:478.19
database_cross_reference: SNOMEDCT_US_2025_09_01:195823002
database_cross_reference: UMLS_CUI:C0029581
has_obo_namespace: disease_ontology
id: DOID:974
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001557

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoiditis
annotated property: definition
annotated source: adenoiditis
annotated target: 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.

otomycosis
type: Class
subclass of: otitis externa
definition: 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.
database_cross_reference: MESH:D059249
has_exact_synonym: Singapore ear
has_obo_namespace: disease_ontology
id: DOID:0050147

otitis externa
type: Class
subclass of: DOID 379
definition: An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.
has_alternative_id: DOID:9785
database_cross_reference: ICD9CM:380.1
database_cross_reference: NCI:C3299
database_cross_reference: SNOMEDCT_US_2025_09_01:194198006
database_cross_reference: UMLS_CUI:C0021355
has_exact_synonym: swimmer's ear
has_obo_namespace: disease_ontology
id: DOID:9463
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007643
database_cross_reference: url:http://en.wikipedia.org/wiki/Otomycosis
database_cross_reference: url:https://www.merriam-webster.com/medical/otomycosis
annotated property: definition
annotated source: otomycosis
annotated target: 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.

laryngotracheitis
type: Class
subclass of: upper respiratory tract disease
definition: An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
has_alternative_id: DOID:11795
has_alternative_id: DOID:9390
database_cross_reference: ICD10CM:J04
database_cross_reference: ICD10CM:J37.1
database_cross_reference: ICD9CM:464
database_cross_reference: ICD9CM:476.1
database_cross_reference: SNOMEDCT_US_2025_09_01:276443001
database_cross_reference: SNOMEDCT_US_2025_09_01:83271005
database_cross_reference: UMLS_CUI:C0155811
database_cross_reference: UMLS_CUI:C0155837
has_obo_namespace: disease_ontology
id: DOID:0050148

Axiom
dc:type: ECO_0007643
database_cross_reference: url:https://www.merriam-webster.com/medical/laryngotracheitis
annotated property: definition
annotated source: laryngotracheitis
annotated target: 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
type: Class
subclass of: legionellosis
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000008
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
has_obo_namespace: disease_ontology
id: DOID:0050150
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease

legionellosis
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 446
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000008
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000025
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
database_cross_reference: MESH:D007876
database_cross_reference: NCI:C128334
database_cross_reference: SNOMEDCT_US_2025_09_01:26726000
database_cross_reference: UMLS_CUI:C0023240
has_exact_synonym: Legionella infection
has_obo_namespace: disease_ontology
id: DOID:10458
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
in_subset: gram-negative_bacterial_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/legionella/patient_facts.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/623097
annotated property: definition
annotated source: Pontiac fever
annotated target: A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.

obsolete tracheobronchial tuberculosis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050151
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9122509
annotated property: definition
annotated source: obsolete tracheobronchial tuberculosis
annotated target: 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
type: Class
subclass of: bacterial pneumonia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000493
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000603
definition: 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.
database_cross_reference: ICD10CM:J69.0
database_cross_reference: MESH:D011015
database_cross_reference: SNOMEDCT_US_2025_09_01:47839005
database_cross_reference: UMLS_CUI:C0032290
has_obo_namespace: disease_ontology
id: DOID:0050152
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Aspiration_pneumonia
annotated property: definition
annotated source: aspiration pneumonia
annotated target: 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
type: Class
subclass of: aspergillosis
subclass of: lung disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 5052
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002048
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050153
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm
annotated property: definition
annotated source: pulmonary aspergilloma
annotated target: 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
type: Class
definition: A bacterial pneumonia caused by the genus Mycoplasma.
has_obo_namespace: disease_ontology
id: DOID:0050154
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycoplasma
annotated property: definition
annotated source: obsolete mycoplasmal pneumonia
annotated target: A bacterial pneumonia caused by the genus Mycoplasma.

sensory system disease
type: Class
subclass of: nervous system disease
definition: 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).
has_obo_namespace: disease_ontology
id: DOID:0050155
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_FlyBase_slim
in_subset: DO_GXD_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032

nervous system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
database_cross_reference: ICD10CM:G98
database_cross_reference: ICD9CM:349.9
database_cross_reference: MESH:D009422
database_cross_reference: NCI:C26835
database_cross_reference: SNOMEDCT_US_2025_09_01:155262005
database_cross_reference: UMLS_CUI:C0027765
has_obo_namespace: disease_ontology
id: DOID:863
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001016

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system
annotated property: definition
annotated source: sensory system disease
annotated target: 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).

idiopathic pulmonary fibrosis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: pulmonary fibrosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    intersection of: HP_0006530
    intersection of: Restriction
      on property: has material basis in
      some values from: HP_0100699
    intersection of: Restriction
      on property: RO_0004026
      some values from: UBERON_0002048
definition: A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.
database_cross_reference: EFO:0000768
database_cross_reference: GARD:8609
database_cross_reference: ICD10CM:J84.112
database_cross_reference: ICD9CM:516.31
database_cross_reference: MESH:D054990
database_cross_reference: NCI:C35716
database_cross_reference: SNOMEDCT_US_2025_09_01:28168000
database_cross_reference: UMLS_CUI:C1800706
has_exact_synonym: FIBROCYSTIC PULMONARY DYSPLASIA
has_exact_synonym: IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
has_exact_synonym: cryptogenic fibrosing alveolitis
has_obo_namespace: disease_ontology
id: DOID:0050156
in_subset: DO_rare_slim
in_subset: NCIthesaurus

autosomal dominant disease
type: Class
subclass of: autosomal genetic disease
definition: 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.
creation_date: 2012-07-24T12:51:47Z
has_obo_namespace: disease_ontology
id: DOID:0050736
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000147

pulmonary fibrosis
type: Class
subclass of: DOID 3082
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    intersection of: HP_0006530
    intersection of: Restriction
      on property: has material basis in
      some values from: HP_0100699
    intersection of: Restriction
      on property: RO_0004026
      some values from: UBERON_0002048
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000686
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
database_cross_reference: MESH:D011658
database_cross_reference: NCI:C26869
database_cross_reference: SNOMEDCT_US_2025_09_01:155613001
database_cross_reference: UMLS_CUI:C0034069
has_exact_synonym: Fibrosis of lung
has_obo_namespace: disease_ontology
id: DOID:3770
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/32855221/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK448162/
database_cross_reference: url:https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis
database_cross_reference: url:https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf
annotated property: definition
annotated source: idiopathic pulmonary fibrosis
annotated target: A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.

cryptogenic organizing pneumonia
type: Class
subclass of: idiopathic interstitial pneumonia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000178
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
definition: 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.
has_alternative_id: DOID:2798
database_cross_reference: GARD:1620
database_cross_reference: ICD10CM:J84.116
database_cross_reference: ICD9CM:516.36
database_cross_reference: MESH:D018549
database_cross_reference: NCI:C62586
database_cross_reference: SNOMEDCT_US_2025_09_01:129458007
database_cross_reference: UMLS_CUI:C0242770
has_exact_synonym: BOOP
has_exact_synonym: Cryptogenic organising pneumonitis
has_exact_synonym: Cryptogenic organizing pneumonitis
has_exact_synonym: bronchiolitis obliterans organising pneumonia
has_exact_synonym: bronchiolitis obliterans organizing pneumonia
has_exact_synonym: cryptogenic organising pneumonia
has_exact_synonym: idiopathic bronchiolitis obliterans with organising pneumonia
has_exact_synonym: idiopathic bronchiolitis obliterans with organizing pneumonia
has_obo_namespace: disease_ontology
id: DOID:0050157
in_subset: DO_rare_slim
in_subset: NCIthesaurus

idiopathic interstitial pneumonia
type: Class
subclass of: pneumonia
subclass of: Restriction
  on property: RO_0004029
  some values from: pneumonia
definition: A pneumonia located_in the lung parenchyma of unknown cause.
database_cross_reference: ICD10CM:J84.114
database_cross_reference: ICD9CM:516.33
database_cross_reference: MESH:D000080203
database_cross_reference: NCI:C35806
database_cross_reference: SNOMEDCT_US_2025_09_01:129459004
database_cross_reference: UMLS_CUI:C0085786
has_exact_synonym: Diffuse idiopathic pulmonary fibrosis
has_exact_synonym: Idiopathic fibrosing alveolitis
has_obo_namespace: disease_ontology
has_related_synonym: IPF
id: DOID:2797
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11790668
annotated property: definition
annotated source: cryptogenic organizing pneumonia
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: cryptogenic organizing pneumonia
annotated target: BOOP

desquamative interstitial pneumonia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: idiopathic interstitial pneumonia
definition: 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.
has_alternative_id: DOID:2796
database_cross_reference: ICD10CM:J84.117
database_cross_reference: ICD9CM:516.37
database_cross_reference: MESH:C562470
database_cross_reference: MIM:263000
database_cross_reference: NCI:C35288
database_cross_reference: SNOMEDCT_US_2025_09_01:8549006
database_cross_reference: UMLS_CUI:C0238378
has_exact_synonym: RBILD
has_exact_synonym: familial desquamative interstitial pneumonitis
has_exact_synonym: respiratory bronchiolitis-associated interstitial lung disease
has_obo_namespace: disease_ontology
id: DOID:0050158
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11790668
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16142185
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16456642
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23001799
annotated property: definition
annotated source: desquamative interstitial pneumonia
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: desquamative interstitial pneumonia
annotated target: RBILD

lymphoid interstitial pneumonia
type: Class
subclass of: idiopathic interstitial pneumonia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
definition: 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.
database_cross_reference: MESH:C562489
has_obo_namespace: disease_ontology
id: DOID:0050159

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11790668
annotated property: definition
annotated source: lymphoid interstitial pneumonia
annotated target: 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
type: Class
subclass of: anthrax disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000187
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000879
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019153
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020031
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020055
definition: 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.
database_cross_reference: MESH:C571912
has_exact_synonym: pulmonary anthrax
has_exact_synonym: respiratory anthrax
has_exact_synonym: wool-sorters' disease
has_exact_synonym: woolsorters' disease
has_obo_namespace: disease_ontology
id: DOID:0050160
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

anthrax disease
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 1392
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: TRANS_0000007
    union of: TRANS_0000009
    union of: TRANS_0000012
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000136
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000421
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000639
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019153
definition: 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.
database_cross_reference: GARD:8157
database_cross_reference: ICD10CM:A22
database_cross_reference: ICD9CM:022
database_cross_reference: MESH:D000881
database_cross_reference: NCI:C84565
database_cross_reference: SNOMEDCT_US_2025_09_01:154295005
database_cross_reference: UMLS_CUI:C0003175
has_obo_namespace: disease_ontology
id: DOID:7427
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:https://medlineplus.gov/ency/article/001325.htm
database_cross_reference: url:https://www.cdc.gov/anthrax/basics/types/index.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11988441
annotated property: definition
annotated source: inhalation anthrax
annotated target: 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.

lower respiratory tract disease
type: Class
subclass of: respiratory system disease
definition: A respiratory system disease which involves the lower respiratory tract.
database_cross_reference: ICD9CM:478.19
database_cross_reference: SNOMEDCT_US_2025_09_01:195823002
database_cross_reference: UMLS_CUI:C0029581
has_obo_namespace: disease_ontology
id: DOID:0050161
in_subset: DO_RAD_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001558

respiratory system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
has_alternative_id: DOID:3226
database_cross_reference: ICD10CM:J98
database_cross_reference: ICD9CM:519
database_cross_reference: SNOMEDCT_US_2025_09_01:155603009
database_cross_reference: UMLS_CUI:C0029582
has_obo_namespace: disease_ontology
id: DOID:1579
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: DO_RAD_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001004

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/lower_respiratory_tract
annotated property: definition
annotated source: lower respiratory tract disease
annotated target: A respiratory system disease which involves the lower respiratory tract.

obsolete influenza encephalopathy
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050162
owl:deprecated: true

obsolete influenza myocarditis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050163
owl:deprecated: true

obsolete influenza myositis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050164
owl:deprecated: true

obsolete tuberculous mesenteric gland
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050165
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

Axiom
annotated property: definition
annotated source: obsolete tuberculous mesenteric gland
annotated target: 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
type: Class
subclass of: fallopian tube disease
subclass of: urogenital tuberculosis
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0003889
definition: An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.
database_cross_reference: ICD10CM:A18.17
database_cross_reference: ICD9CM:016.6
database_cross_reference: SNOMEDCT_US_2025_09_01:186242002
database_cross_reference: UMLS_CUI:C0152828
has_obo_namespace: disease_ontology
id: DOID:0050166
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease

fallopian tube disease
type: Class
subclass of: female reproductive system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A female reproductive system disease that is located_in the fallopian tube.
database_cross_reference: MESH:D005184
database_cross_reference: NCI:C26771
database_cross_reference: SNOMEDCT_US_2025_09_01:128134005
database_cross_reference: UMLS_CUI:C0015556
has_obo_namespace: disease_ontology
id: DOID:1962
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0003889

urogenital tuberculosis
type: Class
subclass of: extrapulmonary tuberculosis
definition: An extrapulmonary tuberculosis that is located_in urogenital system.
database_cross_reference: ICD10CM:A18.1
database_cross_reference: ICD9CM:016
database_cross_reference: MESH:D014401
database_cross_reference: SNOMEDCT_US_2025_09_01:4445009
database_cross_reference: UMLS_CUI:C0041333
has_obo_namespace: disease_ontology
has_related_synonym: Genitourinary tuberculosis
id: DOID:2149
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease

Axiom
dc:type: ECO_0007646
annotated property: definition
annotated source: tuberculous salpingitis
annotated target: An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube.

autoimmune polyendocrine syndrome type 1
type: Class
subclass of: autoimmune polyendocrine syndrome
definition: 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.
database_cross_reference: GARD:8466
database_cross_reference: MIM:240300
has_exact_synonym: Autoimmune Polyglandular Syndrome I
has_exact_synonym: Whitaker syndrome
has_exact_synonym: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050167
in_subset: DO_rare_slim

autoimmune polyendocrine syndrome
type: Class
subclass of: autoimmune disease of endocrine system
definition: An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
database_cross_reference: ICD10CM:E31.0
database_cross_reference: MESH:D016884
database_cross_reference: NCI:C84576
database_cross_reference: SNOMEDCT_US_2025_09_01:41864002
database_cross_reference: UMLS_CUI:C0085409
has_exact_synonym: Autoimmune polyglandular failure
has_exact_synonym: Lloyd's syndrome
has_exact_synonym: autoimmune polyendocrinopathy
has_obo_namespace: disease_ontology
id: DOID:14040
in_subset: NCIthesaurus

Axiom
comment: sn:IEDB
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1
annotated property: definition
annotated source: autoimmune polyendocrine syndrome type 1
annotated target: 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 polyendocrine syndrome type 2
type: Class
subclass of: autoimmune polyendocrine syndrome
definition: 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.
database_cross_reference: GARD:7611
database_cross_reference: MIM:269200
has_exact_synonym: Schmidt syndrome
has_obo_namespace: disease_ontology
id: DOID:0050168
in_subset: DO_rare_slim

Axiom
comment: sn:IEDB
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2
annotated property: definition
annotated source: autoimmune polyendocrine syndrome type 2
annotated target: 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.

cutaneous lupus erythematosus
type: Class
subclass of: lupus erythematosus
subclass of: skin disease
definition: A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
database_cross_reference: GARD:6225
has_obo_namespace: disease_ontology
id: DOID:0050169
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: lupus erythematosus
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014

Axiom
comment: sn:IEDB
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/
annotated property: definition
annotated source: cutaneous lupus erythematosus
annotated target: A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.

obsolete Jamestown Canyon encephalitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050170
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10451169
annotated property: definition
annotated source: obsolete Jamestown Canyon encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050171
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php
annotated property: definition
annotated source: obsolete snowshoe hare encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050172
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false
database_cross_reference: url:http://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS,ARBOVIRAL_CD.pdf
database_cross_reference: url:http://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10025535
annotated property: definition
annotated source: obsolete trivittatus encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050173
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10025535
database_cross_reference: url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf
database_cross_reference: url:http://en.wikipedia.org/wiki/California_encephalitis_virus
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/8760424
annotated property: definition
annotated source: obsolete inkoo encephalitis
annotated target: 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
type: Class
subclass of: West Nile encephalitis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11077
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_162997
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000016
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000075
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050174
in_subset: DO_infectious_disease_slim

West Nile encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3048448
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: NCBITaxon 7158
    union of: NCBITaxon 7164
    union of: NCBITaxon 7174
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000016
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000023
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000030
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000162
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000383
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000389
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000435
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000596
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000605
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000882
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000955
definition: 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.
database_cross_reference: GARD:9959
database_cross_reference: ICD10CM:A92.31
database_cross_reference: ICD9CM:066.41
database_cross_reference: MESH:D014901
database_cross_reference: SNOMEDCT_US_2025_09_01:392662004
database_cross_reference: UMLS_CUI:C0751583
has_exact_synonym: West Nile Fever with encephalitis
has_exact_synonym: West Nile fever encephalitis
has_obo_namespace: disease_ontology
id: DOID:2365
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/2552010/
database_cross_reference: url:https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx
annotated property: definition
annotated source: Kunjin encephalitis
annotated target: 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.

tick-borne encephalitis
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052465
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon 6944
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000016
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000030
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000765
definition: 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.
has_alternative_id: DOID:0050176
has_alternative_id: DOID:10251
has_alternative_id: DOID:10252
database_cross_reference: GARD:5216
database_cross_reference: ICD10CM:A84.1
database_cross_reference: ICD9CM:063.2
database_cross_reference: MESH:D004675
database_cross_reference: SNOMEDCT_US_2025_09_01:16901001
database_cross_reference: UMLS_CUI:C0014054
has_exact_synonym: Central European encephalitis
has_exact_synonym: Far Eastern TBE
has_exact_synonym: Russian spring-summer encephalitis
has_exact_synonym: Siberian tick-borne encephalitis
has_exact_synonym: Taiga encephalitis
has_exact_synonym: Western European tick-borne encephalitis
has_exact_synonym: west-Siberian encephalitis
has_obo_namespace: disease_ontology
id: DOID:0050175
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: tick-borne_infectious_disease

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://en.wikipedia.org/wiki/Tick-borne_encephalitis
database_cross_reference: url:https://www.cdc.gov/tick-borne-encephalitis/about/
database_cross_reference: url:https://www.ecdc.europa.eu/en/tick-borne-encephalitis
annotated property: definition
annotated source: tick-borne encephalitis
annotated target: 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.

monogenic disease
type: Class
subclass of: genetic disease
definition: A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
has_obo_namespace: disease_ontology
id: DOID:0050177
in_subset: DO_AGR_slim
in_subset: DO_GXD_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004019
    some values from: SO_0000704

genetic disease
type: Class
subclass of: disease
definition: A disease that has_material_basis_in genetic variations in the human genome.
database_cross_reference: MESH:D030342
database_cross_reference: NCI:C3101
database_cross_reference: SNOMEDCT_US_2025_09_01:32895009
database_cross_reference: UMLS_CUI:C0019247
has_obo_namespace: disease_ontology
id: DOID:630
in_subset: DO_CFDE_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004019
    some values from: SO_0001537

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders
annotated property: definition
annotated source: monogenic disease
annotated target: A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.

obsolete complex genetic disease
type: Class
definition: 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).
has_obo_namespace: disease_ontology
id: DOID:0050178
owl:deprecated: true

Axiom
database_cross_reference: DO:wk
annotated property: definition
annotated source: obsolete complex genetic disease
annotated target: 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
type: Class
subclass of: viral infectious disease
subclass of: Class
  union of: Restriction
    on property: RO_0002451
    some values from: NCBITaxon_34619
  union of: Restriction
    on property: RO_0002451
    some values from: NCBITaxon 6944
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3048287
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000016
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000030
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000124
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000162
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000383
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000605
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050179
in_subset: DO_infectious_disease_slim
in_subset: tick-borne_infectious_disease

Axiom
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9494578/
database_cross_reference: url:https://www.cdc.gov/powassan/about/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/articles/PMC5732952/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK570599/
annotated property: definition
annotated source: Powassan encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050180
in_subset: tick-borne_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/2838146
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/13894744
annotated property: definition
annotated source: obsolete Colorado tick fever encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050181
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm
annotated property: definition
annotated source: obsolete Herpes simplex virus encephalitis
annotated target: 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
type: Class
definition: 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.
has_alternative_id: DOID:8698
has_exact_synonym: Herpes zoster encephalitis
has_exact_synonym: Postchickenpox encephalitis
has_exact_synonym: Varicella Zoster Encephalitis
has_exact_synonym: postvaricella encephalitis
has_obo_namespace: disease_ontology
id: DOID:0050182
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6273449
annotated property: definition
annotated source: obsolete Varicella-zoster virus encephalitis
annotated target: 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.

obsolete Epstein-Barr virus encephalitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050183
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.aafp.org/afp/20000201/letters.html
database_cross_reference: url:http://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm
annotated property: definition
annotated source: obsolete Epstein-Barr virus encephalitis
annotated target: 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
type: Class
definition: 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.
has_alternative_id: DOID:9127
has_exact_synonym: Post measles encephalitis (disorder)
has_exact_synonym: Post-measles encephalitis
has_exact_synonym: postmeasles encephalitis
has_obo_namespace: disease_ontology
id: DOID:0050184
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html
database_cross_reference: url:http://www.springerlink.com/content/2020124072032058/
annotated property: definition
annotated source: obsolete Measles virus encephalitis
annotated target: 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.

erythema multiforme
type: Class
subclass of: skin disease
subclass of: allergic disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000900
definition: A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
database_cross_reference: GARD:6372
database_cross_reference: MESH:D004892
has_obo_namespace: disease_ontology
id: DOID:0050185
in_subset: DO_rare_slim

allergic disease
type: Class
subclass of: immune system disease
definition: 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.
OBI_9991118: allergic disease
database_cross_reference: ICD10CM:T78.40
database_cross_reference: MESH:D006967
database_cross_reference: NCI:C3114
database_cross_reference: SNOMEDCT_US_2025_09_01:257550005
database_cross_reference: UMLS_CUI:C0020517
has_exact_synonym: allergic hypersensitivity disease
has_exact_synonym: hypersensitivity
has_exact_synonym: hypersensitivity reaction type I disease
has_obo_namespace: disease_ontology
id: DOID:1205
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0002452
    some values from: SYMP_0000900

Axiom
dc:type: ECO_0007640
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm
annotated property: definition
annotated source: erythema multiforme
annotated target: A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.

obsolete Cytomegalovirus encephalitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050186
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8815757
annotated property: definition
annotated source: obsolete Cytomegalovirus encephalitis
annotated target: 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
type: Class
definition: 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.
has_alternative_id: DOID:9231
has_obo_namespace: disease_ontology
id: DOID:0050187
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/13489263
annotated property: definition
annotated source: obsolete Rubella virus encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050188
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14464001
annotated property: definition
annotated source: obsolete coxsackievirus encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050189
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/13436875
annotated property: definition
annotated source: obsolete polioencephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050190
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://cid.oxfordjournals.org/content/31/3/830.full
database_cross_reference: url:http://www.medscape.com/viewarticle/414625
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15560392
annotated property: definition
annotated source: obsolete adenovirus encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050191
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/2053792
annotated property: definition
annotated source: obsolete influenza virus encephalitis
annotated target: 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
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052225
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000023
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000482
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000605
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000610
definition: 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.
database_cross_reference: MESH:D045464
database_cross_reference: SNOMEDCT_US_2025_09_01:721791005
database_cross_reference: UMLS_CUI:C4303115
has_obo_namespace: disease_ontology
id: DOID:0050192
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease
has broader match: ORDO:99825
has broader match: SNOMEDCT_US_2025_05_01:406597005
has broader match: UMLS_CUI:C1320202

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9345211/
database_cross_reference: url:https://www.cdc.gov/nipah-virus/about/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK570576/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19141846
database_cross_reference: url:https://www.who.int/csr/disease/nipah/en/
annotated property: definition
annotated source: Nipah virus encephalitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050193
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm
annotated property: definition
annotated source: obsolete Lymphocytic choriomeningitis virus encephalitis
annotated target: 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
type: Class
subclass of: Arenaviridae infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_2169991
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_56212
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000114
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019176
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020060
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050194
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Arenaviridae infectious disease
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses.
has_obo_namespace: disease_ontology
id: DOID:3944
in_subset: DO_infectious_disease_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_11617

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever
database_cross_reference: url:http://www.jstor.org/stable/30129873?seq=1
annotated property: definition
annotated source: Argentine hemorrhagic fever
annotated target: 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.

Bolivian hemorrhagic fever
type: Class
subclass of: Arenaviridae infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052317
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_56210
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000739
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000867
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050195
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm
annotated property: definition
annotated source: Bolivian hemorrhagic fever
annotated target: 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
type: Class
subclass of: Arenaviridae infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052307
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: NCBITaxon_134742
    union of: NCBITaxon_157541
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000323
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000448
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000460
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000523
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000596
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000742
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000756
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019147
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020055
definition: 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.
database_cross_reference: ORDO:319234
has_obo_namespace: disease_ontology
id: DOID:0050196
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: zoonotic_infectious_disease

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/34917387/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/7840443/
annotated property: definition
annotated source: Venezuelan hemorrhagic fever
annotated target: 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
type: Class
subclass of: Arenaviridae infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052299
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000446
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000610
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050197
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7905555
annotated property: definition
annotated source: Brazilian hemorrhagic fever
annotated target: 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
type: Class
subclass of: Arenaviridae infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052302
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000450
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050198
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377
annotated property: definition
annotated source: Chapare hemorrhagic fever
annotated target: 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
type: Class
subclass of: Arenaviridae infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052331
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_42408
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000041
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050199
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://jama.ama-assn.org/cgi/content/full/284/10/1237
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/1799746
annotated property: definition
annotated source: Whitewater Arroyo hemorrhagic fever
annotated target: 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
type: Class
subclass of: Hantavirus hemorrhagic fever with renal syndrome
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: NCBITaxon_10116
    union of: NCBITaxon_39030
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000006
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000059
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000446
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000450
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000457
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000511
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000692
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050200
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Hantavirus hemorrhagic fever with renal syndrome
type: Class
subclass of: kidney disease
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_3052477
    union of: NCBITaxon_3052480
    union of: NCBITaxon_3052493
    union of: NCBITaxon_3052498
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0000083
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000367
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000731
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000760
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002113
definition: 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.
database_cross_reference: GARD:18689
database_cross_reference: ICD10CM:A98.5
database_cross_reference: ICD9CM:078.6
database_cross_reference: MESH:D006480
database_cross_reference: NCI:C84753
database_cross_reference: ORDO:340
database_cross_reference: SNOMEDCT_US_2025_09_01:186701001
database_cross_reference: UMLS_CUI:C0019101
has_exact_synonym: HFRS
has_exact_synonym: Hemorrhagic fever, Russian
has_exact_synonym: Hemorrhagic nephrosonephritis
has_exact_synonym: Puumala virus nephropathy
has_exact_synonym: hemorrhagic fever renal syndrome
has_obo_namespace: disease_ontology
id: DOID:11266
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: zoonotic_infectious_disease
has related match: MESH:C535630
has related match: UMLS_CUI:C2930957

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1349231
annotated property: definition
annotated source: Korean hemorrhagic fever
annotated target: 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.

nephropathia epidemica
type: Class
subclass of: Hantavirus hemorrhagic fever with renal syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052493
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_447135
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000006
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000041
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000457
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000731
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050201
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1349231
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2574903
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2902106
annotated property: definition
annotated source: nephropathia epidemica
annotated target: 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
type: Class
subclass of: Arenaviridae infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052314
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000114
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
definition: 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.
database_cross_reference: GARD:21410
database_cross_reference: MESH:C000723471
database_cross_reference: ORDO:319213
database_cross_reference: SNOMEDCT_US_2025_09_01:716585008
database_cross_reference: UMLS_CUI:C4274433
has_obo_namespace: disease_ontology
id: DOID:0050202
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: zoonotic_infectious_disease
has broader match: ICD10CM:A96.8

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Lujo_virus
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC2866397/
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC4230886/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19478873/
database_cross_reference: url:https://www.cdc.gov/lujo-fever/about/index.html
annotated property: definition
annotated source: Lujo hemorrhagic fever
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050203
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Cytomegalovirus
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/11380800
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/4300216
annotated property: definition
annotated source: obsolete Cytomegalovirus hepatitis
annotated target: 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
type: Class
subclass of: viral hepatitis
subclass of: Epstein-Barr virus infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3050299
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000125
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000457
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000539
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050204
in_subset: DO_FlyBase_slim
in_subset: DO_infectious_disease_slim

viral hepatitis
type: Class
subclass of: viral infectious disease
subclass of: DOID 2237
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_10239
definition: A hepatitis that involves viral infection causing inflammation of the liver.
has_alternative_id: DOID:12548
has_alternative_id: DOID:1331
has_alternative_id: DOID:1885
database_cross_reference: MESH:D006524
database_cross_reference: UMLS_CUI:C0019194
has_exact_synonym: Viral hepatitis with hepatic coma
has_exact_synonym: animal viral hepatitis
has_exact_synonym: human viral hepatitis
has_obo_namespace: disease_ontology
id: DOID:1884
in_subset: DO_infectious_disease_slim

Epstein-Barr virus infectious disease
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).
database_cross_reference: MESH:D020031
database_cross_reference: NCI:C38759
database_cross_reference: SNOMEDCT_US_2025_09_01:402121009
database_cross_reference: UMLS_CUI:C0149678
has_exact_synonym: EBV Infection
has_exact_synonym: Epstein-Barr virus infection
has_obo_namespace: disease_ontology
id: DOID:2938
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_3050299

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16711324
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17602362
annotated property: definition
annotated source: Epstein-Barr virus hepatitis
annotated target: 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.

obsolete Herpes simplex virus hepatitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050205
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://jcp.bmj.com/content/46/10/968.full.pdf
database_cross_reference: url:http://www.jstor.org/stable/20396832
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16597901
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7006542
annotated property: definition
annotated source: obsolete Herpes simplex virus hepatitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050206
owl:deprecated: true

obsolete Rubella virus hepatitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050207
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7550869
annotated property: definition
annotated source: obsolete Rubella virus hepatitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050208
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false
annotated property: definition
annotated source: obsolete yellow fever hepatitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050209
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17068034
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3417236
annotated property: definition
annotated source: obsolete Measles virus hepatitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050210
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16944014
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/8092915
annotated property: definition
annotated source: obsolete Varicella-zoster virus hepatitis
annotated target: 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
type: Class
subclass of: influenza
subclass of: Class
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_2955291
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_2955935
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000075
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000372
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020055
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050211
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

influenza
type: Class
subclass of: viral infectious disease
subclass of: respiratory system disease
subclass of: Class
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_197911
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_197912
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_197913
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000008
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000130
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000372
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020055
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_614680
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001004
definition: 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.
has_alternative_id: DOID:8468
database_cross_reference: ICD10CM:J11.1
database_cross_reference: ICD9CM:487
database_cross_reference: MESH:D007251
database_cross_reference: NCI:C53482
database_cross_reference: SNOMEDCT_US_2025_09_01:155559006
database_cross_reference: UMLS_CUI:C0021400
has_exact_synonym: Influenza with other manifestations
has_exact_synonym: flu
has_exact_synonym: influenza with non-respiratory manifestation
has_obo_namespace: disease_ontology
id: DOID:8469
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://www.cdc.gov/swine-flu/about/index.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9140195
annotated property: definition
annotated source: swine influenza
annotated target: 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.

obsolete Campylobacter jejuni gastroenteritis
type: Class
definition: 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.
has_exact_synonym: Campylobacter Gastroenteritis
has_obo_namespace: disease_ontology
id: DOID:0050212
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17846438
annotated property: definition
annotated source: obsolete Campylobacter jejuni gastroenteritis
annotated target: 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.

obsolete Vibrio gastroenteritis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050213
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/30113106.pdf
database_cross_reference: url:http://www.merck.com/mmpe/sec02/ch016/ch016a.html
annotated property: definition
annotated source: obsolete Vibrio gastroenteritis
annotated target: 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
type: Class
subclass of: autoimmune disease of peripheral nervous system
subclass of: autoimmune disease of musculoskeletal system
subclass of: neuromuscular junction disease
subclass of: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204
definition: 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.
database_cross_reference: ICD10CM:G70.80
database_cross_reference: ICD9CM:358.3
database_cross_reference: MESH:D015624
database_cross_reference: NCI:C3155
database_cross_reference: SNOMEDCT_US_2025_09_01:230688006
database_cross_reference: UMLS_CUI:C0022972
has_exact_synonym: Eaton-Lambert syndrome
has_exact_synonym: LEMS
has_exact_synonym: Lambert-Eaton syndrome
has_obo_namespace: disease_ontology
id: DOID:0050214
in_subset: NCIthesaurus

autoimmune disease of musculoskeletal system
type: Class
subclass of: autoimmune disease
subclass of: musculoskeletal system disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060032
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204

neuromuscular junction disease
type: Class
subclass of: DOID 440
definition: A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
database_cross_reference: MESH:D020511
database_cross_reference: SNOMEDCT_US_2025_09_01:128213006
database_cross_reference: UMLS_CUI:C0751950
has_obo_namespace: disease_ontology
id: DOID:439

autoimmune disease
type: Class
comment: Xref MGI.
subclass of: immune system disease
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_607836
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_608391
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_608392
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_609400
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_613551
definition: 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.
OBI_9991118: autoimmune disease
database_cross_reference: ICD9CM:720
database_cross_reference: MIM:109100
database_cross_reference: UMLS_CUI:C0003089
has_exact_synonym: autoimmune hypersensitivity disease
has_exact_synonym: hypersensitivity reaction type II disease
has_obo_namespace: disease_ontology
id: DOID:417

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome
annotated property: definition
annotated source: Lambert-Eaton myasthenic syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Lambert-Eaton myasthenic syndrome
annotated target: LEMS

obsolete Staphylococcus gastroenteritis
type: Class
definition: 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.
has_exact_synonym: Staphylococcus Aureus Gastroenteritis
has_obo_namespace: disease_ontology
id: DOID:0050215
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.merck.com/mmhe/sec09/ch122/ch122c.html
annotated property: definition
annotated source: obsolete Staphylococcus gastroenteritis
annotated target: 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.

obsolete Bacillus cereus gastroenteritis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050216
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/30112755.pdf
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8501338
annotated property: definition
annotated source: obsolete Bacillus cereus gastroenteritis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050217
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm
database_cross_reference: url:http://www0.nih.go.jp/JJID/61/438.pdf
annotated property: definition
annotated source: obsolete Sapovirus gastroenteritis
annotated target: 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
type: Class
subclass of: echinococcosis
subclass of: liver disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002107
definition: An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.
has_exact_synonym: human polycystic hydatid disease
has_exact_synonym: neotropical echinococcosis
has_obo_namespace: disease_ontology
id: DOID:0050218
in_subset: DO_infectious_disease_slim

echinococcosis
type: Class
subclass of: parasitic helminthiasis infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 6209
definition: 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.
has_alternative_id: DOID:12149
has_alternative_id: DOID:2783
database_cross_reference: ICD10CM:B67
database_cross_reference: ICD9CM:122
database_cross_reference: MESH:D004443
database_cross_reference: NCI:C84682
database_cross_reference: SNOMEDCT_US_2025_09_01:154414008
database_cross_reference: UMLS_CUI:C0013502
has_exact_synonym: Echinococcosis of liver
has_exact_synonym: echinococcal disease
has_exact_synonym: hepatic echinococcosis
has_exact_synonym: hydatid disease
has_exact_synonym: hydatidosis
has_exact_synonym: liver echinococcus
has_exact_synonym: pulmonary echinococcosis
has_obo_namespace: disease_ontology
id: DOID:1496
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

liver disease
type: Class
subclass of: DOID 3118
has_alternative_id: DOID:2164
has_alternative_id: DOID:2165
has_alternative_id: DOID:46
database_cross_reference: ICD10CM:K76.9
database_cross_reference: ICD9CM:573.9
database_cross_reference: MESH:D008107
database_cross_reference: NCI:C3196
database_cross_reference: SNOMEDCT_US_2025_09_01:62857009
database_cross_reference: UMLS_CUI:C0023895
has_exact_synonym: disorder of liver
has_exact_synonym: hepatic disorder
has_obo_namespace: disease_ontology
id: DOID:409
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002107

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Echinococcosis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm
annotated property: definition
annotated source: polycystic echinococcosis
annotated target: An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.

obsolete Hepeviridae infectious disease
type: Class
definition: A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
has_obo_namespace: disease_ontology
id: DOID:0050219
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hepeviridae
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/41.html
annotated property: definition
annotated source: obsolete Hepeviridae infectious disease
annotated target: 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
type: Class
definition: 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.
has_exact_synonym: Q fever pneumonia
has_obo_namespace: disease_ontology
id: DOID:0050220
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Q_fever
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15021054
annotated property: definition
annotated source: obsolete Coxiella burnetii pneumonia
annotated target: 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.

obsolete Coxiella burnetii hepatitis
type: Class
definition: 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.
has_exact_synonym: Q fever hepatitis
has_obo_namespace: disease_ontology
id: DOID:0050221
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.merck.com/mmpe/sec14/ch177/ch177i.html
annotated property: definition
annotated source: obsolete Coxiella burnetii hepatitis
annotated target: 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.

selective IgM deficiency disease
type: Class
subclass of: dysgammaglobulinemia
definition: A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
has_obo_namespace: disease_ontology
id: DOID:0050222

dysgammaglobulinemia
type: Class
subclass of: DOID 6025
definition: A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
database_cross_reference: MESH:D004406
database_cross_reference: SNOMEDCT_US_2025_09_01:127389001
database_cross_reference: UMLS_CUI:C0013374
has_obo_namespace: disease_ontology
id: DOID:11702

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/IgM
database_cross_reference: url:http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency
annotated property: definition
annotated source: selective IgM deficiency disease
annotated target: A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.

obsolete candidal gastritis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050223
owl:deprecated: true

obsolete Helicobacter heilmannii infectious disease
type: Class
definition: A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration.
has_obo_namespace: disease_ontology
id: DOID:0050224
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10349993
annotated property: definition
annotated source: obsolete Helicobacter heilmannii infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050225
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16377536
annotated property: definition
annotated source: obsolete Histoplasma capsulatum gastritis
annotated target: 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
type: Class
definition: An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.
has_obo_namespace: disease_ontology
id: DOID:0050226
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/17180585
annotated property: definition
annotated source: obsolete Morganella morganii intestinal infectious disease
annotated target: An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii.

obsolete Vibrio cholerae O139 cholera
type: Class
definition: A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.
has_obo_namespace: disease_ontology
id: DOID:0050227
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent
annotated property: definition
annotated source: obsolete Vibrio cholerae O139 cholera
annotated target: A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain.

obsolete amebic dysentery
type: Class
definition: 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.
has_exact_synonym: Entamoeba histolytica dysentery
has_exact_synonym: amebic dysentery
has_exact_synonym: amoebic dysentery
has_obo_namespace: disease_ontology
id: DOID:0050228
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html
annotated property: definition
annotated source: obsolete amebic dysentery
annotated target: 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.

obsolete Escherichia coli dysentery
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050229
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://emedicine.medscape.com/article/217485-overview
database_cross_reference: url:http://www.jstor.org/stable/pdfplus/30112505.pdf
annotated property: definition
annotated source: obsolete Escherichia coli dysentery
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050230
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Intestinal_capillariasis
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm
annotated property: definition
annotated source: obsolete intestinal capillariasis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050231
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm
database_cross_reference: url:http://en.wikipedia.org/wiki/Capillaria_hepatica
annotated property: definition
annotated source: obsolete hepatic capillariasis
annotated target: 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
type: Class
definition: A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.
has_obo_namespace: disease_ontology
id: DOID:0050232
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm
annotated property: definition
annotated source: obsolete pulmonary capillariasis
annotated target: A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia.

obsolete Balamuthia mandrillaris infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050233
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm
annotated property: definition
annotated source: obsolete Balamuthia mandrillaris infectious disease
annotated target: 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
type: Class
definition: 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.
has_alternative_id: DOID:11334
has_exact_synonym: free-living ameba infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050234
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Acanthamoeba
annotated property: definition
annotated source: obsolete Acanthamoeba infectious disease
annotated target: 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.

obsolete Alveolata infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.
has_obo_namespace: disease_ontology
id: DOID:0050235
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Alveolata
annotated property: definition
annotated source: obsolete Alveolata infectious disease
annotated target: A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes.

obsolete Heterolobosea infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050236
owl:deprecated: true

Axiom
database_cross_reference: url:http://tolweb.org/Heterolobosea/96360
annotated property: definition
annotated source: obsolete Heterolobosea infectious disease
annotated target: 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
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.
has_obo_namespace: disease_ontology
id: DOID:0050237
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Euglenozoa
annotated property: definition
annotated source: obsolete Euglenozoa infectious disease
annotated target: A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates.

obsolete Parabasalia infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.
has_obo_namespace: disease_ontology
id: DOID:0050238
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Parabasalid
annotated property: definition
annotated source: obsolete Parabasalia infectious disease
annotated target: A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans.

obsolete Fornicata infectious disease
type: Class
definition: A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.
has_obo_namespace: disease_ontology
id: DOID:0050239
owl:deprecated: true

Axiom
database_cross_reference: url:http://tolweb.org/Fornicata/121182
annotated property: definition
annotated source: obsolete Fornicata infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050240
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Trichomonad
annotated property: definition
annotated source: obsolete Trichomonadida infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050241
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/20093080
annotated property: definition
annotated source: obsolete Tritrichomonadida infectious disease
annotated target: 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
type: Class
subclass of: parasitic protozoa infectious disease
subclass of: central nervous system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000021
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000124
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000605
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
definition: 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.
database_cross_reference: GARD:9554
has_exact_synonym: Naegleria fowleri infection
has_obo_namespace: disease_ontology
id: DOID:0050242
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: parasitic protozoa infectious disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017

parasitic protozoa infectious disease
type: Class
subclass of: parasitic infectious disease
definition: A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
has_alternative_id: DOID:0060003
has_alternative_id: DOID:10553
has_alternative_id: DOID:3734
has_alternative_id: DOID:3804
has_alternative_id: DOID:947
database_cross_reference: ICD10CM:B64
database_cross_reference: MESH:D011528
database_cross_reference: NCI:C34953
database_cross_reference: SNOMEDCT_US_2025_09_01:95896000
database_cross_reference: UMLS_CUI:C0033740
has_exact_synonym: mastigophora infectious disease
has_exact_synonym: sarcomastigophora infectious disease
has_obo_namespace: disease_ontology
id: DOID:2789
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

central nervous system disease
type: Class
subclass of: nervous system disease
definition: A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
database_cross_reference: ICD10CM:G96.9
database_cross_reference: MESH:D002493
database_cross_reference: NCI:C2934
database_cross_reference: SNOMEDCT_US_2025_09_01:267144009
database_cross_reference: UMLS_CUI:C0007682
has_obo_namespace: disease_ontology
id: DOID:331
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm
annotated property: definition
annotated source: primary amebic meningoencephalitis
annotated target: 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.

obsolete Apicomplexa infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050243
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Apicomplexa
annotated property: definition
annotated source: obsolete Apicomplexa infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050244
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Coccidia
annotated property: definition
annotated source: obsolete Coccidia infectious disease
annotated target: 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
type: Class
definition: An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.
has_obo_namespace: disease_ontology
id: DOID:0050245
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Aconoidasida
annotated property: definition
annotated source: obsolete Aconoidasida infectious disease
annotated target: An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida.

granulomatous amebic encephalitis
type: Class
subclass of: brain disease
subclass of: primary amebic meningoencephalitis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000682
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000955
definition: 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.
database_cross_reference: GARD:12651
has_exact_synonym: Acanthamoeba encephalitis
has_exact_synonym: Acanthamoeba granulomatous encephalitis
has_exact_synonym: Granulomatous Amebic Encephalitis due to Acanthamoeba
has_exact_synonym: granulomatous amoebic encephalitis
has_obo_namespace: disease_ontology
id: DOID:0050246
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm
annotated property: definition
annotated source: granulomatous amebic encephalitis
annotated target: 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.

obsolete parasitic stramenopiles infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050247
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Stramenopiles
annotated property: definition
annotated source: obsolete parasitic stramenopiles infectious disease
annotated target: 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
type: Class
definition: A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.
has_obo_namespace: disease_ontology
id: DOID:0050249
in_subset: zoonotic_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Brugia_timori
annotated property: definition
annotated source: obsolete Brugia timori filariasis
annotated target: A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema.

philophthalmiasis
type: Class
subclass of: eye disease
subclass of: parasitic helminthiasis infectious disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000970
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050250
in_subset: DO_infectious_disease_slim

eye disease
type: Class
subclass of: sensory system disease
subclass of: Restriction
  on property: RO_0002220
  some values from: UBERON_0004088
definition: An eye and adnexa disease that is located_in the eye.
has_alternative_id: DOID:2933
database_cross_reference: MESH:D005128
database_cross_reference: ICD10CM:H44
database_cross_reference: ICD9CM:379.90
database_cross_reference: NCI:C26767
database_cross_reference: SNOMEDCT_US_2025_09_01:371405004
database_cross_reference: UMLS_CUI:C0015397
has_obo_namespace: disease_ontology
id: DOID:5614
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000970

parasitic helminthiasis infectious disease
type: Class
subclass of: parasitic infectious disease
definition: A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
has_alternative_id: DOID:10693
has_alternative_id: DOID:3563
has_alternative_id: DOID:458
has_alternative_id: DOID:932
database_cross_reference: ICD10CM:B83.9
database_cross_reference: ICD9CM:120-129.99
database_cross_reference: MESH:D006373
database_cross_reference: NCI:C84751
database_cross_reference: SNOMEDCT_US_2025_09_01:187518006
database_cross_reference: UMLS_CUI:C0018889
has_exact_synonym: helminth infection
has_exact_synonym: helminthiasis
has_exact_synonym: helminthosis
has_exact_synonym: worm infection
has_obo_namespace: disease_ontology
id: DOID:883
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm
annotated property: definition
annotated source: philophthalmiasis
annotated target: 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.

coenurosis
type: Class
subclass of: skin disease
subclass of: central nervous system disease
subclass of: parasitic helminthiasis infectious disease
subclass of: Class
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050251
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:https://en.wikipedia.org/wiki/Coenurosis
database_cross_reference: url:https://www.cdc.gov/dpdx/coenurosis/index.html
annotated property: definition
annotated source: coenurosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050252
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Dipylidium_caninum
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm
annotated property: definition
annotated source: obsolete Dipylidium caninum infectious disease
annotated target: 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
type: Class
subclass of: parasitic helminthiasis infectious disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000188
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
definition: A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
has_obo_namespace: disease_ontology
id: DOID:0050253
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm
annotated property: definition
annotated source: mesocestoidiasis
annotated target: A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.

acanthocephaliasis
type: Class
subclass of: parasitic helminthiasis infectious disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000002
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000178
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000229
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000245
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000457
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019180
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050254
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.cdc.gov/dpdx/acanthocephaliasis/index.html
annotated property: definition
annotated source: acanthocephaliasis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050255
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Uncinaria_stenocephala
annotated property: definition
annotated source: obsolete Uncinaria stenocephala infectious disease
annotated target: 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
type: Class
subclass of: central nervous system disease
subclass of: eye disease
subclass of: parasitic helminthiasis infectious disease
subclass of: intestinal disease
subclass of: Class
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000160
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000970
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 6312
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
database_cross_reference: GARD:683
database_cross_reference: MESH:C536369
has_obo_namespace: disease_ontology
id: DOID:0050256
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim

intestinal disease
type: Class
subclass of: gastrointestinal system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A gastrointestinal system disease that is located_in the intestine.
has_alternative_id: DOID:10759
has_alternative_id: DOID:11222
has_alternative_id: DOID:11789
has_alternative_id: DOID:8531
has_alternative_id: DOID:8558
has_alternative_id: DOID:8591
database_cross_reference: ICD10CM:K63.9
database_cross_reference: ICD9CM:569.9
database_cross_reference: MESH:D007410
database_cross_reference: NCI:C26801
database_cross_reference: SNOMEDCT_US_2025_09_01:266483008
database_cross_reference: UMLS_CUI:C0021831
has_obo_namespace: disease_ontology
id: DOID:5295
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000160

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Angiostrongyliasis
annotated property: definition
annotated source: angiostrongyliasis
annotated target: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.

obsolete Angiostrongylus cantonensis infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050257
owl:deprecated: true

obsolete Angiostrongylus costaricensis infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050258
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/5527668
annotated property: definition
annotated source: obsolete Angiostrongylus costaricensis infectious disease
annotated target: 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
type: Class
subclass of: brain disease
subclass of: eye disease
subclass of: parasitic helminthiasis infectious disease
subclass of: intestinal disease
subclass of: spinal cord disease
subclass of: Class
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000160
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000955
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000970
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002240
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000008
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050259
in_subset: DO_infectious_disease_slim

spinal cord disease
type: Class
subclass of: central nervous system disease
database_cross_reference: ICD10CM:G95.9
database_cross_reference: ICD9CM:336.9
database_cross_reference: MESH:D013118
database_cross_reference: NCI:C97110
database_cross_reference: SNOMEDCT_US_2025_09_01:48522003
database_cross_reference: UMLS_CUI:C0037928
has_obo_namespace: disease_ontology
has_related_synonym: myelopathy
id: DOID:319
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002240

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Baylisascaris
annotated property: definition
annotated source: baylisascariasis
annotated target: 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.

dioctophymiasis
type: Class
subclass of: kidney disease
subclass of: skin disease
subclass of: parasitic helminthiasis infectious disease
subclass of: Class
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002113
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050260
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm
annotated property: definition
annotated source: dioctophymiasis
annotated target: 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
type: Class
subclass of: parasitic helminthiasis infectious disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050261
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm
annotated property: definition
annotated source: thelaziasis
annotated target: 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
type: Class
definition: A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity.
has_obo_namespace: disease_ontology
id: DOID:0050262
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Flatworm
annotated property: definition
annotated source: obsolete Acoelomata infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050263
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Body_cavity
annotated property: definition
annotated source: obsolete Pseudocoelomata infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050264
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Acanthocephala
annotated property: definition
annotated source: obsolete Acanthocephala infectious disease
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050265
owl:deprecated: true

tungiasis
type: Class
subclass of: parasitic ectoparasitic infectious disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000092
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000432
definition: 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.
database_cross_reference: GARD:393
database_cross_reference: MESH:D058285
has_obo_namespace: disease_ontology
id: DOID:0050266
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim

parasitic ectoparasitic infectious disease
type: Class
subclass of: parasitic infectious disease
definition: A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.
database_cross_reference: MESH:D004478
database_cross_reference: UMLS_CUI:C0013578
has_exact_synonym: ectoparasitism
has_obo_namespace: disease_ontology
id: DOID:4110
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Tungiasis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm
annotated property: definition
annotated source: tungiasis
annotated target: 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.

obsolete Ancylostoma caninum ancylostomiasis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050267
owl:deprecated: true

ophthalmomyiasis
type: Class
subclass of: eye disease
subclass of: myiasis
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000970
definition: A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
has_obo_namespace: disease_ontology
id: DOID:0050268
in_subset: DO_infectious_disease_slim

myiasis
type: Class
subclass of: parasitic ectoparasitic infectious disease
definition: A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
database_cross_reference: ICD10CM:B87
database_cross_reference: ICD9CM:134.0
database_cross_reference: MESH:D009198
database_cross_reference: NCI:C128400
database_cross_reference: SNOMEDCT_US_2025_09_01:266225001
database_cross_reference: UMLS_CUI:C0027030
has_exact_synonym: Infestation by fly larvae
has_exact_synonym: Infestation by maggots
has_exact_synonym: Maggot infestation
has_obo_namespace: disease_ontology
id: DOID:11080
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Myiasis
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm
annotated property: definition
annotated source: ophthalmomyiasis
annotated target: A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.

Trichomonas vaginalis trichomoniasis
type: Class
subclass of: vaginal disease
subclass of: trichomoniasis
subclass of: vulvar disease
subclass of: cervix disease
subclass of: urethral disease
subclass of: Class
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000002
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000057
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000996
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000997
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 5722
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000890
definition: 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.
database_cross_reference: ICD10CM:A59.00
database_cross_reference: MESH:D014247
database_cross_reference: NCI:C35083
has_exact_synonym: urogenital trichomonas
has_obo_namespace: disease_ontology
id: DOID:0050269
in_subset: DO_IEDB_slim
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

vaginal disease
type: Class
subclass of: female reproductive system disease
definition: A female reproductive system disease that is located_in the vagina.
database_cross_reference: MESH:D014623
database_cross_reference: NCI:C26910
database_cross_reference: SNOMEDCT_US_2025_09_01:25658005
database_cross_reference: UMLS_CUI:C0042251
has_obo_namespace: disease_ontology
id: DOID:121
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000996

trichomoniasis
type: Class
subclass of: parasitic protozoa infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 5721
definition: 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.
has_alternative_id: DOID:10996
database_cross_reference: ICD10CM:A59
database_cross_reference: ICD9CM:131
database_cross_reference: MEDDRA:10044620
database_cross_reference: MESH:D014245
database_cross_reference: NCI:C35720
database_cross_reference: SNOMEDCT_US_2025_09_01:56335008
database_cross_reference: UMLS_CUI:C0040921
has_obo_namespace: disease_ontology
has_related_synonym: trichomonas infection
id: DOID:1947
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

vulvar disease
type: Class
subclass of: female reproductive system disease
definition: A female reproductive system disease that is located_in the vulva.
database_cross_reference: MESH:D014845
database_cross_reference: NCI:C27631
database_cross_reference: SNOMEDCT_US_2025_09_01:5089007
database_cross_reference: UMLS_CUI:C0042994
has_obo_namespace: disease_ontology
id: DOID:2059
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000997

cervix disease
type: Class
subclass of: uterine disease
definition: An uterine disease that is located_in the cervix.
database_cross_reference: MESH:D002577
database_cross_reference: NCI:C40241
database_cross_reference: SNOMEDCT_US_2025_09_01:63339007
database_cross_reference: UMLS_CUI:C0007867
has_obo_namespace: disease_ontology
id: DOID:2253
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000002

urethral disease
type: Class
subclass of: DOID 18
definition: A urinary system disease that is located_in the urethra.
database_cross_reference: ICD10CM:N36.9
database_cross_reference: MESH:D014522
database_cross_reference: NCI:C26903
database_cross_reference: SNOMEDCT_US_2025_09_01:4985009
database_cross_reference: UMLS_CUI:C0041969
has_exact_synonym: urethra disease
has_obo_namespace: disease_ontology
id: DOID:732
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000057

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Trichomoniasis
annotated property: definition
annotated source: Trichomonas vaginalis trichomoniasis
annotated target: 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.

Trichomonas tenax trichomoniasis
type: Class
subclass of: trichomoniasis
subclass of: mouth disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_43075
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000008
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000011
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000167
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050270
in_subset: DO_IEDB_slim
in_subset: DO_infectious_disease_slim

mouth disease
type: Class
subclass of: gastrointestinal system disease
definition: A gastrointestinal system disease that is located_in the mouth.
database_cross_reference: MESH:D009059
database_cross_reference: NCI:C27641
database_cross_reference: SNOMEDCT_US_2025_09_01:118938008
database_cross_reference: UMLS_CUI:C0026636
has_obo_namespace: disease_ontology
id: DOID:403
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000167

Axiom
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/20427914
annotated property: definition
annotated source: Trichomonas tenax trichomoniasis
annotated target: 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.

obsolete cutaneous ascomycota mycosis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050271
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
annotated property: definition
annotated source: obsolete cutaneous ascomycota mycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050272
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota
annotated property: definition
annotated source: obsolete cutaneous basidiomycota mycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050273
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/17641983
annotated property: definition
annotated source: obsolete Neoscytalidium dimidiatum infectious disease
annotated target: 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
type: Class
definition: An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals.
has_obo_namespace: disease_ontology
id: DOID:0050274
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.doctorfungus.org/thefungi/scopulariopsis.htm
annotated property: definition
annotated source: obsolete Scopulariopsis infectious disease
annotated target: An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals.

obsolete onychomycosis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050275
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis
database_cross_reference: url:http://en.wikipedia.org/wiki/Onychomycosis
annotated property: definition
annotated source: obsolete onychomycosis
annotated target: 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
type: Class
definition: A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members.
has_obo_namespace: disease_ontology
id: DOID:0050276
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycosis
annotated property: definition
annotated source: obsolete subcutaneous ascomycota mycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050277
owl:deprecated: true

Axiom
dc:type: ECO_0007636
annotated property: definition
annotated source: obsolete subcutaneous fungi incertae sedis mycosis
annotated target: 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
type: Class
subclass of: subcutaneous mycosis
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050278
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Basidiobolomycosis
annotated property: definition
annotated source: basidiobolomycosis
annotated target: 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
type: Class
subclass of: subcutaneous mycosis
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050279
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Conidiobolomycosis
annotated property: definition
annotated source: conidiobolomycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050280
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
annotated property: definition
annotated source: obsolete superficial ascomycota mycosis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050281
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota
annotated property: definition
annotated source: obsolete superficial basidiomycota mycosis
annotated target: 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
type: Class
definition: A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members.
has_obo_namespace: disease_ontology
id: DOID:0050282
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
annotated property: definition
annotated source: obsolete primary systemic ascomycota mycosis
annotated target: A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members.

obsolete Stachybotrys infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050283
owl:deprecated: true

Axiom
database_cross_reference: url:http://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf
database_cross_reference: url:http://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf
annotated property: definition
annotated source: obsolete Stachybotrys infectious disease
annotated target: 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
type: Class
definition: An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota.
has_obo_namespace: disease_ontology
id: DOID:0050284
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
annotated property: definition
annotated source: obsolete opportunistic ascomycota mycosis
annotated target: An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota.

obsolete opportunistic basidiomycota mycosis
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members.
has_obo_namespace: disease_ontology
id: DOID:0050285
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
annotated property: definition
annotated source: obsolete opportunistic basidiomycota mycosis
annotated target: 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
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.
has_obo_namespace: disease_ontology
id: DOID:0050286
owl:deprecated: true

Axiom
dc:type: ECO_0007636
annotated property: definition
annotated source: obsolete opportunistic fungi incertae sedis mycosis
annotated target: 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
type: Class
definition: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.
has_obo_namespace: disease_ontology
id: DOID:0050287
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/
database_cross_reference: url:http://en.wikipedia.org/wiki/Microsporidia
annotated property: definition
annotated source: obsolete opportunistic microsporidia mycosis
annotated target: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members.

penicilliosis
type: Class
subclass of: opportunistic mycosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_37727
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000047
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000092
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000178
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000208
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050288
in_subset: DO_infectious_disease_slim

opportunistic mycosis
type: Class
subclass of: systemic mycosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4751
definition: 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.
has_alternative_id: DOID:0050137
database_cross_reference: ICD9CM:118
database_cross_reference: SNOMEDCT_US_2025_09_01:78999002
database_cross_reference: UMLS_CUI:C0029119
has_exact_synonym: Opportunistic mycoses
has_exact_synonym: opportunistic systemic mycoses
has_obo_namespace: disease_ontology
id: DOID:2473
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/16418525
annotated property: definition
annotated source: penicilliosis
annotated target: 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.

fusariosis
type: Class
subclass of: opportunistic mycosis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000132
definition: 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.
database_cross_reference: MESH:D060585
has_obo_namespace: disease_ontology
id: DOID:0050289
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14748803
annotated property: definition
annotated source: fusariosis
annotated target: 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
type: Class
subclass of: opportunistic mycosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 5552
definition: 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.
database_cross_reference: MESH:D060586
has_obo_namespace: disease_ontology
id: DOID:0050290
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Trichosporonosis
annotated property: definition
annotated source: trichosporonosis
annotated target: 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
type: Class
subclass of: parasitic infectious disease
definition: A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
has_obo_namespace: disease_ontology
id: DOID:0050291
in_subset: DO_infectious_disease_slim

parasitic infectious disease
type: Class
subclass of: disease by infectious agent
definition: 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.
has_alternative_id: DOID:11681
has_alternative_id: DOID:13509
has_alternative_id: DOID:1396
has_alternative_id: DOID:1494
has_alternative_id: DOID:2114
has_alternative_id: DOID:2293
has_alternative_id: DOID:2922
has_alternative_id: DOID:3564
has_alternative_id: DOID:4191
has_alternative_id: DOID:886
has_alternative_id: DOID:948
has_alternative_id: DOID:9639
has_alternative_id: DOID:9644
database_cross_reference: ICD10CM:H44.12
database_cross_reference: ICD9CM:360.13
database_cross_reference: NCI:C34587
database_cross_reference: SNOMEDCT_US_2025_09_01:57100005
database_cross_reference: UMLS_CUI:C0014238
has_exact_synonym: Ectoparasitic disease
has_exact_synonym: parasitemia
has_obo_namespace: disease_ontology
id: DOID:1398
in_subset: DO_AGR_slim
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mesomycetozoea
annotated property: definition
annotated source: parasitic Ichthyosporea infectious disease
annotated target: A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://dermnetnz.org/topics/skin-manifestations-of-systemic-mycoses
annotated property: definition
annotated source: primary systemic mycosis
annotated target: 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.

obsolete Scopulariopsis brevicaulis infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050293
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm
annotated property: definition
annotated source: obsolete Scopulariopsis brevicaulis infectious disease
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050294
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/444431
annotated property: definition
annotated source: obsolete Scytalidium hyalinum infectious disease
annotated target: 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
type: Class
definition: 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.
has_exact_synonym: plaque sporotrichosis
has_obo_namespace: disease_ontology
id: DOID:0050295
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm
annotated property: definition
annotated source: obsolete cutaneous sporotrichosis
annotated target: 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.

obsolete Asfarviridae infectious disease
type: Class
definition: A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite.
has_obo_namespace: disease_ontology
id: DOID:0050296
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Asfarviridae
annotated property: definition
annotated source: obsolete Asfarviridae infectious disease
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050297
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete adenovirus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses.
has_alternative_id: DOID:3123
has_alternative_id: DOID:3124
has_exact_synonym: Adenoviridae infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050298
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoviridae
annotated property: definition
annotated source: obsolete adenovirus infectious disease
annotated target: A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses.

obsolete Simplexvirus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus.
has_obo_namespace: disease_ontology
id: DOID:0050299
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Simplexvirus
annotated property: definition
annotated source: obsolete Simplexvirus infectious disease
annotated target: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus.

obsolete Deltavirus infectious disease
type: Class
definition: A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.
has_obo_namespace: disease_ontology
id: DOID:0050300
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Deltavirus
annotated property: definition
annotated source: obsolete Deltavirus infectious disease
annotated target: A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.

obsolete Polyomaviridae infectious disease
type: Class
definition: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.
has_obo_namespace: disease_ontology
id: DOID:0050301
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Papillomaviridae
annotated property: definition
annotated source: obsolete Polyomaviridae infectious disease
annotated target: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses.

obsolete Varicellovirus infectious disease
type: Class
definition: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.
has_obo_namespace: disease_ontology
id: DOID:0050302
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Varicellovirus
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/179.html
annotated property: definition
annotated source: obsolete Varicellovirus infectious disease
annotated target: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.

obsolete Hepacivirus infectious disease
type: Class
definition: A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.
has_obo_namespace: disease_ontology
id: DOID:0050303
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/37.html
annotated property: definition
annotated source: obsolete Hepacivirus infectious disease
annotated target: 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
type: Class
subclass of: refractive error
definition: A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.
database_cross_reference: MESH:D000839
has_obo_namespace: disease_ontology
id: DOID:0050304

refractive error
type: Class
subclass of: eye disease
database_cross_reference: ICD10CM:H52.7
database_cross_reference: MESH:D012030
database_cross_reference: NCI:C87145
database_cross_reference: SNOMEDCT_US_2025_09_01:39021009
database_cross_reference: UMLS_CUI:C0034951
has_obo_namespace: disease_ontology
id: DOID:9835
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Aniseikonia
annotated property: definition
annotated source: aniseikonia
annotated target: A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.

obsolete Arteriviridae infectious disease
type: Class
definition: A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.
has_obo_namespace: disease_ontology
id: DOID:0050305
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.expasy.org/viralzone/all_by_species/28.html
annotated property: definition
annotated source: obsolete Arteriviridae infectious disease
annotated target: A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses.

obsolete familial abdominal aortic aneurysm
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
id: DOID:0050306
owl:deprecated: true

obsolete Bornaviridae infectious disease
type: Class
definition: A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.
has_obo_namespace: disease_ontology
id: DOID:0050307
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Bornaviridae
annotated property: definition
annotated source: obsolete Bornaviridae infectious disease
annotated target: A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.

Alkhumra hemorrhagic fever
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_172148
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_69826
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000114
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
definition: 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.
has_exact_synonym: Alkhurma hemorrhagic fever
has_obo_namespace: disease_ontology
id: DOID:0050308
in_subset: DO_infectious_disease_slim
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Alkhurma_virus
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/
database_cross_reference: url:https://www.cdc.gov/alkhurma/about/
annotated property: definition
annotated source: Alkhumra hemorrhagic fever
annotated target: 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.

obsolete Measles virus infectious disease
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050309
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Measles
annotated property: definition
annotated source: obsolete Measles virus infectious disease
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050310
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Helicobacteraceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050311
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Campylobacteraceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050312
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Brucellaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050313
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Erysipelotrichaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050314
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Clostridiaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050315
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Staphylococcaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050316
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Streptococcaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050317
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Burkholderiaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050318
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Legionellaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050319
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Alcaligenaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050320
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete opportunistic Pseudomonadaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050321
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Vibrionaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050322
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Coxiellaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050323
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete physical disorder OBSOLETED TERM
type: Class
definition: 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).
has_obo_namespace: disease_ontology
id: DOID:0050324
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Physical_disorder
annotated property: definition
annotated source: obsolete physical disorder OBSOLETED TERM
annotated target: 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
type: Class
definition: A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
has_obo_namespace: disease_ontology
id: DOID:0050325
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Genetic_disorder
database_cross_reference: url:http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
annotated property: definition
annotated source: obsolete genetic disorder
annotated target: A medical disorder that is an illness caused by abnormalities in genes or chromosomes.

obsolete peripheral dysostosis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation
has_obo_namespace: disease_ontology
id: DOID:0050327
owl:deprecated: true

congenital hypothyroidism
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
subclass of: hypothyroidism
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A hypothyroidism that is present at birth.
has_alternative_id: DOID:11631
has_alternative_id: DOID:11632
database_cross_reference: GARD:1487
database_cross_reference: ICD10CM:E00.1
database_cross_reference: ICD10CM:E03.1
database_cross_reference: ICD9CM:243
database_cross_reference: MESH:D003409
database_cross_reference: MIM:PS275200
database_cross_reference: NCI:C26734
database_cross_reference: NCI:C98921
database_cross_reference: SNOMEDCT_US_2025_09_01:217710005
database_cross_reference: SNOMEDCT_US_2025_09_01:75065003
database_cross_reference: UMLS_CUI:C0010308
database_cross_reference: UMLS_CUI:C0342200
has_obo_namespace: disease_ontology
id: DOID:0050328
in_subset: DO_rare_slim
in_subset: NCIthesaurus

physical disorder
type: Class
subclass of: disease
definition: A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
has_exact_synonym: congenital disorder
has_obo_namespace: disease_ontology
id: DOID:0080015
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004019
    some values from: HP_0001197

hypothyroidism
type: Class
subclass of: DOID 50
definition: A thyroid gland disease which involves an underproduction of thyroid hormone.
has_alternative_id: DOID:11630
database_cross_reference: ICD10CM:E03.9
database_cross_reference: EFO:0004705
database_cross_reference: ICD9CM:244.9
database_cross_reference: MESH:D007037
database_cross_reference: NCI:C26800
database_cross_reference: SNOMEDCT_US_2025_09_01:267465007
database_cross_reference: UMLS_CUI:C0020676
has_exact_synonym: Thyroid deficiency
has_exact_synonym: Thyroid insufficiency
has_obo_namespace: disease_ontology
id: DOID:1459
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism
annotated property: definition
annotated source: congenital hypothyroidism
annotated target: A hypothyroidism that is present at birth.

obsolete mental disorder
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050329
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Classification_of_mental_disorders
database_cross_reference: url:http://en.wikipedia.org/wiki/Mental_disorder
annotated property: definition
annotated source: obsolete mental disorder
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: LADD syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:149730
has_exact_synonym: LEVY-HOLLISTER SYNDROME
has_exact_synonym: Lacrimo-auriculo-dento-digital syndrome 1
has_obo_namespace: disease_ontology
id: DOID:0050331

LADD syndrome
type: Class
subclass of: syndrome
definition: A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers.
database_cross_reference: MIM:PS149730
database_cross_reference: ORDO:2363
has_exact_synonym: Lacrimo-auriculo-dento-digital (LADD) syndrome
has_exact_synonym: lacrimoauriculodentodigital syndrome
has_obo_namespace: disease_ontology
id: DOID:0081370
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome
annotated property: definition
annotated source: lacrimoauriculodentodigital syndrome 1
annotated target: 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.

enlarged vestibular aqueduct
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: vestibular disease
definition: A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.
database_cross_reference: GARD:8651
has_obo_namespace: disease_ontology
id: DOID:0050332
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: vestibular disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002279

vestibular disease
type: Class
subclass of: DOID 2952
definition: An inner ear disease that is located in the vestibular system.
database_cross_reference: ICD10CM:H81.9
database_cross_reference: MESH:D015837
database_cross_reference: SNOMEDCT_US_2025_09_01:267761002
database_cross_reference: UMLS_CUI:C0042594
has_exact_synonym: Vertigo, vestibular disorder
has_obo_namespace: disease_ontology
id: DOID:3426
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004681

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct
annotated property: definition
annotated source: enlarged vestibular aqueduct
annotated target: A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.

obsolete congenital anosmia
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050333
owl:deprecated: true

obsolete thiourea tasting
type: Class
has_exact_synonym: PHENYLTHIOCARBAMIDE TASTING, INCLUDED
has_exact_synonym: PROPYLTHIOURACIL TASTING, INCLUDED
has_obo_namespace: disease_ontology
id: DOID:0050334
owl:deprecated: true

bradyopsia
type: Class
subclass of: autosomal recessive disease
subclass of: retinal disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions.
database_cross_reference: GARD:12299
database_cross_reference: MESH:C564243
database_cross_reference: MIM:PS608415
database_cross_reference: ORDO:75374
database_cross_reference: SNOMEDCT_US_2025_09_01:711163009
database_cross_reference: UMLS_CUI:C1842073
has_exact_synonym: prolonged electroretinal response suppression
has_obo_namespace: disease_ontology
id: DOID:0050335
in_subset: DO_rare_slim

autosomal recessive disease
type: Class
subclass of: autosomal genetic disease
definition: 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.
creation_date: 2012-07-24T12:51:47Z
has_obo_namespace: disease_ontology
id: DOID:0050737
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000148

retinal disease
type: Class
subclass of: eye disease
definition: An eye disease that is located_in the retina.
database_cross_reference: ICD10CM:H35.9
database_cross_reference: ICD9CM:362.9
database_cross_reference: MESH:D012164
database_cross_reference: NCI:C26875
database_cross_reference: SNOMEDCT_US_2025_09_01:29555009
database_cross_reference: UMLS_CUI:C0035309
has_obo_namespace: disease_ontology
id: DOID:5679
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000966

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://medlineplus.gov/genetics/condition/bradyopsia/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17826834
annotated property: definition
annotated source: bradyopsia
annotated target: A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions.

hypophosphatemia
type: Class
subclass of: phosphorus metabolism disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020023
subclass of: Restriction
  on property: RO_0004029
  some values from: hypophosphatemia
subclass of: Restriction
  on property: RO_0004029
  some values from: osteoarthritis
definition: A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.
database_cross_reference: MESH:D017674
has_obo_namespace: disease_ontology
id: DOID:0050336

phosphorus metabolism disease
type: Class
subclass of: mineral metabolism disease
database_cross_reference: ICD9CM:275.3
database_cross_reference: MESH:D010760
database_cross_reference: NCI:C97095
database_cross_reference: SNOMEDCT_US_2025_09_01:190858002
database_cross_reference: UMLS_CUI:C0031707
has_exact_synonym: Phosphorus disorder
has_exact_synonym: disorder of phosphorus metabolism
has_exact_synonym: phosphorus metabolism disorder
has_obo_namespace: disease_ontology
id: DOID:2485
in_subset: NCIthesaurus

osteoarthritis
type: Class
comment: Xref MGI.
subclass of: DOID 848
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019169
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_140600
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_165720
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_607850
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_610839
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_612400
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_612401
definition: An arthritis that has_material_basis_in worn out cartilage located_in joint.
database_cross_reference: ICD9CM:715.3
database_cross_reference: UMLS_CUI:C0157946
has_exact_synonym: Osteoarthrosis and allied disorder
has_exact_synonym: degenerative arthritis
has_exact_synonym: degenerative joint disease
has_exact_synonym: hypertrophic arthritis
has_exact_synonym: osteoarthrosis
has_obo_namespace: disease_ontology
id: DOID:8398

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Hypophosphatemia
annotated property: definition
annotated source: hypophosphatemia
annotated target: A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.

obsolete Burkholderia cepacia infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050337
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Infectious_disease
annotated property: definition
annotated source: primary bacterial infectious disease
annotated target: 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.

commensal bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050339
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.microbiologyinpictures.com/introduction.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24727150
annotated property: definition
annotated source: commensal bacterial infectious disease
annotated target: 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
type: Class
subclass of: bacterial infectious disease
definition: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
has_obo_namespace: disease_ontology
id: DOID:0050340
in_subset: DO_FlyBase_slim
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545
annotated property: definition
annotated source: opportunistic bacterial infectious disease
annotated target: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.

obsolete opportunistic Actinomycetales infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050341
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Actinomycetales infectious disease
type: Class
definition: A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora.
has_obo_namespace: disease_ontology
id: DOID:0050342
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf
annotated property: definition
annotated source: obsolete commensal Actinomycetales infectious disease
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050343
owl:deprecated: true

obsolete commensal Bifidobacteriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050344
owl:deprecated: true

obsolete primary Thermomonosporaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050345
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Corynebacteriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050346
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Mycobacteriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050347
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Streptomycetaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050348
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete opportunistic Nocardiaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050349
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Clostridiaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050350
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Clostridium infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050351
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

foodborne botulism
type: Class
subclass of: botulism
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000012
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000258
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000414
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000493
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000704
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020047
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050352
in_subset: DO_infectious_disease_slim
in_subset: GOLD
in_subset: gram-positive_bacterial_infectious_disease

Axiom
database_cross_reference: url:https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/
annotated property: definition
annotated source: foodborne botulism
annotated target: 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
type: Class
subclass of: botulism
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000007
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050353
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs270/en/
annotated property: definition
annotated source: wound botulism
annotated target: 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
type: Class
subclass of: botulism
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000012
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000075
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000369
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000493
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019180
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050354
in_subset: DO_infectious_disease_slim
in_subset: gram-positive_bacterial_infectious_disease

Axiom
database_cross_reference: url:https://www.aafp.org/afp/2002/0401/p1388.html
annotated property: definition
annotated source: infant botulism
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050355
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Burkholderia cenocepacia infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050357
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Chlamydiaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050358
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Bilophila wadsworthia necrotizing fasciitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050359
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Enterobacteriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050360
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete opportunistic Enterobacteriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050361
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Elizabethkingia meningoseptica infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050362
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Capnocytophaga canimorsus infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050363
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete opportunistic Flavobacteriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050364
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Chryseobacterium indologenes infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050365
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Empedobacter brevis endophthalmitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050366
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Myroides odoratus necrotizing fasciitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050367
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Fusobacteriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050368
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Mycoplasmataceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050369
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Neisseriaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050370
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Pasteurellaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050371
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Haemophilus infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050372
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Leptospiraceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050373
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Spirochaetaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050374
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete primary Spirillaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050375
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete anaplasmosis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050376
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Burkholderia cepacia complex infectious disease
type: Class
has_alternative_id: DOID:0050356
has_obo_namespace: disease_ontology
id: DOID:0050377
owl:deprecated: true

obsolete opportunistic Campylobacteraceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050378
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Campylobacter fetus infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050379
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Campylobacter coli infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050380
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete Chlamydia trachomatis epididymitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050381
owl:deprecated: true

glandular tularemia
type: Class
subclass of: tularemia
definition: A tularemia that results_in swelling of regional lymph glands.
has_obo_namespace: disease_ontology
id: DOID:0050382
in_subset: DO_infectious_disease_slim

tularemia
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 263
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: NCBITaxon_27458
    union of: NCBITaxon_34621
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: TRANS_0000007
    union of: TRANS_0000014
    union of: TRANS_0000020
    union of: TRANS_0000024
definition: 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.
database_cross_reference: ICD9CM:021.8
database_cross_reference: SNOMEDCT_US_2025_09_01:186298002
database_cross_reference: UMLS_CUI:C0029835
database_cross_reference: GARD:396
has_obo_namespace: disease_ontology
id: DOID:2123
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/tularemia/signssymptoms/
annotated property: definition
annotated source: glandular tularemia
annotated target: A tularemia that results_in swelling of regional lymph glands.

typhoidal tularemia
type: Class
subclass of: tularemia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000178
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019176
definition: A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
has_obo_namespace: disease_ontology
id: DOID:0050383
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29635071
annotated property: definition
annotated source: typhoidal tularemia
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050384
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Helicobacter infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050385
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Acinetobacter baumannii pneumonia
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050386
in_subset: GOLD
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

nonpapillary renal cell carcinoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: hereditary renal cell carcinoma
definition: A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.
database_cross_reference: MIM:144700
has_obo_namespace: disease_ontology
id: DOID:0050387

hereditary renal cell carcinoma
type: Class
subclass of: DOID 4450
database_cross_reference: GARD:9571
has_obo_namespace: disease_ontology
id: DOID:4455
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2921777
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8415591
annotated property: definition
annotated source: nonpapillary renal cell carcinoma
annotated target: A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.

obsolete Bacteroides fragilis peritonitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050388
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Capnocytophaga canimorsus meningitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050389
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete Capnocytophaga canimorsus endocarditis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050390
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete Elizabethkingia meningoseptica meningitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050391
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete streptococcal necrotizing fasciitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050392
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Chryseobacterium indologenes pneumonia
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050393
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete nocardial pneumonia
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050394
owl:deprecated: true

obsolete nocardial cellulitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050395
owl:deprecated: true

obsolete nocardial keratitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050396
owl:deprecated: true

obsolete cerebral Bilophila wadsworthia infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050397
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

Carrion's disease
type: Class
subclass of: bartonellosis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 774
definition: 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.
has_exact_synonym: Carrion disease
has_exact_synonym: Oroya fever
has_obo_namespace: disease_ontology
id: DOID:0050398
in_subset: DO_infectious_disease_slim

bartonellosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
database_cross_reference: ICD10CM:A44
database_cross_reference: ICD9CM:088.0
database_cross_reference: MESH:D001474
database_cross_reference: NCI:C84586
database_cross_reference: SNOMEDCT_US_2025_09_01:17116008
database_cross_reference: UMLS_CUI:C0004771
has_exact_synonym: Bartonella infectious disease
has_exact_synonym: Rochalimaea infection
has_exact_synonym: bartonelliasis
has_obo_namespace: disease_ontology
id: DOID:11102
in_subset: DO_infectious_disease_slim
in_subset: GOLD
in_subset: NCIthesaurus
in_subset: gram-negative_bacterial_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carrion%27s_disease
annotated property: definition
annotated source: Carrion's disease
annotated target: 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.

obsolete Bordetella pertussis whooping cough
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050399
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Pseudomonas urinary tract infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050400
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Pseudomonas endocarditis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050401
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Pseudomonas keratitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050402
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Mycoplasmatales infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050403
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Mycoplasmataceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050404
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Mycoplasma genitalium urethritis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050405
in_subset: gram-negative_bacterial_infectious_disease
in_subset: sexually_transmitted_infectious_disease
owl:deprecated: true

obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050406
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete commensal Mycoplasma infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050407
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete Staphylococcus aureus ecthyma
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050408
owl:deprecated: true

obsolete Streptococcus pyogenes ecthyma
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050409
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete streptococcal erysipelas
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050410
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Staphylococcus aureus erysipelas
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050411
owl:deprecated: true

obsolete Streptococcus impetigo
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050412
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Staphylococcus aureus impetigo
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050413
owl:deprecated: true

obsolete Streptococcus lymphangitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050414
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Staphylococcus aureus lymphangitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050415
owl:deprecated: true

obsolete Streptococcus agalactiae meningitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050416
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Streptococcus equisimilis meningitis
type: Class
has_exact_synonym: Streptococcus dysgalactiae subsp. equisimilis meningitis
has_obo_namespace: disease_ontology
id: DOID:0050417
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Streptococcus zooepidemicus meningitis
type: Class
has_exact_synonym: Streptococcus equi subsp. zooepidemicus meningitis
has_obo_namespace: disease_ontology
id: DOID:0050418
in_subset: gram-positive_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

complement factor I deficiency
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: complement deficiency
definition: A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.
database_cross_reference: MESH:C572568
database_cross_reference: MIM:610984
has_exact_synonym: C3 INACTIVATOR DEFICIENCY
has_exact_synonym: COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
has_obo_namespace: disease_ontology
id: DOID:0050419

complement deficiency
type: Class
subclass of: primary immunodeficiency disease
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0005339
definition: 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.
database_cross_reference: ICD10CM:D84.1
database_cross_reference: MESH:D000081208
database_cross_reference: NCI:C4691
database_cross_reference: SNOMEDCT_US_2025_09_01:191014008
database_cross_reference: UMLS_CUI:C0272242
has_exact_synonym: Complement deficiency disease
has_obo_namespace: disease_ontology
id: DOID:626
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/610984
annotated property: definition
annotated source: complement factor I deficiency
annotated target: A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.

obsolete primary Streptococcaceae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050420
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete primary streptococcal infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050421
in_subset: gram-positive_bacterial_infectious_disease
owl:deprecated: true

obsolete Yersinia pseudotuberculosis gastroenteritis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050422
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete enteroaggregative Escherichia coli infectious disease
type: Class
has_exact_synonym: enteroaggregative E.coli infection
has_obo_namespace: disease_ontology
id: DOID:0050423
owl:deprecated: true

familial adenomatous polyposis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: intestinal disease
subclass of: autosomal genetic disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000934
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: An intestinal disease that is characterized by predisposition to colon cancer.
database_cross_reference: GARD:6408
database_cross_reference: ICD10CM:D13.91
database_cross_reference: MESH:D011125
database_cross_reference: MIM:PS175100
database_cross_reference: NCI:C3339
database_cross_reference: ORDO:733
database_cross_reference: SNOMEDCT_US_2025_09_01:72900001
database_cross_reference: UMLS_CUI:C0032580
has_exact_synonym: adenomatous polyposis of the colon
has_obo_namespace: disease_ontology
id: DOID:0050424
in_subset: DO_rare_slim
in_subset: NCIthesaurus

autosomal genetic disease
type: Class
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in a mutation on one of the non-sex chromosomes.
creation_date: 2012-07-24T04:45:53Z
has_obo_namespace: disease_ontology
id: DOID:0050739
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000934

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8256374/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1345/
annotated property: definition
annotated source: familial adenomatous polyposis
annotated target: An intestinal disease that is characterized by predisposition to colon cancer.

restless legs syndrome
type: Class
comment: Xref MGI.
subclass of: central nervous system disease
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_102300
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_608831
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_610438
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_610439
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_611185
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_611242
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_612853
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_615197
definition: A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
database_cross_reference: EFO:0004270
database_cross_reference: GARD:11926
database_cross_reference: ICD10CM:G25.81
database_cross_reference: ICD9CM:333.94
database_cross_reference: MESH:D012148
database_cross_reference: MIM:PS102300
database_cross_reference: NCI:C84501
database_cross_reference: SNOMEDCT_US_2025_09_01:32914008
database_cross_reference: UMLS_CUI:C0035258
has_exact_synonym: WED
has_exact_synonym: Willis-Ekbom disease
has_exact_synonym: Wittmaack-Ekbom syndrome
has_obo_namespace: disease_ontology
id: DOID:0050425
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Restless_legs_syndrome
database_cross_reference: url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm
annotated property: definition
annotated source: restless legs syndrome
annotated target: A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: restless legs syndrome
annotated target: WED

Stevens-Johnson syndrome
type: Class
subclass of: skin disease
definition: 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.
database_cross_reference: EFO:0004276
database_cross_reference: GARD:7700
database_cross_reference: ICD10CM:L51.1
database_cross_reference: ICD9CM:695.13
database_cross_reference: MESH:D013262
database_cross_reference: NCI:C79484
database_cross_reference: SNOMEDCT_US_2025_09_01:73442001
database_cross_reference: UMLS_CUI:C0038325
has_obo_namespace: disease_ontology
id: DOID:0050426
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome
annotated property: definition
annotated source: Stevens-Johnson syndrome
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:7910
database_cross_reference: ICD10CM:Q82.1
database_cross_reference: MESH:D014983
database_cross_reference: NCI:C3452
database_cross_reference: ORDO:910
database_cross_reference: SNOMEDCT_US_2025_09_01:44600005
database_cross_reference: UMLS_CUI:C0043346
has_obo_namespace: disease_ontology
id: DOID:0050427
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

syndrome
type: Class
subclass of: disease
definition: A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
database_cross_reference: MESH:D013577
database_cross_reference: NCI:C28193
database_cross_reference: SNOMEDCT_US_2025_09_01:64572001
database_cross_reference: UMLS_CUI:C0039082
has_obo_namespace: disease_ontology
id: DOID:225
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004019
    some values from: SYMP_0000462

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract
annotated property: definition
annotated source: xeroderma pigmentosum
annotated target: 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.

nonepidermolytic palmoplantar keratoderma
type: Class
subclass of: palmoplantar keratosis
definition: A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
database_cross_reference: MESH:C563422
database_cross_reference: UMLS_CUI:C1833030
has_exact_synonym: NEPPK
has_exact_synonym: Thost-Unna Syndrome
has_exact_synonym: Unna-Thost Syndrome
has_exact_synonym: diffuse nonepidermolytic palmomplantar keratoderma
has_exact_synonym: tylosis
has_obo_namespace: disease_ontology
id: DOID:0050428
in_subset: DO_rare_slim

palmoplantar keratosis
type: Class
subclass of: keratosis
definition: A keratosis characterized by abnormal thickening of the palms and the soles.
database_cross_reference: GARD:8167
database_cross_reference: ICD10CM:L85.2
database_cross_reference: SNOMEDCT_US_2025_09_01:28596004
database_cross_reference: UMLS_CUI:C0022596
has_exact_synonym: Keratosis palmaris et plantaris
has_exact_synonym: Palmoplantar Keratoderma
has_exact_synonym: palmo-plantar keratodermas
has_obo_namespace: disease_ontology
id: DOID:3390
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma
annotated property: definition
annotated source: nonepidermolytic palmoplantar keratoderma
annotated target: A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: nonepidermolytic palmoplantar keratoderma
annotated target: NEPPK

Hailey-Hailey disease
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: pemphigus
subclass of: autosomal dominant disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0015474
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_8410021
definition: 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.
database_cross_reference: GARD:6559
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: MESH:D016506
database_cross_reference: MIM:169600
database_cross_reference: NCI:C82865
database_cross_reference: SNOMEDCT_US_2025_09_01:79468000
database_cross_reference: UMLS_CUI:C0085106
has_exact_synonym: BENIGN CHRONIC PEMPHIGUS
has_exact_synonym: Pemphigus, Benign Familial
has_obo_namespace: disease_ontology
id: DOID:0050429
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/hailey-hailey-disease/
annotated property: definition
annotated source: Hailey-Hailey disease
annotated target: 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.

multiple endocrine neoplasia type 2A
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: multiple endocrine neoplasia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
database_cross_reference: ICD10CM:E31.22
database_cross_reference: ICD9CM:258.02
database_cross_reference: MESH:D018813
database_cross_reference: MIM:171400
database_cross_reference: NCI:C3226
database_cross_reference: ORDO:247698
database_cross_reference: SNOMEDCT_US_2025_09_01:721188000
database_cross_reference: UMLS_CUI:C0025268
has_exact_synonym: MEN2A
has_exact_synonym: Sipple syndrome
has_exact_synonym: multiple endocrine neoplasia II
has_obo_namespace: disease_ontology
id: DOID:0050430
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

multiple endocrine neoplasia
type: Class
subclass of: syndrome
definition: A syndrome that is characterized by tumors in at least two endocrine glands.
database_cross_reference: MESH:D009377
has_exact_synonym: Multiple endocrine adenomatosis
has_exact_synonym: Multiple endocrine neoplasia syndrome
has_obo_namespace: disease_ontology
id: DOID:3125

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
database_cross_reference: url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15965261
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract
annotated property: definition
annotated source: multiple endocrine neoplasia type 2A
annotated target: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: multiple endocrine neoplasia type 2A
annotated target: MEN2A

arrhythmogenic right ventricular cardiomyopathy
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: intrinsic cardiomyopathy
definition: 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.
database_cross_reference: MESH:D019571
database_cross_reference: MIM:PS107970
database_cross_reference: NCI:C84571
database_cross_reference: ORDO:217656
database_cross_reference: ORDO:247
database_cross_reference: SNOMEDCT_US_2025_09_01:281170005
database_cross_reference: UMLS_CUI:C0349788
has_exact_synonym: ARVC
has_exact_synonym: ARVC cardiomyopathy
has_exact_synonym: ARVD
has_exact_synonym: arrhythmogenic right ventricular dysplasia
has_exact_synonym: arrhythmogenic right ventricular dysplasia/cardiomyopathy
has_exact_synonym: right ventricular ACM
has_obo_namespace: disease_ontology
id: DOID:0050431
in_subset: DO_rare_slim
in_subset: NCIthesaurus

intrinsic cardiomyopathy
type: Class
subclass of: cardiomyopathy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
has_obo_namespace: disease_ontology
id: DOID:0060036

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy
database_cross_reference: url:http://my.clevelandclinic.org/services/heart/disorders/arvd
database_cross_reference: url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/31637441/
annotated property: definition
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated target: ARVC

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated target: ARVD

Asperger syndrome
type: Class
comment: Multiple OMIM IDs are susceptibility terms [LS]
subclass of: autism spectrum disorder
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_300494
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_300497
definition: 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.
database_cross_reference: GARD:5855
database_cross_reference: ICD10CM:F84.5
database_cross_reference: MESH:D020817
database_cross_reference: MIM:608631
database_cross_reference: MIM:608638
database_cross_reference: MIM:608781
database_cross_reference: MIM:609954
database_cross_reference: MIM:PS608638
database_cross_reference: NCI:C97159
database_cross_reference: ORDO:1162
database_cross_reference: SNOMEDCT_US_2025_09_01:154879004
database_cross_reference: UMLS_CUI:C0236792
has_obo_namespace: disease_ontology
id: DOID:0050432
in_subset: DO_rare_slim
in_subset: NCIthesaurus

autism spectrum disorder
type: Class
subclass of: pervasive developmental disorder
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019187
definition: 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.
database_cross_reference: GARD:10248
database_cross_reference: MESH:D000067877
has_obo_namespace: disease_ontology
id: DOID:0060041
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Asperger_syndrome
database_cross_reference: url:http://www.neurodevnet.ca
annotated property: definition
annotated source: Asperger syndrome
annotated target: 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.

fatal familial insomnia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: prion disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000607
definition: A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
database_cross_reference: GARD:6429
database_cross_reference: ICD10CM:A81.83
database_cross_reference: ICD9CM:046.72
database_cross_reference: MESH:D034062
database_cross_reference: MIM:600072
database_cross_reference: NCI:C84711
database_cross_reference: SNOMEDCT_US_2025_09_01:83157008
database_cross_reference: UMLS_CUI:C0206042
has_obo_namespace: disease_ontology
id: DOID:0050433
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

prion disease
type: Class
subclass of: disease by infectious agent
subclass of: brain disease
definition: 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.
database_cross_reference: ICD10CM:A81.9
database_cross_reference: KEGG:05020
database_cross_reference: MESH:D017096
database_cross_reference: NCI:C128346
database_cross_reference: SNOMEDCT_US_2025_09_01:20484008
database_cross_reference: UMLS_CUI:C0162534
has_exact_synonym: Prion disease pathway
has_exact_synonym: Prion protein disease
has_exact_synonym: Spongiform Encephalopathy
has_exact_synonym: prion induced disorder
has_exact_synonym: transmissible spongiform encephalopathy
has_obo_namespace: disease_ontology
id: DOID:649
in_subset: DO_FlyBase_slim
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_36469

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Fatal_familial_insomnia
annotated property: definition
annotated source: fatal familial insomnia
annotated target: A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.

Andersen-Tawil syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: long QT syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000287
definition: 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.
database_cross_reference: GARD:9453
database_cross_reference: MESH:D050030
database_cross_reference: MIM:170390
database_cross_reference: NCI:C84559
database_cross_reference: ORDO:37553
database_cross_reference: SNOMEDCT_US_2025_09_01:422348008
database_cross_reference: UMLS_CUI:C1563715
has_exact_synonym: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
has_exact_synonym: Andersen syndrome
has_exact_synonym: LQT7
has_exact_synonym: Long QT syndrome 7
has_exact_synonym: Potassium-Sensitive Cardiodysrhythmic Type
has_obo_namespace: disease_ontology
id: DOID:0050434
in_subset: DO_rare_slim
in_subset: NCIthesaurus

long QT syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: intrinsic cardiomyopathy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000287
definition: 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).
has_alternative_id: DOID:4069
database_cross_reference: GARD:6922
database_cross_reference: ICD10CM:I45.81
database_cross_reference: ICD9CM:426.82
database_cross_reference: MESH:D008133
database_cross_reference: MIM:PS192500
database_cross_reference: NCI:C34786
database_cross_reference: ORDO:768
database_cross_reference: SNOMEDCT_US_2025_09_01:9651007
database_cross_reference: UMLS_CUI:C0023976
has_exact_synonym: LQT
has_exact_synonym: long Q-T syndrome
has_narrow_synonym: Romano-Ward syndrome
has_obo_namespace: disease_ontology
id: DOID:2843
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
has narrower match: ORDO:101016

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome
database_cross_reference: url:http://en.wikipedia.org/wiki/Long_QT_syndrome
annotated property: definition
annotated source: Andersen-Tawil syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Andersen-Tawil syndrome
annotated target: LQT7

mulibrey nanism
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:95
database_cross_reference: MESH:D050336
database_cross_reference: MIM:253250
database_cross_reference: NCI:C84906
database_cross_reference: ORDO:2576
database_cross_reference: SNOMEDCT_US_2025_09_01:81604003
database_cross_reference: UMLS_CUI:C0524582
has_exact_synonym: MUL
has_exact_synonym: Mulibrey growth disorder
has_exact_synonym: Muscle-Liver-Brain-Eye Nanism
has_exact_synonym: PERICARDIAL CONSTRICTION AND GROWTH FAILURE
has_exact_synonym: Perheentupa Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050436
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/mulibrey-nanism/
annotated property: definition
annotated source: mulibrey nanism
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: mulibrey nanism
annotated target: MUL

Danon disease
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: X-linked dominant disease
subclass of: lysosomal storage disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
database_cross_reference: GARD:9730
database_cross_reference: ICD10CM:E74.05
database_cross_reference: MESH:D052120
database_cross_reference: MIM:300257
database_cross_reference: NCI:C84735
database_cross_reference: SNOMEDCT_US_2025_09_01:419097006
database_cross_reference: UMLS_CUI:C0878677
has_exact_synonym: ANTOPOL DISEASE
has_exact_synonym: PSEUDOGLYCOGENOSIS II
has_obo_namespace: disease_ontology
id: DOID:0050437
in_subset: DO_rare_slim
in_subset: NCIthesaurus

X-linked dominant disease
type: Class
subclass of: X-linked monogenic disease
definition: A X-linked monogenic disease that has_material_basis_in dominant inheritance.
has_obo_namespace: disease_ontology
id: DOID:0080009
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000146

lysosomal storage disease
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
database_cross_reference: MESH:D016464
database_cross_reference: NCI:C61250
database_cross_reference: SNOMEDCT_US_2025_09_01:28821000119102
database_cross_reference: UMLS_CUI:C0085078
has_exact_synonym: disorder of lysosomal enzyme
has_exact_synonym: inborn lysosomal enzyme disorder
has_exact_synonym: lysosomal storage metabolism disorder
has_obo_namespace: disease_ontology
id: DOID:3211
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/danon-disease/
annotated property: definition
annotated source: Danon disease
annotated target: A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.

Frasier syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:2375
database_cross_reference: MESH:D052159
database_cross_reference: MIM:136680
database_cross_reference: NCI:C122805
database_cross_reference: SNOMEDCT_US_2025_09_01:445431000
database_cross_reference: UMLS_CUI:C0950122
has_obo_namespace: disease_ontology
id: DOID:0050438
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/frasier-syndrome
annotated property: definition
annotated source: Frasier syndrome
annotated target: 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.

Usher syndrome
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by a combination of hearing loss and visual impairment.
database_cross_reference: GARD:7843
database_cross_reference: ICD10CM:Q99.81
database_cross_reference: ICD10CM:Q99.813
database_cross_reference: MESH:D052245
database_cross_reference: MIM:PS276900
database_cross_reference: NCI:C126329
database_cross_reference: NCI:C85217
database_cross_reference: ORDO:886
database_cross_reference: SNOMEDCT_US_2025_09_01:1010610007
database_cross_reference: SNOMEDCT_US_2025_09_01:57838006
has_obo_namespace: disease_ontology
id: DOID:0050439
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Usher_syndrome
annotated property: definition
annotated source: Usher syndrome
annotated target: A syndrome characterized by a combination of hearing loss and visual impairment.

familial partial lipodystrophy
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: partial lipodystrophy
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001013
definition: A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
database_cross_reference: GARD:11962
database_cross_reference: MESH:D052496
database_cross_reference: MIM:PS151660
database_cross_reference: NCI:C165527
database_cross_reference: NCI:C84708
database_cross_reference: ORDO:98306
database_cross_reference: SNOMEDCT_US_2025_09_01:1197745002
database_cross_reference: SNOMEDCT_US_2025_09_01:49292002
database_cross_reference: SNOMEDCT_US_2025_09_01:715439000
database_cross_reference: SNOMEDCT_US_2025_09_01:725035001
database_cross_reference: UMLS_CUI:C0271694
database_cross_reference: UMLS_CUI:C1720859
database_cross_reference: UMLS_CUI:C1720860
database_cross_reference: UMLS_CUI:C1720861
has_exact_synonym: Dunnigan Syndrome
has_exact_synonym: Koberling-Dunnigan Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050440
in_subset: DO_rare_slim
in_subset: NCIthesaurus

partial lipodystrophy
type: Class
subclass of: DOID 811
definition: A lipodystrophy that is characterized by partial loss of adipose tissue.
has_obo_namespace: disease_ontology
id: DOID:0080299

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy
database_cross_reference: url:http://omim.org/entry/608600
annotated property: definition
annotated source: familial partial lipodystrophy
annotated target: A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

mucosulfatidosis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: sphingolipidosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: ICD10CM:E75.26
database_cross_reference: MESH:D052517
database_cross_reference: MIM:272200
database_cross_reference: NCI:C84908
database_cross_reference: SNOMEDCT_US_2025_09_01:54898003
database_cross_reference: UMLS_CUI:C0268263
has_exact_synonym: Sulfatidosis, Juvenile, Austin Type
has_exact_synonym: multiple sulfatase deficiency disease
has_obo_namespace: disease_ontology
id: DOID:0050441
in_subset: NCIthesaurus

sphingolipidosis
type: Class
subclass of: lipid storage disease
definition: A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
database_cross_reference: SNOMEDCT_US_2025_09_01:58459009
database_cross_reference: GARD:7672
database_cross_reference: ICD10CM:E75.3
database_cross_reference: MESH:D013106
database_cross_reference: NCI:C117254
database_cross_reference: UMLS_CUI:C0037899
has_exact_synonym: sphingolipidoses
has_obo_namespace: disease_ontology
id: DOID:1927
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency
annotated property: definition
annotated source: mucosulfatidosis
annotated target: 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.

infantile Refsum disease
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: peroxisomal disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000047
definition: 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.
database_cross_reference: ICD10CM:G60.1
database_cross_reference: MESH:D052919
database_cross_reference: NCI:C84789
database_cross_reference: SNOMEDCT_US_2025_09_01:238062008
database_cross_reference: UMLS_CUI:C0282527
has_exact_synonym: infantile phytanic acid storage disease
has_obo_namespace: disease_ontology
id: DOID:0050444
in_subset: NCIthesaurus

peroxisomal disease
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves peroxisome malfunction.
database_cross_reference: ICD10CM:E71.5
database_cross_reference: ICD9CM:277.86
database_cross_reference: MESH:D018901
database_cross_reference: NCI:C85005
database_cross_reference: SNOMEDCT_US_2025_09_01:238059005
database_cross_reference: UMLS_CUI:C0282528
has_exact_synonym: peroxisomal disorder
has_obo_namespace: disease_ontology
id: DOID:906
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://en.wikipedia.org/wiki/Infantile_Refsum_disease
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK560618/
annotated property: definition
annotated source: infantile Refsum disease
annotated target: 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.

X-linked hypophosphatemic rickets
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: X-linked dominant disease
subclass of: rickets
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: 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.
database_cross_reference: GARD:12943
database_cross_reference: MESH:D053098
database_cross_reference: MIM:307800
database_cross_reference: NCI:C85234
database_cross_reference: UMLS_CUI:C0733682
database_cross_reference: UMLS_CUI:C1845168
database_cross_reference: UMLS_CUI:C3540852
has_exact_synonym: Hypophosphatemia, Vitamin D-Resistant Rickets
has_exact_synonym: Vitamin D-Resistant Rickets, X-Linked
has_exact_synonym: X-linked dominant hypophosphatemic rickets
has_exact_synonym: X-linked hypophosphatemia
has_exact_synonym: hypophosphatemic rickets X-linked dominant
has_obo_namespace: disease_ontology
id: DOID:0050445
in_subset: DO_rare_slim
in_subset: NCIthesaurus

rickets
type: Class
comment: Xref MGI.
subclass of: DOID_0080005
definition: 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.
has_alternative_id: DOID:11672
database_cross_reference: ICD10CM:E55.0
database_cross_reference: SNOMEDCT_US_2025_09_01:190639009
database_cross_reference: GARD:5700
database_cross_reference: MESH:D012279
database_cross_reference: NCI:C26878
database_cross_reference: UMLS_CUI:C0035579
has_exact_synonym: active rickets
has_obo_namespace: disease_ontology
id: DOID:10609
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK83985/
annotated property: definition
annotated source: X-linked hypophosphatemic rickets
annotated target: 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.

white sponge nevus
type: Class
comment: 2023 nomenclature update to white sponge nevus.
subclass of: skin disease
definition: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
database_cross_reference: GARD:8501
database_cross_reference: MESH:D053529
database_cross_reference: MIM:PS193900
database_cross_reference: NCI:C84760
database_cross_reference: ORDO:171723
database_cross_reference: SNOMEDCT_US_2025_09_01:85388002
database_cross_reference: UMLS_CUI:C1721005
has_exact_synonym: hereditary mucosal leukokeratosis
has_exact_synonym: white sponge nevus of Cannon
has_obo_namespace: disease_ontology
id: DOID:0050448
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/White_sponge_nevus
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/29034652/
annotated property: definition
annotated source: white sponge nevus
annotated target: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

pachyonychia congenita
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:10753
database_cross_reference: MESH:D053549
database_cross_reference: MIM:PS167200
database_cross_reference: NCI:C84986
database_cross_reference: ORDO:2309
database_cross_reference: SNOMEDCT_US_2025_09_01:39427000
database_cross_reference: UMLS_CUI:C0265334
database_cross_reference: UMLS_CUI:C1706595
database_cross_reference: UMLS_CUI:C1721007
has_exact_synonym: Jackson-Lawler Type Pachyonychia Congenita
has_exact_synonym: Jadassohn-Lewandowsky Syndrome
has_exact_synonym: PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
has_exact_synonym: Pachyonychia Congenita Type 1
has_obo_namespace: disease_ontology
id: DOID:0050449
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/pachyonychia-congenita
annotated property: definition
annotated source: pachyonychia congenita
annotated target: 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.

Gitelman syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: renal tubular transport disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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).
database_cross_reference: GARD:8547
database_cross_reference: MESH:D053579
database_cross_reference: MIM:263800
database_cross_reference: NCI:C84730
database_cross_reference: SNOMEDCT_US_2025_09_01:3188003
database_cross_reference: UMLS_CUI:C0268450
has_exact_synonym: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
has_obo_namespace: disease_ontology
id: DOID:0050450
in_subset: DO_rare_slim
in_subset: NCIthesaurus

renal tubular transport disease
type: Class
subclass of: kidney disease
database_cross_reference: MESH:D015499
database_cross_reference: UMLS_CUI:C0035091
has_exact_synonym: inborn renal tubular transport disorder
has_obo_namespace: disease_ontology
id: DOID:447

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/gitelman-syndrome
annotated property: definition
annotated source: Gitelman syndrome
annotated target: 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).

Brugada syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: monogenic disease
subclass of: heart conduction disease
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
database_cross_reference: GARD:1030
database_cross_reference: ICD10CM:I49.8
database_cross_reference: MESH:D053840
database_cross_reference: MIM:PS601144
database_cross_reference: NCI:C142891
database_cross_reference: ORDO:130
database_cross_reference: SNOMEDCT_US_2025_09_01:418818005
database_cross_reference: UMLS_CUI:C1142166
database_cross_reference: UMLS_CUI:C1721096
has_exact_synonym: Bangungut
has_exact_synonym: Brugada type idiopathic ventricular fibrillation
has_exact_synonym: Dream disease
has_exact_synonym: Pokkuri death syndrome
has_exact_synonym: SUNDS
has_exact_synonym: sudden unexplained nocturnal death syndrome
has_obo_namespace: disease_ontology
id: DOID:0050451
in_subset: DO_rare_slim
in_subset: NCIthesaurus

heart conduction disease
type: Class
subclass of: heart disease
definition: A cardiovascular system disease that involves the heart's electrical conduction system.
database_cross_reference: ICD9CM:426.6
database_cross_reference: SNOMEDCT_US_2025_09_01:195053008
database_cross_reference: UMLS_CUI:C0029630
has_exact_synonym: heart rhythm disease
has_obo_namespace: disease_ontology
id: DOID:10273
in_subset: DO_RAD_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Brugada_syndrome
annotated property: definition
annotated source: Brugada syndrome
annotated target: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Brugada syndrome
annotated target: SUNDS

mevalonic aciduria
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: peroxisomal disease
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: 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.
database_cross_reference: GARD:3588
database_cross_reference: ICD10CM:M04.1
database_cross_reference: MESH:D054078
database_cross_reference: MIM:610377
database_cross_reference: NCI:C84890
database_cross_reference: ORDO:29
database_cross_reference: SNOMEDCT_US_2025_09_01:124327008
database_cross_reference: SNOMEDCT_US_2025_09_01:234538002
database_cross_reference: UMLS_CUI:C0342731
database_cross_reference: UMLS_CUI:C0398691
database_cross_reference: UMLS_CUI:C1959626
has_exact_synonym: Mevalonate Kinase Deficiency
has_obo_namespace: disease_ontology
id: DOID:0050452
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria
annotated property: definition
annotated source: mevalonic aciduria
annotated target: 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.

lissencephaly
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: congenital nervous system abnormality
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000956
definition: 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.
database_cross_reference: GARD:12291
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: MESH:D054082
database_cross_reference: MIM:PS607432
database_cross_reference: NCI:C103921
database_cross_reference: ORDO:102009
database_cross_reference: SNOMEDCT_US_2025_09_01:204036008
database_cross_reference: SNOMEDCT_US_2025_09_01:23024003
database_cross_reference: UMLS_CUI:C0266463
database_cross_reference: UMLS_CUI:C0266483
has_obo_namespace: disease_ontology
id: DOID:0050453
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

congenital nervous system abnormality
type: Class
subclass of: nervous system disease
subclass of: physical disorder
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001016
database_cross_reference: ICD9CM:742
database_cross_reference: SNOMEDCT_US_2025_09_01:204018008
database_cross_reference: UMLS_CUI:C0158538
has_exact_synonym: congenital neurologic anomaly
has_obo_namespace: disease_ontology
id: DOID:2490

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lissencephaly
database_cross_reference: url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm
annotated property: definition
annotated source: lissencephaly
annotated target: 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.

periventricular nodular heterotopia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: congenital nervous system abnormality
definition: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
database_cross_reference: MESH:D054091
database_cross_reference: MIM:PS300049
database_cross_reference: NCI:C202072
database_cross_reference: ORDO:98892
database_cross_reference: SNOMEDCT_US_2025_09_01:448227009
database_cross_reference: SNOMEDCT_US_2025_09_01:816068000
database_cross_reference: UMLS_CUI:C1848213
database_cross_reference: UMLS_CUI:C1868720
has_exact_synonym: periventricular heterotopia
has_obo_namespace: disease_ontology
id: DOID:0050454
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/periventricular-heterotopia
annotated property: definition
annotated source: periventricular nodular heterotopia
annotated target: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

obsolete arachnodactyly
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050455
owl:deprecated: true

Buruli ulcer disease
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 1809
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000005
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000092
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000132
definition: 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.
database_cross_reference: GARD:9520
database_cross_reference: ICD10CM:A31.1
database_cross_reference: MESH:D054312
database_cross_reference: NCI:C84604
database_cross_reference: SNOMEDCT_US_2025_09_01:186343005
database_cross_reference: UMLS_CUI:C0085568
has_exact_synonym: Bairnsdale ulcer
has_exact_synonym: Daintree ulcer
has_exact_synonym: Mossman ulcer
has_exact_synonym: Searl ulcer
has_exact_synonym: Searle's ulcer
has_obo_namespace: disease_ontology
id: DOID:0050456
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Buruli_ulcer
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs199/en/
annotated property: definition
annotated source: Buruli ulcer disease
annotated target: 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.

Sertoli cell-only syndrome
type: Class
comment: 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.
subclass of: male infertility
definition: A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
database_cross_reference: GARD:8406
database_cross_reference: MESH:D054331
database_cross_reference: NCI:C168988
database_cross_reference: SNOMEDCT_US_2025_09_01:1356856009
database_cross_reference: UMLS_CUI:C1384583
has_exact_synonym: DEL CASTILLO SYNDROME
has_exact_synonym: Germinal Cell Aplasia
has_obo_namespace: disease_ontology
id: DOID:0050457
in_subset: DO_rare_slim
in_subset: NCIthesaurus

male infertility
type: Class
subclass of: male reproductive system disease
database_cross_reference: ICD10CM:N46
database_cross_reference: ICD9CM:606
database_cross_reference: MESH:D007248
database_cross_reference: SNOMEDCT_US_2025_09_01:155924001
database_cross_reference: UMLS_CUI:C0021364
has_obo_namespace: disease_ontology
id: DOID:12336

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome
annotated property: definition
annotated source: Sertoli cell-only syndrome
annotated target: A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.

juvenile myelomonocytic leukemia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: myelodysplastic/myeloproliferative neoplasm
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011462
definition: A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
database_cross_reference: GARD:9884
database_cross_reference: ICD10CM:C93.3
database_cross_reference: ICDO:9946/3
database_cross_reference: MESH:D054429
database_cross_reference: MIM:607785
database_cross_reference: NCI:C9233
database_cross_reference: SNOMEDCT_US_2025_09_01:445227008
database_cross_reference: UMLS_CUI:C0349639
has_obo_namespace: disease_ontology
id: DOID:0050458
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

myelodysplastic/myeloproliferative neoplasm
type: Class
subclass of: DOID_0070004
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_616871
definition: A myeloid neoplasm that results_in the overproduction of white blood cells.
has_alternative_id: DOID:6470
database_cross_reference: MESH:D054437
database_cross_reference: NCI:C27262
database_cross_reference: SNOMEDCT_US_2025_09_01:445738007
database_cross_reference: UMLS_CUI:C1301355
has_exact_synonym: Myeloproliferative/Myelodysplastic syndromes
has_exact_synonym: myelodysplastic myeloproliferative cancer
has_obo_namespace: disease_ontology
has_related_synonym: myelodysplastic myeloproliferative disease
id: DOID:4972
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/
annotated property: definition
annotated source: juvenile myelomonocytic leukemia
annotated target: A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.

hyperphosphatemia
type: Class
subclass of: phosphorus metabolism disease
definition: 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.
database_cross_reference: MESH:D054559
database_cross_reference: NCI:C113750
database_cross_reference: SNOMEDCT_US_2025_09_01:20165001
database_cross_reference: UMLS_CUI:C0085681
has_obo_namespace: disease_ontology
id: DOID:0050459
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis
annotated property: definition
annotated source: hyperphosphatemia
annotated target: 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.

Wolf-Hirschhorn syndrome
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: chromosomal deletion syndrome
definition: 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.
has_alternative_id: DOID:6684
database_cross_reference: GARD:7896
database_cross_reference: ICD10CM:Q93.3
database_cross_reference: MESH:D054877
database_cross_reference: MIM:194190
database_cross_reference: NCI:C35528
database_cross_reference: ORDO:280
database_cross_reference: SNOMEDCT_US_2025_09_01:17122004
database_cross_reference: UMLS_CUI:C0796117
database_cross_reference: UMLS_CUI:C1956097
has_exact_synonym: 4p deletion syndrome
has_exact_synonym: PITT SYNDROME
has_exact_synonym: Pitt-Rogers-Danks Syndrome
has_exact_synonym: chromosome 4p16.3 deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0050460
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

chromosomal deletion syndrome
type: Class
subclass of: DOID_0080014
definition: A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
creation_date: 2015-09-28T15:48:41Z
has_obo_namespace: disease_ontology
id: DOID:0060388
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: SO_0000159
  intersection of: Restriction
    on property: has material basis in
    some values from: SO_0000340

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome
annotated property: definition
annotated source: Wolf-Hirschhorn syndrome
annotated target: 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.

aspartylglucosaminuria
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: lysosomal storage disease
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: 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.
database_cross_reference: GARD:5854
database_cross_reference: ICD10CM:E77.1
database_cross_reference: MESH:D054880
database_cross_reference: MIM:208400
database_cross_reference: NCI:C61273
database_cross_reference: SNOMEDCT_US_2025_09_01:54954004
database_cross_reference: UMLS_CUI:C0268225
has_exact_synonym: aspartylglucosaminidase deficiency
has_exact_synonym: aspartylglycosaminuria
has_exact_synonym: glycosylasparaginase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050461
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria
annotated property: definition
annotated source: aspartylglucosaminuria
annotated target: 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.

Antley-Bixler syndrome with disordered steroidogenesis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Antley-Bixler syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0004019
  some values from: SYMP_0000462
definition: 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.
database_cross_reference: MIM:201750
database_cross_reference: SNOMEDCT_US_2021_09_01:62964007
has_exact_synonym: trapezoidocephaly-synostosis syndrome
has_obo_namespace: disease_ontology
id: DOID:0050462

Antley-Bixler syndrome
type: Class
subclass of: DOID 2340
definition: A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.
database_cross_reference: GARD:5826
has_exact_synonym: Antley Bixler syndrome
has_exact_synonym: Antley and Bixler's syndrome
has_obo_namespace: disease_ontology
id: DOID:0081289
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Antley-Bixler_syndrome
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35070845/
annotated property: definition
annotated source: Antley-Bixler syndrome with disordered steroidogenesis
annotated target: 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.

campomelic dysplasia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: osteochondrodysplasia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000979
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000981
definition: 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.
database_cross_reference: GARD:10027
database_cross_reference: MESH:D055036
database_cross_reference: MIM:114290
database_cross_reference: NCI:C120205
database_cross_reference: NCI:C84609
database_cross_reference: ORDO:140
database_cross_reference: UMLS_CUI:C1861922
database_cross_reference: UMLS_CUI:C1861923
has_exact_synonym: Acampomelic Campomelic Dysplasia
has_obo_namespace: disease_ontology
id: DOID:0050463
in_subset: DO_rare_slim
in_subset: NCIthesaurus

osteochondrodysplasia
type: Class
subclass of: bone development disease
subclass of: cartilage disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001474
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002418
definition: A bone development disease that results_in defective development of cartilage or bone.
has_alternative_id: DOID:1764
database_cross_reference: MESH:D010009
database_cross_reference: ICD10CM:Q78.9
database_cross_reference: ICD9CM:756.4
database_cross_reference: NCI:C34466
database_cross_reference: NCI:C84978
database_cross_reference: SNOMEDCT_US_2025_09_01:205510001
database_cross_reference: SNOMEDCT_US_2025_09_01:67988000
database_cross_reference: UMLS_CUI:C0008449
database_cross_reference: UMLS_CUI:C0029422
has_exact_synonym: Cartilage Development disorder
has_exact_synonym: Congenital anomaly of cartilage
has_exact_synonym: Osteochondrodysplasia syndrome
has_exact_synonym: chondrodystrophy
has_exact_synonym: skeletal dysplasia
has_obo_namespace: disease_ontology
id: DOID:2256
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0002200
    some values from: HP_0002652

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Campomelic_dysplasia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/campomelic-dysplasia
database_cross_reference: url:http://www.healthline.com/galecontent/campomelic-dysplasia-1
annotated property: definition
annotated source: campomelic dysplasia
annotated target: 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.

Farber lipogranulomatosis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: lipid storage disease
definition: 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.
database_cross_reference: GARD:6426
database_cross_reference: MESH:D055577
database_cross_reference: MIM:228000
database_cross_reference: NCI:C84710
database_cross_reference: SNOMEDCT_US_2025_09_01:79935000
database_cross_reference: UMLS_CUI:C0268255
has_exact_synonym: Farber disease
has_exact_synonym: N-laurylsphingosine deacylase deficiency
has_exact_synonym: acid ceramidase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050464
in_subset: DO_rare_slim
in_subset: NCIthesaurus

lipid storage disease
type: Class
subclass of: lysosomal storage disease
definition: A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
has_alternative_id: DOID:10583
database_cross_reference: ICD10CM:E75.6
database_cross_reference: ICD9CM:272.7
database_cross_reference: ICD9CM:272.8
database_cross_reference: MESH:D008064
database_cross_reference: SNOMEDCT_US_2025_09_01:11455007
database_cross_reference: SNOMEDCT_US_2025_09_01:154744007
database_cross_reference: UMLS_CUI:C0023794
database_cross_reference: UMLS_CUI:C0029591
has_exact_synonym: Lipoid storage diseas
has_exact_synonym: inborn lipid storage disorder
has_exact_synonym: lipoidosis
has_obo_namespace: disease_ontology
id: DOID:9455

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Farber_disease
annotated property: definition
annotated source: Farber lipogranulomatosis
annotated target: 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.

Muir-Torre syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: Lynch syndrome
definition: 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.
database_cross_reference: GARD:6821
database_cross_reference: MESH:D055653
database_cross_reference: MIM:158320
database_cross_reference: NCI:C84905
database_cross_reference: SNOMEDCT_US_2025_09_01:403824007
database_cross_reference: UMLS_CUI:C1321489
has_obo_namespace: disease_ontology
id: DOID:0050465
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Lynch syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
has_alternative_id: DOID:0050586
has_alternative_id: DOID:3040
database_cross_reference: MESH:D003123
database_cross_reference: GARD:9905
database_cross_reference: MIM:PS120435
database_cross_reference: NCI:C8494
database_cross_reference: ORDO:144
database_cross_reference: SNOMEDCT_US_2025_09_01:315058005
database_cross_reference: UMLS_CUI:C0009405
database_cross_reference: UMLS_CUI:C4552100
has_exact_synonym: HNPCC
has_exact_synonym: Hereditary Defective Mismatch Repair syndrome
has_exact_synonym: Hereditary non-polyposis colon cancer
has_exact_synonym: Hereditary non-polyposis colon cancer syndrome
has_exact_synonym: Hereditary non-polyposis colorectal cancer
has_exact_synonym: Hereditary non-polyposis colorectal cancer syndrome
has_exact_synonym: Hereditary nonpolyposis colon cancer
has_exact_synonym: Hereditary nonpolyposis colon cancer syndrome
has_exact_synonym: Hereditary nonpolyposis colorectal cancer syndrome
has_exact_synonym: hereditary nonpolyposis colorectal cancer
has_exact_synonym: hereditary nonpolyposis colorectal neoplasm
has_obo_namespace: disease_ontology
id: DOID:3883
in_subset: DO_rare_slim
in_subset: NCIthesaurus
has broader match: NCI:C120083
has broader match: ORDO:443909
has broader match: UMLS_CUI:C1333990

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome
annotated property: definition
annotated source: Muir-Torre syndrome
annotated target: 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.

Loeys-Dietz syndrome
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:10788
database_cross_reference: MESH:D055947
database_cross_reference: NCI:C75006
database_cross_reference: ORDO:60030
database_cross_reference: SNOMEDCT_US_2025_09_01:446263001
database_cross_reference: UMLS_CUI:C1836635
database_cross_reference: UMLS_CUI:C2697932
has_obo_namespace: disease_ontology
id: DOID:0050466
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome
annotated property: definition
annotated source: Loeys-Dietz syndrome
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: skin disease
subclass of: monogenic disease
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: 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.
database_cross_reference: MESH:D056266
database_cross_reference: MIM:PS133200
database_cross_reference: NCI:C84696
database_cross_reference: ORDO:317
database_cross_reference: SNOMEDCT_US_2025_09_01:70041004
database_cross_reference: UMLS_CUI:C0265961
database_cross_reference: UMLS_CUI:C1851480
has_exact_synonym: Erythrokeratodermia Figurata Variabilis
has_exact_synonym: Greither Disease
has_obo_namespace: disease_ontology
id: DOID:0050467
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis
annotated property: definition
annotated source: erythrokeratodermia variabilis
annotated target: 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.

yellow nail syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: skin disease
subclass of: syndrome
subclass of: nail disease
subclass of: Class
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001705
definition: 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.
database_cross_reference: GARD:184
database_cross_reference: ICD10CM:L60.5
database_cross_reference: MESH:D056684
database_cross_reference: MIM:153300
database_cross_reference: NCI:C85238
database_cross_reference: SNOMEDCT_US_2025_09_01:400211001
database_cross_reference: UMLS_CUI:C0221348
has_obo_namespace: disease_ontology
id: DOID:0050468
in_subset: DO_rare_slim
in_subset: NCIthesaurus

nail disease
type: Class
subclass of: integumentary system disease
definition: An integumentary system disease that is located_in nail.
database_cross_reference: ICD10CM:L60
database_cross_reference: ICD9CM:703
database_cross_reference: MESH:D009260
database_cross_reference: SNOMEDCT_US_2025_09_01:17790008
database_cross_reference: UMLS_CUI:C0027339
has_obo_namespace: disease_ontology
id: DOID:4123
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001705

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28241848
annotated property: definition
annotated source: yellow nail syndrome
annotated target: 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.

Costello syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: RASopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
database_cross_reference: GARD:1550
database_cross_reference: MESH:D056685
database_cross_reference: MIM:218040
database_cross_reference: NCI:C84652
database_cross_reference: SNOMEDCT_US_2025_09_01:205803001
database_cross_reference: UMLS_CUI:C0587248
has_exact_synonym: FCS SYNDROME
has_exact_synonym: Faciocutaneoskeletal Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050469
in_subset: DO_rare_slim
in_subset: NCIthesaurus

RASopathy
type: Class
subclass of: syndrome
definition: A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
has_exact_synonym: RAS/mitogen-activated protein kinase syndrome
has_obo_namespace: disease_ontology
id: DOID:0080690

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17250658
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/907573
annotated property: definition
annotated source: Costello syndrome
annotated target: A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.

Donohue syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MESH:D056731
database_cross_reference: MIM:246200
database_cross_reference: NCI:C131000
database_cross_reference: NCI:C84676
database_cross_reference: ORDO:508
database_cross_reference: SNOMEDCT_US_2025_09_01:111307005
database_cross_reference: SNOMEDCT_US_2025_09_01:33559001
database_cross_reference: UMLS_CUI:C0265344
database_cross_reference: UMLS_CUI:C0271695
has_exact_synonym: Leprechaunism
has_obo_namespace: disease_ontology
id: DOID:0050470
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Donohue_syndrome
annotated property: definition
annotated source: Donohue syndrome
annotated target: 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.

Carney complex
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
database_cross_reference: GARD:1119
database_cross_reference: MESH:D056733
database_cross_reference: MIM:160980
database_cross_reference: MIM:605244
database_cross_reference: MIM:608837
database_cross_reference: NCI:C4705
database_cross_reference: ORDO:1359
database_cross_reference: SNOMEDCT_US_2025_09_01:733491005
database_cross_reference: UMLS_CUI:C0406810
database_cross_reference: UMLS_CUI:C1854540
database_cross_reference: UMLS_CUI:C2607929
has_exact_synonym: Carney Complex, Type 1
has_exact_synonym: Carney Complex, Type 2
has_exact_synonym: Carney Syndrome
has_exact_synonym: Carney complex variant
has_exact_synonym: LAMB Syndrome
has_exact_synonym: NAME Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050471
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Carney_complex
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/carney-complex
annotated property: definition
annotated source: Carney complex
annotated target: A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

monilethrix
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: hair disease
subclass of: autosomal dominant disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:93
database_cross_reference: ICD10CM:Q84.1
database_cross_reference: MESH:D056734
database_cross_reference: NCI:C84894
database_cross_reference: SNOMEDCT_US_2025_09_01:69488000
database_cross_reference: UMLS_CUI:C0546966
has_obo_namespace: disease_ontology
id: DOID:0050472
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/monilethrix
annotated property: definition
annotated source: monilethrix
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000008
definition: 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.
database_cross_reference: MESH:D056769
database_cross_reference: MIM:203800
database_cross_reference: NCI:C84549
database_cross_reference: SNOMEDCT_US_2025_09_01:63702009
database_cross_reference: UMLS_CUI:C0268425
has_obo_namespace: disease_ontology
id: DOID:0050473
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Alstrom_syndrome
annotated property: definition
annotated source: Alstrom syndrome
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: skin disease
subclass of: autosomal recessive disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: 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.
database_cross_reference: GARD:7182
database_cross_reference: MIM:256500
database_cross_reference: ORDO:634
database_cross_reference: SNOMEDCT_US_2025_09_01:312514006
database_cross_reference: UMLS_CUI:C0265962
has_obo_namespace: disease_ontology
id: DOID:0050474
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/netherton-syndrome
annotated property: definition
annotated source: Netherton syndrome
annotated target: 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
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
subclass of: autosomal genetic disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000934
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
database_cross_reference: GARD:4936
database_cross_reference: MESH:D056846
database_cross_reference: MIM:PS277600
database_cross_reference: NCI:C85226
database_cross_reference: ORDO:3449
database_cross_reference: SNOMEDCT_US_2025_09_01:205801004
database_cross_reference: UMLS_CUI:C0265313
database_cross_reference: UMLS_CUI:C1869114
database_cross_reference: UMLS_CUI:C1869115
has_exact_synonym: GEMSS syndrome
has_exact_synonym: Marchesani-Weill Syndrome
has_exact_synonym: Mesodermal Dysmorphodystrophy, Congenital
has_exact_synonym: Spherophakia Brachymorphia Syndrome
has_exact_synonym: congenital mesodermal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050475
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome
annotated property: definition
annotated source: Weill-Marchesani syndrome
annotated target: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Barth syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: 3-methylglutaconic aciduria
subclass of: X-linked recessive disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: GARD:5890
database_cross_reference: ICD10CM:E78.71
database_cross_reference: MESH:D056889
database_cross_reference: MIM:302060
database_cross_reference: NCI:C84585
database_cross_reference: ORDO:111
database_cross_reference: SNOMEDCT_US_2025_09_01:297231002
database_cross_reference: UMLS_CUI:C0574083
has_exact_synonym: 3-methylglutaconicaciduria type 2
has_exact_synonym: 3-methylglutaconicaciduria type II
has_exact_synonym: MGA Type 2
has_exact_synonym: MGA type II
has_obo_namespace: disease_ontology
id: DOID:0050476
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

3-methylglutaconic aciduria
type: Class
subclass of: organic acidemia
definition: An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
creation_date: 2015-04-16T10:50:48Z
database_cross_reference: ICD10CM:E71.111
database_cross_reference: MESH:C579867
database_cross_reference: MIM:PS250950
database_cross_reference: ORDO:289902
has_obo_namespace: disease_ontology
id: DOID:0060336
in_subset: DO_rare_slim

X-linked recessive disease
type: Class
subclass of: X-linked monogenic disease
definition: A X-linked monogenic disease that has_material_basis_in recessive inheritance.
has_obo_namespace: disease_ontology
id: DOID:0080012
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000149

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Barth_syndrome
database_cross_reference: url:http://www.ninds.nih.gov/disorders/barth/barth.htm
annotated property: definition
annotated source: Barth syndrome
annotated target: 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.

Liddle syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: renal tubular transport disease
definition: 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.
database_cross_reference: GARD:7381
database_cross_reference: MESH:D056929
database_cross_reference: MIM:177200
database_cross_reference: NCI:C84827
database_cross_reference: SNOMEDCT_US_2025_09_01:707749005
database_cross_reference: UMLS_CUI:C0221043
has_exact_synonym: Liddle's syndrome
has_exact_synonym: Pseudoaldosteronism
has_obo_namespace: disease_ontology
id: DOID:0050477
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Liddle%27s_syndrome
annotated property: definition
annotated source: Liddle syndrome
annotated target: 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.

obsolete primary Escherichia coli infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050478
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

obsolete commensal Klebsiella infectious disease
type: Class
has_exact_synonym: Klebsiella infection
has_obo_namespace: disease_ontology
id: DOID:0050479
in_subset: gram-negative_bacterial_infectious_disease
owl:deprecated: true

epidemic typhus
type: Class
subclass of: typhus
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 782
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_121224
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000020
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000021
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000210
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000389
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000882
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
definition: 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.
has_exact_synonym: sylvatic typhus
has_obo_namespace: disease_ontology
id: DOID:0050480
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

typhus
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 780
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000020
definition: 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.
has_alternative_id: DOID:11255
has_alternative_id: DOID:12353
database_cross_reference: MESH:D014438
database_cross_reference: GARD:7833
database_cross_reference: ICD10CM:A75.0
database_cross_reference: ICD10CM:A75.2
database_cross_reference: ICD10CM:A75.9
database_cross_reference: ICD9CM:080
database_cross_reference: ICD9CM:081.0
database_cross_reference: ICD9CM:081.9
database_cross_reference: MESH:D014437
database_cross_reference: NCI:C84688
database_cross_reference: NCI:C84689
database_cross_reference: SNOMEDCT_US_2025_09_01:154375001
database_cross_reference: SNOMEDCT_US_2025_09_01:25668000
database_cross_reference: SNOMEDCT_US_2025_09_01:39111003
database_cross_reference: UMLS_CUI:C0041471
database_cross_reference: UMLS_CUI:C0041472
database_cross_reference: UMLS_CUI:C0041473
has_exact_synonym: Endemic Typhus fever
has_exact_synonym: Exanthematic Typhus fever
has_exact_synonym: Flea typhus
has_exact_synonym: Louse-borne [epidemic] typhus
has_exact_synonym: Moscow typhus
has_exact_synonym: Murine [endemic] typhus
has_exact_synonym: Typhus fever
has_exact_synonym: endemic flea-borne typhus
has_exact_synonym: epidemic louse-borne typhus
has_obo_namespace: disease_ontology
has_related_synonym: Shop typhus
has_related_synonym: Classical typhus
has_related_synonym: Epidemic (louse-borne) typhus
has_related_synonym: Epidemic louse-borne typhus fever due to Rickettsia prowazekii
has_related_synonym: European typhus
has_related_synonym: Exanthematous typhus
has_related_synonym: Famine fever
has_related_synonym: Flea-borne rickettsiosis
has_related_synonym: Flea-borne typhus
has_related_synonym: Hospital fever
has_related_synonym: Jail fever
has_related_synonym: Louse-borne rickettsiosis
has_related_synonym: Louse-borne typhus
has_related_synonym: Mexican typhus
has_related_synonym: Murine typhus
has_related_synonym: Petechial fever
has_related_synonym: Prison fever
has_related_synonym: Rat flea typhus
has_related_synonym: Ship fever
has_related_synonym: Typhus exanthematique
has_related_synonym: Urban typhus
id: DOID:11256
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Epidemic_typhus
annotated property: definition
annotated source: epidemic typhus
annotated target: 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.

endemic typhus
type: Class
subclass of: typhus
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_42862
    union of: NCBITaxon 785
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_163159
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000023
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
definition: 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.
has_alternative_id: DOID:0050028
has_alternative_id: DOID:0050029
has_alternative_id: DOID:0050030
has_alternative_id: DOID:0050057
has_alternative_id: DOID:0050058
has_exact_synonym: Rat-Flea Typhus
has_exact_synonym: Rickettsia felis spotted fever
has_exact_synonym: Urban Typhus of Malaya
has_exact_synonym: cat flea rickettsiosis
has_exact_synonym: fleaborne typhus
has_exact_synonym: murine typhus
has_exact_synonym: toulon typhus
has_exact_synonym: urban typhus
has_obo_namespace: disease_ontology
has_related_synonym: Shop typhus
id: DOID:0050481
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Murine_typhus
annotated property: definition
annotated source: endemic typhus
annotated target: 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.

obsolete lymphangitis-associated rickettsiosis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050482
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease
owl:deprecated: true

obsolete Rickettsia aeschlimannii spotted fever
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050483
owl:deprecated: true

aneruptive fever
type: Class
subclass of: spotted fever
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_35789
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon 6944
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000024
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
has_exact_synonym: Rickettsia helvetica spotted fever
has_obo_namespace: disease_ontology
id: DOID:0050484
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://jcm.asm.org/cgi/reprint/42/2/816
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html
annotated property: definition
annotated source: aneruptive fever
annotated target: 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.

sennetsu fever
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 951
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000012
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000006
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000047
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000521
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000523
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019142
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019176
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
definition: 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.
database_cross_reference: GARD:120
database_cross_reference: MESH:C537582
has_exact_synonym: Sennetsu ehrlichiosis
has_obo_namespace: disease_ontology
id: DOID:0050485
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
database_cross_reference: url:https://rarediseases.org/rare-diseases/sennetsu-fever/
annotated property: definition
annotated source: sennetsu fever
annotated target: 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.

exanthem
type: Class
subclass of: skin disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
definition: A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
database_cross_reference: MESH:D005076
database_cross_reference: NCI:C111884
database_cross_reference: UMLS_CUI:C0015230
has_obo_namespace: disease_ontology
id: DOID:0050486
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Exanthem
annotated property: definition
annotated source: exanthem
annotated target: 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
type: Class
subclass of: bacterial infectious disease
subclass of: exanthem
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 2
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050487
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Scarlet_fever#Rash
annotated property: definition
annotated source: bacterial exanthem
annotated target: 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
type: Class
subclass of: congenital syphilis
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000018
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000047
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000051
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000092
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000124
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000465
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000521
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019142
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019173
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
subclass of: Restriction
  on property: RO_0004029
  some values from: intellectual disability
subclass of: Restriction
  on property: RO_0004029
  some values from: choroiditis
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050488
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease

congenital syphilis
type: Class
subclass of: physical disorder
subclass of: DOID 4166
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000018
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A syphilis that results_in a multisystem infection in the fetus via the placenta.
database_cross_reference: ICD10CM:A50
database_cross_reference: ICD9CM:090
database_cross_reference: MESH:D013590
database_cross_reference: NCI:C84649
database_cross_reference: SNOMEDCT_US_2025_09_01:154380005
database_cross_reference: UMLS_CUI:C0039131
has_obo_namespace: disease_ontology
id: DOID:9856
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
in_subset: gram-negative_bacterial_infectious_disease

intellectual disability
type: Class
comment: OMIM mapping submitted by NeuroDevNet. [LS].
subclass of: specific developmental disorder
definition: 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.
database_cross_reference: NCI:C84392
database_cross_reference: SNOMEDCT_US_2025_09_01:1855002
database_cross_reference: UMLS_CUI:C0025362
has_obo_namespace: disease_ontology
has_related_synonym: mental retardation
id: DOID:1059
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

choroiditis
type: Class
subclass of: DOID 1417
database_cross_reference: ICD10CM:H30.9
database_cross_reference: GARD:6062
database_cross_reference: MESH:D002833
database_cross_reference: NCI:C35111
database_cross_reference: SNOMEDCT_US_2025_09_01:16553002
database_cross_reference: UMLS_CUI:C0008526
has_obo_namespace: disease_ontology
id: DOID:11406
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html
annotated property: definition
annotated source: early congenital syphilis
annotated target: 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.

multinodular goiter
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: goiter
definition: A goiter characterized by a multinodular enlargement of the thyroid gland.
database_cross_reference: MIM:138800
database_cross_reference: MIM:300273
database_cross_reference: MIM:606082
database_cross_reference: MIM:PS138800
database_cross_reference: ORDO:276399
has_obo_namespace: disease_ontology
id: DOID:0050489
in_subset: DO_rare_slim

goiter
type: Class
subclass of: DOID 50
definition: A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
database_cross_reference: ICD10CM:E04.9
database_cross_reference: ICD9CM:240.9
database_cross_reference: MESH:D006042
database_cross_reference: NCI:C26785
database_cross_reference: SNOMEDCT_US_2025_09_01:237568003
database_cross_reference: UMLS_CUI:C0018021
has_exact_synonym: goitre
has_obo_namespace: disease_ontology
id: DOID:12176
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Multinodular_goitre
annotated property: definition
annotated source: multinodular goiter
annotated target: A goiter characterized by a multinodular enlargement of the thyroid gland.

parenchymatous neurosyphilis
type: Class
subclass of: tertiary neurosyphilis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000075
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000571
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000654
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020029
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050490
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: sexually_transmitted_infectious_disease

tertiary neurosyphilis
type: Class
subclass of: brain disease
subclass of: spinal cord disease
subclass of: tertiary syphilis
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000007
definition: A tertiary syphilis that results in infection located in brain or located in spinal cord.
database_cross_reference: MESH:D009494
database_cross_reference: ICD10CM:A52.3
database_cross_reference: ICD9CM:094
database_cross_reference: NCI:C84935
database_cross_reference: SNOMEDCT_US_2025_09_01:154384001
database_cross_reference: UMLS_CUI:C0027927
has_exact_synonym: late neurosyphilis
has_obo_namespace: disease_ontology
id: DOID:9988
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
in_subset: gram-negative_bacterial_infectious_disease
in_subset: sexually_transmitted_infectious_disease
equivalent class: Class
  intersection of: tertiary syphilis
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000955
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002240

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh
annotated property: definition
annotated source: parenchymatous neurosyphilis
annotated target: 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.

meningovascular neurosyphilis
type: Class
subclass of: tertiary neurosyphilis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000030
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000383
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000492
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000543
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000571
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000610
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000719
subclass of: Restriction
  on property: RO_0004029
  some values from: muscular atrophy
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050491
in_subset: DO_infectious_disease_slim
in_subset: gram-negative_bacterial_infectious_disease
in_subset: sexually_transmitted_infectious_disease

muscular atrophy
type: Class
subclass of: myopathy
database_cross_reference: SNOMEDCT_US_2025_09_01:267693003
database_cross_reference: MESH:D009133
database_cross_reference: NCI:C94834
database_cross_reference: UMLS_CUI:C0026846
has_exact_synonym: Amyotrophia
has_exact_synonym: Muscle wasting
has_exact_synonym: Wasting - muscle
has_obo_namespace: disease_ontology
id: DOID:767
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh
annotated property: definition
annotated source: meningovascular neurosyphilis
annotated target: 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.

obsolete tertiary syphilitic encephalitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050492
in_subset: gram-negative_bacterial_infectious_disease
in_subset: sexually_transmitted_infectious_disease
owl:deprecated: true

obsolete tertiary syphilitic meningitis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050493
in_subset: gram-negative_bacterial_infectious_disease
in_subset: sexually_transmitted_infectious_disease
owl:deprecated: true

obsolete Papillomaviridae infectious disease
type: Class
definition: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses.
has_obo_namespace: disease_ontology
id: DOID:0050494
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Papillomaviridae
annotated property: definition
annotated source: obsolete Papillomaviridae infectious disease
annotated target: A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses.

exanthema subitum
type: Class
subclass of: viral infectious disease
subclass of: Class
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_10368
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_3050297
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_3050298
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000882
definition: 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.
database_cross_reference: ICD10CM:B08.2
database_cross_reference: ICD9CM:058.1
database_cross_reference: MESH:D005077
database_cross_reference: NCI:C128420
database_cross_reference: SNOMEDCT_US_2025_09_01:54385001
database_cross_reference: UMLS_CUI:C0015231
has_exact_synonym: Roseola Infantum
has_exact_synonym: Sixth Disease
has_exact_synonym: exanthem subitum
has_obo_namespace: disease_ontology
id: DOID:0050495
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Exanthema_subitum
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK448190/
annotated property: definition
annotated source: exanthema subitum
annotated target: 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.

obsolete Banna virus encephalitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050496
owl:deprecated: true

obsolete Anelloviridae infectious disease
type: Class
definition: A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.
has_obo_namespace: disease_ontology
id: DOID:0050497
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Anelloviridae
annotated property: definition
annotated source: obsolete Anelloviridae infectious disease
annotated target: A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.

obsolete dsDNA virus infectious disease
type: Class
definition: A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.
has_exact_synonym: double stranded DNA virus infectious disease
has_exact_synonym: dsDNA virus infection
has_obo_namespace: disease_ontology
id: DOID:0050498
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated property: definition
annotated source: obsolete dsDNA virus infectious disease
annotated target: A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.

obsolete ssDNA virus infectious disease
type: Class
definition: A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.
has_exact_synonym: single stranded DNA virus infectious disease
has_exact_synonym: ssDNA virus infection
has_obo_namespace: disease_ontology
id: DOID:0050499
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated property: definition
annotated source: obsolete ssDNA virus infectious disease
annotated target: A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.

obsolete dsDNA-RT virus infectious disease
type: Class
definition: 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.
has_exact_synonym: double stranded DNA reverse transcribing virus infectious disease
has_exact_synonym: double stranded DNA-reverse transcribing virus infection
has_exact_synonym: dsDNA-RT virus infection
has_obo_namespace: disease_ontology
id: DOID:0050500
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated property: definition
annotated source: obsolete dsDNA-RT virus infectious disease
annotated target: 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.

obsolete dsRNA virus infectious disease
type: Class
definition: A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.
has_exact_synonym: double stranded RNA virus infectious disease
has_exact_synonym: dsRNA virus infection
has_obo_namespace: disease_ontology
id: DOID:0050501
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated property: definition
annotated source: obsolete dsRNA virus infectious disease
annotated target: A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.

obsolete (+)ssRNA virus infectious disease
type: Class
definition: 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.
has_exact_synonym: (+)ssRNA virus infection
has_exact_synonym: Positive Stranded ssRNA Virus infectious disease
has_exact_synonym: positive-sense single stranded RNA virus infectious disease
has_exact_synonym: positive-sense ssRNA virus infection
has_exact_synonym: positive-sense ssRNA virus infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050502
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated property: definition
annotated source: obsolete (+)ssRNA virus infectious disease
annotated target: 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.

obsolete (-)ssRNA virus infectious disease
type: Class
definition: 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.
has_exact_synonym: (-)ssRNA virus infection
has_exact_synonym: Negative Stranded ssRNA Virus infectious disease
has_exact_synonym: negative-sense single stranded RNA virus infectious disease
has_exact_synonym: negative-sense ssRNA virus infection
has_exact_synonym: negative-sense ssRNA virus infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050503
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated property: definition
annotated source: obsolete (-)ssRNA virus infectious disease
annotated target: 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.

obsolete ssRNA-RT virus infectious disease
type: Class
definition: 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.
has_exact_synonym: single stranded RNA reverse transcribing virus infectious disease
has_exact_synonym: ssRNA-RT virus infection
has_obo_namespace: disease_ontology
id: DOID:0050504
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification
annotated property: definition
annotated source: obsolete ssRNA-RT virus infectious disease
annotated target: 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.

obsolete human papilloma virus related anal squamous cell carcinoma
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050505
owl:deprecated: true

Axiom
database_cross_reference: url:http://www.infectagentscancer.com/content/5/1/17
annotated property: definition
annotated source: obsolete human papilloma virus related anal squamous cell carcinoma
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050506
owl:deprecated: true

Axiom
database_cross_reference: url:http://emedicine.medscape.com/article/219110-overview
database_cross_reference: url:http://emedicine.medscape.com/article/269188-overview
annotated property: definition
annotated source: obsolete human papilloma virus related vaginal squamous cell carcinoma
annotated target: 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
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050507
owl:deprecated: true

variola major
type: Class
subclass of: smallpox
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3431487
definition: 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.
database_cross_reference: ICD9CM:050.0
database_cross_reference: SNOMEDCT_US_2025_09_01:266193008
database_cross_reference: UMLS_CUI:C1812609
has_narrow_synonym: ordinary smallpox
has_obo_namespace: disease_ontology
id: DOID:0050508
in_subset: DO_infectious_disease_slim

smallpox
type: Class
subclass of: viral infectious disease
subclass of: skin disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3431487
subclass of: Restriction
  on property: RO_0002451
  some values from: Class
    union of: TRANS_0000007
    union of: TRANS_0000008
    union of: TRANS_0000011
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000014
definition: 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.
database_cross_reference: SNOMEDCT_US_2025_09_01:266193008
database_cross_reference: GARD:7444
database_cross_reference: ICD10CM:B03
database_cross_reference: ICD9CM:050
database_cross_reference: MESH:D012899
database_cross_reference: NCI:C35027
database_cross_reference: UMLS_CUI:C0037354
has_obo_namespace: disease_ontology
id: DOID:8736
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
has broader match: ORDO:438279

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://stacks.cdc.gov/view/cdc/26503
database_cross_reference: url:https://www.cdc.gov/smallpox/hcp/clinical-signs/index.html
database_cross_reference: url:https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK470418/
annotated property: definition
annotated source: variola major
annotated target: 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.

obsolete AIDS-related toxoplasmosis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050509
owl:deprecated: true

obsolete AIDS-related cystoisosporiasis
type: Class
has_exact_synonym: AIDS-related isosporiasis
has_obo_namespace: disease_ontology
id: DOID:0050510
owl:deprecated: true

obsolete Human torovirus gastroenteritis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050511
owl:deprecated: true

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.jstor.org/stable/30117350
annotated property: definition
annotated source: obsolete Human torovirus gastroenteritis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050512
owl:deprecated: true

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://jvi.asm.org/cgi/content/full/83/9/4631
database_cross_reference: url:http://www.cdc.gov/EID/content/15/9/1509.htm
annotated property: definition
annotated source: obsolete Saffold virus gastroenteritis
annotated target: 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
type: Class
subclass of: spinal cord disease
subclass of: paralytic poliomyelitis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000711
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000868
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002240
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050513
in_subset: DO_infectious_disease_slim

paralytic poliomyelitis
type: Class
subclass of: central nervous system disease
subclass of: poliomyelitis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000285
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001017
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050515
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Poliomyelitis
annotated property: definition
annotated source: spinal polio
annotated target: 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.

bulbospinal polio
type: Class
subclass of: paralytic poliomyelitis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000030
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000493
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000711
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000868
subclass of: Restriction
  on property: RO_0004026
  some values from: Class
    union of: UBERON_0002240
    union of: UBERON_0002298
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050514
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms
annotated property: definition
annotated source: bulbospinal polio
annotated target: 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
type: Class
subclass of: viral infectious disease
subclass of: Class
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_12080
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_12083
  union of: Restriction
    on property: has material basis in
    some values from: NCBITaxon_12086
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000285
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000383
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020055
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002257
definition: 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.
database_cross_reference: GARD:7413
database_cross_reference: ICD10CM:A80
database_cross_reference: ICD9CM:045
database_cross_reference: MESH:D011051
database_cross_reference: NCI:C35550
database_cross_reference: SNOMEDCT_US_2025_09_01:54839009
database_cross_reference: UMLS_CUI:C0032371
has_obo_namespace: disease_ontology
id: DOID:4953
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms
database_cross_reference: url:https://www.sciencedirect.com/topics/neuroscience/paralytic-polio
annotated property: definition
annotated source: paralytic poliomyelitis
annotated target: 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.

O'nyong-nyong fever
type: Class
comment: 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.
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3426312
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_62324
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon 7165
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019155
definition: 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.
database_cross_reference: ICD10CM:A92.1
database_cross_reference: SNOMEDCT_US_2025_09_01:85579005
database_cross_reference: UMLS_CUI:C0276286
has_exact_synonym: O'nyong nyong fever
has_exact_synonym: O'nyong'nyong fever
has_obo_namespace: disease_ontology
id: DOID:0050516
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false
database_cross_reference: url:https://doi.org/10.1016/0035-9203(60)90025-0
database_cross_reference: url:https://ph.health.mil/PHC%20Resource%20Library/Onyong-nyongVirus_FS_18-087-0517.pdf
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3293492/
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5694854/
annotated property: definition
annotated source: O'nyong-nyong fever
annotated target: 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.

Barmah Forest virus disease
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3426294
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050517
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
database_cross_reference: url:https://en.wikipedia.org/wiki/Barmah_Forest_virus
database_cross_reference: url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease
annotated property: definition
annotated source: Barmah Forest virus disease
annotated target: 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
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3426314
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon 7174
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
has_exact_synonym: Ross River virus disease
has_obo_namespace: disease_ontology
id: DOID:0050518
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ross_River_fever
database_cross_reference: url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ross-river-virus-disease
annotated property: definition
annotated source: Ross River fever
annotated target: 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.

obsolete Lymphocytic choriomeningitis virus meningitis
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050519
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm
annotated property: definition
annotated source: obsolete Lymphocytic choriomeningitis virus meningitis
annotated target: 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
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050520
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm
annotated property: definition
annotated source: obsolete Lymphocytic choriomeningitis virus meningoencephalitis
annotated target: 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
type: Class
subclass of: viral infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052429
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_41820
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000064
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000523
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
definition: 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.
database_cross_reference: ICD10CM:A93.0
database_cross_reference: MESH:D002044
database_cross_reference: SNOMEDCT_US_2025_09_01:72880002
database_cross_reference: UMLS_CUI:C0276386
has_obo_namespace: disease_ontology
id: DOID:0050521
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease
has broader match: MESH:D002044
has broader match: ICD9CM:066.3

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Oropouche_fever
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5923469/
database_cross_reference: url:https://wwwnc.cdc.gov/eid/article/13/6/06-1114_article
annotated property: definition
annotated source: Oropouche fever
annotated target: 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
type: Class
subclass of: Hantavirus hemorrhagic fever with renal syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3052477
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon_54292
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000367
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000511
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000731
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000760
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019161
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050522
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus
database_cross_reference: url:https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome
annotated property: definition
annotated source: Balkan hemorrhagic fever
annotated target: 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
type: Class
subclass of: viral infectious disease
subclass of: T-cell acute lymphoblastic leukemia
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_3428212
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000007
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000012
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000013
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: 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.
database_cross_reference: GARD:13103
database_cross_reference: ICD10CM:C91.5
database_cross_reference: ICDO:9827/3
database_cross_reference: MESH:D015459
database_cross_reference: NCI:C3184
database_cross_reference: SNOMEDCT_US_2025_09_01:77430005
database_cross_reference: UMLS_CUI:C0023493
has_exact_synonym: ATLL
has_exact_synonym: Adult T-cell leukemia/lymphoma (HTLV-1 positive)
has_exact_synonym: adult T-cell leukemia
has_obo_namespace: disease_ontology
id: DOID:0050523
in_subset: DO_cancer_slim
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

T-cell acute lymphoblastic leukemia
type: Class
subclass of: T-cell non-Hodgkin lymphoma
subclass of: DOID 9952
definition: An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.
has_alternative_id: DOID:5599
has_alternative_id: DOID:715
database_cross_reference: ICDO:9729/3
database_cross_reference: ICDO:9837/3
database_cross_reference: MESH:D015458
database_cross_reference: UMLS_CUI:C0023492
has_exact_synonym: Precursor T Lymphoblastic Leukemia
has_exact_synonym: T Acute Lymphoblastic Leukemia
has_exact_synonym: T-cell acute lymphocytic leukaemia
has_exact_synonym: T-cell leukemia
has_exact_synonym: T-cell lymphoblastic leukemia/lymphoma
has_exact_synonym: acute T cell leukemia
has_exact_synonym: precursor T-lymphoblastic lymphoma/leukemia
has_obo_namespace: disease_ontology
id: DOID:5603
in_subset: DO_cancer_slim
equivalent class: Class
  intersection of: DOID 9952
  intersection of: Restriction
    on property: has material basis in
    some values from: CL_0000084

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK558968/
annotated property: definition
annotated source: adult T-cell leukemia/lymphoma
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: adult T-cell leukemia/lymphoma
annotated target: ATLL

maturity-onset diabetes of the young
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: diabetes mellitus
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:3697
database_cross_reference: KEGG:04950
database_cross_reference: MESH:C562772
database_cross_reference: MIM:PS125850
database_cross_reference: NCI:C114769
database_cross_reference: ORDO:552
database_cross_reference: SNOMEDCT_US_2025_09_01:28453007
database_cross_reference: UMLS_CUI:C0342276
has_exact_synonym: MODY
has_exact_synonym: Mason-type diabetes
has_obo_namespace: disease_ontology
id: DOID:0050524
in_subset: DO_rare_slim
in_subset: NCIthesaurus
has related match: ICD10CM:E11.8

diabetes mellitus
type: Class
subclass of: glucose metabolism disease
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0000818
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000565
definition: 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.
has_alternative_id: DOID:0081062
database_cross_reference: ICD10CM:E08-E13
database_cross_reference: ICD9CM:250
database_cross_reference: MESH:D003920
database_cross_reference: NCI:C2985
database_cross_reference: SNOMEDCT_US_2025_09_01:267467004
database_cross_reference: UMLS_CUI:C0011849
has_exact_synonym: diabetes
has_obo_namespace: disease_ontology
id: DOID:9351
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young
annotated property: definition
annotated source: maturity-onset diabetes of the young
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: maturity-onset diabetes of the young
annotated target: MODY

obsolete acroosteolysis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: acro-osteolysis
has_obo_namespace: disease_ontology
has_related_synonym: Acroosteolysis syndrome
id: DOID:0050525
owl:deprecated: true

Gamstorp-Wohlfart syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: syndrome
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
definition: 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.
database_cross_reference: GARD:12353
database_cross_reference: MIM:137200
has_exact_synonym: autosomal recessive neuromyotonia and axonal neuropathy
has_exact_synonym: myokymia, myotonia and muscle wasting
has_obo_namespace: disease_ontology
id: DOID:0050526
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia
annotated property: definition
annotated source: Gamstorp-Wohlfart syndrome
annotated target: 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.

obsolete familial hypertriglyceridemia
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050527
owl:deprecated: true

nonphotosensitive trichothiodystrophy 4
type: Class
subclass of: autosomal recessive disease
subclass of: nonphotosensitive trichothiodystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:234050
has_exact_synonym: AMISH BRITTLE HAIR BRAIN SYNDROME
has_exact_synonym: BIDS syndrome
has_exact_synonym: HAIR-BRAIN SYNDROME
has_exact_synonym: TTD4
has_obo_namespace: disease_ontology
id: DOID:0050528

nonphotosensitive trichothiodystrophy
type: Class
subclass of: DOID_0111866
definition: A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.
has_obo_namespace: disease_ontology
id: DOID:0111867

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy
annotated property: definition
annotated source: nonphotosensitive trichothiodystrophy 4
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: nonphotosensitive trichothiodystrophy 4
annotated target: TTD4

adult spinal muscular atrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: spinal muscular atrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: 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.
database_cross_reference: ICD10CM:G12.1
database_cross_reference: MESH:C563948
database_cross_reference: MIM:271150
database_cross_reference: ORDO:83420
database_cross_reference: UMLS_CUI:C1838230
has_exact_synonym: SMA4
has_exact_synonym: SPINAL MUSCULAR ATROPHY, ADULT FORM
has_exact_synonym: SPINAL MUSCULAR ATROPHY, TYPE IV
has_exact_synonym: spinal muscular atrophy 4
has_obo_namespace: disease_ontology
id: DOID:0050529
in_subset: DO_rare_slim

spinal muscular atrophy
type: Class
subclass of: DOID 231
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002257
definition: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
database_cross_reference: GARD:7674
database_cross_reference: MESH:D009134
database_cross_reference: ICD10CM:G12.9
database_cross_reference: ICD9CM:335.1
database_cross_reference: NCI:C85075
database_cross_reference: SNOMEDCT_US_2025_09_01:5262007
database_cross_reference: UMLS_CUI:C0026847
has_obo_namespace: disease_ontology
id: DOID:12377
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
annotated property: definition
annotated source: adult spinal muscular atrophy
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: adult spinal muscular atrophy
annotated target: SMA4

intermediate spinal muscular atrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: childhood spinal muscular atrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011463
definition: 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.
database_cross_reference: MESH:D014897
database_cross_reference: MIM:253550
database_cross_reference: NCI:C156310
database_cross_reference: SNOMEDCT_US_2025_09_01:128212001
database_cross_reference: UMLS_CUI:C0393538
has_exact_synonym: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
has_exact_synonym: MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
has_exact_synonym: SMA II
has_exact_synonym: SMA2
has_exact_synonym: spinal muscular atrophy 2
has_exact_synonym: spinal muscular atrophy type II
has_obo_namespace: disease_ontology
id: DOID:0050530
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

childhood spinal muscular atrophy
type: Class
subclass of: spinal muscular atrophy
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011463
definition: 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.
creation_date: 2011-08-29T01:15:14Z
database_cross_reference: MESH:D014897
database_cross_reference: GARD:7674
database_cross_reference: NCI:C85076
database_cross_reference: ORDO:70
database_cross_reference: UMLS_CUI:C0700595
has_exact_synonym: spinal muscular atrophies of childhood
has_exact_synonym: survival motor neuron spinal muscular atrophy
has_obo_namespace: disease_ontology
id: DOID:0060160
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2
annotated property: definition
annotated source: intermediate spinal muscular atrophy
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: intermediate spinal muscular atrophy
annotated target: SMA II

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: intermediate spinal muscular atrophy
annotated target: SMA2

obsolete lentiginosis profusa
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: LENTIGINOSIS, DIFFUSE
has_exact_synonym: LENTIGINOSIS, GENERALIZED
has_exact_synonym: LENTIGINOSIS, INHERITED PATTERNED
has_obo_namespace: disease_ontology
id: DOID:0050531
owl:deprecated: true

obsolete epidermal nevus
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
has_exact_synonym: PIGMENTED MOLES
has_obo_namespace: disease_ontology
id: DOID:0050532
owl:deprecated: true

obsolete soldiers heart
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
id: DOID:0050533
owl:deprecated: true

congenital stationary night blindness
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
subclass of: hereditary night blindness
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
database_cross_reference: MESH:C537743
database_cross_reference: MIM:PS310500
database_cross_reference: ORDO:215
database_cross_reference: SNOMEDCT_US_2025_09_01:193687000
database_cross_reference: UMLS_CUI:C1306122
has_exact_synonym: congenital essential nyctalopia
has_obo_namespace: disease_ontology
id: DOID:0050534
in_subset: DO_rare_slim

hereditary night blindness
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: DOID 8499
database_cross_reference: MESH:C537743
database_cross_reference: SNOMEDCT_US_2025_09_01:193687000
database_cross_reference: UMLS_CUI:C1306122
has_exact_synonym: Congenital night blindness
has_obo_namespace: disease_ontology
id: DOID:8498

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1245/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/
database_cross_reference: url:http://www.omim.org/entry/610444
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215
annotated property: definition
annotated source: congenital stationary night blindness
annotated target: 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.

exudative vitreoretinopathy
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: retinal vascular disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000041
definition: 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.
database_cross_reference: GARD:1613
database_cross_reference: ICD10CM:H35.00
database_cross_reference: ICD9CM:362.10
database_cross_reference: MIM:PS133780
database_cross_reference: ORDO:891
database_cross_reference: SNOMEDCT_US_2025_09_01:193355009
database_cross_reference: UMLS_CUI:C0004608
has_exact_synonym: FEVR
has_exact_synonym: familial exudative vitreoretinopathy
has_obo_namespace: disease_ontology
id: DOID:0050535
in_subset: DO_rare_slim

retinal vascular disease
type: Class
subclass of: retinal disease
subclass of: vascular disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000966
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0004535
database_cross_reference: NCI:C35170
database_cross_reference: SNOMEDCT_US_2025_09_01:57534004
database_cross_reference: UMLS_CUI:C0154833
has_exact_synonym: retina circulation disorder
has_obo_namespace: disease_ontology
id: DOID:2462
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: vascular disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000966

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy
annotated property: definition
annotated source: exudative vitreoretinopathy
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: exudative vitreoretinopathy
annotated target: FEVR

obsolete SC phocomelia syndrome
type: Class
comment: GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS]
definition: 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.
has_exact_synonym: Hypomelia Hypotrichosis Facial hemangioma syndrome
has_exact_synonym: SC PSEUDOTHALIDOMIDE SYNDROME
has_obo_namespace: disease_ontology
id: DOID:0050536
owl:deprecated: true

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/269000
annotated property: definition
annotated source: obsolete SC phocomelia syndrome
annotated target: 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.

posterior polar cataract
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: cataract
definition: A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.
has_exact_synonym: CATARACT, POSTERIOR POLAR
has_obo_namespace: disease_ontology
id: DOID:0050537

cataract
type: Class
comment: Xref MGI.
subclass of: monogenic disease
subclass of: DOID 110
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
database_cross_reference: ICD10CM:H26
database_cross_reference: ICD9CM:366.8
database_cross_reference: MIM:601371
database_cross_reference: MIM:PS116200
database_cross_reference: SNOMEDCT_US_2025_09_01:193620000
database_cross_reference: UMLS_CUI:C0029531
has_obo_namespace: disease_ontology
id: DOID:83
in_subset: DO_RAD_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/
annotated property: definition
annotated source: posterior polar cataract
annotated target: A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.

Charcot-Marie-Tooth disease type 1
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
database_cross_reference: GARD:12433
has_exact_synonym: hereditary motor and sensory neuropathy type 1
has_obo_namespace: disease_ontology
id: DOID:0050538
in_subset: DO_rare_slim

Charcot-Marie-Tooth disease
type: Class
subclass of: DOID 440
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000978
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001383
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002387
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002398
definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
database_cross_reference: SNOMEDCT_US_2025_09_01:193158000
database_cross_reference: ICD10CM:G60.0
database_cross_reference: GARD:6034
database_cross_reference: ICD9CM:356.1
database_cross_reference: MESH:D002607
database_cross_reference: MIM:PS118220
database_cross_reference: NCI:C75467
database_cross_reference: UMLS_CUI:C0007959
has_exact_synonym: CMT - Charcot-Marie-Tooth disease
has_obo_namespace: disease_ontology
id: DOID:10595
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
annotated property: definition
annotated source: Charcot-Marie-Tooth disease type 1
annotated target: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.

Charcot-Marie-Tooth disease type 2
type: Class
comment: See MIM:604484 Okinawa type is CMT type 2.
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
database_cross_reference: GARD:12431
database_cross_reference: ICD9CM:356.0
database_cross_reference: MIM:118230
database_cross_reference: MIM:604484
database_cross_reference: ORDO:64746
database_cross_reference: SNOMEDCT_US_2025_09_01:193158000
database_cross_reference: UMLS_CUI:C0392553
has_exact_synonym: hereditary motor and sensory neuropathy Guadalajara neuronal type
has_exact_synonym: hereditary motor and sensory neuropathy Okinawa type
has_exact_synonym: hereditary motor and sensory neuropathy type 2
has_obo_namespace: disease_ontology
id: DOID:0050539
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25098539
annotated property: definition
annotated source: Charcot-Marie-Tooth disease type 2
annotated target: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

Charcot-Marie-Tooth disease type 3
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: Charcot-Marie-Tooth disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
database_cross_reference: MIM:145900
has_exact_synonym: DEJERINE-SOTTAS NEUROPATHY
has_exact_synonym: DEJERINE-SOTTAS SYNDROME
has_obo_namespace: disease_ontology
id: DOID:0050540

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease
annotated property: definition
annotated source: Charcot-Marie-Tooth disease type 3
annotated target: A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.

Charcot-Marie-Tooth disease type 4
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
has_alternative_id: DOID:0050582
database_cross_reference: GARD:12440
database_cross_reference: ORDO:64749
has_exact_synonym: hereditary motor and sensory neuropathy
has_obo_namespace: disease_ontology
id: DOID:0050541
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
annotated property: definition
annotated source: Charcot-Marie-Tooth disease type 4
annotated target: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.

Charcot-Marie-Tooth disease type X
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
database_cross_reference: ORDO:64747
has_obo_namespace: disease_ontology
id: DOID:0050542
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
annotated property: definition
annotated source: Charcot-Marie-Tooth disease type X
annotated target: 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
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
has_exact_synonym: Charcot-Marie-Tooth disease dominant intermediate
has_exact_synonym: Charcot-Marie-Tooth disease recessive intermediate
has_obo_namespace: disease_ontology
id: DOID:0050543

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16775371
annotated property: definition
annotated source: Charcot-Marie-Tooth disease intermediate type
annotated target: A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.

hypermethioninemia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: amino acid metabolic disorder
definition: 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.
database_cross_reference: MESH:C564683
has_obo_namespace: disease_ontology
id: DOID:0050544
in_subset: DO_rare_slim

amino acid metabolic disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
database_cross_reference: GARD:5793
database_cross_reference: MESH:D000592
database_cross_reference: NCI:C97090
database_cross_reference: SNOMEDCT_US_2025_09_01:42930003
database_cross_reference: UMLS_CUI:C0002514
has_exact_synonym: inborn errors of amino acid metabolism
has_obo_namespace: disease_ontology
id: DOID:9252
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypermethioninemia
annotated property: definition
annotated source: hypermethioninemia
annotated target: 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.

visceral heterotaxy
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
definition: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
database_cross_reference: GARD:10875
database_cross_reference: MIM:PS306955
database_cross_reference: ORDO:450
has_exact_synonym: heterotaxia
has_exact_synonym: situs ambiguus
has_obo_namespace: disease_ontology
id: DOID:0050545
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Situs_ambiguus
annotated property: definition
annotated source: visceral heterotaxy
annotated target: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.

congenital adrenal insufficiency
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: physical disorder
subclass of: autosomal recessive disease
subclass of: adrenal gland disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
database_cross_reference: MIM:613743
has_exact_synonym: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
has_exact_synonym: Adrenal insufficiency, congenital, with 46,XY sex reversal
has_exact_synonym: P450scc DEFICIENCY
has_obo_namespace: disease_ontology
id: DOID:0050546

adrenal gland disease
type: Class
subclass of: endocrine system disease
definition: An endocrine system disease that is located_in the adrenal gland.
database_cross_reference: ICD10CM:E27.9
database_cross_reference: ICD9CM:255.9
database_cross_reference: MESH:D000307
database_cross_reference: NCI:C26690
database_cross_reference: SNOMEDCT_US_2025_09_01:30171000
database_cross_reference: UMLS_CUI:C0001621
has_obo_namespace: disease_ontology
id: DOID:9553
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002369

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Adrenal_insufficiency
annotated property: definition
annotated source: congenital adrenal insufficiency
annotated target: 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.

familial medullary thyroid carcinoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: medullary thyroid carcinoma
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MESH:C536911
database_cross_reference: MIM:155240
has_exact_synonym: THYROID CARCINOMA, FAMILIAL MEDULLARY
has_obo_namespace: disease_ontology
id: DOID:0050547
in_subset: DO_FlyBase_slim

medullary thyroid carcinoma
type: Class
subclass of: thyroid gland carcinoma
definition: A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
database_cross_reference: ICDO:8345/3
database_cross_reference: MESH:C536914
database_cross_reference: NCI:C3879
database_cross_reference: SNOMEDCT_US_2025_09_01:255032005
database_cross_reference: UMLS_CUI:C0238462
has_exact_synonym: Medullary carcinoma of the Thyroid gland
has_exact_synonym: Parafollicular cell carcinoma
has_exact_synonym: Ultimobranchial thyroid tumor
has_exact_synonym: Ultimobranchial thyroid tumour
has_exact_synonym: thyroid gland medullary carcinoma
has_obo_namespace: disease_ontology
id: DOID:3973
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000570

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
database_cross_reference: url:https://www.omim.org/entry/155240
annotated property: definition
annotated source: familial medullary thyroid carcinoma
annotated target: 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.

hereditary sensory and autonomic neuropathy
type: Class
subclass of: neuropathy
definition: 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.
database_cross_reference: GARD:12688
database_cross_reference: ICD10CM:G60.8
database_cross_reference: MESH:D009477
database_cross_reference: MIM:PS162400
database_cross_reference: ORDO:140471
database_cross_reference: SNOMEDCT_US_2025_09_01:128205005
database_cross_reference: UMLS_CUI:C0027889
has_exact_synonym: HSAN
has_exact_synonym: HSN
has_exact_synonym: hereditary sensory neuropathy
has_obo_namespace: disease_ontology
id: DOID:0050548
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
has broader match: ICD10CM:G60.8

neuropathy
type: Class
subclass of: peripheral nervous system disease
definition: A nervous system disease that is located_in nerves or nerve cells.
database_cross_reference: ICD10CM:G62.9
database_cross_reference: NCI:C4731
database_cross_reference: SNOMEDCT_US_2025_09_01:42658009
database_cross_reference: UMLS_CUI:C0442874
has_exact_synonym: peripheral neuropathy
has_obo_namespace: disease_ontology
id: DOID:870
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/23931820/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/31222456/
annotated property: definition
annotated source: hereditary sensory and autonomic neuropathy
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: hereditary sensory and autonomic neuropathy
annotated target: HSAN

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: hereditary sensory and autonomic neuropathy
annotated target: HSN

obsolete Saldino-Noonan syndrome
type: Class
definition: 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.
term replaced by: asphyxiating thoracic dystrophy 3
has_obo_namespace: disease_ontology
id: DOID:0050549
owl:deprecated: true

asphyxiating thoracic dystrophy 3
type: Class
subclass of: autosomal recessive disease
subclass of: asphyxiating thoracic dystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
has_alternative_id: DOID:0050549
database_cross_reference: ICD10CM:Q77.2
database_cross_reference: MIM:613091
has_exact_synonym: ATD3
has_exact_synonym: SRPS1
has_exact_synonym: SRPS2B
has_exact_synonym: SRPS3
has_exact_synonym: SRTD3
has_exact_synonym: Saldino-Noonan syndrome
has_exact_synonym: Verma-Naumoff syndrome
has_exact_synonym: polydactyly with neonatal chondrodystrophy, type I
has_exact_synonym: polydactyly with neonatal chondrodystrophy, type III
has_exact_synonym: short rib-polydactyly syndrome, type I
has_exact_synonym: short rib-polydactyly syndrome, type IIB
has_exact_synonym: short-rib thoracic dysplasia 3 with or without polydactyly
has_obo_namespace: disease_ontology
id: DOID:0110087

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Noonan_syndrome
annotated property: definition
annotated source: obsolete Saldino-Noonan syndrome
annotated target: 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.

obsolete Majewski syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: type II short rib-polydactyly syndrome
has_obo_namespace: disease_ontology
id: DOID:0050550
owl:deprecated: true

obsolete Verma-Naumoff syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: type III short rib-polydactyly syndrome
has_obo_namespace: disease_ontology
id: DOID:0050551
owl:deprecated: true

proteasome-associated autoinflammatory syndrome 1
type: Class
subclass of: autosomal recessive disease
subclass of: proteosome-associated autoinflammatory syndrome
subclass of: digenic disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000930
definition: 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.
database_cross_reference: GARD:10988
database_cross_reference: GARD:3916
database_cross_reference: GARD:3917
database_cross_reference: MIM:256040
database_cross_reference: ORDO:324999
has_exact_synonym: CANDLE
has_exact_synonym: JMP syndrome
has_exact_synonym: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
has_exact_synonym: NKJO
has_exact_synonym: Nakajo-Nishimura syndrome
has_exact_synonym: PRAAS1
has_exact_synonym: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
has_obo_namespace: disease_ontology
id: DOID:0050553
in_subset: DO_rare_slim

proteosome-associated autoinflammatory syndrome
type: Class
subclass of: autoinflammatory disease
definition: 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.
database_cross_reference: MIM:PS256040
database_cross_reference: ORDO:324977
has_obo_namespace: disease_ontology
id: DOID:0060913
in_subset: DO_rare_slim

digenic disease
type: Class
subclass of: DOID_0080577
definition: A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.
has_obo_namespace: disease_ontology
id: DOID:0080578
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000930

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/21129723/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/21852578/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/21881205/
database_cross_reference: url:https://www.nomidalliance.org/candle.php
annotated property: definition
annotated source: proteasome-associated autoinflammatory syndrome 1
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: proteasome-associated autoinflammatory syndrome 1
annotated target: CANDLE

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: proteasome-associated autoinflammatory syndrome 1
annotated target: NKJO

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: proteasome-associated autoinflammatory syndrome 1
annotated target: PRAAS1

X-linked sideroblastic anemia with ataxia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: X-linked recessive disease
subclass of: sideroblastic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
has_alternative_id: DOID:0060064
database_cross_reference: MIM:301310
has_exact_synonym: Anemia sideroblastic and spinocerebellar ataxia
has_exact_synonym: Anemia, sideroblastic, spinocerebellar ataxia
has_exact_synonym: X-linked sideroblastic anaemia and ataxia
has_exact_synonym: X-linked sideroblastic anaemia with ataxia
has_exact_synonym: X-linked sideroblastic anemia and ataxia
has_obo_namespace: disease_ontology
id: DOID:0050554

sideroblastic anemia
type: Class
subclass of: microcytic anemia
definition: A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
database_cross_reference: GARD:667
database_cross_reference: ICD10CM:D64.3
database_cross_reference: ICD9CM:285.0
database_cross_reference: MESH:D000756
database_cross_reference: MIM:PS300751
database_cross_reference: NCI:C36078
database_cross_reference: SNOMEDCT_US_2025_09_01:154810008
database_cross_reference: UMLS_CUI:C0002896
has_exact_synonym: ANEMIA SIDEROBLASTIC
has_exact_synonym: Anemia, hypochromic with iron loading
has_obo_namespace: disease_ontology
id: DOID:8955
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia
annotated property: definition
annotated source: X-linked sideroblastic anemia with ataxia
annotated target: A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.

obsolete infantile onset spinocerebellar ataxia
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050556
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia
annotated property: definition
annotated source: obsolete infantile onset spinocerebellar ataxia
annotated target: 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
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
subclass of: muscular dystrophy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
database_cross_reference: GARD:9138
database_cross_reference: ICD9CM:359.0
database_cross_reference: ORDO:97242
database_cross_reference: SNOMEDCT_US_2025_09_01:193221009
database_cross_reference: UMLS_CUI:C2937300
has_obo_namespace: disease_ontology
id: DOID:0050557
in_subset: DO_rare_slim

muscular dystrophy
type: Class
subclass of: myopathy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001134
definition: A myopathy is characterized by progressive skeletal muscle weakness degeneration.
database_cross_reference: ICD10CM:G71.0
database_cross_reference: SNOMEDCT_US_2025_09_01:155095006
database_cross_reference: GARD:7922
database_cross_reference: MESH:D009136
database_cross_reference: MIM:158800
database_cross_reference: MIM:159050
database_cross_reference: MIM:309930
database_cross_reference: MIM:309950
database_cross_reference: MIM:310000
database_cross_reference: MIM:310095
database_cross_reference: MIM:600416
database_cross_reference: NCI:C84910
database_cross_reference: UMLS_CUI:C0026850
has_obo_namespace: disease_ontology
id: DOID:9884
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/
database_cross_reference: url:https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy
annotated property: definition
annotated source: congenital muscular dystrophy
annotated target: 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.

Ullrich congenital muscular dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: congenital muscular dystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
database_cross_reference: GARD:4769
database_cross_reference: ORDO:75840
has_exact_synonym: ULLRICH DISEASE
has_exact_synonym: Ullrich scleroatonic muscular dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050558
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy
annotated property: definition
annotated source: Ullrich congenital muscular dystrophy
annotated target: 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.

Fukuyama congenital muscular dystrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: congenital muscular dystrophy-dystroglycanopathy type A
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
database_cross_reference: GARD:6475
database_cross_reference: MIM:253800
database_cross_reference: ORDO:272
has_obo_namespace: disease_ontology
id: DOID:0050559
in_subset: DO_rare_slim

congenital muscular dystrophy-dystroglycanopathy type A
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112374
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
database_cross_reference: MIM:PS236670
database_cross_reference: ORDO:352687
has_exact_synonym: MDDGA
has_exact_synonym: congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
has_exact_synonym: klissencephaly type 2 with muscular and ocular involvement
has_obo_namespace: disease_ontology
id: DOID:0111229
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy
annotated property: definition
annotated source: Fukuyama congenital muscular dystrophy
annotated target: 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.

Walker-Warburg syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: congenital muscular dystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:2599
database_cross_reference: MESH:D058494
has_exact_synonym: HARD syndrome
has_exact_synonym: cerebroocular dysplasia-muscular dystrophy syndrome
has_obo_namespace: disease_ontology
id: DOID:0050560
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome
annotated property: definition
annotated source: Walker-Warburg syndrome
annotated target: 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.

Lennox-Gastaut syndrome
type: Class
subclass of: childhood electroclinical syndrome
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011463
definition: A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
database_cross_reference: GARD:9912
database_cross_reference: MESH:D065768
database_cross_reference: MIM:606369
database_cross_reference: ORDO:2382
has_exact_synonym: Lennox syndrome
has_obo_namespace: disease_ontology
id: DOID:0050561
in_subset: DO_rare_slim

childhood electroclinical syndrome
type: Class
comment: JA:Epilepsy Genetics Kiel
subclass of: absence epilepsy
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011463
definition: An electroclinical syndrome with onset in childhood between one and 12 years of age.
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050704

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome
annotated property: definition
annotated source: Lennox-Gastaut syndrome
annotated target: A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.

West syndrome
type: Class
subclass of: infancy electroclinical syndrome
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
definition: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
database_cross_reference: GARD:7887
database_cross_reference: MESH:D013036
database_cross_reference: NCI:C84788
database_cross_reference: ORDO:3451
has_obo_namespace: disease_ontology
has_related_synonym: Infantile spasms syndrome
id: DOID:0050562
in_subset: DO_rare_slim
in_subset: NCIthesaurus

infancy electroclinical syndrome
type: Class
comment: JA:Epilepsy Genetics Kiel
subclass of: electroclinical syndrome
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
definition: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050703

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://rarediseases.org/rare-diseases/west-syndrome/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24268986
annotated property: definition
annotated source: West syndrome
annotated target: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.

nonsyndromic deafness
type: Class
subclass of: auditory system disease
definition: 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.
database_cross_reference: MESH:C580334
has_exact_synonym: nonsyndromic hearing loss
has_exact_synonym: nonsyndromic hereditary hearing loss
has_obo_namespace: disease_ontology
id: DOID:0050563

auditory system disease
type: Class
subclass of: sensory system disease
definition: A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
has_alternative_id: DOID:1490
has_alternative_id: DOID:2011
database_cross_reference: ICD10CM:H93.9
database_cross_reference: ICD9CM:388.9
database_cross_reference: MESH:D004427
database_cross_reference: NCI:C26757
database_cross_reference: SNOMEDCT_US_2025_09_01:194193002
database_cross_reference: UMLS_CUI:C0013447
has_exact_synonym: ear and mastoid disease
has_obo_namespace: disease_ontology
id: DOID:2742
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0016490

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
database_cross_reference: url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742
annotated property: definition
annotated source: nonsyndromic deafness
annotated target: 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.

autosomal dominant nonsyndromic deafness
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: nonsyndromic deafness
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
database_cross_reference: ICD10CM:H90.3
database_cross_reference: MIM:PS124900
database_cross_reference: ORDO:90635
has_exact_synonym: autosomal dominant deafness
has_obo_namespace: disease_ontology
id: DOID:0050564
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
annotated property: definition
annotated source: autosomal dominant nonsyndromic deafness
annotated target: A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.

autosomal recessive nonsyndromic deafness
type: Class
comment: MIM:607197 is an older phenotype record for this disease.
subclass of: autosomal recessive disease
subclass of: nonsyndromic deafness
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
database_cross_reference: ICD10CM:H90.3
database_cross_reference: MIM:607197
database_cross_reference: MIM:PS220290
database_cross_reference: ORDO:90636
has_obo_namespace: disease_ontology
id: DOID:0050565
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
annotated property: definition
annotated source: autosomal recessive nonsyndromic deafness
annotated target: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.

X-linked nonsyndromic deafness
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: nonsyndromic deafness
subclass of: X-linked monogenic disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: A nonsyndromic deafness characterized by an X-linked inheritance mode.
database_cross_reference: ICD10CM:H90.3
database_cross_reference: MIM:PS304500
database_cross_reference: ORDO:90625
has_exact_synonym: X-linked deafness
has_obo_namespace: disease_ontology
id: DOID:0050566
in_subset: DO_rare_slim

X-linked monogenic disease
type: Class
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
creation_date: 2012-07-24T12:47:31Z
has_obo_namespace: disease_ontology
id: DOID:0050735
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000936

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness
annotated property: definition
annotated source: X-linked nonsyndromic deafness
annotated target: A nonsyndromic deafness characterized by an X-linked inheritance mode.

orofacial cleft
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
subclass of: syndrome
subclass of: Class
  intersection of: physical disorder
  intersection of: Restriction
    on property: RO_0004019
    some values from: SYMP_0000462
subclass of: Class
  union of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001733
  union of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001833
  union of: Restriction
    on property: RO_0004026
    some values from: UBERON_0003216
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_608864
definition: 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.
database_cross_reference: MIM:PS119530
has_obo_namespace: disease_ontology
id: DOID:0050567

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate
database_cross_reference: url:https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html
annotated property: definition
annotated source: orofacial cleft
annotated target: 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
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: spinal disease
subclass of: dysostosis
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002228
definition: 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.
database_cross_reference: GARD:12174
database_cross_reference: MIM:PS277300
database_cross_reference: ORDO:1797
database_cross_reference: ORDO:2311
has_exact_synonym: Jarcho-Levin syndrome
has_exact_synonym: costovertebral dysplasia
has_exact_synonym: spondylothoracic dysostosis
has_exact_synonym: spondylothoracic dysplasia
has_obo_namespace: disease_ontology
id: DOID:0050568
in_subset: DO_rare_slim

spinal disease
type: Class
subclass of: bone disease
definition: A bone disease that is located_in the spine.
has_obo_namespace: disease_ontology
id: DOID:0060564
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001130

dysostosis
type: Class
subclass of: bone development disease
definition: A bone development disease that results in defective ossification of bone.
database_cross_reference: MESH:D004413
database_cross_reference: NCI:C34560
database_cross_reference: SNOMEDCT_US_2025_09_01:109420003
database_cross_reference: UMLS_CUI:C0013393
has_obo_namespace: disease_ontology
id: DOID:1934
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Spondylocostal_dysostosis
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis
annotated property: definition
annotated source: spondylocostal dysostosis
annotated target: 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.

Seckel syndrome
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
database_cross_reference: GARD:8562
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MIM:PS210600
database_cross_reference: ORDO:808
has_exact_synonym: Harper's syndrome
has_exact_synonym: Virchow-Seckel dwarfism
has_exact_synonym: bird-headed dwarfism
has_exact_synonym: microcephalic primordial dwarfism
has_obo_namespace: disease_ontology
id: DOID:0050569
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Seckel_syndrome
annotated property: definition
annotated source: Seckel syndrome
annotated target: A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.

congenital disorder of glycosylation type I
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: congenital disorder of glycosylation
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
database_cross_reference: MIM:PS212065
has_obo_namespace: disease_ontology
id: DOID:0050570

congenital disorder of glycosylation
type: Class
comment: Xref MGI.
subclass of: physical disorder
subclass of: carbohydrate metabolic disorder
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
database_cross_reference: GARD:10307
database_cross_reference: MESH:D018981
database_cross_reference: NCI:C84615
database_cross_reference: ORDO:137
database_cross_reference: SNOMEDCT_US_2025_09_01:238049009
database_cross_reference: UMLS_CUI:C0282577
has_exact_synonym: carbohydrate-deficient glycoprotein syndrome
has_obo_namespace: disease_ontology
id: DOID:5212
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation
annotated property: definition
annotated source: congenital disorder of glycosylation type I
annotated target: A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.

congenital disorder of glycosylation type II
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: congenital disorder of glycosylation
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
database_cross_reference: MESH:C535747
database_cross_reference: MIM:PS212066
has_obo_namespace: disease_ontology
id: DOID:0050571
in_subset: DO_FlyBase_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification
annotated property: definition
annotated source: congenital disorder of glycosylation type II
annotated target: A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.

cone-rod dystrophy
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: monogenic disease
subclass of: retinal degeneration
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
database_cross_reference: GARD:10790
database_cross_reference: ICD10CM:H35.5
database_cross_reference: ORDO:1872
has_exact_synonym: cone-rod retinal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050572
in_subset: DO_rare_slim

retinal degeneration
type: Class
subclass of: retinal disease
subclass of: DOID 9799
definition: A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
database_cross_reference: MESH:D012162
database_cross_reference: NCI:C34979
database_cross_reference: SNOMEDCT_US_2025_09_01:95695004
database_cross_reference: UMLS_CUI:C0035304
has_exact_synonym: degeneration of retina
has_obo_namespace: disease_ontology
id: DOID:8466
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: DOID 9799
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000966

Axiom
database_cross_reference: url:http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy
annotated property: definition
annotated source: cone-rod dystrophy
annotated target: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

2-hydroxyglutaric aciduria
type: Class
subclass of: amino acid metabolic disorder
definition: 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.
database_cross_reference: GARD:10761
database_cross_reference: MESH:C535306
has_obo_namespace: disease_ontology
id: DOID:0050573
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
annotated property: definition
annotated source: 2-hydroxyglutaric aciduria
annotated target: 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
type: Class
subclass of: 2-hydroxyglutaric aciduria
subclass of: cerebellar disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002037
definition: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
database_cross_reference: GARD:10472
database_cross_reference: MIM:236792
database_cross_reference: ORDO:79314
has_exact_synonym: L-2-HYDROXYGLUTARIC ACIDEMIA
has_obo_namespace: disease_ontology
id: DOID:0050574
in_subset: DO_rare_slim

cerebellar disease
type: Class
subclass of: brain disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000005
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000414
definition: 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.
database_cross_reference: MESH:D002526
database_cross_reference: SNOMEDCT_US_2025_09_01:267691001
database_cross_reference: UMLS_CUI:C0007760
has_obo_namespace: disease_ontology
id: DOID:2786
in_subset: DO_RAD_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002037

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
annotated property: definition
annotated source: L-2-hydroxyglutaric aciduria
annotated target: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

D-2-hydroxyglutaric aciduria
type: Class
subclass of: 2-hydroxyglutaric aciduria
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001893
definition: 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.
database_cross_reference: GARD:5661
database_cross_reference: MIM:PS600721
has_obo_namespace: disease_ontology
id: DOID:0050575
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria
annotated property: definition
annotated source: D-2-hydroxyglutaric aciduria
annotated target: 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
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:322
database_cross_reference: ICD10CM:Q61.5
database_cross_reference: MESH:C537580
database_cross_reference: MIM:PS266900
database_cross_reference: ORDO:3156
has_exact_synonym: Loken Senior syndrome
has_exact_synonym: renal-retinal syndrome
has_obo_namespace: disease_ontology
id: DOID:0050576
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome
annotated property: definition
annotated source: Senior-Loken syndrome
annotated target: 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.

cranioectodermal dysplasia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
database_cross_reference: MESH:C562966
database_cross_reference: MIM:PS218330
has_exact_synonym: Levin syndrome
has_exact_synonym: Sensenbrenner syndrome
has_obo_namespace: disease_ontology
id: DOID:0050577

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Sensenbrenner_syndrome
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/20817137/
annotated property: definition
annotated source: cranioectodermal dysplasia
annotated target: A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.

occult macular dystrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: macular degeneration
definition: 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.
database_cross_reference: MIM:613587
has_obo_namespace: disease_ontology
id: DOID:0050578

macular degeneration
type: Class
comment: Xref MGI.
subclass of: retinal degeneration
definition: 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.
database_cross_reference: MESH:D008268
database_cross_reference: NCI:C123330
database_cross_reference: ORDO:279
database_cross_reference: SNOMEDCT_US_2025_09_01:302891003
database_cross_reference: UMLS_CUI:C0024437
has_exact_synonym: Macular degeneration of retina
has_obo_namespace: disease_ontology
id: DOID:4448
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.iovs.org/content/41/2/513.full.pdf
annotated property: definition
annotated source: occult macular dystrophy
annotated target: 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.

glycogen storage disease XV
type: Class
subclass of: autosomal recessive disease
subclass of: glycogen storage disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: 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.
database_cross_reference: MIM:613507
database_cross_reference: ORDO:263297
has_exact_synonym: Glycogen storage disease 15
has_exact_synonym: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
has_exact_synonym: glycogen storage disease type XV
has_obo_namespace: disease_ontology
id: DOID:0050579
in_subset: DO_rare_slim

glycogen storage disease
type: Class
subclass of: glycogen metabolism disorder
definition: 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.
database_cross_reference: ICD10CM:E74.0
database_cross_reference: ICD9CM:271.0
database_cross_reference: MESH:D006008
database_cross_reference: NCI:C61272
database_cross_reference: SNOMEDCT_US_2025_09_01:267498002
database_cross_reference: UMLS_CUI:C0017919
has_exact_synonym: glycogenosis
has_narrow_synonym: glycogenoses
has_obo_namespace: disease_ontology
id: DOID:2747
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613507
annotated property: definition
annotated source: glycogen storage disease XV
annotated target: 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.

hereditary lymphedema
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: lymphedema
definition: A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
database_cross_reference: GARD:7220
database_cross_reference: ICD9CM:757.0
database_cross_reference: MIM:PS153100
database_cross_reference: ORDO:79452
database_cross_reference: SNOMEDCT_US_2025_09_01:205542007
database_cross_reference: UMLS_CUI:C1313885
has_obo_namespace: disease_ontology
id: DOID:0050580
in_subset: DO_rare_slim

lymphedema
type: Class
subclass of: lymphatic system disease
definition: A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.
database_cross_reference: MESH:D008209
database_cross_reference: NCI:C3207
database_cross_reference: SNOMEDCT_US_2025_09_01:266334008
database_cross_reference: UMLS_CUI:C0024236
has_exact_synonym: Lymphatic edema
has_exact_synonym: Lymphoedema
has_obo_namespace: disease_ontology
id: DOID:4977
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Milroy%27s_disease
annotated property: definition
annotated source: hereditary lymphedema
annotated target: A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.

brachydactyly
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: dysostosis
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0011297
subclass of: Restriction
  on property: RO_0004026
  some values from: Class
    intersection of: UBERON_0002387
    intersection of: UBERON_0002389
definition: A dysostosis characterized by short fingers and toes.
database_cross_reference: GARD:11913
database_cross_reference: MESH:D059327
database_cross_reference: ORDO:294937
has_obo_namespace: disease_ontology
id: DOID:0050581
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Brachydactyly
annotated property: definition
annotated source: brachydactyly
annotated target: A dysostosis characterized by short fingers and toes.

obsolete Chlamydophila pneumoniae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050583
owl:deprecated: true

gummatous syphilis
type: Class
subclass of: tertiary syphilis
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050584
in_subset: DO_infectious_disease_slim

tertiary syphilis
type: Class
subclass of: DOID 4166
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000007
definition: 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.
database_cross_reference: ICD10CM:A52
database_cross_reference: ICD9CM:097.0
database_cross_reference: MESH:C536774
database_cross_reference: NCI:C128414
database_cross_reference: SNOMEDCT_US_2025_09_01:72083004
database_cross_reference: UMLS_CUI:C0153188
has_exact_synonym: late syphilis
has_obo_namespace: disease_ontology
id: DOID:8200
in_subset: DO_infectious_disease_slim
in_subset: NCIthesaurus
in_subset: gram-negative_bacterial_infectious_disease
in_subset: sexually_transmitted_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/31437386
annotated property: definition
annotated source: gummatous syphilis
annotated target: 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.

congenital generalized lipodystrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
subclass of: autosomal recessive disease
subclass of: complete generalized lipodystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
database_cross_reference: GARD:13388
database_cross_reference: MIM:PS608594
has_obo_namespace: disease_ontology
id: DOID:0050585
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

complete generalized lipodystrophy
type: Class
subclass of: DOID 811
definition: A lipodystrophy that is characterized by complete loss of adipose tissue.
has_obo_namespace: disease_ontology
id: DOID:0080298

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy
annotated property: definition
annotated source: congenital generalized lipodystrophy
annotated target: A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.

trichotillomania
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: impulse control disorder
definition: An impulse control disorder that involves the uncontrollable plucking of ones hair.
database_cross_reference: GARD:7803
database_cross_reference: MESH:D014256
database_cross_reference: MIM:613229
has_obo_namespace: disease_ontology
id: DOID:0050587
in_subset: DO_rare_slim

impulse control disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
database_cross_reference: ICD10CM:F63.9
database_cross_reference: ICD9CM:312.30
database_cross_reference: MESH:D007174
database_cross_reference: NCI:C34723
database_cross_reference: SNOMEDCT_US_2025_09_01:192098008
database_cross_reference: UMLS_CUI:C0021122
has_obo_namespace: disease_ontology
id: DOID:10937
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Trichotillomania
annotated property: definition
annotated source: trichotillomania
annotated target: An impulse control disorder that involves the uncontrollable plucking of ones hair.

muscular dystrophy-dystroglycanopathy type B1
type: Class
comment: Xref MGI.
subclass of: autosomal recessive disease
subclass of: muscular dystrophy-dystroglycanopathy type B
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: 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.
database_cross_reference: MIM:613155
has_exact_synonym: CMD due to dystroglycanopathy
has_exact_synonym: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
has_obo_namespace: disease_ontology
id: DOID:0050588
in_subset: DO_rare_slim

muscular dystrophy-dystroglycanopathy type B
type: Class
subclass of: DOID_0112374
definition: A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.
database_cross_reference: MIM:PS613155
has_exact_synonym: MDDGB
has_obo_namespace: disease_ontology
id: DOID:0112375

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613155
annotated property: definition
annotated source: muscular dystrophy-dystroglycanopathy type B1
annotated target: 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.

inflammatory bowel disease
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: intestinal disease
definition: An intestinal disease characterized by inflammation located in all parts of digestive tract.
database_cross_reference: EFO:0003767
database_cross_reference: KEGG:05321
database_cross_reference: MESH:D015212
database_cross_reference: MIM:PS266600
database_cross_reference: NCI:C3138
database_cross_reference: SNOMEDCT_US_2025_09_01:155759008
database_cross_reference: UMLS_CUI:C0021390
has_obo_namespace: disease_ontology
id: DOID:0050589
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908
annotated property: definition
annotated source: inflammatory bowel disease
annotated target: An intestinal disease characterized by inflammation located in all parts of digestive tract.

severe congenital neutropenia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
subclass of: neutropenia
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
database_cross_reference: GARD:13592
database_cross_reference: ICD10CM:D70
database_cross_reference: MIM:PS202700
database_cross_reference: ORDO:42738
has_obo_namespace: disease_ontology
id: DOID:0050590
in_subset: DO_rare_slim

neutropenia
type: Class
subclass of: DOID_12987
database_cross_reference: ICD10CM:D70
database_cross_reference: ICD9CM:288.0
database_cross_reference: MESH:D009503
database_cross_reference: SNOMEDCT_US_2025_09_01:191336001
database_cross_reference: UMLS_CUI:C0027947
has_obo_namespace: disease_ontology
id: DOID:1227

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17133096
annotated property: definition
annotated source: severe congenital neutropenia
annotated target: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.

tooth agenesis
type: Class
comment: Xref MGI.
subclass of: tooth disease
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0009804
definition: A tooth disease characterized by failure to develop one or more missing teeth.
database_cross_reference: ICD10CM:K00.0
database_cross_reference: ICD9CM:520.0
database_cross_reference: MESH:D000848
database_cross_reference: MIM:106600
database_cross_reference: MIM:150400
database_cross_reference: MIM:313500
database_cross_reference: MIM:602639
database_cross_reference: MIM:604625
database_cross_reference: MIM:610926
database_cross_reference: MIM:PS106600
database_cross_reference: ORDO:2227
database_cross_reference: ORDO:99798
database_cross_reference: SNOMEDCT_US_2025_09_01:234951001
database_cross_reference: UMLS_CUI:C0399352
has_exact_synonym: familial tooth agenesis
has_exact_synonym: hypodontia
has_exact_synonym: oligodontia
has_exact_synonym: selective tooth agenesis
has_obo_namespace: disease_ontology
id: DOID:0050591
in_subset: DO_rare_slim
in_subset: NCIthesaurus

tooth disease
type: Class
subclass of: mouth disease
definition: A mouth disease located_in the teeth.
database_cross_reference: MESH:D014076
database_cross_reference: SNOMEDCT_US_2025_09_01:367503003
database_cross_reference: UMLS_CUI:C0040435
has_exact_synonym: teeth disease
has_obo_namespace: disease_ontology
id: DOID:1091
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001091

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypodontia
annotated property: definition
annotated source: tooth agenesis
annotated target: A tooth disease characterized by failure to develop one or more missing teeth.

asphyxiating thoracic dystrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: bone development disease
subclass of: Restriction
  on property: RO_0002200
  some values from: Class
    intersection of: HP_0000773
    intersection of: HP_0005257
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002228
definition: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
database_cross_reference: ICD10CM:Q77.2
database_cross_reference: MIM:PS208500
database_cross_reference: ORDO:474
has_exact_synonym: Jeune syndrome
has_exact_synonym: short-rib thoracic dysplasia with or without polydactyly
has_exact_synonym: thoracic pelvic phalangeal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050592
in_subset: DO_rare_slim

bone development disease
type: Class
subclass of: bone disease
definition: A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
has_obo_namespace: disease_ontology
id: DOID:0080006

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy
annotated property: definition
annotated source: asphyxiating thoracic dystrophy
annotated target: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

primary congenital glaucoma
type: Class
comment: Xref MGI.
subclass of: monogenic disease
subclass of: physical disorder
subclass of: glaucoma
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: 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.
database_cross_reference: MIM:613085
database_cross_reference: MIM:613086
has_obo_namespace: disease_ontology
id: DOID:0050593

glaucoma
type: Class
subclass of: eye disease
definition: 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.
database_cross_reference: ICD10CM:H40
database_cross_reference: ICD9CM:365
database_cross_reference: MESH:D005901
database_cross_reference: NCI:C26782
database_cross_reference: SNOMEDCT_US_2025_09_01:155120009
database_cross_reference: UMLS_CUI:C0017601
has_obo_namespace: disease_ontology
id: DOID:1686
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/early-onset-glaucoma
annotated property: definition
annotated source: primary congenital glaucoma
annotated target: 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.

glycogen storage disease IX
type: Class
subclass of: glycogen storage disease
definition: A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.
has_exact_synonym: Glycogen storage disease 9
has_obo_namespace: disease_ontology
id: DOID:0050594

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/25266922/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17689125
annotated property: definition
annotated source: glycogen storage disease IX
annotated target: A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.

taeniasis
type: Class
subclass of: parasitic helminthiasis infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 6204
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 6206
definition: 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.
has_alternative_id: DOID:10076
database_cross_reference: ICD10CM:B68.1
database_cross_reference: ICD9CM:123.2
database_cross_reference: SNOMEDCT_US_2025_09_01:69163003
database_cross_reference: UMLS_CUI:C0152073
has_obo_namespace: disease_ontology
has_related_synonym: Beef tapeworm infection
has_related_synonym: Infection by Taeniarhynchus saginatus
has_related_synonym: Taenia saginata infectious disease
id: DOID:0050596
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Taeniasis
annotated property: definition
annotated source: taeniasis
annotated target: 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.

intestinal schistosomiasis
type: Class
comment: Xref MGI.
subclass of: intestinal disease
subclass of: schistosomiasis
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0001880
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000047
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000421
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000457
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000639
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000160
definition: 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.
has_alternative_id: DOID:13692
has_alternative_id: DOID:13721
has_alternative_id: DOID:3468
database_cross_reference: ICD10CM:B65.1
database_cross_reference: ICD10CM:B65.2
database_cross_reference: ICD9CM:120.1
database_cross_reference: ICD9CM:120.2
database_cross_reference: MESH:D012554
database_cross_reference: MESH:D012555
database_cross_reference: MIM:181460
database_cross_reference: NCI:C35001
database_cross_reference: NCI:C35002
database_cross_reference: NCI:C35364
database_cross_reference: ORDO:1247
database_cross_reference: SNOMEDCT_US_2025_09_01:187114003
database_cross_reference: SNOMEDCT_US_2025_09_01:52179003
database_cross_reference: SNOMEDCT_US_2025_09_01:750009
database_cross_reference: UMLS_CUI:C0036329
database_cross_reference: UMLS_CUI:C0036330
database_cross_reference: UMLS_CUI:C0276932
has_exact_synonym: Katayama fever
has_exact_synonym: Schistosoma japonicum infection
has_exact_synonym: Schistosoma mansoni infectious disease
has_exact_synonym: schistosomiasis japonica
has_obo_namespace: disease_ontology
id: DOID:0050597
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

schistosomiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 6181
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000040
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000457
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000460
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000487
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000531
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019174
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019176
definition: 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.
database_cross_reference: GARD:9687
database_cross_reference: ICD9CM:120.8
database_cross_reference: SNOMEDCT_US_2025_09_01:187116001
database_cross_reference: UMLS_CUI:C0029827
has_obo_namespace: disease_ontology
id: DOID:1395
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Schistosomiasis
annotated property: definition
annotated source: intestinal schistosomiasis
annotated target: 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.

extrapulmonary tuberculosis
type: Class
subclass of: tuberculosis
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0004122
definition: A tuberculosis that occurs at body sites other than the lung.
has_obo_namespace: disease_ontology
id: DOID:0050598
in_subset: DO_infectious_disease_slim

tuberculosis
type: Class
subclass of: primary bacterial infectious disease
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 1773
subclass of: Restriction
  on property: RO_0002451
  some values from: TRANS_0000008
definition: 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.
has_alternative_id: DOID:10096
has_alternative_id: DOID:12688
has_alternative_id: DOID:12691
has_alternative_id: DOID:415
has_alternative_id: DOID:9901
has_alternative_id: DOID:9902
database_cross_reference: GARD:7827
database_cross_reference: MESH:D014375
database_cross_reference: SNOMEDCT_US_2025_09_01:15202009
database_cross_reference: UMLS_CUI:C0041295
has_obo_namespace: disease_ontology
id: DOID:399
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim
in_subset: gram-positive_bacterial_infectious_disease

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf
annotated property: definition
annotated source: extrapulmonary tuberculosis
annotated target: A tuberculosis that occurs at body sites other than the lung.

abdominal tuberculosis
type: Class
subclass of: extrapulmonary tuberculosis
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050599
in_subset: DO_infectious_disease_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf
annotated property: definition
annotated source: abdominal tuberculosis
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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).
database_cross_reference: MESH:C535334
database_cross_reference: MIM:600501
has_exact_synonym: ABCDS
has_exact_synonym: albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
has_obo_namespace: disease_ontology
id: DOID:0050600

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/ABCD_syndrome
database_cross_reference: url:http://omim.org/entry/600501
annotated property: definition
annotated source: ABCD syndrome
annotated target: 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).

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: ABCD syndrome
annotated target: ABCDS

ADULT syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: 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.
database_cross_reference: GARD:384
database_cross_reference: MIM:103285
has_exact_synonym: acro-dermato-ungual-lacrimal-tooth syndrome
has_obo_namespace: disease_ontology
id: DOID:0050601
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/16114047/
annotated property: definition
annotated source: ADULT syndrome
annotated target: 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.

triple-A syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:457
database_cross_reference: MIM:231550
has_exact_synonym: AAAS
has_exact_synonym: Achalasia-Addisonianism-Alacrimia syndrome
has_exact_synonym: Allgrove Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050602
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/triple-a-syndrome
annotated property: definition
annotated source: triple-A syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: triple-A syndrome
annotated target: AAAS

acheiropody
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: osteochondrodysplasia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
database_cross_reference: GARD:376
database_cross_reference: MIM:200500
has_exact_synonym: Acheiropodia
has_exact_synonym: Horn-Kolb Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050603
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Acheiropodia
annotated property: definition
annotated source: acheiropody
annotated target: An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.

acrocapitofemoral dysplasia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: osteochondrodysplasia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:10605
database_cross_reference: MESH:C564334
database_cross_reference: MIM:607778
database_cross_reference: ORDO:63446
has_obo_namespace: disease_ontology
id: DOID:0050604
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/34530144/
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia
annotated property: definition
annotated source: acrocapitofemoral dysplasia
annotated target: 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
type: Class
subclass of: metal metabolism disorder
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: 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.
database_cross_reference: GARD:5723
database_cross_reference: MESH:C538178
database_cross_reference: MIM:201100
has_obo_namespace: disease_ontology
id: DOID:0050605
in_subset: DO_rare_slim

metal metabolism disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
database_cross_reference: MESH:D008664
database_cross_reference: UMLS_CUI:C0025534
has_exact_synonym: inborn metal metabolism disorder
has_obo_namespace: disease_ontology
id: DOID:896

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica
annotated property: definition
annotated source: acrodermatitis enteropathica
annotated target: 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.

acrokeratosis verruciformis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: keratosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
database_cross_reference: MIM:101900
has_exact_synonym: Acrokeratosis verruciformis of Hopf
has_exact_synonym: Hopf disease
has_obo_namespace: disease_ontology
id: DOID:0050606

keratosis
type: Class
subclass of: skin disease
definition: A skin disease characterized_by growth of keratin on the skin or mucous membranes.
database_cross_reference: MESH:D007642
database_cross_reference: NCI:C34747
database_cross_reference: SNOMEDCT_US_2025_09_01:254666005
database_cross_reference: UMLS_CUI:C0022593
has_obo_namespace: disease_ontology
id: DOID:161
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis
annotated property: definition
annotated source: acrokeratosis verruciformis
annotated target: A keratosis that has_material_basis_in mutations in the ATP2A2 gene.

Askin's tumor
type: Class
subclass of: Ewing sarcoma
definition: An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.
has_exact_synonym: Askin tumor
has_exact_synonym: Askin tumour
has_exact_synonym: Askin's tumour
has_obo_namespace: disease_ontology
id: DOID:0050608

Ewing sarcoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: connective tissue cancer
subclass of: DOID 1115
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000222
definition: A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
has_alternative_id: DOID:0050607
has_alternative_id: DOID:4158
has_alternative_id: DOID:4390
has_alternative_id: DOID:4391
has_alternative_id: DOID:4392
has_alternative_id: DOID:4980
database_cross_reference: SNOMEDCT_US_2025_09_01:73676002
database_cross_reference: GARD:6390
database_cross_reference: ICDO:9364/3
database_cross_reference: MESH:C563168
database_cross_reference: MESH:D012512
database_cross_reference: MESH:D018241
database_cross_reference: MIM:612219
database_cross_reference: NCI:C27901
database_cross_reference: NCI:C27903
database_cross_reference: NCI:C4817
database_cross_reference: NCI:C7542
database_cross_reference: NCI:C7806
database_cross_reference: NCI:C9341
database_cross_reference: SNOMEDCT_US_2025_09_01:134210007
database_cross_reference: SNOMEDCT_US_2025_09_01:76909002
database_cross_reference: UMLS_CUI:C0553580
database_cross_reference: UMLS_CUI:C0684337
database_cross_reference: UMLS_CUI:C0796547
database_cross_reference: UMLS_CUI:C0863029
database_cross_reference: UMLS_CUI:C0877849
database_cross_reference: UMLS_CUI:C1334408
has_exact_synonym: Ewing's family localized tumor
has_exact_synonym: Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has_exact_synonym: Ewing's tumor
has_exact_synonym: Ewings sarcoma
has_exact_synonym: Ewings sarcoma-primitive neuroectodermal tumor
has_exact_synonym: PNET of Thoracopulmonary Region
has_exact_synonym: localized Ewing sarcoma
has_exact_synonym: localized Ewing's sarcoma
has_exact_synonym: localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has_exact_synonym: localized Ewing's tumor
has_exact_synonym: localized peripheral primitive neuroectodermal tumor
has_exact_synonym: peripheral primitive neuroectodermal tumor
has_obo_namespace: disease_ontology
id: DOID:3369
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Askin%27s_tumor
annotated property: definition
annotated source: Askin's tumor
annotated target: An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.

oral cavity carcinoma in situ
type: Class
subclass of: mouth disease
subclass of: in situ carcinoma
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050610
equivalent class: Class
  intersection of: in situ carcinoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000167

in situ carcinoma
type: Class
subclass of: pre-malignant neoplasm
definition: A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
has_alternative_id: DOID:8793
has_alternative_id: DOID:8821
database_cross_reference: ICD10CM:D09.9
database_cross_reference: ICD9CM:230-234.99
database_cross_reference: MESH:D002278
database_cross_reference: NCI:C2917
database_cross_reference: SNOMEDCT_US_2025_09_01:189208007
database_cross_reference: UMLS_CUI:C0007099
has_obo_namespace: disease_ontology
id: DOID:8719
in_subset: DO_RAD_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/
annotated property: definition
annotated source: oral cavity carcinoma in situ
annotated target: 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.

pharynx carcinoma in situ
type: Class
subclass of: in situ carcinoma
definition: An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma.
has_obo_namespace: disease_ontology
id: DOID:0050611
equivalent class: Class
  intersection of: in situ carcinoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0006562

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer
annotated property: definition
annotated source: pharynx carcinoma in situ
annotated target: 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
type: Class
subclass of: in situ carcinoma
subclass of: gallbladder disease
definition: An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.
has_obo_namespace: disease_ontology
id: DOID:0050612
equivalent class: Class
  intersection of: in situ carcinoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002110

gallbladder disease
type: Class
comment: Xref MGI.
subclass of: gastrointestinal system disease
definition: A gastrointestinal system disease that is located_in the gallbladder.
creation_date: 2015-02-02T15:48:08Z
has_alternative_id: DOID:0000000
database_cross_reference: ICD10CM:K82.9
database_cross_reference: ICD9CM:575.9
database_cross_reference: MESH:D005705
database_cross_reference: MIM:609918
database_cross_reference: MIM:609919
database_cross_reference: MIM:611465
database_cross_reference: NCI:C34631
database_cross_reference: SNOMEDCT_US_2025_09_01:155807008
database_cross_reference: UMLS_CUI:C0016977
has_obo_namespace: disease_ontology
id: DOID:0060262
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002110

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Gallbladder_cancer
database_cross_reference: url:https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html
annotated property: definition
annotated source: gallbladder carcinoma in situ
annotated target: An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.

bile duct carcinoma in situ
type: Class
subclass of: in situ carcinoma
subclass of: bile duct disease
definition: An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.
has_obo_namespace: disease_ontology
id: DOID:0050613
equivalent class: Class
  intersection of: in situ carcinoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002394

bile duct disease
type: Class
subclass of: biliary tract disease
definition: A biliary tract disease located_in one or more bile ducts.
database_cross_reference: MESH:D001649
database_cross_reference: NCI:C96716
database_cross_reference: SNOMEDCT_US_2025_09_01:118926004
database_cross_reference: UMLS_CUI:C0005395
has_exact_synonym: bile duct disorder
has_exact_synonym: disorder of bile duct
has_obo_namespace: disease_ontology
id: DOID:4138
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002394

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cholangiocarcinoma
annotated property: definition
annotated source: bile duct carcinoma in situ
annotated target: An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.

bronchus carcinoma in situ
type: Class
subclass of: in situ carcinoma
subclass of: bronchial disease
definition: An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.
has_obo_namespace: disease_ontology
id: DOID:0050614
equivalent class: Class
  intersection of: in situ carcinoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002185
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002186

bronchial disease
type: Class
subclass of: lower respiratory tract disease
definition: 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.
has_alternative_id: DOID:1175
has_alternative_id: DOID:12322
database_cross_reference: MESH:D001982
database_cross_reference: SNOMEDCT_US_2025_09_01:41427001
database_cross_reference: UMLS_CUI:C0006261
has_obo_namespace: disease_ontology
id: DOID:1176
in_subset: DO_RAD_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002185
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002186

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10858385
annotated property: definition
annotated source: bronchus carcinoma in situ
annotated target: An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.

respiratory system cancer
type: Class
subclass of: respiratory system disease
subclass of: organ system cancer
definition: An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
has_obo_namespace: disease_ontology
id: DOID:0050615
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001004

cancer
type: Class
comment: Updating out dated UMLS CUI.
subclass of: disease of cellular proliferation
definition: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
database_cross_reference: ICD10CM:C80.1
database_cross_reference: ICD9CM:199
database_cross_reference: ICDO:8000/3
database_cross_reference: MESH:D009369
database_cross_reference: NCI:C9305
database_cross_reference: SNOMEDCT_US_2025_09_01:269513004
database_cross_reference: UMLS_CUI:C0006826
has_exact_synonym: malignant neoplasm
has_exact_synonym: malignant tumor
has_exact_synonym: primary cancer
has_obo_namespace: disease_ontology
id: DOID:162
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_FlyBase_slim
in_subset: DO_GXD_slim
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

organ system cancer
type: Class
subclass of: cancer
definition: A cancer that is classified based on the organ it starts in.
creation_date: 2011-06-13T03:28:33Z
database_cross_reference: MESH:D009371
has_obo_namespace: disease_ontology
id: DOID:0050686
in_subset: DO_MGI_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm
annotated property: definition
annotated source: respiratory system cancer
annotated target: An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.

obsolete malignant Leydig cell tumor
type: Class
has_alternative_id: DOID:4755
has_obo_namespace: disease_ontology
id: DOID:0050616
owl:deprecated: true

obsolete malignant Sertoli cell tumor
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050617
owl:deprecated: true

obsolete malignant Sertoli-Leydig cell tumor
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050618
owl:deprecated: true

paranasal sinus cancer
type: Class
subclass of: paranasal sinus disease
subclass of: respiratory system cancer
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001825
definition: A respiratory system cancer that is located_in the paranasal sinuses.
has_alternative_id: DOID:1354
has_alternative_id: DOID:2765
has_alternative_id: DOID:2767
has_alternative_id: DOID:4689
database_cross_reference: MESH:D010255
database_cross_reference: NCI:C6014
database_cross_reference: NCI:C6017
database_cross_reference: NCI:C6018
database_cross_reference: NCI:C6019
database_cross_reference: SNOMEDCT_US_2025_09_01:1255092002
database_cross_reference: UMLS_CUI:C0854995
database_cross_reference: UMLS_CUI:C1335336
database_cross_reference: UMLS_CUI:C1335337
database_cross_reference: UMLS_CUI:C1335340
has_exact_synonym: Mucoepidermoid carcinoma of Accessory sinus
has_exact_synonym: adenoid cystic carcinoma of Accessory sinus
has_exact_synonym: carcinoma of accessory sinus
has_exact_synonym: carcinoma of paranasal sinus
has_exact_synonym: paranasal sinus adenocarcinoma
has_exact_synonym: paranasal sinus adenoid cystic carcinoma
has_exact_synonym: paranasal sinus mucoepidermoid carcinoma
has_obo_namespace: disease_ontology
has_related_synonym: adenoid cystic carcinoma of paranasal sinus
id: DOID:0050619
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001825

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1
annotated property: definition
annotated source: paranasal sinus cancer
annotated target: A respiratory system cancer that is located_in the paranasal sinuses.

infiltrating renal pelvis transitional cell carcinoma
type: Class
subclass of: renal pelvis transitional cell carcinoma
definition: A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.
has_obo_namespace: disease_ontology
id: DOID:0050620

renal pelvis transitional cell carcinoma
type: Class
subclass of: DOID 2671
subclass of: DOID 4919
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000244
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001224
database_cross_reference: NCI:C7355
has_exact_synonym: Urothelial cell carcinoma of renal Pelvis
has_obo_namespace: disease_ontology
id: DOID:5974
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Transitional_cell_carcinoma
annotated property: definition
annotated source: infiltrating renal pelvis transitional cell carcinoma
annotated target: A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.

respiratory system benign neoplasm
type: Class
subclass of: respiratory system disease
subclass of: organ system benign neoplasm
definition: An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.
has_obo_namespace: disease_ontology
id: DOID:0050621
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001004

benign neoplasm
type: Class
subclass of: disease of cellular proliferation
definition: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
creation_date: 2011-05-11T12:18:41Z
has_obo_namespace: disease_ontology
id: DOID:0060072
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: DO_RAD_slim
disjoint with: cancer

organ system benign neoplasm
type: Class
subclass of: benign neoplasm
definition: A benign neoplasm that is classified by the organ system from which it is arising from.
creation_date: 2011-07-14T12:12:23Z
database_cross_reference: NCI:C3677
has_obo_namespace: disease_ontology
id: DOID:0060085
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Respiratory_system
annotated property: definition
annotated source: respiratory system benign neoplasm
annotated target: An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.

reproductive organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: reproductive system disease
definition: An organ system benign neoplasm that is located_in reproductive system organs.
has_obo_namespace: disease_ontology
id: DOID:0050622
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000990

reproductive system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in reproductive system organs.
has_alternative_id: DOID:6309
database_cross_reference: NCI:C27613
database_cross_reference: UMLS_CUI:C1335037
has_exact_synonym: genital system disease
has_obo_namespace: disease_ontology
id: DOID:15
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000990

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Reproductive_system
annotated property: definition
annotated source: reproductive organ benign neoplasm
annotated target: An organ system benign neoplasm that is located_in reproductive system organs.

bladder benign neoplasm
type: Class
subclass of: bladder disease
subclass of: urinary system benign neoplasm
definition: A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.
has_obo_namespace: disease_ontology
id: DOID:0050623
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001255

bladder disease
type: Class
subclass of: DOID 18
definition: A urinary system disease that is located_in the bladder.
database_cross_reference: ICD10CM:N32.9
database_cross_reference: ICD9CM:596.9
database_cross_reference: MESH:D001745
database_cross_reference: NCI:C2900
database_cross_reference: SNOMEDCT_US_2025_09_01:42643001
database_cross_reference: UMLS_CUI:C0005686
has_exact_synonym: Urinary Bladder Disease
has_obo_namespace: disease_ontology
id: DOID:365
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001255

urinary system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: DOID 18
definition: An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
database_cross_reference: MESH:D014571
database_cross_reference: NCI:C3431
database_cross_reference: SNOMEDCT_US_2025_09_01:126879004
database_cross_reference: UMLS_CUI:C0042076
has_exact_synonym: neoplasm of urinary system
has_exact_synonym: tumor of the urinary system
has_exact_synonym: tumor of urinary tract
has_exact_synonym: urinary tract neoplasm
has_obo_namespace: disease_ontology
id: DOID:731
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001008

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/
annotated property: definition
annotated source: bladder benign neoplasm
annotated target: A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.

gastrointestinal system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: gastrointestinal system disease
definition: An organ system benign neoplasm located_in gastrointestinal tract organs.
has_obo_namespace: disease_ontology
id: DOID:0050624
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001007

gastrointestinal system disease
type: Class
subclass of: disease of anatomical entity
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000526
definition: A disease of anatomical entity that is located_in the gastrointestinal tract.
has_alternative_id: DOID:27
has_alternative_id: DOID:944
database_cross_reference: MESH:D004066
database_cross_reference: ICD10CM:K92.9
database_cross_reference: ICD9CM:520-579.99
database_cross_reference: SNOMEDCT_US_2025_09_01:53619000
database_cross_reference: UMLS_CUI:C0012242
has_exact_synonym: GIT disease
has_exact_synonym: Gastroenteropathy
has_exact_synonym: alimentary system disease
has_exact_synonym: digestive system disorder
has_exact_synonym: gastrointestinal disease
has_exact_synonym: gastrointestinal disorder
has_obo_namespace: disease_ontology
id: DOID:77
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001007

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract
annotated property: definition
annotated source: gastrointestinal system benign neoplasm
annotated target: An organ system benign neoplasm located_in gastrointestinal tract organs.

biliary tract benign neoplasm
type: Class
subclass of: hepatobiliary benign neoplasm
subclass of: biliary tract disease
definition: A hepatobiliary benign neoplasm located_in the biliary tract.
has_alternative_id: DOID:4609
database_cross_reference: NCI:C4441
database_cross_reference: SNOMEDCT_US_2025_09_01:126855001
database_cross_reference: UMLS_CUI:C0345913
has_exact_synonym: extrahepatic bile duct neoplasm
has_exact_synonym: neoplasm of extrahepatic bile ducts
has_exact_synonym: tumor of the extrahepatic bile duct
has_obo_namespace: disease_ontology
id: DOID:0050625
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001173

hepatobiliary benign neoplasm
type: Class
subclass of: gastrointestinal system benign neoplasm
definition: A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
database_cross_reference: NCI:C8614
database_cross_reference: UMLS_CUI:C0854196
has_exact_synonym: hepatobiliary tumors
has_obo_namespace: disease_ontology
id: DOID:3117
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002423

biliary tract disease
type: Class
subclass of: DOID 3118
definition: A hepatobiliary disease that is located_in the biliary tract.
database_cross_reference: ICD10CM:K83.9
database_cross_reference: ICD9CM:576.9
database_cross_reference: MESH:D001660
database_cross_reference: SNOMEDCT_US_2025_09_01:5235004
database_cross_reference: UMLS_CUI:C0005424
has_obo_namespace: disease_ontology
id: DOID:9741
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001173

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract
annotated property: definition
annotated source: biliary tract benign neoplasm
annotated target: A hepatobiliary benign neoplasm located_in the biliary tract.

gastrointestinal neuroendocrine tumor
type: Class
subclass of: gastrointestinal system cancer
definition: A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
has_exact_synonym: gastrointestinal neuroendocrine tumour
has_exact_synonym: malignant gastrointestinal neuroendocrine tumor
has_exact_synonym: malignant gastrointestinal neuroendocrine tumour
has_obo_namespace: disease_ontology
id: DOID:0050626
in_subset: DO_cancer_slim

gastrointestinal system cancer
type: Class
subclass of: organ system cancer
subclass of: gastrointestinal system disease
definition: An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
has_alternative_id: DOID:4945
has_alternative_id: DOID:8377
database_cross_reference: ICD10CM:C26.9
database_cross_reference: ICD9CM:239.0
database_cross_reference: MESH:D004067
database_cross_reference: MESH:D005770
database_cross_reference: NCI:C3052
database_cross_reference: NCI:C4890
database_cross_reference: SNOMEDCT_US_2025_09_01:128348002
database_cross_reference: SNOMEDCT_US_2025_09_01:276806006
database_cross_reference: SNOMEDCT_US_2025_09_01:428905002
database_cross_reference: UMLS_CUI:C0012243
database_cross_reference: UMLS_CUI:C0017185
database_cross_reference: UMLS_CUI:C0685938
has_exact_synonym: GI tumor
has_exact_synonym: digestive system cancer
has_exact_synonym: gastrointestinal tract cancer
has_obo_namespace: disease_ontology
id: DOID:3119
in_subset: DO_FlyBase_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001007

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=44904
annotated property: definition
annotated source: gastrointestinal neuroendocrine tumor
annotated target: A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.

advanced sleep phase syndrome
type: Class
comment: Xref MGI.
subclass of: autosomal dominant disease
subclass of: sleep disorder
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
database_cross_reference: MIM:PS604348
database_cross_reference: ORDO:164736
has_exact_synonym: familial advanced sleep-phase syndrome
has_obo_namespace: disease_ontology
id: DOID:0050628
in_subset: DO_rare_slim

sleep disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involves disruption of sleep patterns.
has_alternative_id: DOID:9028
database_cross_reference: ICD9CM:307.4
database_cross_reference: UMLS_CUI:C0154564
has_exact_synonym: Non-organic sleep disorder
has_obo_namespace: disease_ontology
id: DOID:535
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome
annotated property: definition
annotated source: advanced sleep phase syndrome
annotated target: A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.

Aicardi-Goutieres syndrome
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: autosomal genetic disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000934
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: 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.
database_cross_reference: GARD:575
database_cross_reference: ICD10CM:G31.8
database_cross_reference: MIM:225750
database_cross_reference: MIM:610181
database_cross_reference: MIM:610329
database_cross_reference: MIM:610333
database_cross_reference: MIM:612952
database_cross_reference: MIM:615010
database_cross_reference: MIM:615846
database_cross_reference: MIM:PS225750
database_cross_reference: ORDO:51
has_exact_synonym: AGS
has_exact_synonym: Cree encephalitis
has_obo_namespace: disease_ontology
id: DOID:0050629
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007646
database_cross_reference: url:http://omim.org/entry/225750
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1475/
database_cross_reference: url:https://agsaa.org/about-ags
annotated property: definition
annotated source: Aicardi-Goutieres syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Aicardi-Goutieres syndrome
annotated target: AGS

Aland Island eye disease
type: Class
subclass of: eye disease
subclass of: X-linked recessive disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: GARD:10574
database_cross_reference: MESH:C562664
database_cross_reference: MIM:300600
has_exact_synonym: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
has_exact_synonym: Forsius-Eriksson syndrome
has_obo_namespace: disease_ontology
id: DOID:0050630
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/300600
annotated property: definition
annotated source: Aland Island eye disease
annotated target: 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.

Allan-Herndon-Dudley syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: syndrome
subclass of: X-linked recessive disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13.
database_cross_reference: GARD:5617
database_cross_reference: MESH:C537047
database_cross_reference: MIM:300523
database_cross_reference: ORDO:59
has_exact_synonym: AHDS
has_exact_synonym: ALLAN-HERNDON SYNDROME
has_obo_namespace: disease_ontology
id: DOID:0050631
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome
database_cross_reference: url:http://omim.org/entry/300523
annotated property: definition
annotated source: Allan-Herndon-Dudley syndrome
annotated target: A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Allan-Herndon-Dudley syndrome
annotated target: AHDS

oculocutaneous albinism
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
database_cross_reference: GARD:10958
database_cross_reference: ICD10CM:E70.3
database_cross_reference: MESH:D016115
database_cross_reference: MIM:PS203100
database_cross_reference: ORDO:55
has_obo_namespace: disease_ontology
id: DOID:0050632
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Oculocutaneous_albinism
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism
annotated property: definition
annotated source: oculocutaneous albinism
annotated target: A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.

ocular albinism 1
type: Class
subclass of: eye disease
definition: 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.
database_cross_reference: MESH:D016117
database_cross_reference: MIM:300500
has_exact_synonym: Albinism ocular 1
has_exact_synonym: ocular albinism
has_obo_namespace: disease_ontology
id: DOID:0050633

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/ocular-albinism
annotated property: definition
annotated source: ocular albinism 1
annotated target: 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.

alopecia universalis
type: Class
subclass of: autosomal recessive disease
subclass of: alopecia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An alopecia characterized by the complete loss of hair on the scalp and body.
database_cross_reference: GARD:614
database_cross_reference: MESH:C537055
database_cross_reference: MIM:203655
has_exact_synonym: ALOPECIA UNIVERSALIS CONGENITA
has_obo_namespace: disease_ontology
id: DOID:0050634
in_subset: DO_rare_slim

alopecia
type: Class
subclass of: DOID 4535
definition: A hypotrichosis that is characterized by a loss of hair from the head or body.
database_cross_reference: ICD10CM:L65.9
database_cross_reference: ICD9CM:704.0
database_cross_reference: MESH:D000505
database_cross_reference: MIM:PS203655
database_cross_reference: NCI:C50575
database_cross_reference: SNOMEDCT_US_2025_09_01:270504008
database_cross_reference: UMLS_CUI:C0002170
has_obo_namespace: disease_ontology
id: DOID:987
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis
annotated property: definition
annotated source: alopecia universalis
annotated target: An alopecia characterized by the complete loss of hair on the scalp and body.

alternating hemiplegia of childhood
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: hemiplegia
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011463
definition: A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
database_cross_reference: GARD:11
database_cross_reference: ICD10CM:G98
database_cross_reference: MESH:C536589
database_cross_reference: MIM:104290
database_cross_reference: MIM:614820
database_cross_reference: MIM:PS104290
database_cross_reference: ORDO:2131
has_exact_synonym: AHC
has_obo_namespace: disease_ontology
id: DOID:0050635
in_subset: DO_rare_slim

hemiplegia
type: Class
subclass of: central nervous system disease
definition: A central nervous system disease that is characterized by the complete paralysis of half of the body.
database_cross_reference: GARD:6583
database_cross_reference: ICD9CM:343.4
database_cross_reference: MESH:D006429
database_cross_reference: SNOMEDCT_US_2025_09_01:155024003
database_cross_reference: UMLS_CUI:C0392550
has_exact_synonym: Infantile hemiplegia
has_exact_synonym: Postnatal infantile hemiplegia
has_obo_namespace: disease_ontology
id: DOID:10969
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood
annotated property: definition
annotated source: alternating hemiplegia of childhood
annotated target: A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: alternating hemiplegia of childhood
annotated target: AHC

hereditary systemic amyloidosis 2
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: inherited metabolic disorder
subclass of: amyloidosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
database_cross_reference: GARD:8282
database_cross_reference: MIM:105200
database_cross_reference: ORDO:85450
has_exact_synonym: AMYLOIDOSIS, FAMILIAL RENAL
has_exact_synonym: German type amyloidosis
has_exact_synonym: OSTERTAG TYPE AMYLOIDOSIS
has_exact_synonym: familial visceral amyloidosis
has_exact_synonym: systemic nonneuropathic amyloidosis
has_obo_namespace: disease_ontology
id: DOID:0050636
in_subset: DO_rare_slim

inherited metabolic disorder
type: Class
subclass of: disease of metabolism
subclass of: genetic disease
definition: 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.
database_cross_reference: MESH:D008661
database_cross_reference: NCI:C34816
database_cross_reference: SNOMEDCT_US_2025_09_01:86095007
database_cross_reference: UMLS_CUI:C0025521
has_exact_synonym: Inborn Errors of Metabolism
has_exact_synonym: Metabolic hereditary disorder
has_exact_synonym: inborn metabolism disorder
has_obo_namespace: disease_ontology
id: DOID:655
in_subset: DO_MGI_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease of metabolism
  intersection of: Restriction
    on property: RO_0004019
    some values from: SO_0001537

amyloidosis
type: Class
comment: amyloidosis has both inherited and acquired subtypes [LS].
subclass of: disease of metabolism
definition: 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.
database_cross_reference: ICD10CM:E85
database_cross_reference: ICD9CM:277.3
database_cross_reference: MESH:D000686
database_cross_reference: NCI:C2868
database_cross_reference: SNOMEDCT_US_2025_09_01:154769007
database_cross_reference: UMLS_CUI:C0002726
has_exact_synonym: amyloid disease
has_obo_namespace: disease_ontology
id: DOID:9120
in_subset: DO_FlyBase_slim
in_subset: DO_MGI_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Familial_renal_amyloidosis
annotated property: definition
annotated source: hereditary systemic amyloidosis 2
annotated target: An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.

Finnish type amyloidosis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: eye disease
subclass of: primary cutaneous amyloidosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000283
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000014
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000970
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001021
subclass of: Restriction
  on property: RO_0004029
  some values from: cutis laxa
subclass of: Restriction
  on property: RO_0004029
  some values from: lattice corneal dystrophy
definition: 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.
database_cross_reference: GARD:2339
database_cross_reference: MIM:105120
database_cross_reference: ORDO:85448
has_exact_synonym: AGel amyloidosis
has_exact_synonym: AMYLOIDOSIS, MERETOJA TYPE
has_exact_synonym: Lattice corneal dystrophy type II
has_exact_synonym: gelsolin amyloidosis
has_obo_namespace: disease_ontology
id: DOID:0050637
in_subset: DO_rare_slim

primary cutaneous amyloidosis
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: skin disease
subclass of: inherited metabolic disorder
subclass of: amyloidosis
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
database_cross_reference: GARD:132
database_cross_reference: MIM:PS105250
database_cross_reference: ORDO:137807
database_cross_reference: ORDO:353220
has_exact_synonym: PCA
has_exact_synonym: familial primary localized cutaneous amyloidosis
has_obo_namespace: disease_ontology
id: DOID:0050639
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: amyloidosis
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014

cutis laxa
type: Class
comment: Xref MGI.
subclass of: skin disease
definition: A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: GARD:6227
database_cross_reference: MESH:D003483
database_cross_reference: MIM:PS123700
database_cross_reference: NCI:C84663
database_cross_reference: ORDO:209
database_cross_reference: SNOMEDCT_US_2025_09_01:238825007
database_cross_reference: UMLS_CUI:C0010495
has_exact_synonym: loose skin
has_obo_namespace: disease_ontology
id: DOID:3144
in_subset: DO_rare_slim
in_subset: NCIthesaurus

lattice corneal dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_0060441
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MESH:C537935
database_cross_reference: MIM:122200
has_exact_synonym: familial amyloid neuropathy, Finnish type
has_obo_namespace: disease_ontology
id: DOID:8943

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type
annotated property: definition
annotated source: Finnish type amyloidosis
annotated target: 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.

hereditary systemic amyloidosis 1
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: heart disease
subclass of: autosomal dominant disease
subclass of: inherited metabolic disorder
subclass of: amyloidosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000948
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001021
definition: 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.
has_alternative_id: DOID:0050761
database_cross_reference: GARD:656
database_cross_reference: ICD10CM:E85.82
database_cross_reference: MIM:105210
database_cross_reference: ORDO:85447
has_exact_synonym: ATTR amyloidosis
has_exact_synonym: ATTRm amyloidosis
has_exact_synonym: Amyloidosis, hereditary, transthyretin-related
has_exact_synonym: Corino de Andrade's disease
has_exact_synonym: Familial transthyretin amyloidosis
has_exact_synonym: TTR amyloidosis
has_exact_synonym: familial amyloid polyneuropathy
has_exact_synonym: paramyloidosis
has_exact_synonym: transthyretin amyloidosis
has_exact_synonym: transthyretin-related hereditary amyloidosis
has_obo_namespace: disease_ontology
id: DOID:0050638
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1194/
database_cross_reference: url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451
database_cross_reference: url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1194/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19372706
annotated property: definition
annotated source: hereditary systemic amyloidosis 1
annotated target: 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.

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19663869
annotated property: definition
annotated source: primary cutaneous amyloidosis
annotated target: An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: primary cutaneous amyloidosis
annotated target: PCA

anauxetic dysplasia 1
type: Class
subclass of: autosomal recessive disease
subclass of: anauxetic dysplasia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
database_cross_reference: MIM:607095
has_exact_synonym: spondylometaepiphyseal dysplasia, Menger type
has_obo_namespace: disease_ontology
id: DOID:0050640
in_subset: DO_rare_slim

anauxetic dysplasia
type: Class
subclass of: spondyloepimetaphyseal dysplasia
definition: 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.
database_cross_reference: GARD:9657
database_cross_reference: MESH:C538256
database_cross_reference: MIM:PS607095
database_cross_reference: ORDO:93347
has_obo_namespace: disease_ontology
id: DOID:0080942
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007646
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/16252239/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK84550/
annotated property: definition
annotated source: anauxetic dysplasia 1
annotated target: An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.

Rh deficiency syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: hemolytic anemia
definition: 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.
database_cross_reference: GARD:12916
database_cross_reference: MESH:C562717
database_cross_reference: MIM:268150
has_obo_namespace: disease_ontology
id: DOID:0050641
in_subset: DO_rare_slim

hemolytic anemia
type: Class
comment: OMIM mapping by NeuroDevNet, 2024 revised to subtypes. [LS].
subclass of: DOID 720
definition: A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
database_cross_reference: ICD10CM:D55-D59
database_cross_reference: MESH:D000743
database_cross_reference: NCI:C34376
database_cross_reference: SNOMEDCT_US_2025_09_01:61261009
database_cross_reference: UMLS_CUI:C0002878
has_exact_synonym: ANEMIA HEMOLYTIC
has_obo_namespace: disease_ontology
id: DOID:583
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3103426
annotated property: definition
annotated source: Rh deficiency syndrome
annotated target: 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.

hypochromic microcytic anemia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: microcytic anemia
definition: A microcytic anemia characterized by paler than normal blood cells.
database_cross_reference: MIM:206100
database_cross_reference: MIM:615234
has_obo_namespace: disease_ontology
id: DOID:0050642

microcytic anemia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: DOID 2355
definition: 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.
database_cross_reference: MESH:C562385
database_cross_reference: MIM:206200
database_cross_reference: SNOMEDCT_US_2025_09_01:722005000
database_cross_reference: UMLS_CUI:C0085576
has_obo_namespace: disease_ontology
id: DOID:11252

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypochromic_anemia
annotated property: definition
annotated source: hypochromic microcytic anemia
annotated target: A microcytic anemia characterized by paler than normal blood cells.

obsolete anonychia congenita
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050643
owl:deprecated: true

arterial calcification of infancy
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: artery disease
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001637
definition: 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.
database_cross_reference: GARD:8380
database_cross_reference: MESH:C537440
database_cross_reference: MIM:208000
database_cross_reference: MIM:614473
database_cross_reference: ORDO:51608
has_exact_synonym: generalized arterial calcification of infancy
has_exact_synonym: idiopathic infantile arterial calcification
has_exact_synonym: infantile arteriosclerosis
has_obo_namespace: disease_ontology
id: DOID:0050644
in_subset: DO_rare_slim

artery disease
type: Class
subclass of: vascular disease
definition: A vascular disease that is located_in an artery.
creation_date: 2014-02-12T03:08:35Z
has_obo_namespace: disease_ontology
id: DOID:0050828
equivalent class: Class
  intersection of: vascular disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001637

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification
database_cross_reference: url:http://www.omim.org/entry/208000
annotated property: definition
annotated source: arterial calcification of infancy
annotated target: 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.

arterial tortuosity syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: connective tissue disease
definition: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
database_cross_reference: GARD:774
database_cross_reference: MESH:C565942
database_cross_reference: MIM:208050
has_obo_namespace: disease_ontology
id: DOID:0050645
in_subset: DO_rare_slim

connective tissue disease
type: Class
subclass of: musculoskeletal system disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
database_cross_reference: MESH:D003240
database_cross_reference: NCI:C26729
database_cross_reference: SNOMEDCT_US_2025_09_01:201432001
database_cross_reference: UMLS_CUI:C0009782
has_exact_synonym: connective tissue disorder
has_exact_synonym: disorder of connective tissue
has_obo_namespace: disease_ontology
id: DOID:65
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002384

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome
annotated property: definition
annotated source: arterial tortuosity syndrome
annotated target: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.

distal arthrogryposis
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: muscle tissue disease
definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
database_cross_reference: GARD:786
database_cross_reference: MIM:PS108120
database_cross_reference: ORDO:1147
database_cross_reference: ORDO:97120
has_exact_synonym: Arthrogryposis Multiplex Congenita
has_obo_namespace: disease_ontology
id: DOID:0050646
in_subset: DO_rare_slim

muscle tissue disease
type: Class
subclass of: muscular disease
definition: A muscular disease located in the muscle tissue.
has_obo_namespace: disease_ontology
id: DOID:66

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Arthrogryposis
annotated property: definition
annotated source: distal arthrogryposis
annotated target: A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Arts syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: syndromic X-linked intellectual disability
definition: 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.
database_cross_reference: GARD:8756
database_cross_reference: MESH:C535388
database_cross_reference: MIM:301835
database_cross_reference: ORDO:1187
database_cross_reference: SNOMEDCT_US_2025_09_01:702441001
database_cross_reference: UMLS_CUI:C0796028
has_exact_synonym: ARTS
has_exact_synonym: Lethal ataxia with deafness and optic atrophy
has_exact_synonym: MRXS18
has_exact_synonym: MRXSARTS
has_exact_synonym: fatal X-linked ataxia with deafness and loss of vision
has_exact_synonym: syndromic X-linked mental retardation 18
has_exact_synonym: syndromic X-linked mental retardation Arts type
has_obo_namespace: disease_ontology
id: DOID:0050647
in_subset: DO_rare_slim

syndromic X-linked intellectual disability
type: Class
comment: NT MGI.
subclass of: X-linked monogenic disease
subclass of: syndromic intellectual disability
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: A syndromic intellectual disability characterized by an X-linked inheritance pattern.
creation_date: 2015-02-11T16:14:46Z
database_cross_reference: MIM:PS309510
has_exact_synonym: syndromic X-linked mental retardation
has_obo_namespace: disease_ontology
id: DOID:0060309

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/arts-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK2591/
database_cross_reference: url:http://www.omim.org/entry/301835
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20301738
annotated property: definition
annotated source: Arts syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Arts syndrome
annotated target: ARTS

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Arts syndrome
annotated target: MRXS18

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Arts syndrome
annotated target: MRXSARTS

atelosteogenesis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: osteochondrodysplasia
subclass of: spinal disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
definition: An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
database_cross_reference: MIM:108720
database_cross_reference: MIM:108721
database_cross_reference: MIM:256050
has_obo_namespace: disease_ontology
id: DOID:0050648

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1
annotated property: definition
annotated source: atelosteogenesis
annotated target: An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

atransferrinemia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: metal metabolism disorder
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:9595
database_cross_reference: MIM:209300
database_cross_reference: NCI:C125693
database_cross_reference: ORDO:1195
has_exact_synonym: familial hypotransferrinemia
has_obo_namespace: disease_ontology
id: DOID:0050649
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Atransferrinemia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29969719
database_cross_reference: url:https://www.omim.org/entry/209300
annotated property: definition
annotated source: atransferrinemia
annotated target: 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 atrial fibrillation
type: Class
comment: Xref MGI.
subclass of: atrial fibrillation
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000226
definition: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
database_cross_reference: GARD:9740
database_cross_reference: MIM:607554
database_cross_reference: MIM:608583
database_cross_reference: MIM:608988
database_cross_reference: MIM:611493
database_cross_reference: MIM:611494
database_cross_reference: MIM:612201
database_cross_reference: MIM:612240
database_cross_reference: MIM:613055
database_cross_reference: MIM:613980
database_cross_reference: MIM:614022
database_cross_reference: MIM:614049
database_cross_reference: MIM:614050
database_cross_reference: MIM:615377
database_cross_reference: MIM:615378
database_cross_reference: MIM:615770
database_cross_reference: MIM:PS608583
database_cross_reference: ORDO:334
has_exact_synonym: ATFB
has_obo_namespace: disease_ontology
id: DOID:0050650
in_subset: DO_rare_slim

atrial fibrillation
type: Class
subclass of: heart conduction disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000016
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000287
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000530
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000576
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000610
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019153
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019177
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019179
definition: 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.
creation_date: 2015-01-16T14:55:21Z
database_cross_reference: ICD9CM:427.31
database_cross_reference: MESH:D001281
database_cross_reference: NCI:C50466
database_cross_reference: SNOMEDCT_US_2025_09_01:266306001
database_cross_reference: UMLS_CUI:C0004238
has_exact_synonym: A-fib
has_exact_synonym: AFib
has_obo_namespace: disease_ontology
id: DOID:0060224
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_atrial_fibrillation
annotated property: definition
annotated source: familial atrial fibrillation
annotated target: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: familial atrial fibrillation
annotated target: ATFB

atrioventricular septal defect
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: heart septal defect
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_606217
definition: 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.
database_cross_reference: GARD:802
database_cross_reference: ICD10CM:Q21.2
database_cross_reference: ICD9CM:745.6
database_cross_reference: MESH:D004694
database_cross_reference: MIM:606215
database_cross_reference: MIM:614430
database_cross_reference: MIM:614474
database_cross_reference: ORDO:98722
database_cross_reference: SNOMEDCT_US_2025_09_01:204322008
database_cross_reference: UMLS_CUI:C0014116
has_exact_synonym: AVCD
has_exact_synonym: AVSD
has_exact_synonym: ECD
has_exact_synonym: atrioventricular canal defect
has_exact_synonym: endocardial cushion defect
has_obo_namespace: disease_ontology
id: DOID:0050651
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: heart disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0005989

heart septal defect
type: Class
subclass of: congenital heart disease
database_cross_reference: ICD10CM:Q21.9
database_cross_reference: MESH:D006343
database_cross_reference: NCI:C84482
database_cross_reference: SNOMEDCT_US_2025_09_01:59494005
database_cross_reference: UMLS_CUI:C0018816
has_exact_synonym: Cardiac septal defects
has_exact_synonym: Congenital septal defect of heart
has_exact_synonym: septal defect
has_obo_namespace: disease_ontology
id: DOID:1681
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: heart disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002099

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrioventricular_septal_defect
database_cross_reference: url:http://www.cdc.gov/ncbddd/heartdefects/avsd.html
annotated property: definition
annotated source: atrioventricular septal defect
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: atrioventricular septal defect
annotated target: AVCD

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: atrioventricular septal defect
annotated target: AVSD

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: atrioventricular septal defect
annotated target: ECD

obsolete soft tissue cancer
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050652
owl:deprecated: true

obsolete dysplastic nevus
type: Class
has_exact_synonym: nevus of Clark
has_obo_namespace: disease_ontology
id: DOID:0050653
owl:deprecated: true

Baller-Gerold syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: synostosis
definition: A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
database_cross_reference: GARD:1602
database_cross_reference: MESH:C536788
database_cross_reference: MIM:218600
database_cross_reference: ORDO:1223
database_cross_reference: SNOMEDCT_US_2025_09_01:77608001
database_cross_reference: UMLS_CUI:C0265308
has_obo_namespace: disease_ontology
id: DOID:0050654
in_subset: DO_rare_slim

synostosis
type: Class
subclass of: dysostosis
definition: A dysostosis that results_in abnormal fusing of adjacent bones.
database_cross_reference: MESH:D013580
database_cross_reference: UMLS_CUI:C0039093
has_obo_namespace: disease_ontology
id: DOID:11971

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1204/
annotated property: definition
annotated source: Baller-Gerold syndrome
annotated target: A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

Bamforth-Lazarus syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: hypothyroidism
definition: 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.
database_cross_reference: MIM:241850
has_exact_synonym: HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
has_obo_namespace: disease_ontology
id: DOID:0050655

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome
annotated property: definition
annotated source: Bamforth-Lazarus syndrome
annotated target: 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.

pseudo-TORCH syndrome 1
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:12426
database_cross_reference: MIM:251290
database_cross_reference: ORDO:1229
has_exact_synonym: BLC-PMG
has_exact_synonym: BLCPMG
has_exact_synonym: Baraitser-Brett-Piesowicz syndrome
has_exact_synonym: Baraitser-Reardon syndrome
has_exact_synonym: PTORCH1
has_exact_synonym: band-like calcification with simplified gyration and polymicrogyria
has_exact_synonym: bilateral band-like calcification with polymicrogyria
has_exact_synonym: microcephaly-intracranial calcification-intellectual disability syndrome
has_obo_namespace: disease_ontology
id: DOID:0050656
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20727516
annotated property: definition
annotated source: pseudo-TORCH syndrome 1
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: pseudo-TORCH syndrome 1
annotated target: BLC-PMG

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: pseudo-TORCH syndrome 1
annotated target: BLCPMG

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: pseudo-TORCH syndrome 1
annotated target: PTORCH1

Cowden syndrome 1
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: Cowden syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
has_alternative_id: DOID:0080191
database_cross_reference: GARD:12800
database_cross_reference: GARD:5887
database_cross_reference: GARD:6901
database_cross_reference: ICD10CM:Q85.81
database_cross_reference: ICDO:9493/0
database_cross_reference: MESH:D006223
database_cross_reference: MESH:D016715
database_cross_reference: MIM:158350
database_cross_reference: NCI:C179915
database_cross_reference: NCI:C179930
database_cross_reference: NCI:C8419
database_cross_reference: ORDO:109
database_cross_reference: ORDO:137608
database_cross_reference: ORDO:306498
database_cross_reference: ORDO:65285
database_cross_reference: SNOMEDCT_US_2025_09_01:67944007
database_cross_reference: SNOMEDCT_US_2025_09_01:716862002
database_cross_reference: SNOMEDCT_US_2025_09_01:722859001
database_cross_reference: SNOMEDCT_US_2025_09_01:763867001
database_cross_reference: UMLS_CUI:C0391826
database_cross_reference: UMLS_CUI:C1866398
database_cross_reference: UMLS_CUI:C1959582
database_cross_reference: UMLS_CUI:C4706610
has_exact_synonym: PHTS
has_exact_synonym: PTEN hamartoma tumor syndrome
has_exact_synonym: PTEN hamartoma tumour syndrome
has_narrow_synonym: BRRS
has_narrow_synonym: Bannayan-Riley-Ruvalcaba syndrome
has_narrow_synonym: Bannayan-Zonana syndrome
has_narrow_synonym: Lhermitte-Duclos disease
has_narrow_synonym: Proteus-like syndrome
has_narrow_synonym: Riley-Smith syndrome
has_narrow_synonym: Ruvalcaba-Myhre-Smith syndrome
has_narrow_synonym: SOLAMEN syndrome
has_narrow_synonym: dysplastic cerebellar gangliocytoma
has_narrow_synonym: dysplastic gangliocytoma of cerebellum
has_narrow_synonym: segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome
has_obo_namespace: disease_ontology
id: DOID:0050657
in_subset: DO_rare_slim
in_subset: NCIthesaurus
has narrower match: GARD:6901
has narrower match: ICDO:9493/0
has narrower match: NCI:C179930
has narrower match: NCI:C8419
has narrower match: ORDO:137608
has narrower match: ORDO:65285
has narrower match: UMLS_CUI:C0391826
has narrower match: UMLS_CUI:C1866398
has narrower match: UMLS_CUI:C4706610
has related match: MESH:D016715

Cowden syndrome
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: DOID_0070656
subclass of: Restriction
  on property: RO_0004029
  some values from: DOID 3462
definition: 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.
has_alternative_id: DOID:3471
database_cross_reference: MESH:D006223
database_cross_reference: GARD:6202
database_cross_reference: MIM:PS158350
database_cross_reference: NCI:C3076
database_cross_reference: ORDO:201
database_cross_reference: SNOMEDCT_US_2025_09_01:58037000
database_cross_reference: UMLS_CUI:C0018553
has_exact_synonym: Cowden disease
has_exact_synonym: multiple hamartoma syndrome
has_obo_namespace: disease_ontology
id: DOID:6457
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/41215730/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1488/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/31062505
annotated property: definition
annotated source: Cowden syndrome 1
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Cowden syndrome 1
annotated target: PHTS

Axiom
has_synonym_type: acronym
annotated property: has_narrow_synonym
annotated source: Cowden syndrome 1
annotated target: BRRS

Bart-Pumphrey syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:149200
has_exact_synonym: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
has_obo_namespace: disease_ontology
id: DOID:0050658

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome
annotated property: definition
annotated source: Bart-Pumphrey syndrome
annotated target: 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.

biotin-responsive basal ganglia disease
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: basal ganglia disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000005
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000016
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000124
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000493
subclass of: Restriction
  on property: RO_0004029
  some values from: dystonia
definition: 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.
database_cross_reference: MESH:C537658
database_cross_reference: MIM:607483
has_exact_synonym: biotin-thiamine-responsive basal ganglia disease
has_obo_namespace: disease_ontology
id: DOID:0050659

basal ganglia disease
type: Class
subclass of: brain disease
definition: 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.
database_cross_reference: MESH:D001480
database_cross_reference: SNOMEDCT_US_2025_09_01:70835005
database_cross_reference: UMLS_CUI:C0004782
has_obo_namespace: disease_ontology
id: DOID:679

dystonia
type: Class
subclass of: DOID 480
definition: A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
has_alternative_id: DOID:544
database_cross_reference: MESH:D020821
database_cross_reference: ICD10CM:G24
database_cross_reference: MESH:D004421
database_cross_reference: MIM:PS128100
database_cross_reference: NCI:C34563
database_cross_reference: SNOMEDCT_US_2025_09_01:15802004
database_cross_reference: SNOMEDCT_US_2025_09_01:250068003
database_cross_reference: UMLS_CUI:C0013421
database_cross_reference: UMLS_CUI:C0393593
has_exact_synonym: dystonic disease
has_obo_namespace: disease_ontology
id: DOID:543
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK169615/
annotated property: definition
annotated source: biotin-responsive basal ganglia disease
annotated target: 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.

Beare-Stevenson cutis gyrata syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:332
database_cross_reference: MIM:123790
has_obo_namespace: disease_ontology
id: DOID:0050660
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome
annotated property: definition
annotated source: Beare-Stevenson cutis gyrata syndrome
annotated target: 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
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: macular degeneration
definition: 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.
database_cross_reference: ICD10CM:H35.5
database_cross_reference: GARD:10120
database_cross_reference: GARD:182
database_cross_reference: MESH:D057826
database_cross_reference: MIM:153700
database_cross_reference: MIM:153840
database_cross_reference: MIM:608161
database_cross_reference: MIM:616151
database_cross_reference: MIM:616152
database_cross_reference: ORDO:1243
database_cross_reference: ORDO:99000
has_exact_synonym: Best disease
has_exact_synonym: Best macular dystrophy
has_exact_synonym: juvenile-onset vitelliform macular dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050661
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy
annotated property: definition
annotated source: vitelliform macular dystrophy
annotated target: 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.

bestrophinopathy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: macular degeneration
definition: 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.
database_cross_reference: MESH:C567518
database_cross_reference: MIM:611809
has_exact_synonym: autosomal recessive bestrophinopathy
has_obo_namespace: disease_ontology
id: DOID:0050662

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24859690
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25545482
database_cross_reference: url:https://www.omim.org/entry/611809
annotated property: definition
annotated source: bestrophinopathy
annotated target: 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.

Bethlem myopathy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: congenital muscular dystrophy
definition: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.
database_cross_reference: GARD:873
database_cross_reference: MESH:C535436
database_cross_reference: MIM:PS158810
database_cross_reference: NCI:C126688
database_cross_reference: ORDO:610
database_cross_reference: SNOMEDCT_US_2025_09_01:718572004
database_cross_reference: UMLS_CUI:C1834674
has_exact_synonym: benign congenital muscular dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050663
in_subset: DO_rare_slim
in_subset: NCIthesaurus
has narrower match: ORDO:610
has narrower match: UMLS_CUI:C1834674

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy
annotated property: definition
annotated source: Bethlem myopathy
annotated target: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly.

Bietti crystalline corneoretinal dystrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: retinal degeneration
definition: 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.
database_cross_reference: GARD:10050
database_cross_reference: MIM:210370
has_exact_synonym: Bietti's crystalline dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050664
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy
annotated property: definition
annotated source: Bietti crystalline corneoretinal dystrophy
annotated target: 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.

fetal alcohol syndrome
type: Class
subclass of: fetal alcohol spectrum disorder
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012759
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0410280
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_30879
definition: 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.
database_cross_reference: ICD10CM:Q86.0
has_obo_namespace: disease_ontology
id: DOID:0050665

fetal alcohol spectrum disorder
type: Class
subclass of: specific developmental disorder
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_30879
definition: 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.
creation_date: 2011-12-01T01:01:25Z
has_obo_namespace: disease_ontology
id: DOID:0050696

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html
annotated property: definition
annotated source: fetal alcohol syndrome
annotated target: 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.

partial fetal alcohol syndrome
type: Class
subclass of: fetal alcohol spectrum disorder
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012759
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0410280
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_30879
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050666

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
annotated property: definition
annotated source: partial fetal alcohol syndrome
annotated target: 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
type: Class
subclass of: fetal alcohol spectrum disorder
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012759
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0410280
definition: A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
has_exact_synonym: ARND
has_exact_synonym: static encephalopathy
has_obo_namespace: disease_ontology
id: DOID:0050667

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
annotated property: definition
annotated source: alcohol-related neurodevelopmental disorder
annotated target: A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: alcohol-related neurodevelopmental disorder
annotated target: ARND

alcohol-related birth defects
type: Class
subclass of: fetal alcohol spectrum disorder
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0410280
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_30879
definition: A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
has_exact_synonym: ARBD
has_obo_namespace: disease_ontology
id: DOID:0050668

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html
annotated property: definition
annotated source: alcohol-related birth defects
annotated target: A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: alcohol-related birth defects
annotated target: ARBD

spastic cerebral palsy
type: Class
subclass of: cerebral palsy
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050669

cerebral palsy
type: Class
subclass of: brain disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001893
definition: 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.
has_alternative_id: DOID:1968
database_cross_reference: MESH:D002547
database_cross_reference: SNOMEDCT_US_2025_09_01:155024003
database_cross_reference: ICD10CM:G80
database_cross_reference: NCI:C34460
database_cross_reference: UMLS_CUI:C0007789
has_exact_synonym: infantile cerebral palsy
has_obo_namespace: disease_ontology
id: DOID:1969
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html
annotated property: definition
annotated source: spastic cerebral palsy
annotated target: 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.

ataxic cerebral palsy
type: Class
subclass of: cerebral palsy
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0001252
definition: 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.
database_cross_reference: GARD:10451
database_cross_reference: MIM:605388
has_exact_synonym: hypotonic cerebral palsy
has_obo_namespace: disease_ontology
id: DOID:0050670
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic
database_cross_reference: url:http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html
annotated property: definition
annotated source: ataxic cerebral palsy
annotated target: 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.

female breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that develops from breast tissue in females.
creation_date: 2011-06-15T02:48:20Z
has_obo_namespace: disease_ontology
id: DOID:0050671

breast cancer
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: organ system cancer
subclass of: breast disease
definition: An organ system cancer that originates in the mammary gland.
has_alternative_id: DOID:1648
has_alternative_id: DOID:4241
database_cross_reference: ICD10CM:C50
database_cross_reference: MESH:D001943
database_cross_reference: MIM:114480
database_cross_reference: NCI:C9335
database_cross_reference: SNOMEDCT_US_2025_09_01:254837009
database_cross_reference: UMLS_CUI:C0006142
has_exact_synonym: breast tumor
has_exact_synonym: malignant neoplasm of breast
has_exact_synonym: malignant tumor of the breast
has_exact_synonym: mammary cancer
has_exact_synonym: mammary tumor
has_exact_synonym: primary breast cancer
has_obo_namespace: disease_ontology
has_related_synonym: mammary neoplasm
id: DOID:1612
in_subset: DO_CFDE_slim
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000310

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Breast_cancer
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24703317
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25002350
annotated property: definition
annotated source: female breast cancer
annotated target: A breast cancer that develops from breast tissue in females.

dyskinetic cerebral palsy
type: Class
subclass of: cerebral palsy
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0001252
definition: 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.
has_exact_synonym: Athetoid Dyskinetic Cerebral Palsy
has_obo_namespace: disease_ontology
id: DOID:0050672

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic
annotated property: definition
annotated source: dyskinetic cerebral palsy
annotated target: 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.

mixed cerebral palsy
type: Class
subclass of: cerebral palsy
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050673

Axiom
database_cross_reference: url:http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy
database_cross_reference: url:http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html
annotated property: definition
annotated source: mixed cerebral palsy
annotated target: 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
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: physical disorder
subclass of: steroid inherited metabolic disorder
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
database_cross_reference: ICD10CM:K76.8
database_cross_reference: ORDO:485631
has_exact_synonym: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
has_exact_synonym: CBA
has_exact_synonym: cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050674
in_subset: DO_rare_slim

steroid inherited metabolic disorder
type: Class
subclass of: DOID 3146
definition: A lipid metabolism disorder that involves defects in steroid metabolism.
database_cross_reference: MESH:D043202
database_cross_reference: UMLS_CUI:C1257809
has_obo_namespace: disease_ontology
id: DOID:1701

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12543708
annotated property: definition
annotated source: congenital bile acid synthesis defect
annotated target: A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: congenital bile acid synthesis defect
annotated target: CBA

Birk-Barel syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:10358
database_cross_reference: MESH:C567357
database_cross_reference: MIM:612292
has_exact_synonym: Birk-Barel mental retardation dysmorphism syndrome
has_obo_namespace: disease_ontology
id: DOID:0050675
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy
annotated property: definition
annotated source: Birk-Barel syndrome
annotated target: 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.

Birt-Hogg-Dube syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: skin disease
subclass of: autosomal dominant disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:2322
database_cross_reference: MESH:D058249
database_cross_reference: MIM:135150
has_obo_namespace: disease_ontology
id: DOID:0050676
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
annotated property: definition
annotated source: Birt-Hogg-Dube syndrome
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:22
database_cross_reference: MESH:C537633
database_cross_reference: MIM:262000
database_cross_reference: ORDO:123
database_cross_reference: SNOMEDCT_US_2025_09_01:67817003
database_cross_reference: UMLS_CUI:C0266006
has_exact_synonym: BJS
has_exact_synonym: PTD
has_exact_synonym: deafness-pili torti-hypogonadism syndrome
has_obo_namespace: disease_ontology
id: DOID:0050677
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
annotated property: definition
annotated source: Bjornstad syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Bjornstad syndrome
annotated target: BJS

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Bjornstad syndrome
annotated target: PTD

Blau syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
database_cross_reference: GARD:304
database_cross_reference: MESH:C538157
database_cross_reference: MIM:186580
database_cross_reference: NCI:C116794
has_exact_synonym: ARTHROCUTANEOUVEAL GRANULOMATOSIS
has_exact_synonym: BLAUS
has_exact_synonym: Jabs syndrome
has_obo_namespace: disease_ontology
id: DOID:0050678
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Blau_syndrome
database_cross_reference: url:http://www.omim.org/entry/186580?search=186580&highlight=186580
annotated property: definition
annotated source: Blau syndrome
annotated target: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Blau syndrome
annotated target: BLAUS

blue cone monochromacy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: X-linked recessive disease
subclass of: achromatopsia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: GARD:917
database_cross_reference: MIM:303700
has_obo_namespace: disease_ontology
id: DOID:0050679
in_subset: DO_rare_slim

achromatopsia
type: Class
subclass of: DOID_13399
definition: 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.
database_cross_reference: MESH:D003117
database_cross_reference: ICD10CM:H53.51
database_cross_reference: ICD9CM:368.54
database_cross_reference: NCI:C84528
database_cross_reference: ORDO:49382
database_cross_reference: SNOMEDCT_US_2025_09_01:56852002
database_cross_reference: UMLS_CUI:C0152200
has_exact_synonym: ACHM
has_exact_synonym: Monochromatism
has_obo_namespace: disease_ontology
id: DOID:13911
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/303700
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16
annotated property: definition
annotated source: blue cone monochromacy
annotated target: 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.

Boomerang dysplasia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: osteochondrodysplasia
definition: 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.
database_cross_reference: GARD:933
database_cross_reference: MESH:C536573
database_cross_reference: MIM:112310
has_obo_namespace: disease_ontology
id: DOID:0050680
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia
annotated property: definition
annotated source: Boomerang dysplasia
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: X-linked recessive disease
subclass of: syndromic X-linked intellectual disability
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: GARD:936
database_cross_reference: MESH:C536575
database_cross_reference: MIM:301900
database_cross_reference: NCI:C157122
database_cross_reference: ORDO:127
database_cross_reference: SNOMEDCT_US_2025_09_01:21634003
database_cross_reference: UMLS_CUI:C0265339
has_exact_synonym: BFLS
has_exact_synonym: BORJ
has_exact_synonym: Borjeson syndrome
has_exact_synonym: MRXSBFL
has_exact_synonym: intellectual deficiency-epilepsy-endocrine disorders syndrome
has_exact_synonym: mental retardation, epilepsy, and endocrine disorder
has_exact_synonym: syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
has_obo_namespace: disease_ontology
id: DOID:0050681
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html
annotated property: definition
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated target: BFLS

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated target: BORJ

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated target: MRXSBFL

Athabaskan brainstem dysgenesis syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: brain disease
subclass of: autosomal recessive disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
database_cross_reference: MIM:601536
database_cross_reference: ORDO:69739
has_exact_synonym: NAVAJO BRAINSTEM SYNDROME
has_obo_namespace: disease_ontology
id: DOID:0050682
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18412118
database_cross_reference: url:https://www.omim.org/entry/601536
annotated property: definition
annotated source: Athabaskan brainstem dysgenesis syndrome
annotated target: A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.

Bothnia retinal dystrophy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: fundus dystrophy
definition: 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.
database_cross_reference: MESH:C564392
database_cross_reference: MIM:607475
has_exact_synonym: Vasterbotten dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050683

fundus dystrophy
type: Class
subclass of: eye disease
database_cross_reference: MESH:D058499
database_cross_reference: NCI:C35625
database_cross_reference: SNOMEDCT_US_2025_09_01:314407005
database_cross_reference: UMLS_CUI:C0854723
has_exact_synonym: Retinal Dystrophy
has_obo_namespace: disease_ontology
id: DOID:8501
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11176989
database_cross_reference: url:https://www.omim.org/entry/607475
annotated property: definition
annotated source: Bothnia retinal dystrophy
annotated target: 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.

Bowen-Conradi syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:5950
database_cross_reference: MESH:C537081
database_cross_reference: MIM:211180
database_cross_reference: ORDO:1270
database_cross_reference: SNOMEDCT_US_2025_09_01:711153001
database_cross_reference: UMLS_CUI:C1859405
has_exact_synonym: BWCNS
has_exact_synonym: Bowen Hutterite syndrome
has_exact_synonym: Bowen-Conradi Hutterite syndrome
has_obo_namespace: disease_ontology
id: DOID:0050684
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19463982
database_cross_reference: url:https://www.omim.org/entry/211180
annotated property: definition
annotated source: Bowen-Conradi syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Bowen-Conradi syndrome
annotated target: BWCNS

small cell carcinoma
type: Class
subclass of: carcinoma
definition: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
creation_date: 2011-06-13T01:25:14Z
has_alternative_id: DOID:7137
database_cross_reference: ICDO:8041/3
database_cross_reference: NCI:C4099
database_cross_reference: SNOMEDCT_US_2025_09_01:189557009
database_cross_reference: UMLS_CUI:C0334239
has_exact_synonym: Small cell carcinoma - intermediate cell
has_exact_synonym: Small cell carcinoma, intermediate cell
has_exact_synonym: intermediate cell small cell carcinoma
has_obo_namespace: disease_ontology
id: DOID:0050685
in_subset: NCIthesaurus

carcinoma
type: Class
subclass of: cell type cancer
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_alternative_id: DOID:2428
has_alternative_id: DOID:6570
database_cross_reference: SNOMEDCT_US_2025_09_01:269513004
database_cross_reference: ICDO:8010/3
database_cross_reference: MESH:D002277
database_cross_reference: MESH:D009375
database_cross_reference: NCI:C2916
database_cross_reference: NCI:C3709
database_cross_reference: SNOMEDCT_US_2025_09_01:188083002
database_cross_reference: SNOMEDCT_US_2025_09_01:71298006
database_cross_reference: UMLS_CUI:C0007097
database_cross_reference: UMLS_CUI:C0553707
database_cross_reference: UMLS_CUI:C1368683
has_exact_synonym: epithelial cancer
has_exact_synonym: epithelioma
has_exact_synonym: malignant Epithelioma
has_obo_namespace: disease_ontology
id: DOID:305
in_subset: DO_FlyBase_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Small_cell_carcinoma
annotated property: definition
annotated source: small cell carcinoma
annotated target: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.

Axiom
database_cross_reference: url:https://www.cancer.gov/types/by-body-location
annotated property: definition
annotated source: organ system cancer
annotated target: A cancer that is classified based on the organ it starts in.

cell type cancer
type: Class
subclass of: cancer
definition: A cancer that is classified by the type of cell from which it is derived.
creation_date: 2011-06-13T03:28:50Z
has_obo_namespace: disease_ontology
id: DOID:0050687
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000000

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cancer
annotated property: definition
annotated source: cell type cancer
annotated target: A cancer that is classified by the type of cell from which it is derived.

anal canal cancer
type: Class
subclass of: large intestine cancer
definition: A large intestine cancer that is located_in the terminal part of the large intestine.
creation_date: 2011-06-14T01:34:36Z
has_obo_namespace: disease_ontology
id: DOID:0050688
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000159

large intestine cancer
type: Class
subclass of: DOID_10155
definition: 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.
has_alternative_id: DOID:1994
has_alternative_id: DOID:1997
database_cross_reference: ICD10CM:C18.9
database_cross_reference: NCI:C4978
database_cross_reference: SNOMEDCT_US_2025_09_01:93854002
database_cross_reference: UMLS_CUI:C0346629
has_obo_namespace: disease_ontology
id: DOID:5672
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000059

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Anal_canal
annotated property: definition
annotated source: anal canal cancer
annotated target: A large intestine cancer that is located_in the terminal part of the large intestine.

brachydactyly-syndactyly syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
creation_date: 2011-06-17T03:55:47Z
database_cross_reference: MESH:C565193
database_cross_reference: MIM:610713
has_obo_namespace: disease_ontology
id: DOID:0050689

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17236141
database_cross_reference: url:https://www.omim.org/entry/610713
annotated property: definition
annotated source: brachydactyly-syndactyly syndrome
annotated target: A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

brachyolmia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: osteochondrodysplasia
definition: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
creation_date: 2011-06-17T04:00:27Z
database_cross_reference: GARD:10903
database_cross_reference: MESH:C537098
database_cross_reference: MIM:113500
database_cross_reference: MIM:271530
database_cross_reference: MIM:271630
database_cross_reference: MIM:613678
database_cross_reference: ORDO:1293
has_exact_synonym: brachyrachia
has_obo_namespace: disease_ontology
id: DOID:0050690
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10968486
annotated property: definition
annotated source: brachyolmia
annotated target: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.

branchiooculofacial syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
creation_date: 2011-06-17T04:10:18Z
database_cross_reference: GARD:3212
database_cross_reference: MIM:113620
has_obo_namespace: disease_ontology
id: DOID:0050691
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK55063/
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract
annotated property: definition
annotated source: branchiooculofacial syndrome
annotated target: A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.

Brody myopathy
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: atrophic muscular disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001134
definition: A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.
creation_date: 2011-06-17T04:30:49Z
database_cross_reference: GARD:9158
database_cross_reference: MESH:C536607
database_cross_reference: MIM:601003
has_obo_namespace: disease_ontology
id: DOID:0050692
in_subset: DO_rare_slim

atrophic muscular disease
type: Class
subclass of: muscular disease
subclass of: DOID 440
definition: A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.
database_cross_reference: MESH:D020966
database_cross_reference: NCI:C84574
database_cross_reference: UMLS_CUI:C0752352
has_obo_namespace: disease_ontology
id: DOID:913
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: DOID 440
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002385

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/brody-myopathy
annotated property: definition
annotated source: Brody myopathy
annotated target: A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.

Brooke-Spiegler syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: skin disease
subclass of: autosomal dominant disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
creation_date: 2011-06-17T04:34:10Z
database_cross_reference: GARD:10179
database_cross_reference: MIM:605041
database_cross_reference: NCI:C43352
database_cross_reference: ORDO:79493
database_cross_reference: SNOMEDCT_US_2025_09_01:703531009
database_cross_reference: UMLS_CUI:C1857941
has_exact_synonym: BRSS
has_exact_synonym: BSS
has_exact_synonym: CYLD cutaneous syndrome
has_exact_synonym: SBS
has_exact_synonym: Spiegler-Brooke Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050693
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome
annotated property: definition
annotated source: Brooke-Spiegler syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Brooke-Spiegler syndrome
annotated target: BRSS

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Brooke-Spiegler syndrome
annotated target: BSS

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Brooke-Spiegler syndrome
annotated target: SBS

Brown-Vialetto-Van Laere syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: syndrome
definition: 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.
creation_date: 2011-06-17T04:38:07Z
database_cross_reference: MESH:C537111
database_cross_reference: MIM:PS211530
has_obo_namespace: disease_ontology
id: DOID:0050694

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21110228
annotated property: definition
annotated source: Brown-Vialetto-Van Laere syndrome
annotated target: 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
type: Class
subclass of: pleural cancer
definition: A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.
creation_date: 2011-06-27T09:57:44Z
has_obo_namespace: disease_ontology
id: DOID:0050695

pleural cancer
type: Class
subclass of: connective tissue cancer
definition: A connective tissue cancer that located_in the pleura.
has_alternative_id: DOID:9917
database_cross_reference: ICD10CM:C38.4
database_cross_reference: ICD9CM:163
database_cross_reference: MESH:D010997
database_cross_reference: NCI:C3332
database_cross_reference: NCI:C3547
database_cross_reference: SNOMEDCT_US_2025_09_01:126719004
database_cross_reference: SNOMEDCT_US_2025_09_01:363433009
database_cross_reference: UMLS_CUI:C0032229
database_cross_reference: UMLS_CUI:C0153494
has_exact_synonym: Pleural tumor
has_exact_synonym: neoplasm of pleura
has_obo_namespace: disease_ontology
id: DOID:5158
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17075563
annotated property: definition
annotated source: malignant pleural solitary fibrous tumor
annotated target: A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.

specific developmental disorder
type: Class
subclass of: developmental disorder of mental health
definition: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
has_obo_namespace: disease_ontology
id: DOID:0060038

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
annotated property: definition
annotated source: fetal alcohol spectrum disorder
annotated target: 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.

chorioamnionitis
type: Class
subclass of: placenta disease
definition: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
creation_date: 2012-01-03T01:13:08Z
database_cross_reference: MESH:D002821
has_obo_namespace: disease_ontology
id: DOID:0050697

placenta disease
type: Class
subclass of: uterine disease
definition: A uterine disease that is located_in the placenta.
has_alternative_id: DOID:1815
has_alternative_id: DOID:5366
has_alternative_id: DOID:9219
database_cross_reference: GARD:7402
database_cross_reference: ICD10CM:O43
database_cross_reference: ICD9CM:646.9
database_cross_reference: MESH:D010922
database_cross_reference: MESH:D011248
database_cross_reference: NCI:C26857
database_cross_reference: NCI:C27619
database_cross_reference: NCI:C34941
database_cross_reference: NCI:C35169
database_cross_reference: SNOMEDCT_US_2025_09_01:125586008
database_cross_reference: SNOMEDCT_US_2025_09_01:172422001
database_cross_reference: SNOMEDCT_US_2025_09_01:198881004
database_cross_reference: UMLS_CUI:C0032045
database_cross_reference: UMLS_CUI:C0032962
database_cross_reference: UMLS_CUI:C0151864
database_cross_reference: UMLS_CUI:C1335423
has_obo_namespace: disease_ontology
id: DOID:780
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001987

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007643
database_cross_reference: url:http://en.wikipedia.org/wiki/Chorioamnionitis
database_cross_reference: url:http://www.merriam-webster.com/medlineplus/Chorioamnionitis
annotated property: definition
annotated source: chorioamnionitis
annotated target: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.

funisitis
type: Class
subclass of: connective tissue disease
definition: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
creation_date: 2012-01-03T01:18:35Z
has_obo_namespace: disease_ontology
id: DOID:0050698

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Funisitis
annotated property: definition
annotated source: funisitis
annotated target: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.

Dent disease
type: Class
subclass of: renal tubular transport disease
subclass of: X-linked recessive disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.
creation_date: 2015-03-12T14:32:47Z
database_cross_reference: GARD:13105
database_cross_reference: MESH:D057973
database_cross_reference: MIM:PS300009
database_cross_reference: NCI:C123260
database_cross_reference: ORDO:1652
database_cross_reference: SNOMEDCT_US_2025_09_01:444645005
database_cross_reference: UMLS_CUI:C0878681
has_exact_synonym: Dent's disease
has_exact_synonym: X-linked hypercalciuric nephrocalcinosis
has_obo_namespace: disease_ontology
id: DOID:0050699
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Dent%27s_disease
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/dent-disease
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652
database_cross_reference: url:https://www.dentdisease.org/
annotated property: definition
annotated source: Dent disease
annotated target: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.

cardiomyopathy
type: Class
comment: MESH:D009202 added from NeuroDevNet [WAK].
subclass of: heart disease
definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
creation_date: 2012-01-03T02:54:11Z
database_cross_reference: ICD10CM:I42
database_cross_reference: ICD9CM:425
database_cross_reference: ICD9CM:425.9
database_cross_reference: MESH:D009202
database_cross_reference: NCI:C34830
database_cross_reference: NCI:C53654
database_cross_reference: SNOMEDCT_US_2025_09_01:266301006
database_cross_reference: SNOMEDCT_US_2025_09_01:89461002
database_cross_reference: SNOMEDCT_US_2025_09_01:89600009
database_cross_reference: UMLS_CUI:C0033141
database_cross_reference: UMLS_CUI:C0036529
database_cross_reference: UMLS_CUI:C0878544
has_exact_synonym: Cardiomyopathies
has_obo_namespace: disease_ontology
id: DOID:0050700
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiomyopathy
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/
annotated property: definition
annotated source: cardiomyopathy
annotated target: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.

electroclinical syndrome
type: Class
subclass of: epilepsy
definition: 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.
creation_date: 2012-04-11T11:42:46Z
has_exact_synonym: electro-clinical syndrome
has_obo_namespace: disease_ontology
id: DOID:0050701

epilepsy
type: Class
subclass of: brain disease
definition: 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.
database_cross_reference: EFO:0000474
database_cross_reference: ICD10CM:G40.909
database_cross_reference: ICD9CM:345.9
database_cross_reference: MESH:D004827
database_cross_reference: NCI:C3020
database_cross_reference: SNOMEDCT_US_2025_09_01:267698007
database_cross_reference: UMLS_CUI:C0014544
has_exact_synonym: epilepsy syndrome
has_exact_synonym: epileptic syndrome
has_obo_namespace: disease_ontology
id: DOID:1826
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus
has narrower match: ICD10CM:G40.909
has narrower match: ICD10CM:G40.9

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated property: definition
annotated source: electroclinical syndrome
annotated target: 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.

neonatal period electroclinical syndrome
type: Class
comment: JA:Epilepsy Genetics Kiel
subclass of: electroclinical syndrome
definition: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050702

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22182677
annotated property: definition
annotated source: neonatal period electroclinical syndrome
annotated target: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated property: definition
annotated source: infancy electroclinical syndrome
annotated target: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.

absence epilepsy
type: Class
subclass of: electroclinical syndrome
definition: 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.
database_cross_reference: MESH:D004832
has_obo_namespace: disease_ontology
id: DOID:0070309

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated property: definition
annotated source: childhood electroclinical syndrome
annotated target: An electroclinical syndrome with onset in childhood between one and 12 years of age.

adolescence-adult electroclinical syndrome
type: Class
subclass of: absence epilepsy
subclass of: Restriction
  on property: RO_0002488
  some values from: Class
    union of: HP_0003581
    union of: HP_0011462
definition: An electroclinical syndrome with onset in adolescence and adulthood.
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050705

Axiom
comment: JA:Epilepsy_Genetics_Kiel
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795
annotated property: definition
annotated source: adolescence-adult electroclinical syndrome
annotated target: An electroclinical syndrome with onset in adolescence and adulthood.

variable age at onset electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
definition: An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050706

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/
annotated property: definition
annotated source: variable age at onset electroclinical syndrome
annotated target: An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.

obsolete nonsyndromic epilepsy
type: Class
creation_date: 2012-04-11T01:42:13Z
has_obo_namespace: disease_ontology
id: DOID:0050707
owl:deprecated: true

early onset absence epilepsy
type: Class
comment: JA:Epilepsy Genetics Kiel
subclass of: childhood electroclinical syndrome
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011463
definition: A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
creation_date: 2012-04-11T02:29:04Z
has_obo_namespace: disease_ontology
id: DOID:0050708

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24099057
annotated property: definition
annotated source: early onset absence epilepsy
annotated target: 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
type: Class
subclass of: neonatal period electroclinical syndrome
definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
creation_date: 2012-05-10T10:02:58Z
has_alternative_id: DOID:2481
database_cross_reference: GARD:9255
database_cross_reference: ORDO:1934
has_exact_synonym: Early Infantile Epileptic Encephalopathy with Burst-Suppression
has_obo_namespace: disease_ontology
id: DOID:0050709
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ohtahara_syndrome
database_cross_reference: url:http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm
annotated property: definition
annotated source: early infantile epileptic encephalopathy
annotated target: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.

3-methylcrotonyl-CoA carboxylase deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: amino acid metabolic disorder
subclass of: muscular disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0001252
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0003202
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000075
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000355
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
definition: 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.
creation_date: 2012-05-22T10:32:44Z
database_cross_reference: GARD:10954
database_cross_reference: MIM:PS210200
database_cross_reference: ORDO:6
has_exact_synonym: 3-Methylcrotonylglycinuria
has_exact_synonym: 3MCC deficiency
has_exact_synonym: BMCC deficiency
has_obo_namespace: disease_ontology
id: DOID:0050710
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: amino acid metabolic disorder
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002385

muscular disease
type: Class
subclass of: musculoskeletal system disease
definition: A musculoskeletal system disease that affects the muscles.
has_obo_namespace: disease_ontology
id: DOID:0080000
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002385

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency
database_cross_reference: url:http://omim.org/entry/210200
annotated property: definition
annotated source: 3-methylcrotonyl-CoA carboxylase deficiency
annotated target: 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.

aceruloplasminemia
type: Class
subclass of: autosomal recessive disease
subclass of: inherited metabolic disorder
subclass of: iron metabolism disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2012-05-22T11:47:25Z
database_cross_reference: GARD:9499
database_cross_reference: MIM:604290
has_obo_namespace: disease_ontology
id: DOID:0050711
in_subset: DO_rare_slim

iron metabolism disease
type: Class
subclass of: mineral metabolism disease
database_cross_reference: ICD10CM:E83.1
database_cross_reference: ICD9CM:275.0
database_cross_reference: MESH:D019189
database_cross_reference: SNOMEDCT_US_2025_09_01:30913008
database_cross_reference: UMLS_CUI:C0012715
has_exact_synonym: disorder of iron metabolism
has_exact_synonym: iron disorder
has_obo_namespace: disease_ontology
id: DOID:2351

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Aceruloplasminemia
database_cross_reference: url:http://omim.org/entry/604290?search=604290&highlight=604290
annotated property: definition
annotated source: aceruloplasminemia
annotated target: 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.

AGAT deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: cerebral creatine deficiency syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2012-05-22T11:53:57Z
database_cross_reference: MIM:612718
has_exact_synonym: Cerebral creatine deficiency syndrome 3
has_exact_synonym: arginine glycine amidinotransferase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050712

cerebral creatine deficiency syndrome
type: Class
subclass of: amino acid metabolic disorder
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001893
definition: 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.
creation_date: 2013-11-21T12:10:58Z
database_cross_reference: MIM:PS300352
has_obo_namespace: disease_ontology
id: DOID:0050798

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency
annotated property: definition
annotated source: AGAT deficiency
annotated target: 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.

COX deficiency, infantile mitochondrial myopathy
type: Class
comment: Xref MGI.
subclass of: cytochrome-c oxidase deficiency disease
definition: A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.
creation_date: 2012-05-22T01:03:41Z
database_cross_reference: ORDO:1561
database_cross_reference: SNOMEDCT_US_2025_09_01:718124006
database_cross_reference: UMLS_CUI:C4273730
has_exact_synonym: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
has_exact_synonym: fatal infantile COX deficiency
has_exact_synonym: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
has_exact_synonym: fatal infantile cytochrome C oxidase deficiency
has_exact_synonym: fatal infantile encephalocardiomyopathy
has_obo_namespace: disease_ontology
id: DOID:0050713
in_subset: DO_rare_slim

cytochrome-c oxidase deficiency disease
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: mitochondrial metabolism disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000470
definition: 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.
database_cross_reference: GARD:48
database_cross_reference: MESH:D030401
database_cross_reference: MIM:PS220110
database_cross_reference: NCI:C98910
database_cross_reference: SNOMEDCT_US_2025_09_01:237991006
database_cross_reference: UMLS_CUI:C0268237
has_exact_synonym: MITOCHONDRIAL COMPLEX IV DEFICIENCY
has_obo_namespace: disease_ontology
id: DOID:3762
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/
annotated property: definition
annotated source: COX deficiency, infantile mitochondrial myopathy
annotated target: A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

methylmalonic aciduria and homocystinuria type cblC
type: Class
subclass of: digenic disease
subclass of: methylmalonic acidemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000930
definition: 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.
creation_date: 2012-05-23T03:26:25Z
database_cross_reference: MIM:277400
has_exact_synonym: Cobalamin C deficiency
has_exact_synonym: MAHCC
has_obo_namespace: disease_ontology
id: DOID:0050715

methylmalonic acidemia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: organic acidemia
definition: An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
has_alternative_id: DOID:14782
has_alternative_id: DOID:14802
database_cross_reference: GARD:7033
database_cross_reference: MESH:C537358
has_exact_synonym: methylmalonic aciduria
has_obo_namespace: disease_ontology
id: DOID:14749
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
annotated property: definition
annotated source: methylmalonic aciduria and homocystinuria type cblC
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: methylmalonic aciduria and homocystinuria type cblC
annotated target: MAHCC

methylmalonic aciduria and homocystinuria type cblD
type: Class
subclass of: methylmalonic acidemia
definition: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
creation_date: 2012-05-23T03:26:25Z
database_cross_reference: MIM:277410
has_exact_synonym: Cobalamin D deficiency
has_exact_synonym: MAHCD
has_obo_namespace: disease_ontology
id: DOID:0050716

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18385497
annotated property: definition
annotated source: methylmalonic aciduria and homocystinuria type cblD
annotated target: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: methylmalonic aciduria and homocystinuria type cblD
annotated target: MAHCD

methylmalonic aciduria and homocystinuria type cblF
type: Class
subclass of: methylmalonic acidemia
definition: 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.
creation_date: 2012-05-23T03:26:25Z
database_cross_reference: MIM:277380
has_exact_synonym: Cobalamin F deficiency
has_exact_synonym: MAHCF
has_obo_namespace: disease_ontology
id: DOID:0050717

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21910240
annotated property: definition
annotated source: methylmalonic aciduria and homocystinuria type cblF
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: methylmalonic aciduria and homocystinuria type cblF
annotated target: MAHCF

vitamin metabolic disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
creation_date: 2012-06-11T02:44:53Z
has_obo_namespace: disease_ontology
id: DOID:0050718

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism
annotated property: definition
annotated source: vitamin metabolic disorder
annotated target: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.

cerebral folate receptor alpha deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: vitamin metabolic disorder
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001893
definition: 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.
creation_date: 2012-06-11T02:58:59Z
database_cross_reference: MIM:613068
has_exact_synonym: Neurodegeneration due to cerebral folate transport deficiency
has_obo_namespace: disease_ontology
id: DOID:0050719

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/B_vitamins
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19732866
annotated property: definition
annotated source: cerebral folate receptor alpha deficiency
annotated target: 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.

ornithine translocase deficiency
type: Class
subclass of: amino acid metabolic disorder
subclass of: Restriction
  on property: has material basis in
  some values from: CHEBI_16134
definition: An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: GARD:2830
database_cross_reference: MIM:238970
has_exact_synonym: HHH syndrome
has_exact_synonym: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
has_obo_namespace: disease_ontology
id: DOID:0050720
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency
annotated property: definition
annotated source: ornithine translocase deficiency
annotated target: An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.

serine deficiency
type: Class
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
creation_date: 2012-06-13T03:09:31Z
has_obo_namespace: disease_ontology
id: DOID:0050721

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15021249
annotated property: definition
annotated source: serine deficiency
annotated target: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.

PHGDH deficiency
type: Class
subclass of: serine deficiency
definition: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: MESH:C566618
database_cross_reference: MIM:601815
has_exact_synonym: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
has_obo_namespace: disease_ontology
id: DOID:0050722

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pubmed?term=18296366
database_cross_reference: url:http://www.omim.org/entry/601815
annotated property: definition
annotated source: PHGDH deficiency
annotated target: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.

PSAT deficiency
type: Class
subclass of: serine deficiency
definition: 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.
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: MIM:610992
has_exact_synonym: Phosphoserine aminotransferase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050723

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/
database_cross_reference: url:http://www.omim.org/entry/610992?search=610992&highlight=610992
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417
annotated property: definition
annotated source: PSAT deficiency
annotated target: 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.

PSPH deficiency
type: Class
subclass of: serine deficiency
definition: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: MIM:614023
has_exact_synonym: PSPHD
has_exact_synonym: Phosphoserine phosphatase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050724

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/PSPH
database_cross_reference: url:http://www.omim.org/entry/614023
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350
annotated property: definition
annotated source: PSPH deficiency
annotated target: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: PSPH deficiency
annotated target: PSPHD

tyrosinemia type II
type: Class
subclass of: skin disease
subclass of: liver disease
subclass of: tyrosinemia
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0000972
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0003231
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000314
definition: 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.
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: MIM:276600
has_exact_synonym: Oculocutaneous tyrosinemia
has_exact_synonym: Richner-Hanhart syndrome
has_obo_namespace: disease_ontology
id: DOID:0050725
equivalent class: Class
  intersection of: amino acid metabolic disorder
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002107

tyrosinemia
type: Class
comment: OMIM mapping submitted by NeuroDevNet. [LS].
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
database_cross_reference: ICD10CM:E70.21
database_cross_reference: SNOMEDCT_US_2025_09_01:190694001
database_cross_reference: UMLS_CUI:C0268483
has_obo_namespace: disease_ontology
id: DOID:9275

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Tyrosinemia_type_II
database_cross_reference: url:http://www.omim.org/entry/276600?search=276600&highlight=276600
annotated property: definition
annotated source: tyrosinemia type II
annotated target: 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.

tyrosinemia type I
type: Class
subclass of: tyrosinemia
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0003231
definition: 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.
creation_date: 2012-07-06T02:55:45Z
database_cross_reference: MIM:276700
has_exact_synonym: hepatorenal tyrosinemia
has_obo_namespace: disease_ontology
id: DOID:0050726

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Type_I_tyrosinemia
annotated property: definition
annotated source: tyrosinemia type I
annotated target: 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.

tyrosinemia type III
type: Class
subclass of: tyrosinemia
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0003231
definition: A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
creation_date: 2012-07-06T02:55:45Z
database_cross_reference: MIM:276710
has_obo_namespace: disease_ontology
id: DOID:0050727

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Type_III_tyrosinemia
annotated property: definition
annotated source: tyrosinemia type III
annotated target: A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

glycogen metabolism disorder
type: Class
subclass of: carbohydrate metabolic disorder
definition: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
creation_date: 2012-07-13T10:42:54Z
has_obo_namespace: disease_ontology
id: DOID:0050728

carbohydrate metabolic disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
has_alternative_id: DOID:9434
database_cross_reference: ICD10CM:E74.9
database_cross_reference: MESH:D002239
database_cross_reference: NCI:C97089
database_cross_reference: ORDO:79161
database_cross_reference: SNOMEDCT_US_2025_09_01:20957000
database_cross_reference: UMLS_CUI:C0007001
database_cross_reference: UMLS_CUI:C0149670
has_exact_synonym: disorder of carbohydrate transport and metabolism
has_exact_synonym: inborn carbohydrate metabolism disorder
has_exact_synonym: inborn errors of carbohydrate metabolism
has_obo_namespace: disease_ontology
id: DOID:2978
in_subset: DO_CFDE_slim
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism
annotated property: definition
annotated source: glycogen metabolism disorder
annotated target: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.

Chanarin-Dorfman syndrome
type: Class
subclass of: lipid storage disease
definition: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
creation_date: 2012-07-17T12:31:48Z
database_cross_reference: GARD:3979
database_cross_reference: MIM:275630
database_cross_reference: ORDO:98907
has_exact_synonym: neutral lipid storage disease
has_obo_namespace: disease_ontology
id: DOID:0050729
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome
annotated property: definition
annotated source: Chanarin-Dorfman syndrome
annotated target: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.

coenzyme Q10 deficiency disease
type: Class
subclass of: mitochondrial metabolism disease
definition: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
creation_date: 2012-07-17T12:58:37Z
database_cross_reference: GARD:10423
database_cross_reference: MIM:PS607426
has_exact_synonym: COENZYME Q10 DEFICIENCY, PRIMARY
has_obo_namespace: disease_ontology
id: DOID:0050730
in_subset: DO_rare_slim

mitochondrial metabolism disease
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
database_cross_reference: GARD:7048
database_cross_reference: MESH:D028361
database_cross_reference: SNOMEDCT_US_2025_09_01:240096000
database_cross_reference: UMLS_CUI:C0751651
has_exact_synonym: mitochondrial cytopathy
has_obo_namespace: disease_ontology
id: DOID:700
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: genetic disease
  intersection of: Restriction
    on property: RO_0002200
    some values from: HP_0003287

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity
annotated property: definition
annotated source: coenzyme Q10 deficiency disease
annotated target: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.

vitamin B12 deficiency
type: Class
subclass of: vitamin metabolic disorder
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0040126
definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
creation_date: 2012-07-17T01:01:29Z
database_cross_reference: MESH:D014806
has_exact_synonym: cobalamin deficiency
has_exact_synonym: hypocobalaminemia
has_obo_namespace: disease_ontology
id: DOID:0050731

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/B12_deficiency
annotated property: definition
annotated source: vitamin B12 deficiency
annotated target: A vitamin metabolic disorder that results from low blood levels of vitamin B12.

methylmalonic aciduria and homocystinuria type cblE
type: Class
subclass of: methylmalonic acidemia
definition: 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.
creation_date: 2012-07-17T01:42:35Z
has_obo_namespace: disease_ontology
id: DOID:0050732

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb
database_cross_reference: url:https://www.omim.org/entry/236270
annotated property: definition
annotated source: methylmalonic aciduria and homocystinuria type cblE
annotated target: 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
type: Class
subclass of: methylmalonic acidemia
definition: 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.
creation_date: 2012-07-17T01:42:35Z
has_obo_namespace: disease_ontology
id: DOID:0050733

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf
database_cross_reference: url:https://www.omim.org/entry/250940
annotated property: definition
annotated source: methylmalonic aciduria and homocystinuria type cblG
annotated target: 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
type: Class
subclass of: physical disorder
subclass of: vitamin B12 deficiency
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
creation_date: 2012-07-17T01:52:57Z
database_cross_reference: MIM:261000
has_exact_synonym: hereditary intrinsic factor deficiency
has_obo_namespace: disease_ontology
id: DOID:0050734

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/261000?search=261000&highlight=261000
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14695536
annotated property: definition
annotated source: congenital intrinsic factor deficiency
annotated target: 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.

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
annotated property: definition
annotated source: X-linked monogenic disease
annotated target: A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=autosomaldominant
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm
annotated property: definition
annotated source: autosomal dominant disease
annotated target: 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.

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm
annotated property: definition
annotated source: autosomal recessive disease
annotated target: 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.

Y-linked monogenic disease
type: Class
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in mutations on the Y chromosome.
creation_date: 2012-07-24T12:51:47Z
has_obo_namespace: disease_ontology
id: DOID:0050738
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000941

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked
annotated property: definition
annotated source: Y-linked monogenic disease
annotated target: A monogenic disease that has_material_basis_in mutations on the Y chromosome.

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=autosomaldominant
annotated property: definition
annotated source: autosomal genetic disease
annotated target: A monogenic disease that has_material_basis_in a mutation on one of the non-sex chromosomes.

Qazi Markouizos syndrome
type: Class
subclass of: syndrome
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0001252
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0005832
definition: A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
creation_date: 2012-08-10T01:08:47Z
database_cross_reference: GARD:371
database_cross_reference: MESH:C536259
database_cross_reference: MIM:600096
has_exact_synonym: Dysharmonic skeletal maturation - muscular fibre disproportion
has_exact_synonym: Qazi-Markouizos syndrome
has_obo_namespace: disease_ontology
id: DOID:0050740
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/600096
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010
annotated property: definition
annotated source: Qazi Markouizos syndrome
annotated target: A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.

alcohol dependence
type: Class
subclass of: substance dependence
definition: 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.
creation_date: 2012-09-05T11:48:42Z
database_cross_reference: KEGG:05034
database_cross_reference: MIM:103780
database_cross_reference: SNOMEDCT_US_2021_09_01:66590003
has_exact_synonym: alcoholism
has_obo_namespace: disease_ontology
id: DOID:0050741
in_subset: DO_FlyBase_slim

substance dependence
type: Class
subclass of: substance-related disorder
definition: A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
database_cross_reference: NCI:C35458
database_cross_reference: SNOMEDCT_US_2025_09_01:255338002
database_cross_reference: UMLS_CUI:C0439857
has_obo_namespace: disease_ontology
id: DOID:9973
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Alcohol_dependence
annotated property: definition
annotated source: alcohol dependence
annotated target: 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.

nicotine dependence
type: Class
subclass of: substance dependence
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_188890
definition: A substance dependence that is characterized by a physical dependence on nicotine.
creation_date: 2012-09-05T11:48:42Z
database_cross_reference: EFO:0003768
database_cross_reference: ICD10CM:F17
database_cross_reference: MESH:D014029
database_cross_reference: NCI:C54203
database_cross_reference: SNOMEDCT_US_2025_09_01:56294008
database_cross_reference: UMLS_CUI:C0028043
has_exact_synonym: tobacco use disorder
has_obo_namespace: disease_ontology
id: DOID:0050742
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Nicotine_dependence
annotated property: definition
annotated source: nicotine dependence
annotated target: A substance dependence that is characterized by a physical dependence on nicotine.

mature T-cell and NK-cell lymphoma
type: Class
subclass of: T-cell non-Hodgkin lymphoma
definition: A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
creation_date: 2012-09-18T01:56:52Z
has_exact_synonym: NK-T cell lymphoma
has_exact_synonym: mature T-cell and natural killer cell lymphoma
has_obo_namespace: disease_ontology
id: DOID:0050743
in_subset: DO_cancer_slim

T-cell non-Hodgkin lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
definition: A non-Hodgkin lymphoma of T-cell lineage.
database_cross_reference: ICDO:9702/3
database_cross_reference: MESH:D016399
database_cross_reference: NCI:C3466
database_cross_reference: SNOMEDCT_US_2025_09_01:3172003
database_cross_reference: UMLS_CUI:C0079772
has_obo_namespace: disease_ontology
id: DOID:0081312
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: lymphoma
  intersection of: Restriction
    on property: has material basis in
    some values from: CL_0000084

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=393800
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=44062
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21919697
annotated property: definition
annotated source: mature T-cell and NK-cell lymphoma
annotated target: A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.

anaplastic large cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
definition: A non-Hodgkin lymphoma involving aberrant T-cells.
creation_date: 2012-09-18T01:57:40Z
database_cross_reference: ICDO:9714/3
database_cross_reference: NCI:C3720
has_obo_namespace: disease_ontology
id: DOID:0050744
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

non-Hodgkin lymphoma
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: lymphoma
definition: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
database_cross_reference: ICD10CM:C85.9
database_cross_reference: ICDO:9591/3
database_cross_reference: MESH:D008228
database_cross_reference: MIM:605027
database_cross_reference: NCI:C3211
database_cross_reference: ORDO:547
database_cross_reference: SNOMEDCT_US_2025_09_01:118601006
database_cross_reference: UMLS_CUI:C0024305
has_obo_namespace: disease_ontology
id: DOID:0060060
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology
annotated property: definition
annotated source: anaplastic large cell lymphoma
annotated target: A non-Hodgkin lymphoma involving aberrant T-cells.

diffuse large B-cell lymphoma
type: Class
subclass of: large B-cell lymphoma
definition: A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.
creation_date: 2012-09-18T01:58:25Z
database_cross_reference: GARD:3178
database_cross_reference: ICD11:2A81.Z
database_cross_reference: ICDO:9680/3
database_cross_reference: MESH:D016403
database_cross_reference: NCI:C80280
has_exact_synonym: DLBCL
has_obo_namespace: disease_ontology
id: DOID:0050745
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

large B-cell lymphoma
type: Class
subclass of: B-cell lymphoma
definition: A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.
has_obo_namespace: disease_ontology
id: DOID:0081452

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma
database_cross_reference: url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28487884
annotated property: definition
annotated source: diffuse large B-cell lymphoma
annotated target: A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: diffuse large B-cell lymphoma
annotated target: DLBCL

mantle cell lymphoma
type: Class
subclass of: B-cell lymphoma
definition: 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.
creation_date: 2012-09-18T02:00:45Z
database_cross_reference: GARD:6969
database_cross_reference: ICDO:9673/3
database_cross_reference: MESH:D020522
has_obo_namespace: disease_ontology
id: DOID:0050746
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

B-cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
definition: A non-Hodgkin lymphoma that has_material_basis_in B cells.
database_cross_reference: GARD:5877
database_cross_reference: MESH:D016393
database_cross_reference: NCI:C3457
database_cross_reference: SNOMEDCT_US_2025_09_01:109979007
database_cross_reference: UMLS_CUI:C0079731
has_exact_synonym: B-cell lymphocytic neoplasm
has_obo_namespace: disease_ontology
id: DOID:707
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: lymphoma
  intersection of: Restriction
    on property: has material basis in
    some values from: CL_0000236

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma
annotated property: definition
annotated source: mantle cell lymphoma
annotated target: 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.

obsolete lymphoplasmacytic lymphoma
type: Class
comment: Xref MGI.
definition: A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
creation_date: 2012-09-18T02:00:45Z
has_obo_namespace: disease_ontology
id: DOID:0050747
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma
annotated property: definition
annotated source: obsolete lymphoplasmacytic lymphoma
annotated target: A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.

marginal zone lymphoma
type: Class
subclass of: B-cell lymphoma
definition: 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.
creation_date: 2012-09-18T02:00:45Z
database_cross_reference: ICDO:9699/3
database_cross_reference: MESH:D018442
has_exact_synonym: marginal zone B-cell lymphoma
has_obo_namespace: disease_ontology
id: DOID:0050748
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=562554
annotated property: definition
annotated source: marginal zone lymphoma
annotated target: 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.

peripheral T-cell lymphoma
type: Class
subclass of: mature T-cell and NK-cell lymphoma
definition: A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
creation_date: 2012-09-18T02:01:49Z
database_cross_reference: GARD:7368
has_obo_namespace: disease_ontology
id: DOID:0050749
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma
annotated property: definition
annotated source: peripheral T-cell lymphoma
annotated target: 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
type: Class
subclass of: marginal zone lymphoma
subclass of: bone marrow cancer
subclass of: spleen cancer
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002106
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002371
definition: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
creation_date: 2012-09-18T02:03:06Z
database_cross_reference: NCI:C4663
has_obo_namespace: disease_ontology
id: DOID:0050750
in_subset: NCIthesaurus

bone marrow cancer
type: Class
subclass of: hematologic cancer
subclass of: DOID 4961
definition: A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
has_alternative_id: DOID:2356
has_alternative_id: DOID:2761
database_cross_reference: ICD10CM:D47.1
database_cross_reference: EFO:0004251
database_cross_reference: MESH:D009196
database_cross_reference: SNOMEDCT_US_2025_09_01:128925001
database_cross_reference: UMLS_CUI:C0027022
has_exact_synonym: bone Marrow tumor
has_exact_synonym: bone marrow neoplasm
has_exact_synonym: malignant bone Marrow tumor
has_exact_synonym: malignant neoplasm of bone marrow
has_obo_namespace: disease_ontology
id: DOID:4960
in_subset: DO_cancer_slim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002371

spleen cancer
type: Class
subclass of: lymphatic system cancer
subclass of: DOID 2529
definition: A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
has_alternative_id: DOID:671
database_cross_reference: GARD:7683
database_cross_reference: ICD10CM:C26.1
database_cross_reference: MESH:D013160
database_cross_reference: NCI:C3383
database_cross_reference: NCI:C3539
database_cross_reference: SNOMEDCT_US_2025_09_01:127230005
database_cross_reference: SNOMEDCT_US_2025_09_01:94071006
database_cross_reference: UMLS_CUI:C0037999
database_cross_reference: UMLS_CUI:C0153470
has_exact_synonym: Splenic neoplasm
has_exact_synonym: malignant Splenic tumor
has_exact_synonym: malignant tumour of spleen
has_exact_synonym: spleen neoplasm
has_obo_namespace: disease_ontology
id: DOID:672
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002106

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma
annotated property: definition
annotated source: splenic marginal zone lymphoma
annotated target: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.

T-cell large granular lymphocyte leukemia
type: Class
subclass of: T-cell acute lymphoblastic leukemia
definition: 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.
creation_date: 2012-09-18T02:05:41Z
database_cross_reference: ICDO:9831/3
database_cross_reference: NCI:C4664
has_exact_synonym: Large granular lymphocytic leukaemia
has_exact_synonym: Large granular lymphocytic leukemia
has_exact_synonym: T-cell large granular lymphocyte leukaemia
has_obo_namespace: disease_ontology
id: DOID:0050751
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia
annotated property: definition
annotated source: T-cell large granular lymphocyte leukemia
annotated target: 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.

amyotrophic lateral sclerosis type 8
type: Class
subclass of: amyotrophic lateral sclerosis
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
database_cross_reference: GARD:10499
database_cross_reference: MIM:608627
has_exact_synonym: ALS8
has_exact_synonym: amyotrophic lateral sclerosis 8
has_obo_namespace: disease_ontology
id: DOID:0050752
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

amyotrophic lateral sclerosis
type: Class
subclass of: DOID 231
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_617892
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_617921
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002257
definition: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
database_cross_reference: MESH:D000690
database_cross_reference: GARD:5786
database_cross_reference: ICD10CM:G12.21
database_cross_reference: ICD9CM:335.20
database_cross_reference: KEGG:05014
database_cross_reference: MIM:PS105400
database_cross_reference: NCI:C34373
database_cross_reference: ORDO:803
database_cross_reference: SNOMEDCT_US_2025_09_01:86044005
database_cross_reference: UMLS_CUI:C0002736
has_exact_synonym: ALS
has_exact_synonym: Lou Gehrig's disease
has_exact_synonym: motor neuron disease, bulbar
has_obo_namespace: disease_ontology
id: DOID:332
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
database_cross_reference: url:http://omim.org/entry/608627
annotated property: definition
annotated source: amyotrophic lateral sclerosis type 8
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: amyotrophic lateral sclerosis type 8
annotated target: ALS8

cerebellar ataxia
type: Class
subclass of: cerebellar disease
subclass of: hereditary ataxia
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002037
definition: A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
creation_date: 2013-01-16T01:07:02Z
database_cross_reference: MESH:D002524
has_obo_namespace: disease_ontology
id: DOID:0050753

hereditary ataxia
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
creation_date: 2015-10-05T14:38:17Z
database_cross_reference: GARD:6614
has_obo_namespace: disease_ontology
id: DOID:0050951
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebellar_ataxia
annotated property: definition
annotated source: cerebellar ataxia
annotated target: A hereditary ataxia that is characterized by ataxia originating in the cerebellum.

early-onset ataxia with oculomotor apraxia and hypoalbuminemia
type: Class
subclass of: autosomal recessive cerebellar ataxia
definition: 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.
creation_date: 2013-01-16T01:07:02Z
database_cross_reference: GARD:9283
database_cross_reference: MIM:208920
has_exact_synonym: ataxia with oculomotor apraxia type 1
has_obo_namespace: disease_ontology
id: DOID:0050754
in_subset: DO_rare_slim

autosomal recessive cerebellar ataxia
type: Class
subclass of: autosomal recessive disease
subclass of: cerebellar ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.
creation_date: 2015-10-05T14:21:08Z
database_cross_reference: MIM:PS213200
database_cross_reference: ORDO:1172
has_obo_namespace: disease_ontology
id: DOID:0050950
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1
annotated property: definition
annotated source: early-onset ataxia with oculomotor apraxia and hypoalbuminemia
annotated target: 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.

spinocerebellar ataxia with axonal neuropathy 2
type: Class
subclass of: autosomal recessive cerebellar ataxia
definition: 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.
creation_date: 2013-01-16T01:07:02Z
database_cross_reference: GARD:12860
database_cross_reference: MIM:606002
database_cross_reference: ORDO:64753
has_exact_synonym: AOA2
has_exact_synonym: SCAN2
has_exact_synonym: SCAR1
has_exact_synonym: ataxia with oculomotor apraxia type 2
has_exact_synonym: autosomal recessive spinocerebellar ataxia 1
has_exact_synonym: autosomal recessive spinocerebellar ataxia with axonal neuropathy 2
has_exact_synonym: spinocerebellar ataxia with axonal neuropathy type 2
has_obo_namespace: disease_ontology
id: DOID:0050755
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19696032/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/23786967/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1154/
annotated property: definition
annotated source: spinocerebellar ataxia with axonal neuropathy 2
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: spinocerebellar ataxia with axonal neuropathy 2
annotated target: AOA2

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: spinocerebellar ataxia with axonal neuropathy 2
annotated target: SCAN2

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: spinocerebellar ataxia with axonal neuropathy 2
annotated target: SCAR1

obsolete CLN3 disease
type: Class
creation_date: 2013-01-16T01:15:03Z
has_obo_namespace: disease_ontology
id: DOID:0050756
owl:deprecated: true

deafness-dystonia-optic neuronopathy syndrome
type: Class
subclass of: mitochondrial metabolism disease
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: 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.
creation_date: 2013-01-16T01:20:50Z
has_alternative_id: DOID:0050867
database_cross_reference: MESH:C535808
database_cross_reference: MIM:304700
database_cross_reference: ORDO:3213
has_exact_synonym: Deafness Dystonia Optic Atrophy Syndrome
has_exact_synonym: Deafness Dystonia Optic Neuronopathy Syndrome
has_exact_synonym: Dystonia Deafness Syndrome
has_exact_synonym: Jensen syndrome
has_exact_synonym: Mohr-Tranebjaerg syndrome
has_exact_synonym: deafness dystonia syndrome
has_obo_namespace: disease_ontology
id: DOID:0050757
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome
database_cross_reference: url:http://omim.org/entry/304700
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1216/
annotated property: definition
annotated source: deafness-dystonia-optic neuronopathy syndrome
annotated target: 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.

metabolic acidosis
type: Class
subclass of: acquired metabolic disease
definition: An acquired metabolic disease that characterized by excessive production of acid.
creation_date: 2013-01-16T01:23:37Z
has_obo_namespace: disease_ontology
id: DOID:0050758

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Metabolic_acidosis
database_cross_reference: url:https://medlineplus.gov/ency/article/000335.htm
annotated property: definition
annotated source: metabolic acidosis
annotated target: An acquired metabolic disease that characterized by excessive production of acid.

myotonic dystrophy type 2
type: Class
subclass of: myotonic disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: 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.
creation_date: 2013-01-16T01:27:31Z
database_cross_reference: GARD:9728
database_cross_reference: ICD10CM:G71.1
database_cross_reference: ICD9CM:359.2
database_cross_reference: MESH:D020967
database_cross_reference: MIM:602668
database_cross_reference: NCI:C84913
database_cross_reference: ORDO:606
database_cross_reference: SNOMEDCT_US_2025_09_01:155096007
database_cross_reference: UMLS_CUI:C0553604
has_obo_namespace: disease_ontology
id: DOID:0050759
in_subset: DO_rare_slim
in_subset: NCIthesaurus

myotonic disease
type: Class
subclass of: muscular dystrophy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
database_cross_reference: ICD10CM:G71.1
database_cross_reference: ICD9CM:359.2
database_cross_reference: MESH:D020967
database_cross_reference: NCI:C84913
database_cross_reference: SNOMEDCT_US_2025_09_01:155096007
database_cross_reference: UMLS_CUI:C0553604
has_obo_namespace: disease_ontology
id: DOID:450
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007646
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1466/
annotated property: definition
annotated source: myotonic dystrophy type 2
annotated target: 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.

X-linked myopathy with excessive autophagy
type: Class
subclass of: X-linked recessive disease
subclass of: myopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
definition: 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.
creation_date: 2013-01-16T01:29:01Z
database_cross_reference: GARD:3892
database_cross_reference: MIM:310440
has_exact_synonym: XMEA
has_obo_namespace: disease_ontology
id: DOID:0050760
in_subset: DO_rare_slim

myopathy
type: Class
subclass of: muscle tissue disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
database_cross_reference: ICD10CM:G72.9
database_cross_reference: ICD9CM:359.9
database_cross_reference: MESH:D009135
database_cross_reference: NCI:C101216
database_cross_reference: SNOMEDCT_US_2025_09_01:155094005
database_cross_reference: UMLS_CUI:C0026848
has_obo_namespace: disease_ontology
id: DOID:423
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/
annotated property: definition
annotated source: X-linked myopathy with excessive autophagy
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: X-linked myopathy with excessive autophagy
annotated target: XMEA

obsolete paramyloidosis
type: Class
creation_date: 2013-01-16T01:30:21Z
has_obo_namespace: disease_ontology
id: DOID:0050761
owl:deprecated: true

adenylosuccinase lyase deficiency
type: Class
subclass of: amino acid metabolic disorder
definition: 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.
creation_date: 2013-01-17T12:42:58Z
database_cross_reference: GARD:550
database_cross_reference: MIM:103050
has_obo_namespace: disease_ontology
id: DOID:0050762
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency
annotated property: definition
annotated source: adenylosuccinase lyase deficiency
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-01-17T12:46:38Z
database_cross_reference: MIM:PS208085
database_cross_reference: ORDO:2697
has_exact_synonym: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
has_exact_synonym: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
has_exact_synonym: Arthrogryposis-renal dysfunction-cholestasis
has_obo_namespace: disease_ontology
id: DOID:0050763
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16896922
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22753090
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24415890
annotated property: definition
annotated source: ARC syndrome
annotated target: 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.

Armfield syndrome
type: Class
subclass of: syndromic X-linked intellectual disability
definition: 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.
creation_date: 2013-01-17T12:48:15Z
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MIM:300261
database_cross_reference: ORDO:85276
has_exact_synonym: Armfield X-linked mental retardation syndrome
has_exact_synonym: MRXSA
has_exact_synonym: X-linked intellectual disability, Armfield type
has_exact_synonym: mental retardation syndrome, X-linked, Armfield type
has_exact_synonym: syndromic X-linked mental retardation Armfield type
has_obo_namespace: disease_ontology
id: DOID:0050764
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10398235
annotated property: definition
annotated source: Armfield syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Armfield syndrome
annotated target: MRXSA

neuroacanthocytosis
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
creation_date: 2013-01-17T12:54:19Z
database_cross_reference: GARD:10902
database_cross_reference: MESH:D054546
database_cross_reference: ORDO:263440
has_obo_namespace: disease_ontology
id: DOID:0050765
in_subset: DO_rare_slim

neurodegenerative disease
type: Class
subclass of: central nervous system disease
definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
has_alternative_id: DOID:4874
database_cross_reference: ICD10CM:G31.9
database_cross_reference: MESH:D019636
database_cross_reference: NCI:C195952
database_cross_reference: NCI:C27090
database_cross_reference: SNOMEDCT_US_2025_09_01:362975008
database_cross_reference: UMLS_CUI:C0524851
database_cross_reference: UMLS_CUI:C1285162
has_exact_synonym: degenerative disease
has_obo_namespace: disease_ontology
id: DOID:1289
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://en.wikipedia.org/wiki/Neuroacanthocytosis
database_cross_reference: url:https://rarediseases.org/rare-diseases/neuroacanthocytosis/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1387/
annotated property: definition
annotated source: neuroacanthocytosis
annotated target: A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.

choreaacanthocytosis
type: Class
subclass of: autosomal recessive disease
subclass of: neuroacanthocytosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-01-17T12:54:19Z
database_cross_reference: MESH:D054546
database_cross_reference: GARD:3956
database_cross_reference: MIM:200150
database_cross_reference: NCI:C84926
database_cross_reference: ORDO:2388
database_cross_reference: SNOMEDCT_US_2025_09_01:66881004
database_cross_reference: UMLS_CUI:C0393576
has_exact_synonym: Levine-Critchley syndrome
has_exact_synonym: choreo-acanthocytosis
has_obo_namespace: disease_ontology
id: DOID:0050766
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:https://en.wikipedia.org/wiki/Chorea_acanthocytosis
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9382101
annotated property: definition
annotated source: choreaacanthocytosis
annotated target: 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.

midface dysplasia
type: Class
subclass of: osteochondrodysplasia
definition: An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.
creation_date: 2013-02-21T11:19:14Z
has_obo_namespace: disease_ontology
id: DOID:0050767

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Frontonasal_dysplasia
annotated property: definition
annotated source: midface dysplasia
annotated target: An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.

mitochondrial complex V (ATP synthase) deficiency nuclear type 1
type: Class
subclass of: mitochondrial complex V (ATP synthase) deficiency
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
creation_date: 2013-02-21T11:26:46Z
database_cross_reference: MIM:604273
has_exact_synonym: MC5DN1
has_obo_namespace: disease_ontology
id: DOID:0050768
in_subset: DO_rare_slim

mitochondrial complex V (ATP synthase) deficiency
type: Class
subclass of: mitochondrial metabolism disease
definition: A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.
database_cross_reference: GARD:1459
database_cross_reference: ORDO:254913
database_cross_reference: SNOMEDCT_US_2025_09_01:780820008
database_cross_reference: UMLS_CUI:C4757950
has_obo_namespace: disease_ontology
id: DOID:0111143
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/604273
annotated property: definition
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 1
annotated target: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 1
annotated target: MC5DN1

N syndrome
type: Class
subclass of: syndrome
definition: A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
creation_date: 2013-02-21T11:32:26Z
database_cross_reference: GARD:3902
database_cross_reference: MESH:C536108
database_cross_reference: MIM:310465
database_cross_reference: ORDO:2608
has_exact_synonym: NSX
has_obo_namespace: disease_ontology
id: DOID:0050769
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3902/n-syndrome
annotated property: definition
annotated source: N syndrome
annotated target: A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: N syndrome
annotated target: NSX

polycystic liver disease
type: Class
subclass of: autosomal dominant disease
subclass of: liver disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A liver disease that is characterized by the presence of multiple cysts located_in the liver.
creation_date: 2013-02-21T11:36:13Z
has_alternative_id: DOID:1173
database_cross_reference: GARD:9457
database_cross_reference: MESH:C536330
has_exact_synonym: congenital cystic liver disease
has_exact_synonym: congenital hepatic cyst
has_exact_synonym: fibrocystic liver disease
has_obo_namespace: disease_ontology
id: DOID:0050770
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/polycystic-liver-disease/
annotated property: definition
annotated source: polycystic liver disease
annotated target: A liver disease that is characterized by the presence of multiple cysts located_in the liver.

pheochromocytoma
type: Class
subclass of: endocrine organ benign neoplasm
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020064
definition: 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.
creation_date: 2013-02-21T11:40:58Z
database_cross_reference: GARD:7385
database_cross_reference: ICDO:8700/0
database_cross_reference: MESH:D010673
database_cross_reference: MIM:171300
has_exact_synonym: phaeochromocytoma
has_obo_namespace: disease_ontology
id: DOID:0050771
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

endocrine organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
definition: 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.
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060089
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002368

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:https://en.wikipedia.org/wiki/Pheochromocytoma
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma
database_cross_reference: url:https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367
database_cross_reference: url:https://www.omim.org/entry/171300
annotated property: definition
annotated source: pheochromocytoma
annotated target: 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.

spastic ataxia 1
type: Class
subclass of: autosomal dominant disease
subclass of: spastic ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
creation_date: 2015-09-17T14:42:06Z
database_cross_reference: MIM:108600
has_obo_namespace: disease_ontology
id: DOID:0050772

spastic ataxia
type: Class
subclass of: hereditary ataxia
definition: A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
creation_date: 2015-10-05T14:39:34Z
database_cross_reference: MESH:C564815
has_obo_namespace: disease_ontology
id: DOID:0050952

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type
annotated property: definition
annotated source: spastic ataxia 1
annotated target: 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.

paraganglioma
type: Class
comment: Xref MGI.
subclass of: autosomal dominant disease
subclass of: pheochromocytoma
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
creation_date: 2013-02-21T11:51:57Z
database_cross_reference: ICDO:8680/3
database_cross_reference: MESH:D010235
database_cross_reference: MIM:PS168000
database_cross_reference: NCI:C3308
database_cross_reference: SNOMEDCT_US_2025_09_01:302833002
database_cross_reference: UMLS_CUI:C0030421
has_exact_synonym: chemodectoma
has_exact_synonym: glomus body tumor
has_obo_namespace: disease_ontology
id: DOID:0050773
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:https://en.wikipedia.org/wiki/Paraganglioma
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma
annotated property: definition
annotated source: paraganglioma
annotated target: A pheochromocytoma that arises in extraadrenal sympathetic ganglia.

rapadilino syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: 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.
creation_date: 2013-02-21T11:56:15Z
database_cross_reference: GARD:4637
database_cross_reference: MESH:C535288
database_cross_reference: MIM:266280
database_cross_reference: ORDO:3021
database_cross_reference: SNOMEDCT_US_2025_09_01:702413000
database_cross_reference: UMLS_CUI:C1849453
has_obo_namespace: disease_ontology
id: DOID:0050774
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome
annotated property: definition
annotated source: rapadilino syndrome
annotated target: 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
type: Class
subclass of: osteochondrodysplasia
definition: 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.
creation_date: 2013-02-21T12:00:39Z
database_cross_reference: GARD:169
database_cross_reference: MESH:C536637
database_cross_reference: MIM:269250
has_obo_namespace: disease_ontology
id: DOID:0050775
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia
annotated property: definition
annotated source: schneckenbecken dysplasia
annotated target: 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
type: Class
comment: Xref MGI.
subclass of: X-linked monogenic disease
subclass of: non-syndromic intellectual disability
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
creation_date: 2013-02-21T12:06:40Z
database_cross_reference: MIM:300716
database_cross_reference: ORDO:777
has_exact_synonym: non-specific X-linked mental retardation
has_obo_namespace: disease_ontology
id: DOID:0050776
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

non-syndromic intellectual disability
type: Class
subclass of: intellectual disability
definition: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
creation_date: 2014-08-14T10:57:36Z
has_obo_namespace: disease_ontology
id: DOID:0050889

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7011032
annotated property: definition
annotated source: non-syndromic X-linked intellectual disability
annotated target: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.

Joubert syndrome
type: Class
comment: Xref MGI.
subclass of: brain disease
subclass of: ciliopathy
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000955
definition: 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.
creation_date: 2013-04-04T11:25:32Z
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: GARD:6802
database_cross_reference: MIM:PS213300
database_cross_reference: ORDO:475
has_exact_synonym: JBTS
has_obo_namespace: disease_ontology
id: DOID:0050777
in_subset: DO_rare_slim

ciliopathy
type: Class
subclass of: monogenic disease
subclass of: syndrome
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
creation_date: 2015-05-21T10:41:29Z
has_obo_namespace: disease_ontology
id: DOID:0060340

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Joubert_syndrome
database_cross_reference: url:http://omim.org/entry/213300?search=joubert&highlight=joubert
annotated property: definition
annotated source: Joubert syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Joubert syndrome
annotated target: JBTS

Meckel syndrome
type: Class
subclass of: ciliopathy
definition: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
creation_date: 2013-04-04T11:28:16Z
database_cross_reference: GARD:3436
database_cross_reference: ICD10CM:Q61.9
database_cross_reference: ICD9CM:753.1
database_cross_reference: MIM:PS249000
database_cross_reference: NCI:C98978
database_cross_reference: ORDO:564
database_cross_reference: SNOMEDCT_US_2025_09_01:29076005
database_cross_reference: UMLS_CUI:C0265215
has_exact_synonym: Meckel-Gruber syndrome
has_obo_namespace: disease_ontology
id: DOID:0050778
in_subset: DO_rare_slim
in_subset: NCIthesaurus
has broader match: ICD10CM:Q61.9
has broader match: ICD9CM:753.1

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Meckel_syndrome
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract
annotated property: definition
annotated source: Meckel syndrome
annotated target: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

hydrolethalus syndrome
type: Class
comment: Xref MGI.
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-06-24T12:50:06Z
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: GARD:6683
database_cross_reference: MESH:C536079
database_cross_reference: MIM:PS236680
database_cross_reference: ORDO:2189
has_exact_synonym: Salonen-Herva-Norio syndrome
has_obo_namespace: disease_ontology
id: DOID:0050779
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15843405
annotated property: definition
annotated source: hydrolethalus syndrome
annotated target: 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.

obsolete Opitz-GBBB syndrome
type: Class
definition: A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.
creation_date: 2013-06-24T01:18:03Z
has_obo_namespace: disease_ontology
id: DOID:0050780
owl:deprecated: true

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007646
database_cross_reference: url:http://www.genome.jp/dbget-bin/www_bget?ds:H00583
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1327/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1523/
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome
annotated property: definition
annotated source: obsolete Opitz-GBBB syndrome
annotated target: A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.

Ogden syndrome
type: Class
subclass of: syndrome
subclass of: X-linked monogenic disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: 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.
creation_date: 2013-07-17T10:18:00Z
database_cross_reference: MIM:300855
database_cross_reference: ORDO:276432
has_exact_synonym: N-alpha-acetyltransferase
has_exact_synonym: N-terminal acetyltransferase deficiency
has_exact_synonym: OGDNS
has_exact_synonym: X-linked Malformation and Infantile Lethality Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050781
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Ogden_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21700266
annotated property: definition
annotated source: Ogden syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Ogden syndrome
annotated target: OGDNS

Zollinger-Ellison syndrome
type: Class
subclass of: syndrome
definition: 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.
creation_date: 2013-10-23T12:51:49Z
database_cross_reference: GARD:7918
database_cross_reference: ICD10CM:E16.4
database_cross_reference: MESH:D015043
database_cross_reference: NCI:C3453
database_cross_reference: SNOMEDCT_US_2025_09_01:267477002
database_cross_reference: UMLS_CUI:C0043515
has_obo_namespace: disease_ontology
id: DOID:0050782
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28949124
database_cross_reference: url:https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome
annotated property: definition
annotated source: Zollinger-Ellison syndrome
annotated target: 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
type: Class
subclass of: multiple sclerosis
definition: 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.
creation_date: 2013-11-07T11:22:49Z
database_cross_reference: ICD10CM:G35.C
database_cross_reference: MESH:D020528
database_cross_reference: SNOMEDCT_US_2025_09_01:425500002
database_cross_reference: UMLS_CUI:C0751965
has_exact_synonym: SPMS
has_exact_synonym: Secondary-progressive MS
has_obo_namespace: disease_ontology
id: DOID:0050783
has narrower match: MESH:D020528

multiple sclerosis
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: autoimmune disease of central nervous system
subclass of: DOID 3213
subclass of: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_126200
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_614810
definition: 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.
database_cross_reference: GARD:10255
database_cross_reference: ICD10CM:G35
database_cross_reference: ICD9CM:340
database_cross_reference: MESH:D009103
database_cross_reference: MIM:612594
database_cross_reference: MIM:612595
database_cross_reference: MIM:612596
database_cross_reference: NCI:C3243
database_cross_reference: SNOMEDCT_US_2025_09_01:155023009
database_cross_reference: UMLS_CUI:C0026769
has_exact_synonym: Generalized multiple sclerosis
has_exact_synonym: insular sclerosis
has_obo_namespace: disease_ontology
id: DOID:2377
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mayoclinic.org/multiple-sclerosis/types.html
database_cross_reference: url:http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms
annotated property: definition
annotated source: secondary progressive multiple sclerosis
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: secondary progressive multiple sclerosis
annotated target: SPMS

primary progressive multiple sclerosis
type: Class
subclass of: multiple sclerosis
definition: 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.
creation_date: 2013-11-07T11:26:58Z
database_cross_reference: MESH:D020528
database_cross_reference: ICD10CM:G35.B
database_cross_reference: SNOMEDCT_US_2025_09_01:428700003
database_cross_reference: UMLS_CUI:C0751964
has_exact_synonym: PPMS
has_exact_synonym: Primary-progressive MS
has_obo_namespace: disease_ontology
id: DOID:0050784
has narrower match: MESH:D020528

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.mayoclinic.org/multiple-sclerosis/types.html
database_cross_reference: url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx
annotated property: definition
annotated source: primary progressive multiple sclerosis
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: primary progressive multiple sclerosis
annotated target: PPMS

progressive relapsing multiple sclerosis
type: Class
subclass of: multiple sclerosis
definition: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
creation_date: 2013-11-07T11:32:37Z
database_cross_reference: MESH:D020528
database_cross_reference: SNOMEDCT_US_2025_09_01:724778008
database_cross_reference: UMLS_CUI:C0393666
has_exact_synonym: PRMS
has_exact_synonym: Progressive-relapsing MS
has_obo_namespace: disease_ontology
id: DOID:0050785
has narrower match: MESH:D020528

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35400704/
annotated property: definition
annotated source: progressive relapsing multiple sclerosis
annotated target: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: progressive relapsing multiple sclerosis
annotated target: PRMS

obsolete iridogoniodysgenesis syndrome
type: Class
comment: Xref MGI. claudiasbj: reason for this disease being obsolete detailed on: https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1566
definition: 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.
term replaced by: anterior segment dysgenesis
creation_date: 2013-11-12T10:28:51Z
database_cross_reference: GARD:3026
database_cross_reference: ORDO:98634
has_exact_synonym: IGDS
has_exact_synonym: IRID 1
has_exact_synonym: IRID 2
has_exact_synonym: iridogoniodysgenesis type 1
has_exact_synonym: iridogoniodysgenesis type 2
has_obo_namespace: disease_ontology
id: DOID:0050786
in_subset: DO_rare_slim
owl:deprecated: true

anterior segment dysgenesis
type: Class
subclass of: monogenic disease
subclass of: eye disease
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: 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.
has_alternative_id: DOID:0050786
has_alternative_id: DOID:0060605
database_cross_reference: GARD:10025
database_cross_reference: ICD10CM:Q13.8
database_cross_reference: MIM:PS107250
database_cross_reference: ORDO:88632
has_exact_synonym: anterior segment developmental anomaly
has_exact_synonym: corneal opacification and other ocular anomalies
has_exact_synonym: iridogoniodysgenesis syndrome
has_exact_synonym: sclerocornea with other ocular anomalies
has_obo_namespace: disease_ontology
id: DOID:0060648
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19175065
annotated property: definition
annotated source: obsolete iridogoniodysgenesis syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: obsolete iridogoniodysgenesis syndrome
annotated target: IGDS

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: obsolete iridogoniodysgenesis syndrome
annotated target: IRID 1

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: obsolete iridogoniodysgenesis syndrome
annotated target: IRID 2

juvenile polyposis syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: gastrointestinal system disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011462
definition: 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.
creation_date: 2013-11-12T11:25:28Z
database_cross_reference: GARD:3065
database_cross_reference: MESH:C537702
database_cross_reference: MIM:174900
has_obo_namespace: disease_ontology
id: DOID:0050787
in_subset: DO_FlyBase_slim
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome
database_cross_reference: url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1469/
annotated property: definition
annotated source: juvenile polyposis syndrome
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: bone disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001474
definition: A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
creation_date: 2013-11-12T11:43:22Z
database_cross_reference: GARD:8182
database_cross_reference: KEGG:H00484
database_cross_reference: MIM:PS185800
database_cross_reference: ORDO:3250
has_exact_synonym: Cushing's symphalangism
has_obo_namespace: disease_ontology
id: DOID:0050788
in_subset: DO_rare_slim

bone disease
type: Class
subclass of: connective tissue disease
definition: A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
has_alternative_id: DOID:1290
database_cross_reference: ICD10CM:M89.9
database_cross_reference: MESH:D001847
database_cross_reference: NCI:C214795
database_cross_reference: SNOMEDCT_US_2025_09_01:76069003
database_cross_reference: UMLS_CUI:C0005940
has_obo_namespace: disease_ontology
has_related_synonym: skeletal disease
id: DOID:0080001
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001474

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1
annotated property: definition
annotated source: proximal symphalangism
annotated target: A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

tarsal-carpal coalition syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: dysostosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
creation_date: 2013-11-12T11:50:00Z
database_cross_reference: GARD:9225
database_cross_reference: MIM:186570
database_cross_reference: ORDO:1412
has_obo_namespace: disease_ontology
id: DOID:0050789
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22326510
annotated property: definition
annotated source: tarsal-carpal coalition syndrome
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: acromesomelic dysplasia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001474
definition: An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.
creation_date: 2013-11-12T12:21:56Z
database_cross_reference: KEGG:H00467
database_cross_reference: MESH:C537931
database_cross_reference: MIM:228900
database_cross_reference: ORDO:2639
has_exact_synonym: Du Pan syndrome
has_exact_synonym: acromesomelic dysplasia-2B
has_obo_namespace: disease_ontology
id: DOID:0050790
in_subset: DO_rare_slim

acromesomelic dysplasia
type: Class
subclass of: osteochondrodysplasia
definition: An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism.
database_cross_reference: GARD:6
database_cross_reference: MESH:C535658
database_cross_reference: ORDO:93437
has_obo_namespace: disease_ontology
id: DOID:0080049
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16222676
annotated property: definition
annotated source: fibular hypoplasia and complex brachydactyly
annotated target: An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.

persistent Mullerian duct syndrome
type: Class
subclass of: reproductive system disease
subclass of: pseudohermaphroditism
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000990
definition: 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.
creation_date: 2013-11-12T12:26:49Z
database_cross_reference: GARD:8435
database_cross_reference: MESH:C536665
database_cross_reference: MIM:261550
database_cross_reference: NCI:C120188
database_cross_reference: SNOMEDCT_US_2025_09_01:702358005
database_cross_reference: UMLS_CUI:C1849930
has_exact_synonym: persistent Muellerian duct syndrome
has_obo_namespace: disease_ontology
id: DOID:0050791
in_subset: DO_rare_slim
in_subset: NCIthesaurus

pseudohermaphroditism
type: Class
subclass of: DOID 1923
has_alternative_id: DOID:11226
database_cross_reference: MESH:D012734
database_cross_reference: ICD10CM:Q56
database_cross_reference: ICD10CM:Q56.3
database_cross_reference: ICD9CM:752.7
database_cross_reference: NCI:C124575
database_cross_reference: SNOMEDCT_US_2025_09_01:204895009
database_cross_reference: SNOMEDCT_US_2025_09_01:268328009
database_cross_reference: UMLS_CUI:C0021193
database_cross_reference: UMLS_CUI:C0033804
has_exact_synonym: Indeterminate sex and pseudohermaphroditism
has_obo_namespace: disease_ontology
id: DOID:3765
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome
database_cross_reference: url:http://omim.org/entry/261550?search=261550&highlight=261550
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20352001
annotated property: definition
annotated source: persistent Mullerian duct syndrome
annotated target: 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.

multiple cutaneous and mucosal venous malformations
type: Class
subclass of: skin disease
subclass of: autosomal dominant disease
subclass of: vein disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000014
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001638
definition: 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.
creation_date: 2013-11-12T12:38:33Z
database_cross_reference: MESH:C563977
database_cross_reference: MIM:600195
database_cross_reference: ORDO:2451
database_cross_reference: SNOMEDCT_US_2025_09_01:699301008
database_cross_reference: UMLS_CUI:C1838437
has_exact_synonym: VMCM
has_exact_synonym: cutaneomucosal venous malformation
has_exact_synonym: mucocutaneous venous malformations
has_obo_namespace: disease_ontology
id: DOID:0050792
in_subset: DO_rare_slim

vein disease
type: Class
subclass of: vascular disease
definition: A vascular disease that is located_in a vein.
database_cross_reference: ICD10CM:I82
database_cross_reference: ICD9CM:453
database_cross_reference: SNOMEDCT_US_2025_09_01:195435006
database_cross_reference: UMLS_CUI:C0155774
has_obo_namespace: disease_ontology
id: DOID:866
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001638

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://omim.org/entry/600195?search=600195&highlight=600195
database_cross_reference: url:https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20301733
annotated property: definition
annotated source: multiple cutaneous and mucosal venous malformations
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: multiple cutaneous and mucosal venous malformations
annotated target: VMCM

short QT syndrome
type: Class
subclass of: heart conduction disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000287
definition: 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.
creation_date: 2013-11-12T12:59:42Z
database_cross_reference: MIM:609620
database_cross_reference: MIM:609621
database_cross_reference: MIM:609622
has_obo_namespace: disease_ontology
id: DOID:0050793

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Short_QT_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/short-qt-syndrome
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083
annotated property: definition
annotated source: short QT syndrome
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: dysostosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
creation_date: 2013-11-12T01:08:42Z
database_cross_reference: MIM:PS186500
database_cross_reference: ORDO:3237
has_obo_namespace: disease_ontology
id: DOID:0050794
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/
annotated property: definition
annotated source: multiple synostoses syndrome
annotated target: 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
type: Class
subclass of: retinal disease
definition: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
creation_date: 2013-11-12T01:19:22Z
database_cross_reference: GARD:11897
database_cross_reference: MESH:D000077765
has_exact_synonym: retinal cone dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050795
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007646
database_cross_reference: url:http://en.wikipedia.org/wiki/Cone_dystrophy
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1418/
annotated property: definition
annotated source: cone dystrophy
annotated target: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

achalasia microcephaly syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0004029
  some values from: intellectual disability
subclass of: Restriction
  on property: RO_0004029
  some values from: microcephaly
subclass of: Restriction
  on property: RO_0004029
  some values from: achalasia
definition: 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).
creation_date: 2013-11-20T03:01:06Z
database_cross_reference: GARD:456
database_cross_reference: MESH:C536010
database_cross_reference: MIM:200450
database_cross_reference: ORDO:929
database_cross_reference: SNOMEDCT_US_2025_09_01:718573009
database_cross_reference: UMLS_CUI:C1860212
has_exact_synonym: ACHALASIA-MICROCEPHALY SYNDROME
has_exact_synonym: Achalasia microcephaly
has_obo_namespace: disease_ontology
id: DOID:0050796
in_subset: DO_rare_slim

microcephaly
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: congenital nervous system abnormality
definition: A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
database_cross_reference: GARD:3603
database_cross_reference: GARD:7038
database_cross_reference: ICD10CM:Q02
database_cross_reference: ICD9CM:742.1
database_cross_reference: MESH:D008831
database_cross_reference: NCI:C85874
database_cross_reference: SNOMEDCT_US_2025_09_01:156893009
database_cross_reference: UMLS_CUI:C0025958
has_exact_synonym: Microcephalus
has_exact_synonym: microencephaly
has_obo_namespace: disease_ontology
id: DOID:10907
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

achalasia
type: Class
subclass of: DOID 6050
definition: 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.
database_cross_reference: MESH:D004931
database_cross_reference: ICD10CM:K22.0
database_cross_reference: ICD9CM:530.0
database_cross_reference: MIM:200400
database_cross_reference: NCI:C84699
database_cross_reference: SNOMEDCT_US_2025_09_01:17460002
database_cross_reference: UMLS_CUI:C0014848
has_exact_synonym: Lack of reflex relaxation of lower oesophageal sphincter
has_exact_synonym: achalasia of cardia
has_exact_synonym: achalasia of esophagus
has_exact_synonym: cardiospasm
has_exact_synonym: esophageal achalasia
has_exact_synonym: hypertensive lower esophageal sphincter
has_obo_namespace: disease_ontology
id: DOID:9164
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Achalasia_microcephaly
annotated property: definition
annotated source: achalasia microcephaly syndrome
annotated target: 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).

peroxisomal acyl-CoA oxidase deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: peroxisomal disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-11-21T10:47:41Z
database_cross_reference: GARD:4543
database_cross_reference: MESH:C536662
database_cross_reference: MIM:264470
database_cross_reference: NCI:C170437
database_cross_reference: ORDO:2971
database_cross_reference: SNOMEDCT_US_2025_09_01:238069004
database_cross_reference: UMLS_CUI:C1849678
has_exact_synonym: Peroxisomal acyl-coenzyme A oxidase
has_obo_namespace: disease_ontology
id: DOID:0050797
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.omim.org/entry/264470
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11815777
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17458872
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18536048
annotated property: definition
annotated source: peroxisomal acyl-CoA oxidase deficiency
annotated target: 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.

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17603797
database_cross_reference: url:https://www.omim.org/entry/300352
annotated property: definition
annotated source: cerebral creatine deficiency syndrome
annotated target: 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.

guanidinoacetate methyltransferase deficiency
type: Class
subclass of: cerebral creatine deficiency syndrome
definition: 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.
creation_date: 2013-11-21T12:10:58Z
database_cross_reference: GARD:2578
database_cross_reference: MESH:C537622
database_cross_reference: MIM:612736
has_exact_synonym: Cerebral creatine deficiency syndrome 2
has_exact_synonym: GAMT deficiency
has_obo_namespace: disease_ontology
id: DOID:0050799
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency
annotated property: definition
annotated source: guanidinoacetate methyltransferase deficiency
annotated target: 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 1
type: Class
subclass of: cerebral creatine deficiency syndrome
definition: 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.
creation_date: 2013-11-21T12:10:58Z
database_cross_reference: MIM:300352
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
has_exact_synonym: SLC6A8 deficiency
has_exact_synonym: creatine transporter deficiency
has_obo_namespace: disease_ontology
id: DOID:0050800

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17603797
database_cross_reference: url:https://www.omim.org/entry/300352
annotated property: definition
annotated source: cerebral creatine deficiency syndrome 1
annotated target: 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.

androgenic alopecia
type: Class
subclass of: alopecia
definition: An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.
creation_date: 2013-11-21T12:48:07Z
database_cross_reference: GARD:9269
database_cross_reference: MIM:109200
database_cross_reference: MIM:300710
database_cross_reference: MIM:612421
has_exact_synonym: alopecia androgenetica, male pattern baldness
has_exact_synonym: androgenetic alopecia
has_obo_namespace: disease_ontology
id: DOID:0050801
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/androgenetic-alopecia
annotated property: definition
annotated source: androgenic alopecia
annotated target: An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.

Ehlers-Danlos syndrome spondylodysplastic type 2
type: Class
subclass of: autosomal recessive disease
subclass of: Ehlers-Danlos syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-12-02T11:55:24Z
database_cross_reference: MIM:615349
database_cross_reference: ORDO:536467
database_cross_reference: SNOMEDCT_US_2023_03_01:720861000
database_cross_reference: SNOMEDCT_US_2025_09_01:1251499005
database_cross_reference: UMLS_CUI:C3809210
has_exact_synonym: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
has_exact_synonym: Ehlers-Danlos syndrome progeroid type
has_obo_namespace: disease_ontology
has_related_synonym: XGPT deficiency
has_related_synonym: defective biosynthesis of proteodermatan sulfate
has_related_synonym: xylosylprotein 4-beta-galactosyltransferase deficiency
id: DOID:0050802
in_subset: DO_rare_slim

Ehlers-Danlos syndrome
type: Class
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].
subclass of: DOID 854
definition: 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.
has_alternative_id: DOID:14696
database_cross_reference: GARD:6322
database_cross_reference: ICD10CM:Q79.6
database_cross_reference: ICD9CM:756.83
database_cross_reference: MESH:D004535
database_cross_reference: MIM:PS130000
database_cross_reference: NCI:C34568
database_cross_reference: SNOMEDCT_US_2025_09_01:268352002
database_cross_reference: UMLS_CUI:C0013720
has_exact_synonym: Cutis hyperelastica
has_exact_synonym: elastic skin
has_obo_namespace: disease_ontology
id: DOID:13359
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007640
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm
annotated property: definition
annotated source: Ehlers-Danlos syndrome spondylodysplastic type 2
annotated target: 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.

glioblastoma classical subtype
type: Class
subclass of: glioblastoma
definition: A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050803

glioblastoma
type: Class
subclass of: DOID 3069
definition: 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.
has_alternative_id: DOID:3075
has_alternative_id: DOID:3080
database_cross_reference: ICDO:9440/3
database_cross_reference: NCI:C39750
database_cross_reference: GARD:2491
database_cross_reference: MESH:D005909
database_cross_reference: NCI:C129295
database_cross_reference: NCI:C9094
database_cross_reference: SNOMEDCT_US_2025_09_01:63634009
database_cross_reference: UMLS_CUI:C0017636
database_cross_reference: UMLS_CUI:C0278878
database_cross_reference: UMLS_CUI:C1514422
has_exact_synonym: GBM
has_exact_synonym: adult glioblastoma multiforme
has_exact_synonym: glioblastoma multiforme
has_exact_synonym: grade IV adult Astrocytic tumor
has_exact_synonym: primary glioblastoma multiforme
has_exact_synonym: spongioblastoma multiforme
has_obo_namespace: disease_ontology
id: DOID:3068
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23029035
annotated property: definition
annotated source: glioblastoma classical subtype
annotated target: A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.

glioblastoma proneural subtype
type: Class
subclass of: glioblastoma
definition: A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050804
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23029035
annotated property: definition
annotated source: glioblastoma proneural subtype
annotated target: A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.

glioblastoma mesenchymal subtype
type: Class
subclass of: glioblastoma
definition: A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050805

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23029035
annotated property: definition
annotated source: glioblastoma mesenchymal subtype
annotated target: A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.

glioblastoma neural subtype
type: Class
subclass of: glioblastoma
definition: 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.
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050806

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20129251
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23029035
annotated property: definition
annotated source: glioblastoma neural subtype
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-12-02T02:28:58Z
database_cross_reference: MESH:C567196
database_cross_reference: MIM:612713
database_cross_reference: ORDO:168972
has_exact_synonym: KHRZ
has_exact_synonym: intellectual disability, Kahrizi type
has_exact_synonym: intellectual disability-cataract-coloboma-kyphosis syndrome
has_obo_namespace: disease_ontology
id: DOID:0050807
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972
annotated property: definition
annotated source: Kahrizi syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Kahrizi syndrome
annotated target: KHRZ

mucopolysaccharidosis IX
type: Class
subclass of: mucopolysaccharidosis
definition: A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
creation_date: 2013-12-02T02:56:58Z
database_cross_reference: MIM:601492
has_obo_namespace: disease_ontology
id: DOID:0050809

mucopolysaccharidosis
type: Class
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
subclass of: lysosomal storage disease
definition: A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
has_alternative_id: DOID:14716
database_cross_reference: GARD:7065
database_cross_reference: ICD10CM:E76.3
database_cross_reference: ICD9CM:277.5
database_cross_reference: MESH:D009083
database_cross_reference: MIM:PS607014
database_cross_reference: NCI:C61259
database_cross_reference: ORDO:79213
database_cross_reference: SNOMEDCT_US_2025_09_01:267452003
database_cross_reference: UMLS_CUI:C0026703
has_obo_namespace: disease_ontology
id: DOID:12798
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII
annotated property: definition
annotated source: mucopolysaccharidosis IX
annotated target: A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.

biotin deficiency
type: Class
subclass of: nutritional deficiency disease
definition: 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.
creation_date: 2013-12-02T03:46:44Z
database_cross_reference: MESH:C531633
has_exact_synonym: B7 deficiency
has_obo_namespace: disease_ontology
id: DOID:0050810

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Biotin_deficiency
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK547751/
annotated property: definition
annotated source: biotin deficiency
annotated target: 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.

congenital adrenal hyperplasia
type: Class
comment: Xref MGI.
subclass of: physical disorder
subclass of: steroid inherited metabolic disorder
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
creation_date: 2013-12-04T12:52:02Z
database_cross_reference: GARD:1465
database_cross_reference: GARD:1467
database_cross_reference: ICD10CM:E25
database_cross_reference: ICD9CM:255.2
database_cross_reference: MIM:201710
database_cross_reference: MIM:201810
database_cross_reference: MIM:201910
database_cross_reference: MIM:202010
database_cross_reference: MIM:202110
database_cross_reference: ORDO:418
database_cross_reference: SNOMEDCT_US_2025_09_01:154706003
database_cross_reference: UMLS_CUI:C0701163
has_exact_synonym: adrenal hyperplasia 1
has_exact_synonym: congenital lipoid adrenal hyperplasia
has_exact_synonym: lipoid CAH
has_obo_namespace: disease_ontology
id: DOID:0050811
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/201710
database_cross_reference: url:http://www.genome.jp/dbget-bin/www_bget?ds:H00216
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0
annotated property: definition
annotated source: congenital adrenal hyperplasia
annotated target: 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.

spondyloepimetaphyseal dysplasia, Pakistani type
type: Class
subclass of: autosomal recessive disease
subclass of: spondyloepimetaphyseal dysplasia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-12-04T01:24:55Z
database_cross_reference: MESH:C567551
database_cross_reference: MIM:612847
has_exact_synonym: spondyloepimetaphyseal dysplasia Pakistani type
has_obo_namespace: disease_ontology
id: DOID:0050812

spondyloepimetaphyseal dysplasia
type: Class
subclass of: osteochondrodysplasia
subclass of: spinal disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001437
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001438
definition: An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
has_obo_namespace: disease_ontology
id: DOID:0080027

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/612847
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282
annotated property: definition
annotated source: spondyloepimetaphyseal dysplasia, Pakistani type
annotated target: 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.

spondyloepiphyseal dysplasia with congenital joint dislocations
type: Class
subclass of: physical disorder
subclass of: spondyloepiphyseal dysplasia
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000982
definition: 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.
creation_date: 2013-12-04T01:30:01Z
database_cross_reference: MIM:143095
has_exact_synonym: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
has_exact_synonym: CHST3-Related Skeletal Dysplasia
has_exact_synonym: Humero-spinal dysostosis with congenital heart disease
has_exact_synonym: Kozlowski Celermajer Tink syndrome
has_exact_synonym: Omani Type
has_exact_synonym: Spondyloepiphyseal Dysplasia
has_exact_synonym: humero-spinal dysostosis
has_exact_synonym: humerospinal dysostosis
has_obo_namespace: disease_ontology
id: DOID:0050813

spondyloepiphyseal dysplasia
type: Class
subclass of: osteochondrodysplasia
definition: An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
database_cross_reference: GARD:7687
has_exact_synonym: SED
has_obo_namespace: disease_ontology
id: DOID:0112280
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.uniprot.org/diseases/DI-01753
annotated property: definition
annotated source: spondyloepiphyseal dysplasia with congenital joint dislocations
annotated target: 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.

temtamy preaxial brachydactyly syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2013-12-05T12:12:10Z
database_cross_reference: GARD:9679
database_cross_reference: MESH:C536958
database_cross_reference: MIM:605282
database_cross_reference: ORDO:363417
database_cross_reference: SNOMEDCT_US_2025_09_01:777998000
database_cross_reference: UMLS_CUI:C1854466
has_exact_synonym: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
has_obo_namespace: disease_ontology
id: DOID:0050814
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417
database_cross_reference: url:http://www.sciencedirect.com/science/article/pii/S1769721213002449
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21129728
annotated property: definition
annotated source: temtamy preaxial brachydactyly syndrome
annotated target: 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.

obsolete eye adnexa disease
type: Class
definition: An eye and adnexa disease that is located_in the adnexa of the eye.
creation_date: 2013-12-05T12:55:42Z
has_obo_namespace: disease_ontology
id: DOID:0050815
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Accessory_visual_structures
annotated property: definition
annotated source: obsolete eye adnexa disease
annotated target: An eye and adnexa disease that is located_in the adnexa of the eye.

urofacial syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
creation_date: 2013-12-05T01:10:52Z
database_cross_reference: GARD:2781
database_cross_reference: MESH:C536480
database_cross_reference: MIM:236730
database_cross_reference: MIM:615112
database_cross_reference: MIM:PS236730
database_cross_reference: ORDO:2704
has_exact_synonym: Ochoa syndrome
has_exact_synonym: hydronephrosis with peculiar facial expression
has_obo_namespace: disease_ontology
id: DOID:0050816
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Urofacial_syndrome
database_cross_reference: url:http://omim.org/entry/236730
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704
annotated property: definition
annotated source: urofacial syndrome
annotated target: A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.

Stargardt disease
type: Class
subclass of: age related macular degeneration
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
creation_date: 2013-12-11T01:49:54Z
database_cross_reference: GARD:181
database_cross_reference: MESH:D000080362
database_cross_reference: MIM:PS248200
has_exact_synonym: STARGARDT DISEASE 1
has_obo_namespace: disease_ontology
id: DOID:0050817
in_subset: DO_rare_slim

age related macular degeneration
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal dominant disease
subclass of: DOID 2007
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: 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.
database_cross_reference: EFO:0001365
database_cross_reference: ICD10CM:H35.30
database_cross_reference: ICD9CM:362.50
database_cross_reference: MESH:D008268
database_cross_reference: MIM:PS603075
database_cross_reference: NCI:C84391
database_cross_reference: SNOMEDCT_US_2025_09_01:18222007
database_cross_reference: UMLS_CUI:C0242383
has_exact_synonym: Age Related Maculopathies
has_exact_synonym: Age Related Maculopathy
has_exact_synonym: Senile macular degeneration
has_exact_synonym: Senile macular retinal degeneration
has_exact_synonym: age-related macular degeneration
has_obo_namespace: disease_ontology
id: DOID:10871
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Stargardt_disease
annotated property: definition
annotated source: Stargardt disease
annotated target: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

transcobalamin II deficiency
type: Class
subclass of: vitamin B12 deficiency
definition: 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.
creation_date: 2013-12-11T02:48:06Z
database_cross_reference: MIM:275350
has_exact_synonym: TCN2 deficiency
has_obo_namespace: disease_ontology
id: DOID:0050818

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/275350
database_cross_reference: url:https://www.orpha.net/data/patho/GB/uk-TCII.pdf
annotated property: definition
annotated source: transcobalamin II deficiency
annotated target: 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.

obsolete Matthew-Wood syndrome
type: Class
definition: A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
creation_date: 2013-12-11T03:11:49Z
has_obo_namespace: disease_ontology
id: DOID:0050819
owl:deprecated: true

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17236193
annotated property: definition
annotated source: obsolete Matthew-Wood syndrome
annotated target: A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.

atrioventricular block
type: Class
subclass of: heart conduction disease
definition: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
creation_date: 2014-02-12T01:35:05Z
database_cross_reference: ICD10CM:I44.3
database_cross_reference: ICD9CM:426.10
database_cross_reference: MESH:D054537
database_cross_reference: NCI:C26703
database_cross_reference: SNOMEDCT_US_2025_09_01:58547007
database_cross_reference: UMLS_CUI:C0004245
has_exact_synonym: AV block
has_obo_namespace: disease_ontology
id: DOID:0050820
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrioventricular_block
annotated property: definition
annotated source: atrioventricular block
annotated target: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.

first-degree atrioventricular block
type: Class
subclass of: atrioventricular block
definition: An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node.
creation_date: 2014-02-12T01:39:42Z
has_obo_namespace: disease_ontology
id: DOID:0050821

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/First-degree_atrioventricular_block
annotated property: definition
annotated source: first-degree atrioventricular block
annotated target: 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
type: Class
subclass of: atrioventricular block
definition: 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.
creation_date: 2014-02-12T01:39:42Z
has_exact_synonym: second-degree heart block
has_obo_namespace: disease_ontology
id: DOID:0050822

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block
annotated property: definition
annotated source: second-degree atrioventricular block
annotated target: 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.

third-degree atrioventricular block
type: Class
subclass of: atrioventricular block
definition: 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.
creation_date: 2014-02-12T01:39:42Z
has_exact_synonym: complete AV block
has_obo_namespace: disease_ontology
id: DOID:0050823

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block
annotated property: definition
annotated source: third-degree atrioventricular block
annotated target: 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.

sinoatrial node disease
type: Class
subclass of: heart conduction disease
subclass of: muscular disease
definition: 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.
creation_date: 2014-02-12T01:47:54Z
has_exact_synonym: SA node
has_exact_synonym: sinuatrial node
has_obo_namespace: disease_ontology
id: DOID:0050824
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002351

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sinoatrial_node
annotated property: definition
annotated source: sinoatrial node disease
annotated target: 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.

endocardium disease
type: Class
subclass of: heart disease
definition: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
creation_date: 2014-02-12T01:53:42Z
has_obo_namespace: disease_ontology
id: DOID:0050825
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002165

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Endocardium
annotated property: definition
annotated source: endocardium disease
annotated target: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.

tricuspid valve disease
type: Class
subclass of: heart valve disease
definition: A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle.
creation_date: 2014-02-12T02:55:24Z
has_alternative_id: DOID:13834
database_cross_reference: ICD10CM:I07
database_cross_reference: ICD9CM:397.0
database_cross_reference: NCI:C197960
database_cross_reference: SNOMEDCT_US_2025_09_01:49699002
database_cross_reference: UMLS_CUI:C0264776
has_exact_synonym: RH. tricuspid valve disease
has_exact_synonym: Rheumatic disease of tricuspid valve
has_exact_synonym: Tricuspid disease
has_exact_synonym: disease of tricuspid valve
has_exact_synonym: rheumatic tricuspid valve disease
has_obo_namespace: disease_ontology
id: DOID:0050826
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002134

heart valve disease
type: Class
subclass of: heart disease
definition: 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).
has_alternative_id: DOID:989
database_cross_reference: MESH:D006349
database_cross_reference: MESH:D016127
database_cross_reference: NCI:C45525
database_cross_reference: SNOMEDCT_US_2025_09_01:368009
database_cross_reference: SNOMEDCT_US_2025_09_01:398995000
database_cross_reference: UMLS_CUI:C0018824
database_cross_reference: UMLS_CUI:C0079485
has_exact_synonym: Valvular heart disease
has_obo_namespace: disease_ontology
id: DOID:4079
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000946

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/
annotated property: definition
annotated source: tricuspid valve disease
annotated target: A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle.

rheumatic heart disease
type: Class
subclass of: heart valve disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: 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.
creation_date: 2014-02-12T03:03:38Z
has_alternative_id: DOID:9814
database_cross_reference: MESH:D012214
has_exact_synonym: rheumatic carditis
has_obo_namespace: disease_ontology
id: DOID:0050827

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Rheumatic_heart_disease
annotated property: definition
annotated source: rheumatic heart disease
annotated target: 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.

vascular disease
type: Class
subclass of: cardiovascular system disease
definition: 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.
has_alternative_id: DOID:0000405
has_alternative_id: DOID:2403
has_alternative_id: DOID:2869
has_alternative_id: DOID:324
has_alternative_id: DOID:325
has_alternative_id: DOID:45
database_cross_reference: ICD10CM:I72.9
database_cross_reference: ICD9CM:442.9
database_cross_reference: MESH:D000783
database_cross_reference: MESH:D014652
database_cross_reference: MESH:D020758
database_cross_reference: MESH:D020760
database_cross_reference: NCI:C26693
database_cross_reference: NCI:C35117
database_cross_reference: SNOMEDCT_US_2025_09_01:27550009
database_cross_reference: SNOMEDCT_US_2025_09_01:371029002
database_cross_reference: SNOMEDCT_US_2025_09_01:432119003
database_cross_reference: UMLS_CUI:C0002940
database_cross_reference: UMLS_CUI:C0042373
database_cross_reference: UMLS_CUI:C0752127
database_cross_reference: UMLS_CUI:C0752130
has_exact_synonym: vascular tissue disease
has_obo_namespace: disease_ontology
id: DOID:178
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0007798

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Artery#Pathology
annotated property: definition
annotated source: artery disease
annotated target: A vascular disease that is located_in an artery.

pericardium disease
type: Class
subclass of: thoracic disease
subclass of: cardiovascular system disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000915
definition: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
creation_date: 2014-02-18T12:20:15Z
has_obo_namespace: disease_ontology
id: DOID:0050829
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002407

thoracic disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the thoracic cavity.
creation_date: 2011-07-25T02:23:47Z
has_obo_namespace: disease_ontology
id: DOID:0060118
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000915

cardiovascular system disease
type: Class
subclass of: disease of anatomical entity
definition: 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.
has_alternative_id: DOID:73
database_cross_reference: ICD9CM:429.2
database_cross_reference: MESH:D002318
database_cross_reference: NCI:C2931
database_cross_reference: SNOMEDCT_US_2025_09_01:266275004
database_cross_reference: UMLS_CUI:C0007222
has_exact_synonym: disease of subdivision of hemolymphoid system
has_obo_namespace: disease_ontology
id: DOID:1287
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004535

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pericardium
annotated property: definition
annotated source: pericardium disease
annotated target: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.

peripheral artery disease
type: Class
subclass of: artery disease
definition: An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
creation_date: 2014-02-18T12:41:09Z
database_cross_reference: MESH:D058729
has_obo_namespace: disease_ontology
id: DOID:0050830

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm
database_cross_reference: url:https://www.nhlbi.nih.gov/health/health-topics/topics/pad/
annotated property: definition
annotated source: peripheral artery disease
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: neurodegenerative disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
creation_date: 2014-02-24T10:14:57Z
database_cross_reference: GARD:10037
database_cross_reference: MESH:C536841
database_cross_reference: MIM:604218
has_exact_synonym: FENIB
has_obo_namespace: disease_ontology
id: DOID:0050831
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies
database_cross_reference: url:http://www.jbc.org/content/277/19/17367
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport
annotated property: definition
annotated source: familial encephalopathy with neuroserpin inclusion bodies
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: familial encephalopathy with neuroserpin inclusion bodies
annotated target: FENIB

pyrimidine metabolic disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
creation_date: 2014-02-24T10:29:22Z
has_obo_namespace: disease_ontology
id: DOID:0050832

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pyrimidine_metabolism
annotated property: definition
annotated source: pyrimidine metabolic disorder
annotated target: An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.

orotic aciduria
type: Class
subclass of: pyrimidine metabolic disorder
definition: A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
creation_date: 2014-02-24T10:29:22Z
database_cross_reference: MIM:258900
has_obo_namespace: disease_ontology
id: DOID:0050833

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Orotic_aciduria
database_cross_reference: url:http://www.omim.org/entry/258900
annotated property: definition
annotated source: orotic aciduria
annotated target: A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.

CHARGE syndrome
type: Class
subclass of: syndrome
definition: A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
creation_date: 2014-03-18T11:58:38Z
database_cross_reference: GARD:29
database_cross_reference: MESH:D058747
database_cross_reference: MIM:214800
database_cross_reference: NCI:C75100
database_cross_reference: ORDO:138
database_cross_reference: SNOMEDCT_US_2025_09_01:47535005
database_cross_reference: UMLS_CUI:C0265354
database_cross_reference: UMLS_CUI:C2936502
has_exact_synonym: CHARGE association
has_obo_namespace: disease_ontology
id: DOID:0050834
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/CHARGE_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/charge-syndrome
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract
annotated property: definition
annotated source: CHARGE syndrome
annotated target: A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.

generalized dystonia
type: Class
comment: MESH:C538001 added from NeuroDevNet [WAK].
subclass of: dystonia
definition: A dystonia that affects most or all of the body.
creation_date: 2014-03-18T01:13:36Z
has_alternative_id: DOID:11910
has_alternative_id: DOID:11911
has_alternative_id: DOID:11912
has_alternative_id: DOID:14164
has_alternative_id: DOID:5159
has_alternative_id: DOID:531
database_cross_reference: ICD10CM:G24.1
database_cross_reference: ICD10CM:G24.2
database_cross_reference: ICD9CM:333.8
database_cross_reference: MESH:D004422
database_cross_reference: MESH:D020821
database_cross_reference: NCI:C35437
database_cross_reference: NCI:C35438
database_cross_reference: NCI:C35527
database_cross_reference: SNOMEDCT_US_2025_09_01:192852006
database_cross_reference: SNOMEDCT_US_2025_09_01:192859002
database_cross_reference: SNOMEDCT_US_2025_09_01:230321007
database_cross_reference: SNOMEDCT_US_2025_09_01:267584007
database_cross_reference: SNOMEDCT_US_2025_09_01:431034009
database_cross_reference: UMLS_CUI:C0013423
database_cross_reference: UMLS_CUI:C0154674
database_cross_reference: UMLS_CUI:C0154675
database_cross_reference: UMLS_CUI:C0393598
database_cross_reference: UMLS_CUI:C0393601
database_cross_reference: UMLS_CUI:C0752207
has_exact_synonym: familial dystonia
has_exact_synonym: fragments of torsion dystonia
has_obo_namespace: disease_ontology
has_related_synonym: Dystonia 12
id: DOID:0050835
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated property: definition
annotated source: generalized dystonia
annotated target: A dystonia that affects most or all of the body.

Axiom
database_cross_reference: MESH:C538001
annotated property: has_related_synonym
annotated source: generalized dystonia
annotated target: Dystonia 12

focal dystonia
type: Class
subclass of: dystonia
definition: A dystonia that is localized to a specific part of the body.
creation_date: 2014-03-18T01:13:36Z
database_cross_reference: GARD:6458
has_obo_namespace: disease_ontology
id: DOID:0050836
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: dystonia
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001630

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated property: definition
annotated source: focal dystonia
annotated target: A dystonia that is localized to a specific part of the body.

multifocal dystonia
type: Class
subclass of: dystonia
definition: A dystonia that involves two or more unrelated body parts.
creation_date: 2014-03-18T01:13:36Z
has_obo_namespace: disease_ontology
id: DOID:0050837

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated property: definition
annotated source: multifocal dystonia
annotated target: A dystonia that involves two or more unrelated body parts.

segmental dystonia
type: Class
subclass of: dystonia
definition: A dystonia that affects two or more adjacent parts of the body.
creation_date: 2014-03-18T01:13:36Z
has_obo_namespace: disease_ontology
id: DOID:0050838

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated property: definition
annotated source: segmental dystonia
annotated target: A dystonia that affects two or more adjacent parts of the body.

anismus
type: Class
subclass of: focal dystonia
definition: A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.
creation_date: 2014-03-18T01:30:33Z
has_obo_namespace: disease_ontology
id: DOID:0050839

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Anismus
annotated property: definition
annotated source: anismus
annotated target: A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.

cervical dystonia
type: Class
subclass of: focal dystonia
definition: 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.
creation_date: 2014-03-18T01:30:33Z
database_cross_reference: GARD:10668
has_exact_synonym: spasmodic torticollis
has_obo_namespace: disease_ontology
id: DOID:0050840
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007646
database_cross_reference: url:http://en.wikipedia.org/wiki/Spasmodic_torticollis
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1155/
annotated property: definition
annotated source: cervical dystonia
annotated target: 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.

focal hand dystonia
type: Class
subclass of: focal dystonia
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002398
definition: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
creation_date: 2014-03-18T01:30:33Z
has_alternative_id: DOID:13467
database_cross_reference: ICD9CM:333.84
database_cross_reference: SNOMEDCT_US_2025_09_01:52008007
database_cross_reference: UMLS_CUI:C0154676
has_exact_synonym: organic writer's cramp
has_obo_namespace: disease_ontology
id: DOID:0050841

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dystonia
annotated property: definition
annotated source: focal hand dystonia
annotated target: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.

oculogyric crisis
type: Class
subclass of: focal dystonia
definition: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
creation_date: 2014-03-18T01:30:33Z
has_obo_namespace: disease_ontology
id: DOID:0050842

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Oculogyric_crisis
annotated property: definition
annotated source: oculogyric crisis
annotated target: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.

oromandibular dystonia
type: Class
subclass of: focal dystonia
definition: A focal dystonia that is characterized by distortions of the mouth and tongue.
creation_date: 2014-03-18T01:30:33Z
has_obo_namespace: disease_ontology
id: DOID:0050843

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Oromandibular_dystonia
annotated property: definition
annotated source: oromandibular dystonia
annotated target: A focal dystonia that is characterized by distortions of the mouth and tongue.

spasmodic dystonia
type: Class
subclass of: focal dystonia
definition: A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
creation_date: 2014-03-18T01:30:33Z
has_exact_synonym: laryngeal dystonia
has_obo_namespace: disease_ontology
id: DOID:0050844

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx
annotated property: definition
annotated source: spasmodic dystonia
annotated target: A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.

cranio-facial dystonia
type: Class
subclass of: focal dystonia
definition: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
creation_date: 2014-03-18T01:33:33Z
has_obo_namespace: disease_ontology
id: DOID:0050845

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated property: definition
annotated source: cranio-facial dystonia
annotated target: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.

hemidystonia
type: Class
subclass of: multifocal dystonia
definition: A multifocal dystonia that involves the arm and leg on the same side of the body.
creation_date: 2014-03-18T01:39:30Z
has_obo_namespace: disease_ontology
id: DOID:0050846

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm
annotated property: definition
annotated source: hemidystonia
annotated target: A multifocal dystonia that involves the arm and leg on the same side of the body.

sleep apnea
type: Class
subclass of: sleep disorder
definition: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
creation_date: 2014-03-20T03:57:22Z
database_cross_reference: ICD10CM:G47.3
database_cross_reference: ICD9CM:780.57
database_cross_reference: MESH:D012891
database_cross_reference: NCI:C26884
database_cross_reference: SNOMEDCT_US_2025_09_01:206750008
database_cross_reference: UMLS_CUI:C0037315
has_obo_namespace: disease_ontology
id: DOID:0050847
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/
annotated property: definition
annotated source: sleep apnea
annotated target: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.

obstructive sleep apnea
type: Class
comment: Xref MGI.
subclass of: sleep apnea
definition: 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.
creation_date: 2014-03-20T03:57:22Z
database_cross_reference: ICD10CM:G47.33
database_cross_reference: ICD9CM:327.23
database_cross_reference: MESH:D020181
database_cross_reference: MIM:107650
database_cross_reference: NCI:C116337
database_cross_reference: SNOMEDCT_US_2025_09_01:194441007
database_cross_reference: UMLS_CUI:C0520679
has_exact_synonym: obstructive sleep apnea syndrome
has_obo_namespace: disease_ontology
id: DOID:0050848
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007646
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286
database_cross_reference: url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1
annotated property: definition
annotated source: obstructive sleep apnea
annotated target: 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.

periampullary adenoma
type: Class
subclass of: ampulla of Vater benign neoplasm
subclass of: adenoma
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.
creation_date: 2014-04-15T03:26:13Z
has_obo_namespace: disease_ontology
id: DOID:0050849

ampulla of Vater benign neoplasm
type: Class
subclass of: bile duct disease
subclass of: biliary tract benign neoplasm
subclass of: duodenal benign neoplasm
definition: A duodenal benign neoplasm that is located_in the ampulla of Vater.
database_cross_reference: NCI:C4443
database_cross_reference: SNOMEDCT_US_2025_09_01:126858004
database_cross_reference: UMLS_CUI:C0345916
has_exact_synonym: tumor of the ampulla of Vater
has_obo_namespace: disease_ontology
id: DOID:10022
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004913

adenoma
type: Class
subclass of: cell type benign neoplasm
definition: A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
has_alternative_id: DOID:2655
database_cross_reference: MESH:D000236
database_cross_reference: ICDO:8140/0
database_cross_reference: NCI:C2855
database_cross_reference: NCI:C4196
database_cross_reference: SNOMEDCT_US_2025_09_01:443416007
database_cross_reference: SNOMEDCT_US_2025_09_01:79041005
database_cross_reference: UMLS_CUI:C0001430
database_cross_reference: UMLS_CUI:C0334389
has_exact_synonym: acinar cell adenoma
has_exact_synonym: acinic cell adenoma
has_exact_synonym: adenomas
has_obo_namespace: disease_ontology
id: DOID:657
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Class
    intersection of: Restriction
      on property: RO_0001000
      some values from: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/
annotated property: definition
annotated source: periampullary adenoma
annotated target: An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.

diabetic encephalopathy
type: Class
subclass of: brain disease
definition: 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.
creation_date: 2014-04-15T03:33:49Z
has_obo_namespace: disease_ontology
id: DOID:0050850

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20798963
annotated property: definition
annotated source: diabetic encephalopathy
annotated target: 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
type: Class
subclass of: glomerulonephritis
definition: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
creation_date: 2014-04-15T03:40:31Z
has_obo_namespace: disease_ontology
id: DOID:0050851
in_subset: DO_RAD_slim

glomerulonephritis
type: Class
subclass of: DOID_10952
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000098
definition: A nephritis that causes inflammation of the glomeruli located_in kidney.
database_cross_reference: ICD10CM:N08
database_cross_reference: GARD:6516
database_cross_reference: MESH:D005921
database_cross_reference: NCI:C26784
database_cross_reference: SNOMEDCT_US_2025_09_01:36171008
database_cross_reference: UMLS_CUI:C0017658
has_obo_namespace: disease_ontology
id: DOID:2921
in_subset: DO_RAD_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Glomerulosclerosis
annotated property: definition
annotated source: glomerulosclerosis
annotated target: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.

limb ischemia
type: Class
subclass of: ischemia
definition: An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.
creation_date: 2014-04-15T03:46:27Z
has_obo_namespace: disease_ontology
id: DOID:0050852

ischemia
type: Class
subclass of: vascular disease
definition: A vascular disease that is characterized by a restriction in blood supply to tissues.
database_cross_reference: MESH:D007511
database_cross_reference: NCI:C34738
database_cross_reference: SNOMEDCT_US_2025_09_01:52674009
database_cross_reference: UMLS_CUI:C0022116
has_obo_namespace: disease_ontology
id: DOID:326
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Ischemia
annotated property: definition
annotated source: limb ischemia
annotated target: An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.

chronic venous insufficiency
type: Class
subclass of: venous insufficiency
definition: A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.
creation_date: 2014-04-15T03:50:26Z
has_obo_namespace: disease_ontology
id: DOID:0050853

venous insufficiency
type: Class
subclass of: vein disease
definition: A vein disease that is characterized by impaired flow of blood through the veins.
database_cross_reference: ICD9CM:459.81
database_cross_reference: MESH:D014689
database_cross_reference: NCI:C127822
database_cross_reference: SNOMEDCT_US_2025_09_01:20696009
database_cross_reference: UMLS_CUI:C0042485
has_exact_synonym: peripheral venous insufficiency
has_obo_namespace: disease_ontology
id: DOID:10128
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Chronic_venous_insufficiency
annotated property: definition
annotated source: chronic venous insufficiency
annotated target: A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.

Muckle-Wells syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
creation_date: 2014-04-15T03:53:41Z
database_cross_reference: GARD:8472
database_cross_reference: ICD10CM:M04.2
database_cross_reference: MEDDRA:10064569
database_cross_reference: MESH:D056587
database_cross_reference: MIM:191900
database_cross_reference: NCI:C119054
database_cross_reference: ORDO:575
database_cross_reference: SNOMEDCT_US_2025_09_01:15123008
database_cross_reference: UMLS_CUI:C0268390
has_exact_synonym: MWS
has_exact_synonym: neutrophilic urticaria
has_obo_namespace: disease_ontology
id: DOID:0050854
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11687797
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11992256
annotated property: definition
annotated source: Muckle-Wells syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Muckle-Wells syndrome
annotated target: MWS

renal fibrosis
type: Class
subclass of: kidney disease
definition: A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.
creation_date: 2014-04-15T03:56:58Z
has_obo_namespace: disease_ontology
id: DOID:0050855

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/
annotated property: definition
annotated source: renal fibrosis
annotated target: 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
type: Class
subclass of: specific developmental disorder
definition: A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents.
creation_date: 2014-04-15T04:03:08Z
has_obo_namespace: disease_ontology
id: DOID:0050856

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Oppositional_defiant_disorder
annotated property: definition
annotated source: oppositional defiant disorder
annotated target: A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents.

Perrault syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that is characterized by sensorineural hearing loss and ovarian failure.
creation_date: 2014-04-24T01:56:35Z
database_cross_reference: GARD:2542
database_cross_reference: MIM:233400
database_cross_reference: MIM:614129
database_cross_reference: MIM:615300
database_cross_reference: MIM:PS233400
database_cross_reference: ORDO:2855
has_obo_namespace: disease_ontology
id: DOID:0050857
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/LARS2
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23541340
annotated property: definition
annotated source: Perrault syndrome
annotated target: A syndrome that is characterized by sensorineural hearing loss and ovarian failure.

Marshall-Smith syndrome
type: Class
subclass of: syndrome
definition: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
creation_date: 2014-04-24T02:06:30Z
database_cross_reference: GARD:6985
database_cross_reference: MESH:C536026
database_cross_reference: MIM:602535
database_cross_reference: ORDO:561
has_obo_namespace: disease_ontology
id: DOID:0050858
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome
annotated property: definition
annotated source: Marshall-Smith syndrome
annotated target: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.

hemorrhagic cystitis
type: Class
subclass of: cystitis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000041
definition: A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract.
creation_date: 2014-04-29T01:31:08Z
has_obo_namespace: disease_ontology
id: DOID:0050859

cystitis
type: Class
subclass of: bladder disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A bladder disease that is characterized by inflammation of the bladder.
database_cross_reference: ICD10CM:N30
database_cross_reference: ICD9CM:595
database_cross_reference: MESH:D003556
database_cross_reference: NCI:C26738
database_cross_reference: SNOMEDCT_US_2025_09_01:38822007
database_cross_reference: UMLS_CUI:C0010692
has_obo_namespace: disease_ontology
id: DOID:1679
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Hemorrhagic_cystitis
annotated property: definition
annotated source: hemorrhagic cystitis
annotated target: A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract.

colorectal adenoma
type: Class
subclass of: adenoma
subclass of: intestinal benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.
creation_date: 2014-05-05T03:14:49Z
has_obo_namespace: disease_ontology
id: DOID:0050860

intestinal benign neoplasm
type: Class
subclass of: intestinal disease
subclass of: gastrointestinal system benign neoplasm
definition: A gastrointestinal system benign neoplasm that is located_in the intestine.
database_cross_reference: MESH:D007414
database_cross_reference: NCI:C3141
database_cross_reference: SNOMEDCT_US_2025_09_01:126769007
database_cross_reference: UMLS_CUI:C0021841
has_exact_synonym: intestinal tumors
has_exact_synonym: intestine growth
has_exact_synonym: neoplasm of intestinal tract
has_obo_namespace: disease_ontology
id: DOID:4610
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000160

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Colorectal_adenoma
annotated property: definition
annotated source: colorectal adenoma
annotated target: An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.

colorectal adenocarcinoma
type: Class
subclass of: colorectal carcinoma
subclass of: adenocarcinoma
subclass of: Restriction
  on property: RO_0001000
  some values from: Class
    intersection of: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530
definition: A colorectal carcinoma that derives_from epithelial cells of glandular origin.
creation_date: 2014-05-05T03:16:55Z
database_cross_reference: NCI:C5105
database_cross_reference: SNOMEDCT_US_2025_09_01:408645001
database_cross_reference: UMLS_CUI:C1319315
has_obo_namespace: disease_ontology
id: DOID:0050861
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

colorectal carcinoma
type: Class
subclass of: carcinoma
subclass of: DOID 9256
subclass of: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
definition: A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.
database_cross_reference: EFO:1001951
database_cross_reference: MESH:D015179
database_cross_reference: NCI:C2955
database_cross_reference: UMLS_CUI:C0009402
has_obo_namespace: disease_ontology
id: DOID:0080199
in_subset: NCIthesaurus

adenocarcinoma
type: Class
subclass of: carcinoma
definition: A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
database_cross_reference: ICDO:8140/3
database_cross_reference: MESH:D000230
database_cross_reference: NCI:C2852
database_cross_reference: SNOMEDCT_US_2025_09_01:35917007
database_cross_reference: UMLS_CUI:C0001418
has_obo_namespace: disease_ontology
id: DOID:299
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: Class
      intersection of: CL_0000066
      intersection of: Restriction
        on property: has origin
        some values from: UBERON_0002530

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma
annotated property: definition
annotated source: colorectal adenocarcinoma
annotated target: A colorectal carcinoma that derives_from epithelial cells of glandular origin.

pyometritis
type: Class
subclass of: uterine disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity.
creation_date: 2014-05-05T03:25:57Z
has_obo_namespace: disease_ontology
id: DOID:0050862

uterine disease
type: Class
subclass of: female reproductive system disease
definition: A female reproductive system disease that is located_in the uterus.
database_cross_reference: ICD10CM:N85.9
database_cross_reference: ICD9CM:621.9
database_cross_reference: MESH:D014591
database_cross_reference: NCI:C26907
database_cross_reference: SNOMEDCT_US_2025_09_01:237068005
database_cross_reference: UMLS_CUI:C0042131
has_obo_namespace: disease_ontology
id: DOID:345
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000995

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16284801
annotated property: definition
annotated source: pyometritis
annotated target: A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity.

arteritic anterior ischemic optic neuropathy
type: Class
subclass of: anterior ischemic optic neuropathy
definition: 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.
creation_date: 2014-05-09T02:38:13Z
has_obo_namespace: disease_ontology
id: DOID:0050863

anterior ischemic optic neuropathy
type: Class
subclass of: DOID 1891
database_cross_reference: GARD:9790
database_cross_reference: ICD10CM:H47.01
database_cross_reference: ICD9CM:377.41
database_cross_reference: MESH:D018917
database_cross_reference: SNOMEDCT_US_2025_09_01:14357004
database_cross_reference: UMLS_CUI:C0155305
has_exact_synonym: Ischemic optic neuropathy
has_obo_namespace: disease_ontology
id: DOID:12010
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy
annotated property: definition
annotated source: arteritic anterior ischemic optic neuropathy
annotated target: 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.

non-arteritic anterior ischemic optic neuropathy
type: Class
subclass of: anterior ischemic optic neuropathy
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_258660
definition: 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.
creation_date: 2014-05-09T02:38:13Z
has_exact_synonym: non-arteritic anterior ischaemic optic neuropathy
has_exact_synonym: nonarteritic anterior ischaemic optic neuropathy
has_exact_synonym: nonarteritic anterior ischemic optic neuropathy
has_obo_namespace: disease_ontology
id: DOID:0050864

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/
annotated property: definition
annotated source: non-arteritic anterior ischemic optic neuropathy
annotated target: 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.

tongue squamous cell carcinoma
type: Class
subclass of: head and neck squamous cell carcinoma
subclass of: tongue cancer
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001723
definition: A head and neck squamous cell carcinoma that is located_in the tongue.
creation_date: 2014-05-12T02:38:44Z
database_cross_reference: NCI:C4648
database_cross_reference: SNOMEDCT_US_2025_09_01:276952000
database_cross_reference: UMLS_CUI:C0349566
has_obo_namespace: disease_ontology
id: DOID:0050865
in_subset: NCIthesaurus

head and neck squamous cell carcinoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: squamous cell carcinoma
subclass of: DOID 1542
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000076
definition: A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.
database_cross_reference: MESH:D000077195
database_cross_reference: GARD:8503
database_cross_reference: MIM:275355
database_cross_reference: NCI:C34447
database_cross_reference: SNOMEDCT_US_2025_09_01:716659002
database_cross_reference: UMLS_CUI:C1168401
has_exact_synonym: carcinoma of the head and neck
has_exact_synonym: squamous cell carcinoma of the head and neck
has_exact_synonym: squamous cell carcinomas of head and neck
has_obo_namespace: disease_ontology
id: DOID:5520
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

tongue cancer
type: Class
subclass of: oral cavity cancer
subclass of: DOID_10944
has_alternative_id: DOID:8648
has_alternative_id: DOID:8779
has_alternative_id: DOID:8900
has_alternative_id: DOID:8940
has_alternative_id: DOID:8999
has_alternative_id: DOID:9058
has_alternative_id: DOID:9068
has_alternative_id: DOID:9196
database_cross_reference: GARD:7779
database_cross_reference: ICD10CM:C01
database_cross_reference: ICD10CM:C02.0
database_cross_reference: ICD10CM:C02.1
database_cross_reference: ICD10CM:C02.2
database_cross_reference: ICD10CM:C02.4
database_cross_reference: ICD10CM:C02.9
database_cross_reference: ICD9CM:141
database_cross_reference: ICD9CM:141.0
database_cross_reference: ICD9CM:141.1
database_cross_reference: ICD9CM:141.2
database_cross_reference: ICD9CM:141.3
database_cross_reference: ICD9CM:141.5
database_cross_reference: ICD9CM:141.6
database_cross_reference: MESH:D014062
database_cross_reference: NCI:C194029
database_cross_reference: NCI:C194030
database_cross_reference: NCI:C194031
database_cross_reference: NCI:C194033
database_cross_reference: NCI:C3524
database_cross_reference: NCI:C9345
database_cross_reference: SNOMEDCT_US_2025_09_01:187644001
database_cross_reference: SNOMEDCT_US_2025_09_01:363377003
database_cross_reference: SNOMEDCT_US_2025_09_01:93687001
database_cross_reference: SNOMEDCT_US_2025_09_01:93773005
database_cross_reference: SNOMEDCT_US_2025_09_01:94100005
database_cross_reference: SNOMEDCT_US_2025_09_01:94101009
database_cross_reference: SNOMEDCT_US_2025_09_01:94134006
database_cross_reference: UMLS_CUI:C0153349
database_cross_reference: UMLS_CUI:C0153350
database_cross_reference: UMLS_CUI:C0153351
database_cross_reference: UMLS_CUI:C0153356
database_cross_reference: UMLS_CUI:C0474963
database_cross_reference: UMLS_CUI:C0496755
database_cross_reference: UMLS_CUI:C0684333
has_exact_synonym: malignant neoplasm of tongue
has_obo_namespace: disease_ontology
id: DOID:8649
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001723

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma
annotated property: definition
annotated source: tongue squamous cell carcinoma
annotated target: A head and neck squamous cell carcinoma that is located_in the tongue.

oral squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: oral cavity cancer
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000076
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000165
definition: An oral cavity cancer that has_material_basis_in squamous cells.
creation_date: 2014-05-12T02:45:04Z
database_cross_reference: GARD:7263
has_exact_synonym: mouth squamous cell carcinoma
has_obo_namespace: disease_ontology
id: DOID:0050866
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

squamous cell carcinoma
type: Class
subclass of: carcinoma
definition: A carcinoma that derives_from squamous epithelial cells.
has_alternative_id: DOID:5512
database_cross_reference: EFO:0000707
database_cross_reference: GARD:1091
database_cross_reference: ICDO:8070/3
database_cross_reference: MESH:D002294
database_cross_reference: MESH:D018307
database_cross_reference: NCI:C2929
database_cross_reference: SNOMEDCT_US_2025_09_01:1255006006
database_cross_reference: SNOMEDCT_US_2025_09_01:154605007
database_cross_reference: UMLS_CUI:C0007137
database_cross_reference: UMLS_CUI:C0751688
has_exact_synonym: SCC
has_exact_synonym: epidermoid carcinoma
has_exact_synonym: malignant squamous cell tumor
has_exact_synonym: squamous carcinoma
has_exact_synonym: squamous cell Epithelioma
has_exact_synonym: squamous cell cancer
has_obo_namespace: disease_ontology
id: DOID:1749
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000076

oral cavity cancer
type: Class
subclass of: mouth disease
subclass of: gastrointestinal system cancer
definition: A gastrointestinal system cancer that is located_in the oral cavity.
has_alternative_id: DOID:0050627
has_alternative_id: DOID:8617
has_alternative_id: DOID:9049
has_alternative_id: DOID:9055
database_cross_reference: GARD:9360
database_cross_reference: ICD10CM:C04
database_cross_reference: ICD10CM:C04.0
database_cross_reference: ICD10CM:C04.1
database_cross_reference: ICD9CM:144
database_cross_reference: ICD9CM:144.0
database_cross_reference: ICD9CM:144.1
database_cross_reference: NCI:C194037
database_cross_reference: NCI:C194038
database_cross_reference: NCI:C9318
database_cross_reference: SNOMEDCT_US_2025_09_01:187653008
database_cross_reference: SNOMEDCT_US_2025_09_01:93672006
database_cross_reference: SNOMEDCT_US_2025_09_01:93802007
database_cross_reference: UMLS_CUI:C0153368
database_cross_reference: UMLS_CUI:C0153369
database_cross_reference: UMLS_CUI:C0496758
has_exact_synonym: malignant neoplasm of floor of mouth
has_obo_namespace: disease_ontology
id: DOID:8618
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000167

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated property: definition
annotated source: oral squamous cell carcinoma
annotated target: An oral cavity cancer that has_material_basis_in squamous cells.

obsolete Jensen syndrome
type: Class
definition: 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.
creation_date: 2014-06-03T01:18:20Z
has_exact_synonym: opticoacoustic nerve atrophy with dementia
has_obo_namespace: disease_ontology
id: DOID:0050867
owl:deprecated: true

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3425626
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7195649
annotated property: definition
annotated source: obsolete Jensen syndrome
annotated target: 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.

hepatocellular adenoma
type: Class
subclass of: adenoma
subclass of: liver benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: 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.
creation_date: 2014-06-25T05:07:35Z
has_obo_namespace: disease_ontology
id: DOID:0050868

liver benign neoplasm
type: Class
subclass of: liver disease
subclass of: hepatobiliary benign neoplasm
subclass of: endocrine organ benign neoplasm
has_alternative_id: DOID:692
database_cross_reference: NCI:C7103
database_cross_reference: NCI:C7106
database_cross_reference: UMLS_CUI:C1333419
database_cross_reference: UMLS_CUI:C1333976
has_exact_synonym: epithelial hepatic and intrahepatic bile duct neoplasm
has_obo_namespace: disease_ontology
id: DOID:916
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002107

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Hepatocellular_adenoma
annotated property: definition
annotated source: hepatocellular adenoma
annotated target: 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.

villous adenoma
type: Class
subclass of: adenoma
definition: An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body.
creation_date: 2014-06-25T05:08:30Z
database_cross_reference: ICDO:8261/0
has_obo_namespace: disease_ontology
id: DOID:0050869

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma
annotated property: definition
annotated source: villous adenoma
annotated target: 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
type: Class
subclass of: lung carcinoma in situ
subclass of: Restriction
  on property: RO_0001000
  some values from: Class
    intersection of: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530
definition: A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
creation_date: 2014-06-25T05:10:52Z
has_exact_synonym: bronchioalveolar carcinoma
has_obo_namespace: disease_ontology
id: DOID:0050870

lung carcinoma in situ
type: Class
subclass of: in situ carcinoma
definition: An in situ carcinoma that is located_in the lung.
database_cross_reference: ICD10CM:D02.2
database_cross_reference: ICD9CM:231.2
database_cross_reference: NCI:C194869
database_cross_reference: SNOMEDCT_US_2025_09_01:189262006
database_cross_reference: UMLS_CUI:C0154071
has_obo_namespace: disease_ontology
id: DOID:8800
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma
annotated property: definition
annotated source: pulmonary adenocarcinoma in situ
annotated target: A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.

fibroma
type: Class
subclass of: connective tissue benign neoplasm
definition: A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.
creation_date: 2014-06-25T05:14:03Z
database_cross_reference: ICDO:8810/0
database_cross_reference: MESH:D005350
has_obo_namespace: disease_ontology
id: DOID:0050871
in_subset: DO_cancer_slim

connective tissue benign neoplasm
type: Class
subclass of: connective tissue disease
subclass of: musculoskeletal system benign neoplasm
definition: A musculoskeletal system benign neoplasm that is located_in connective tissue.
creation_date: 2011-07-27T02:35:57Z
has_alternative_id: DOID:177
database_cross_reference: MESH:D012983
database_cross_reference: NCI:C3377
database_cross_reference: SNOMEDCT_US_2025_09_01:126600002
database_cross_reference: UMLS_CUI:C0037579
has_exact_synonym: mesenchymal tissue neoplasm
has_exact_synonym: neoplasm of soft tissue
has_exact_synonym: neoplasm of soft tissues
has_exact_synonym: soft tissue benign neoplasm
has_exact_synonym: tumor of the soft tissue
has_obo_namespace: disease_ontology
id: DOID:0060123
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002384

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Fibroma
annotated property: definition
annotated source: fibroma
annotated target: A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.

large cell neuroendocrine carcinoma
type: Class
subclass of: lung large cell carcinoma
definition: A lung large cell carcinoma that derives_from neuroendocrine cells.
creation_date: 2014-06-25T05:17:11Z
database_cross_reference: ICDO:8013/3
has_obo_namespace: disease_ontology
id: DOID:0050872

lung large cell carcinoma
type: Class
subclass of: DOID 3908
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002048
database_cross_reference: NCI:C4450
database_cross_reference: SNOMEDCT_US_2025_09_01:254629004
database_cross_reference: UMLS_CUI:C0345958
has_exact_synonym: large cell carcinoma of lung
has_exact_synonym: large cell lung carcinoma
has_obo_namespace: disease_ontology
id: DOID:4556
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15999058
annotated property: definition
annotated source: large cell neuroendocrine carcinoma
annotated target: A lung large cell carcinoma that derives_from neuroendocrine cells.

follicular lymphoma
type: Class
subclass of: B-cell lymphoma
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_613024
definition: 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).
creation_date: 2014-06-25T05:24:10Z
database_cross_reference: GARD:2356
database_cross_reference: ICDO:9690/3
database_cross_reference: MESH:D008224
has_exact_synonym: BCL2 Apoptosis regulator
has_obo_namespace: disease_ontology
id: DOID:0050873
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Follicular_lymphoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=428287
annotated property: definition
annotated source: follicular lymphoma
annotated target: 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).

obsolete small cell neuroendocrine carcinoma of the lung
type: Class
creation_date: 2014-06-25T05:31:24Z
has_obo_namespace: disease_ontology
id: DOID:0050875
owl:deprecated: true

Caroli disease
type: Class
subclass of: bile duct disease
definition: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
creation_date: 2014-07-09T01:28:09Z
database_cross_reference: GARD:6002
database_cross_reference: MESH:D016767
database_cross_reference: NCI:C84619
database_cross_reference: SNOMEDCT_US_2025_09_01:717232005
database_cross_reference: UMLS_CUI:C0162510
has_obo_namespace: disease_ontology
id: DOID:0050876
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Caroli_disease
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract
annotated property: definition
annotated source: Caroli disease
annotated target: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.

pancreatic agenesis
type: Class
subclass of: pancreas disease
definition: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
creation_date: 2014-07-09T03:35:41Z
database_cross_reference: GARD:4203
database_cross_reference: MIM:PS260370
database_cross_reference: ORDO:2805
has_exact_synonym: Agenesis of the dorsal pancreas
has_exact_synonym: partial pancreatic agenesis
has_obo_namespace: disease_ontology
id: DOID:0050877
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf
annotated property: definition
annotated source: pancreatic agenesis
annotated target: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

obsolete CLONE OF congenital afibrinogenemia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
creation_date: 2014-07-29T01:17:13Z
has_exact_synonym: Factor I deficiency
has_exact_synonym: Fibrinogen deficiency
has_obo_namespace: disease_ontology
id: DOID:0050878
owl:deprecated: true

fragile X-associated tremor/ataxia syndrome
type: Class
subclass of: X-linked hereditary ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: SO_0002165
definition: 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.
creation_date: 2014-08-04T01:52:12Z
database_cross_reference: MIM:300623
has_exact_synonym: FXTAS syndrome
has_obo_namespace: disease_ontology
id: DOID:0050879
in_subset: DO_FlyBase_slim

X-linked hereditary ataxia
type: Class
subclass of: X-linked monogenic disease
subclass of: hereditary ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: A hereditary ataxia that is characterized by X-linked inheritance.
creation_date: 2015-10-05T15:41:09Z
has_obo_namespace: disease_ontology
id: DOID:0050953

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome
database_cross_reference: url:http://omim.org/entry/300623
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18195136
annotated property: definition
annotated source: fragile X-associated tremor/ataxia syndrome
annotated target: 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.

Koolen de Vries syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: 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.
creation_date: 2014-08-06T12:57:12Z
has_alternative_id: DOID:0070076
database_cross_reference: GARD:10727
database_cross_reference: MIM:610443
database_cross_reference: ORDO:96169
has_exact_synonym: 17q21.31 microdeletion syndrome
has_exact_synonym: KANSL1-related intellectual disability syndrome
has_exact_synonym: KdVS
has_exact_synonym: Koolen-De Vries syndrome
has_obo_namespace: disease_ontology
id: DOID:0050880
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007646
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome
database_cross_reference: url:http://omim.org/entry/610443
database_cross_reference: url:http://www.17q21.com/en/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK24676/
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19447831
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22544363
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22544367
annotated property: definition
annotated source: Koolen de Vries syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Koolen de Vries syndrome
annotated target: KdVS

inclusion body myopathy with Paget disease of bone and frontotemporal dementia
type: Class
subclass of: syndrome
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
definition: 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.
creation_date: 2014-08-06T02:30:16Z
database_cross_reference: MESH:C563476
database_cross_reference: MIM:PS167320
database_cross_reference: ORDO:52430
has_exact_synonym: IBMPFD
has_exact_synonym: inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
has_obo_namespace: disease_ontology
id: DOID:0050881
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/167320
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19380227
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21304887
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21892620
annotated property: definition
annotated source: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
annotated target: IBMPFD

spinocerebellar ataxia 5
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2014-08-06T03:51:03Z
database_cross_reference: GARD:4953
database_cross_reference: MIM:600224
has_obo_namespace: disease_ontology
id: DOID:0050882
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

autosomal dominant cerebellar ataxia
type: Class
subclass of: autosomal dominant disease
subclass of: cerebellar ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
has_alternative_id: DOID:2478
database_cross_reference: MESH:D020754
database_cross_reference: MIM:PS164400
database_cross_reference: NCI:C82341
database_cross_reference: ORDO:94
database_cross_reference: SNOMEDCT_US_2025_09_01:129609000
database_cross_reference: UMLS_CUI:C0087012
has_exact_synonym: spinocerebellar ataxia
has_obo_namespace: disease_ontology
id: DOID:1441
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20368622
annotated property: definition
annotated source: spinocerebellar ataxia 5
annotated target: 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.

infantile cerebellar-retinal degeneration
type: Class
subclass of: autosomal recessive disease
subclass of: neurodegenerative disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2014-08-06T04:09:42Z
database_cross_reference: GARD:13264
database_cross_reference: MIM:614559
has_obo_namespace: disease_ontology
id: DOID:0050883
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/614559
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850
database_cross_reference: url:http://www.uniprot.org/diseases/DI-03409
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22405087
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23438437
annotated property: definition
annotated source: infantile cerebellar-retinal degeneration
annotated target: 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
type: Class
subclass of: glucose metabolism disease
definition: 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.
creation_date: 2014-08-07T11:44:31Z
database_cross_reference: GARD:5287
database_cross_reference: MESH:C566029
database_cross_reference: MIM:615512
has_exact_synonym: Triose phosphate-isomerase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050884
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

glucose metabolism disease
type: Class
subclass of: carbohydrate metabolic disorder
definition: A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
database_cross_reference: MESH:D044882
database_cross_reference: NCI:C53655
database_cross_reference: SNOMEDCT_US_2025_09_01:126877002
database_cross_reference: UMLS_CUI:C1257958
has_exact_synonym: disorder of glucose metabolism
has_obo_namespace: disease_ontology
id: DOID:4194
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency
database_cross_reference: url:http://omim.org/entry/615512
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16980388
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17424909
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23318931
annotated property: definition
annotated source: triosephosphate isomerase deficiency
annotated target: 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.

IMAGe syndrome
type: Class
subclass of: syndrome
definition: 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.
creation_date: 2014-08-07T12:04:30Z
database_cross_reference: GARD:12312
database_cross_reference: MIM:614732
has_exact_synonym: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
has_obo_namespace: disease_ontology
id: DOID:0050885
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/614732
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14760276
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22634751
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23719190
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24065356
annotated property: definition
annotated source: IMAGe syndrome
annotated target: 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.

Troyer syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: hereditary spastic paraplegia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
definition: 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.
creation_date: 2014-08-07T12:18:56Z
database_cross_reference: GARD:5372
database_cross_reference: ICD10CM:G11.4
database_cross_reference: MIM:275900
database_cross_reference: ORDO:101000
has_exact_synonym: SPG20
has_exact_synonym: autosomal recessive spastic paraplegia 20
has_exact_synonym: autosomal recessive spastic paraplegia Troyer type
has_exact_synonym: autosomal recessive spastic paraplegia type 20
has_exact_synonym: childhood-onset spastic paraparesis with distal muscle wasting
has_exact_synonym: hereditary spastic paraplegia 20
has_exact_synonym: spastic paraplegia 20
has_exact_synonym: spastic paraplegia type 20
has_obo_namespace: disease_ontology
id: DOID:0050886
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

hereditary spastic paraplegia
type: Class
comment: Xref MGI.
subclass of: DOID 607
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000141
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000349
definition: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
database_cross_reference: ICD10CM:G11.4
database_cross_reference: GARD:6637
database_cross_reference: ICD9CM:334.1
database_cross_reference: MESH:D015419
database_cross_reference: MIM:PS303350
database_cross_reference: NCI:C140267
database_cross_reference: SNOMEDCT_US_2025_09_01:267692008
database_cross_reference: UMLS_CUI:C0037773
has_exact_synonym: French settlement disease
has_exact_synonym: Strumpell-Lorrain disease
has_exact_synonym: familial spastic paraplegia
has_exact_synonym: hereditary spastic paraparesis
has_obo_namespace: disease_ontology
id: DOID:2476
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/SPG20
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/troyer-syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/SPG20
database_cross_reference: url:http://omim.org/entry/275900
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20301556
annotated property: definition
annotated source: Troyer syndrome
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Troyer syndrome
annotated target: SPG20

Townes-Brocks syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
creation_date: 2014-08-11T03:58:35Z
database_cross_reference: GARD:7784
database_cross_reference: MESH:C536974
database_cross_reference: MIM:107480
has_obo_namespace: disease_ontology
id: DOID:0050887
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome
database_cross_reference: url:http://www.omim.org/entry/107480
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12925729
annotated property: definition
annotated source: Townes-Brocks syndrome
annotated target: 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
type: Class
subclass of: intellectual disability
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012759
definition: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
creation_date: 2014-08-14T10:55:32Z
has_obo_namespace: disease_ontology
id: DOID:0050888
in_subset: DO_FlyBase_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Intellectual_disability
annotated property: definition
annotated source: syndromic intellectual disability
annotated target: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Intellectual_disability
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/
annotated property: definition
annotated source: non-syndromic intellectual disability
annotated target: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.

synucleinopathy
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
creation_date: 2014-08-14T03:29:17Z
has_exact_synonym: Synucleinopathies
has_exact_synonym: alpha Synucleinopathies
has_obo_namespace: disease_ontology
id: DOID:0050890
in_subset: DO_FlyBase_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Synucleinopathies
annotated property: definition
annotated source: synucleinopathy
annotated target: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.

adrenal cortical adenoma
type: Class
subclass of: adrenal adenoma
definition: An adrenal adenoma that is a benign tumor of the adrenal cortex.
creation_date: 2014-09-04T01:54:59Z
database_cross_reference: ICDO:8370/0
has_exact_synonym: adrenocortical adenoma
has_obo_namespace: disease_ontology
id: DOID:0050891

adrenal adenoma
type: Class
subclass of: adrenal gland disease
subclass of: endocrine organ benign neoplasm
subclass of: adenoma
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.
database_cross_reference: GARD:5745
has_exact_synonym: adenoma of the Adrenal gland
has_obo_namespace: disease_ontology
id: DOID:656
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002369

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma
annotated property: definition
annotated source: adrenal cortical adenoma
annotated target: An adrenal adenoma that is a benign tumor of the adrenal cortex.

adrenal gland pheochromocytoma
type: Class
subclass of: malignant pheochromocytoma
definition: A malignant pheochromocytoma that is characterized by overproduction of adrenaline.
creation_date: 2014-09-11T01:01:57Z
has_obo_namespace: disease_ontology
id: DOID:0050892
in_subset: DO_cancer_slim

malignant pheochromocytoma
type: Class
subclass of: DOID 5719
definition: An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones.
database_cross_reference: ICDO:8700/3
has_exact_synonym: Pheochromocytoma, malignant
has_obo_namespace: disease_ontology
id: DOID:0080347
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Pheochromocytoma
database_cross_reference: url:http://www.cancer.gov/cancertopics/types/pheochromocytoma
annotated property: definition
annotated source: adrenal gland pheochromocytoma
annotated target: A malignant pheochromocytoma that is characterized by overproduction of adrenaline.

gallbladder adenoma
type: Class
subclass of: adenoma
subclass of: gallbladder benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
creation_date: 2014-09-11T01:53:07Z
has_obo_namespace: disease_ontology
id: DOID:0050893

gallbladder benign neoplasm
type: Class
subclass of: gallbladder disease
subclass of: biliary tract benign neoplasm
definition: A biliary tract benign neoplasm that is located_in the gallbladder.
database_cross_reference: NCI:C4440
has_obo_namespace: disease_ontology
id: DOID:0080640
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002110

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated property: definition
annotated source: gallbladder adenoma
annotated target: A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.

ameloblastoma
type: Class
subclass of: cell type benign neoplasm
definition: A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
creation_date: 2014-09-11T02:44:50Z
database_cross_reference: GARD:5747
database_cross_reference: ICDO:9310/0
database_cross_reference: MESH:D000564
has_obo_namespace: disease_ontology
id: DOID:0050894
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Class
    intersection of: Restriction
      on property: RO_0001000
      some values from: CL_0000066
    intersection of: Restriction
      on property: RO_0004026
      some values from: UBERON_0003843

cell type benign neoplasm
type: Class
subclass of: benign neoplasm
definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
creation_date: 2011-07-14T11:59:48Z
has_obo_namespace: disease_ontology
id: DOID:0060084
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000000

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ameloblastoma
annotated property: definition
annotated source: ameloblastoma
annotated target: A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.

bone ameloblastoma
type: Class
subclass of: bone benign neoplasm
definition: A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
creation_date: 2014-09-11T02:46:51Z
has_obo_namespace: disease_ontology
id: DOID:0050895

bone benign neoplasm
type: Class
subclass of: bone disease
subclass of: connective tissue benign neoplasm
definition: A connective tissue benign neoplasm that is located_in bone.
creation_date: 2011-07-15T01:34:59Z
has_obo_namespace: disease_ontology
id: DOID:0060094
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001474

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ameloblastoma
annotated property: definition
annotated source: bone ameloblastoma
annotated target: A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.

bone squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: bone carcinoma
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000076
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001474
definition: A bone carcinoma that derives_from squamous epithelial cells.
creation_date: 2014-09-11T02:50:46Z
has_obo_namespace: disease_ontology
id: DOID:0050896
in_subset: DO_cancer_slim

bone carcinoma
type: Class
subclass of: carcinoma
subclass of: DOID 184
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000066
definition: A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
database_cross_reference: NCI:C36082
database_cross_reference: SNOMEDCT_US_2025_09_01:269568000
database_cross_reference: UMLS_CUI:C0700110
has_obo_namespace: disease_ontology
id: DOID:2762
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated property: definition
annotated source: bone squamous cell carcinoma
annotated target: A bone carcinoma that derives_from squamous epithelial cells.

bone chondrosarcoma
type: Class
subclass of: chondrosarcoma
definition: A chondrosarcoma that is located_in bone.
creation_date: 2014-09-11T02:55:07Z
has_obo_namespace: disease_ontology
id: DOID:0050897
in_subset: DO_cancer_slim

chondrosarcoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: DOID_0080639
definition: A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
has_alternative_id: DOID:3370
database_cross_reference: GARD:6004
database_cross_reference: GARD:6055
database_cross_reference: ICDO:9220/3
database_cross_reference: MESH:D002813
database_cross_reference: MIM:215300
database_cross_reference: NCI:C2946
database_cross_reference: NCI:C7155
database_cross_reference: SNOMEDCT_US_2025_09_01:443520009
database_cross_reference: SNOMEDCT_US_2025_09_01:735679005
database_cross_reference: UMLS_CUI:C0008479
database_cross_reference: UMLS_CUI:C1335473
has_exact_synonym: Cartilaginous cancer
has_exact_synonym: chondrosarcoma of bone
has_exact_synonym: primary chondrosarcoma of the bone
has_obo_namespace: disease_ontology
id: DOID:3371
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chondrosarcoma
annotated property: definition
annotated source: bone chondrosarcoma
annotated target: A chondrosarcoma that is located_in bone.

phalanx chondroma
type: Class
subclass of: bone benign neoplasm
subclass of: chondroma
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000138
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0003221
definition: A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
creation_date: 2014-09-11T03:42:42Z
has_obo_namespace: disease_ontology
id: DOID:0050898

chondroma
type: Class
subclass of: cell type benign neoplasm
definition: A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
database_cross_reference: GARD:6052
database_cross_reference: ICDO:9220/0
database_cross_reference: MESH:D002812
database_cross_reference: NCI:C53459
database_cross_reference: SNOMEDCT_US_2025_09_01:269638002
database_cross_reference: UMLS_CUI:C0936248
has_exact_synonym: central Chondroma
has_obo_namespace: disease_ontology
id: DOID:2602
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000138

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chondroma
annotated property: definition
annotated source: phalanx chondroma
annotated target: A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.

brain stem medulloblastoma
type: Class
subclass of: medulloblastoma
subclass of: brain stem cancer
definition: A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
creation_date: 2014-10-06T14:23:29Z
has_obo_namespace: disease_ontology
id: DOID:0050899
in_subset: DO_cancer_slim
equivalent class: Class
  intersection of: medulloblastoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002298

medulloblastoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: infratentorial cancer
definition: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
creation_date: 2014-10-06T14:36:37Z
has_alternative_id: DOID:0060105
has_alternative_id: DOID:168
has_alternative_id: DOID:3858
has_alternative_id: DOID:4981
database_cross_reference: GARD:7005
database_cross_reference: ICDO:9470/3
database_cross_reference: MESH:D008527
database_cross_reference: MESH:D018242
database_cross_reference: MIM:155255
database_cross_reference: NCI:C27294
database_cross_reference: NCI:C3222
database_cross_reference: NCI:C3716
database_cross_reference: ORDO:616
database_cross_reference: SNOMEDCT_US_2025_09_01:189925001
database_cross_reference: SNOMEDCT_US_2025_09_01:443333004
database_cross_reference: UMLS_CUI:C0025149
database_cross_reference: UMLS_CUI:C0206663
database_cross_reference: UMLS_CUI:C1334410
has_exact_synonym: CNS PNET
has_exact_synonym: CPNET
has_exact_synonym: Medulloblastoma, histologically defined
has_exact_synonym: brain medulloblastoma
has_exact_synonym: infratentorial primitive neuroectodermal tumor
has_exact_synonym: localized primitive neuroectodermal tumor
has_obo_namespace: disease_ontology
id: DOID:0050902
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

brain stem cancer
type: Class
subclass of: infratentorial cancer
has_alternative_id: DOID:13974
has_alternative_id: DOID:4204
has_alternative_id: DOID:4208
database_cross_reference: GARD:8244
database_cross_reference: ICD10CM:C71.7
database_cross_reference: ICD9CM:191.7
database_cross_reference: MESH:D020295
database_cross_reference: NCI:C3570
database_cross_reference: NCI:C4869
database_cross_reference: NCI:C4975
database_cross_reference: NCI:C5967
database_cross_reference: SNOMEDCT_US_2025_09_01:126961004
database_cross_reference: SNOMEDCT_US_2025_09_01:93726004
database_cross_reference: UMLS_CUI:C0153641
database_cross_reference: UMLS_CUI:C0677866
database_cross_reference: UMLS_CUI:C0751886
database_cross_reference: UMLS_CUI:C1332192
has_exact_synonym: malignant neoplasm of brain stem
has_exact_synonym: malignant neoplasm of brainstem
has_exact_synonym: neoplasm of adult brain stem
has_exact_synonym: neoplasm of brain stem
has_exact_synonym: primary brain Stem tumor
has_exact_synonym: primary brain stem neoplasm
has_obo_namespace: disease_ontology
id: DOID:4203
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002298

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma
annotated property: definition
annotated source: brain stem medulloblastoma
annotated target: A brain stem cancer that begins in the lower part of the brain on the floor of the skull.

sacrum chordoma
type: Class
subclass of: spinal chordoma
definition: A spinal chordoma that is located_in the sacrum.
creation_date: 2014-10-06T14:25:16Z
has_obo_namespace: disease_ontology
id: DOID:0050900
in_subset: DO_cancer_slim

spinal chordoma
type: Class
subclass of: spinal disease
subclass of: DOID 3302
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
definition: A chordoma that derives_from the spine.
database_cross_reference: NCI:C5156
has_exact_synonym: Chordoma of Spine
has_obo_namespace: disease_ontology
id: DOID:4153
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Sacrum
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45297
annotated property: definition
annotated source: sacrum chordoma
annotated target: A spinal chordoma that is located_in the sacrum.

corpus callosum oligodendroglioma
type: Class
subclass of: oligodendroglioma
subclass of: brain oligodendroglioma
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000125
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000128
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002336
definition: A brain oligodendroglioma located_in the corpus callosum.
creation_date: 2014-10-06T14:26:18Z
has_obo_namespace: disease_ontology
id: DOID:0050901
in_subset: DO_cancer_slim

oligodendroglioma
type: Class
subclass of: DOID 3070
has_alternative_id: DOID:3182
database_cross_reference: ICDO:9450/3
database_cross_reference: GARD:9953
database_cross_reference: MESH:D009837
database_cross_reference: NCI:C3288
database_cross_reference: UMLS_CUI:C0751396
has_exact_synonym: oligodendroglial neoplasm
has_exact_synonym: oligodendroglial tumor
has_obo_namespace: disease_ontology
id: DOID:3181
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Class
    intersection of: Restriction
      on property: RO_0001000
      some values from: CL_0000125
    intersection of: Restriction
      on property: RO_0001000
      some values from: CL_0000128

brain oligodendroglioma
type: Class
subclass of: brain glioma
definition: A brain glioma that has_material_basis_in oligodendrocytes.
database_cross_reference: NCI:C9377
database_cross_reference: SNOMEDCT_US_2025_09_01:254940005
database_cross_reference: UMLS_CUI:C0346286
has_exact_synonym: Oligodendroglioma of brain
has_obo_namespace: disease_ontology
id: DOID:3187
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Corpus_callosum
database_cross_reference: url:http://en.wikipedia.org/wiki/Oligodendroglioma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46257
annotated property: definition
annotated source: corpus callosum oligodendroglioma
annotated target: A brain oligodendroglioma located_in the corpus callosum.

infratentorial cancer
type: Class
subclass of: brain cancer
definition: A brain cancer that is located_in the infratentorial region.
has_alternative_id: DOID:4789
database_cross_reference: ICD10CM:C71.7
database_cross_reference: MESH:D015192
database_cross_reference: NCI:C3139
database_cross_reference: NCI:C4966
database_cross_reference: UMLS_CUI:C0021432
database_cross_reference: UMLS_CUI:C0751593
has_exact_synonym: brain neoplasm, Infratentorial
has_exact_synonym: malignant Infratentorial tumors
has_obo_namespace: disease_ontology
id: DOID:4706
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45780
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/
annotated property: definition
annotated source: medulloblastoma
annotated target: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: medulloblastoma
annotated target: CNS PNET

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: medulloblastoma
annotated target: CPNET

parietal lobe ependymoma
type: Class
subclass of: parietal lobe neoplasm
definition: A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
creation_date: 2014-10-08T16:00:54Z
has_obo_namespace: disease_ontology
id: DOID:0050903
in_subset: DO_cancer_slim

parietal lobe neoplasm
type: Class
subclass of: cerebrum cancer
definition: A cerebrum cancer that is located_in the parietal lobe.
has_alternative_id: DOID:14383
database_cross_reference: ICD10CM:C71.3
database_cross_reference: ICD9CM:191.3
database_cross_reference: NCI:C194416
database_cross_reference: NCI:C5573
database_cross_reference: SNOMEDCT_US_2025_09_01:126956001
database_cross_reference: SNOMEDCT_US_2025_09_01:93946000
database_cross_reference: UMLS_CUI:C0153637
database_cross_reference: UMLS_CUI:C1263888
has_exact_synonym: malignant neoplasm of parietal lobe
has_exact_synonym: tumor of Parietal Lobe
has_obo_namespace: disease_ontology
id: DOID:14384
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001872

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46432
annotated property: definition
annotated source: parietal lobe ependymoma
annotated target: A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.

salivary gland carcinoma
type: Class
subclass of: carcinoma
subclass of: salivary gland cancer
definition: A salivary gland cancer that has_material_basis_in epithelial cells.
creation_date: 2014-10-08T16:52:58Z
has_obo_namespace: disease_ontology
id: DOID:0050904
in_subset: DO_cancer_slim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001044

salivary gland cancer
type: Class
subclass of: oral cavity cancer
subclass of: DOID_10854
definition: An oral cavity cancer that is located_in the salivary gland.
has_alternative_id: DOID:8873
has_alternative_id: DOID:9148
database_cross_reference: ICD10CM:C08
database_cross_reference: ICD9CM:142.8
database_cross_reference: SNOMEDCT_US_2025_09_01:187648003
database_cross_reference: UMLS_CUI:C0153362
has_exact_synonym: malignant neoplasm of salivary gland
has_obo_namespace: disease_ontology
id: DOID:8850
in_subset: DO_cancer_slim
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001044

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Salivary_gland_neoplasm
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45963
annotated property: definition
annotated source: salivary gland carcinoma
annotated target: A salivary gland cancer that has_material_basis_in epithelial cells.

inflammatory myofibroblastic tumor
type: Class
subclass of: mesenchymal cell neoplasm
definition: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
creation_date: 2014-10-09T14:18:08Z
database_cross_reference: GARD:7146
has_obo_namespace: disease_ontology
id: DOID:0050905
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

mesenchymal cell neoplasm
type: Class
subclass of: cell type cancer
definition: 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.
has_alternative_id: DOID:1630
database_cross_reference: NCI:C6587
database_cross_reference: NCI:C7059
database_cross_reference: UMLS_CUI:C1332517
database_cross_reference: UMLS_CUI:C1334699
has_exact_synonym: benign miscellaneous mesenchymal tumor
has_exact_synonym: mesenchymal tumor
has_obo_namespace: disease_ontology
id: DOID:3350
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0008019

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23091756
annotated property: definition
annotated source: inflammatory myofibroblastic tumor
annotated target: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.

conjunctival nevus
type: Class
subclass of: sensory organ benign neoplasm
subclass of: conjunctival disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001811
definition: A sensory organ benign neoplasm that is located in the eye conjunctiva.
creation_date: 2014-10-13T11:47:25Z
has_obo_namespace: disease_ontology
id: DOID:0050906

sensory organ benign neoplasm
type: Class
subclass of: sensory system disease
subclass of: nervous system benign neoplasm
definition: A nervous system benign neoplasm that is located_in a sensory organ.
creation_date: 2011-07-15T01:45:26Z
has_obo_namespace: disease_ontology
id: DOID:0060096
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032

conjunctival disease
type: Class
subclass of: eye disease
definition: An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
database_cross_reference: ICD10CM:H11.9
database_cross_reference: ICD9CM:372.9
database_cross_reference: MESH:D003229
database_cross_reference: NCI:C27605
database_cross_reference: SNOMEDCT_US_2025_09_01:194583004
database_cross_reference: UMLS_CUI:C0009759
has_obo_namespace: disease_ontology
id: DOID:4251
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001811

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Conjunctiva
database_cross_reference: url:http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors
annotated property: definition
annotated source: conjunctival nevus
annotated target: A sensory organ benign neoplasm that is located in the eye conjunctiva.

mixed extragonadal germ cell cancer
type: Class
subclass of: mixed germ cell cancer
definition: A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
creation_date: 2014-10-13T12:37:37Z
has_obo_namespace: disease_ontology
id: DOID:0050907
in_subset: DO_cancer_slim

mixed germ cell cancer
type: Class
subclass of: DOID 2994
definition: A germ cell cancer that occurs in many forms.
database_cross_reference: ICDO:9085/3
database_cross_reference: NCI:C4290
database_cross_reference: SNOMEDCT_US_2025_09_01:189853002
database_cross_reference: UMLS_CUI:C0334524
has_exact_synonym: mixed germ cell neoplasm
has_exact_synonym: mixed germ cell tumor
has_exact_synonym: mixed germ cell tumour
has_exact_synonym: mixed teratoma and seminoma
has_obo_namespace: disease_ontology
id: DOID:3306
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=444993
annotated property: definition
annotated source: mixed extragonadal germ cell cancer
annotated target: A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.

myelodysplastic syndrome
type: Class
subclass of: bone marrow cancer
definition: A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
creation_date: 2014-10-13T12:51:33Z
database_cross_reference: GARD:7132
database_cross_reference: ICDO:9989/3
database_cross_reference: MESH:D009190
database_cross_reference: MIM:614286
database_cross_reference: UMLS_CUI:C2713368
has_obo_namespace: disease_ontology
id: DOID:0050908
in_subset: DO_cancer_slim
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Myelodysplastic_syndrome
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45266
annotated property: definition
annotated source: myelodysplastic syndrome
annotated target: 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
type: Class
subclass of: marginal zone lymphoma
definition: A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
creation_date: 2014-10-13T14:17:40Z
database_cross_reference: ICDO:9699/3
database_cross_reference: MIM:137245
database_cross_reference: NCI:C3898
has_exact_synonym: MALT lymphoma
has_exact_synonym: MALT lymphoma of the dura
has_exact_synonym: mucosa-associated lymphoid tissue lymphoma
has_obo_namespace: disease_ontology
id: DOID:0050909
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45774
database_cross_reference: url:http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt
annotated property: definition
annotated source: extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
annotated target: A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.

cecum adenoma
type: Class
subclass of: adenoma
subclass of: cecal benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
creation_date: 2014-10-13T14:41:01Z
has_exact_synonym: caecum adenoma
has_obo_namespace: disease_ontology
id: DOID:0050910

cecal benign neoplasm
type: Class
subclass of: intestinal benign neoplasm
subclass of: DOID 1518
definition: An intestinal benign neoplasm that is located_in the cecum.
database_cross_reference: MESH:D002430
database_cross_reference: NCI:C4433
database_cross_reference: SNOMEDCT_US_2025_09_01:126839008
database_cross_reference: UMLS_CUI:C0007528
has_exact_synonym: cecum neoplasm
has_exact_synonym: neoplasm of caecum
has_obo_namespace: disease_ontology
id: DOID:1517
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001153

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated property: definition
annotated source: cecum adenoma
annotated target: A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.

appendix carcinoid tumor
type: Class
subclass of: appendix cancer
definition: An appendix cancer that has_material_basis_in neurodendocrine cells.
creation_date: 2014-10-13T14:45:41Z
has_exact_synonym: appendix carcinoid endocrine tumour
has_obo_namespace: disease_ontology
id: DOID:0050911
in_subset: DO_cancer_slim

appendix cancer
type: Class
subclass of: DOID_10155
subclass of: DOID_60000
definition: A intestinal cancer that is located_in the appendix.
database_cross_reference: ICD10CM:C18.1
database_cross_reference: ICD9CM:153.5
database_cross_reference: MESH:D001063
database_cross_reference: NCI:C9333
database_cross_reference: SNOMEDCT_US_2025_09_01:93679002
database_cross_reference: UMLS_CUI:C0496779
has_exact_synonym: cancer of the appendix
has_exact_synonym: malignant neoplasm of appendix vermiformis
has_exact_synonym: malignant tumor of appendix
has_exact_synonym: malignant tumor of the appendix
has_obo_namespace: disease_ontology
id: DOID:11239
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001154

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoid
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=44233
annotated property: definition
annotated source: appendix carcinoid tumor
annotated target: An appendix cancer that has_material_basis_in neurodendocrine cells.

colon adenoma
type: Class
subclass of: adenoma
subclass of: colonic benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
creation_date: 2014-10-13T14:56:27Z
has_obo_namespace: disease_ontology
id: DOID:0050912

colonic benign neoplasm
type: Class
subclass of: intestinal benign neoplasm
subclass of: DOID 5353
subclass of: DOID 1475
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001155
definition: An intestinal benign neoplasm that is located_in the colon.
database_cross_reference: MESH:D003110
database_cross_reference: NCI:C2953
database_cross_reference: SNOMEDCT_US_2025_09_01:126838000
database_cross_reference: UMLS_CUI:C0009375
has_exact_synonym: Colonic Mass
has_exact_synonym: Colonic tumor
has_exact_synonym: colon neoplasm
has_exact_synonym: neoplasm of colon
has_obo_namespace: disease_ontology
id: DOID:235
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: DOID 1475
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001155

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Colorectal_adenoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46217
annotated property: definition
annotated source: colon adenoma
annotated target: A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.

large intestine adenocarcinoma
type: Class
subclass of: large intestine cancer
subclass of: adenocarcinoma
subclass of: Restriction
  on property: RO_0001000
  some values from: Class
    intersection of: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530
definition: A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
creation_date: 2014-10-13T15:00:10Z
has_obo_namespace: disease_ontology
id: DOID:0050913
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46216
annotated property: definition
annotated source: large intestine adenocarcinoma
annotated target: A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.

large intestine adenoma
type: Class
subclass of: adenoma
subclass of: intestinal benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000059
definition: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
creation_date: 2014-10-13T15:07:10Z
has_obo_namespace: disease_ontology
id: DOID:0050914

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated property: definition
annotated source: large intestine adenoma
annotated target: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.

rectal adenoma
type: Class
subclass of: adenoma
subclass of: rectal benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001052
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
definition: An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
creation_date: 2014-10-13T15:09:51Z
database_cross_reference: NCI:C5546
has_exact_synonym: rectum adenoma
has_obo_namespace: disease_ontology
id: DOID:0050915
in_subset: NCIthesaurus

rectal benign neoplasm
type: Class
subclass of: intestinal benign neoplasm
definition: An intestinal benign neoplasm located_in the rectum.
database_cross_reference: MESH:D012004
database_cross_reference: NCI:C3350
database_cross_reference: SNOMEDCT_US_2025_09_01:126847008
database_cross_reference: UMLS_CUI:C0034885
has_exact_synonym: Rectal tumor
has_exact_synonym: neoplasm of rectum
has_exact_synonym: rectum neoplasm
has_obo_namespace: disease_ontology
id: DOID:1984
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001052

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated property: definition
annotated source: rectal adenoma
annotated target: An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.

bronchus mucoepidermoid carcinoma
type: Class
subclass of: mucoepidermoid carcinoma
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002185
definition: A mucoepidermoid carcinoma located_in the bronchus.
creation_date: 2014-10-13T15:13:54Z
has_obo_namespace: disease_ontology
id: DOID:0050916
in_subset: DO_cancer_slim

mucoepidermoid carcinoma
type: Class
subclass of: carcinoma
definition: 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.
database_cross_reference: GARD:10671
database_cross_reference: ICDO:8430/3
database_cross_reference: MESH:D018277
database_cross_reference: NCI:C3772
database_cross_reference: SNOMEDCT_US_2025_09_01:4079000
database_cross_reference: UMLS_CUI:C0206694
has_exact_synonym: MEC
has_obo_namespace: disease_ontology
id: DOID:4531
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma
annotated property: definition
annotated source: bronchus mucoepidermoid carcinoma
annotated target: A mucoepidermoid carcinoma located_in the bronchus.

lung combined type small cell adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: lung combined type small cell carcinoma
subclass of: Restriction
  on property: RO_0001000
  some values from: Class
    intersection of: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002048
definition: A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
creation_date: 2014-10-13T15:36:11Z
has_obo_namespace: disease_ontology
id: DOID:0050917
in_subset: DO_cancer_slim

lung combined type small cell carcinoma
type: Class
subclass of: DOID 5409
definition: 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.
database_cross_reference: NCI:C9137
database_cross_reference: SNOMEDCT_US_2025_09_01:1363557004
database_cross_reference: UMLS_CUI:C1333125
has_exact_synonym: Combined small cell carcinoma of the lung
has_obo_namespace: disease_ontology
has_related_synonym: combined type small cell carcinoma of lung
id: DOID:5421
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46216
database_cross_reference: url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45327
annotated property: definition
annotated source: lung combined type small cell adenocarcinoma
annotated target: A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.

vaginal carcinoma
type: Class
subclass of: carcinoma
subclass of: vaginal cancer
subclass of: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
definition: A vaginal cancer that has_material_basis_in epithelial cells.
creation_date: 2014-10-21T11:37:19Z
has_obo_namespace: disease_ontology
id: DOID:0050918
in_subset: DO_cancer_slim

vaginal cancer
type: Class
subclass of: vaginal disease
subclass of: DOID 120
definition: A female reproductive system cancer that is located_in the vagina.
has_alternative_id: DOID:1902
database_cross_reference: GARD:9348
database_cross_reference: ICD10CM:C52
database_cross_reference: ICD9CM:184.0
database_cross_reference: MESH:D014625
database_cross_reference: NCI:C3437
database_cross_reference: NCI:C7410
database_cross_reference: SNOMEDCT_US_2025_09_01:126921000
database_cross_reference: SNOMEDCT_US_2025_09_01:363445000
database_cross_reference: UMLS_CUI:C0042237
database_cross_reference: UMLS_CUI:C0042258
has_exact_synonym: malignant neoplasm of vagina
has_exact_synonym: malignant tumor of vagina
has_exact_synonym: malignant vaginal tumor
has_exact_synonym: neoplasm of vagina
has_exact_synonym: vagina neoplasm
has_exact_synonym: vaginal tumor
has_obo_namespace: disease_ontology
id: DOID:119
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000996

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoma
annotated property: definition
annotated source: vaginal carcinoma
annotated target: A vaginal cancer that has_material_basis_in epithelial cells.

trachea mucoepidermoid carcinoma
type: Class
subclass of: mucoepidermoid carcinoma
subclass of: tracheal cancer
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0003126
definition: A mucoepidermoid carcinoma located_in the trachea.
creation_date: 2014-10-21T11:42:42Z
has_obo_namespace: disease_ontology
id: DOID:0050919
in_subset: DO_cancer_slim

tracheal cancer
type: Class
subclass of: respiratory system cancer
subclass of: DOID 3225
definition: A respiratory system cancer that is located_in the trachea.
database_cross_reference: ICD10CM:C33
database_cross_reference: ICD9CM:162.0
database_cross_reference: NCI:C9346
database_cross_reference: SNOMEDCT_US_2025_09_01:363432004
database_cross_reference: UMLS_CUI:C0153489
has_obo_namespace: disease_ontology
id: DOID:11920
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0003126

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma
annotated property: definition
annotated source: trachea mucoepidermoid carcinoma
annotated target: A mucoepidermoid carcinoma located_in the trachea.

tonsil squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: tonsil cancer
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000076
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002372
definition: A tonsil cancer that has_material_basis_in squamous cells.
creation_date: 2014-10-21T11:48:00Z
has_obo_namespace: disease_ontology
id: DOID:0050920
in_subset: DO_cancer_slim

tonsil cancer
type: Class
subclass of: lymphatic system cancer
subclass of: DOID 8557
database_cross_reference: ICD10CM:C09
database_cross_reference: ICD9CM:146.0
database_cross_reference: MESH:D014067
database_cross_reference: NCI:C7404
database_cross_reference: SNOMEDCT_US_2025_09_01:93937006
database_cross_reference: UMLS_CUI:C0751560
has_exact_synonym: malignant Tonsillar tumor
has_exact_synonym: malignant neoplasm of faucial tonsil
has_exact_synonym: malignant neoplasm of palatine tonsil
has_exact_synonym: malignant neoplasm of tonsil, faucial
has_exact_synonym: malignant tumor of tonsil
has_obo_namespace: disease_ontology
id: DOID:8858
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002372

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated property: definition
annotated source: tonsil squamous cell carcinoma
annotated target: A tonsil cancer that has_material_basis_in squamous cells.

pharynx squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: pharynx cancer
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000076
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0006562
definition: A pharynx cancer that has_material_basis_in squamous cells.
creation_date: 2014-10-21T11:54:00Z
has_obo_namespace: disease_ontology
id: DOID:0050921
in_subset: DO_cancer_slim

pharynx cancer
type: Class
subclass of: gastrointestinal system cancer
definition: A gastrointestinal system cancer that is located_in the pharynx.
creation_date: 2011-07-27T01:26:34Z
database_cross_reference: MESH:D010610
database_cross_reference: NCI:C3325
database_cross_reference: SNOMEDCT_US_2025_09_01:126685009
database_cross_reference: UMLS_CUI:C0031347
has_exact_synonym: pharyngeal neoplasm
has_exact_synonym: pharynx neoplasm
has_obo_namespace: disease_ontology
has_related_synonym: pharyngeal cancer
id: DOID:0060119
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0006562

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma
annotated property: definition
annotated source: pharynx squamous cell carcinoma
annotated target: A pharynx cancer that has_material_basis_in squamous cells.

gastrointestinal carcinoma
type: Class
subclass of: gastrointestinal system cancer
subclass of: carcinoma
subclass of: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
definition: A gastrointestinal system cancer that has_material_basis_in epithelial cells.
creation_date: 2014-10-21T11:56:36Z
has_obo_namespace: disease_ontology
id: DOID:0050922
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoma
annotated property: definition
annotated source: gastrointestinal carcinoma
annotated target: A gastrointestinal system cancer that has_material_basis_in epithelial cells.

spindle epithelial tumor with thymus-like differentiation tumor
type: Class
subclass of: thyroid gland carcinoma
definition: 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.
creation_date: 2014-10-21T12:26:31Z
has_exact_synonym: SETTLE tumor
has_exact_synonym: SETTLE tumour
has_exact_synonym: spindle epithelial tumour with thymus-like differentiation tumour
has_obo_namespace: disease_ontology
id: DOID:0050923
in_subset: DO_cancer_slim

thyroid gland carcinoma
type: Class
subclass of: carcinoma
subclass of: DOID 1781
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000066
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002046
definition: A thyroid gland cancer that has_material_basis_in epithelial cells.
database_cross_reference: MESH:D013964
database_cross_reference: EFO:0002892
database_cross_reference: NCI:C4815
database_cross_reference: UMLS_CUI:C0549473
has_exact_synonym: Thyroid carcinoma
has_exact_synonym: head and neck cancer, Thyroid
has_obo_namespace: disease_ontology
id: DOID:3963
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://www.pathologyoutlines.com/topic/thyroidsettle.html
database_cross_reference: url:http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19417583
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2050369
annotated property: definition
annotated source: spindle epithelial tumor with thymus-like differentiation tumor
annotated target: 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.

striated muscle rhabdoid tumor
type: Class
subclass of: muscle cancer
definition: 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.
creation_date: 2014-10-21T12:38:23Z
has_obo_namespace: disease_ontology
id: DOID:0050924
in_subset: DO_cancer_slim

muscle cancer
type: Class
subclass of: muscular disease
subclass of: musculoskeletal system cancer
definition: A musculoskeletal system cancer that is located_in muscle.
has_alternative_id: DOID:4046
database_cross_reference: ICD10CM:C49
database_cross_reference: MESH:D009217
database_cross_reference: MESH:D019042
database_cross_reference: NCI:C214801
database_cross_reference: NCI:C4883
database_cross_reference: SNOMEDCT_US_2025_09_01:20667008
database_cross_reference: SNOMEDCT_US_2025_09_01:93913006
database_cross_reference: UMLS_CUI:C0027095
database_cross_reference: UMLS_CUI:C0684743
has_exact_synonym: malignant neoplasm of muscle
has_exact_synonym: malignant tumor of muscle
has_exact_synonym: malignant tumor of the Muscle
has_exact_synonym: myosarcoma
has_obo_namespace: disease_ontology
id: DOID:4045
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002385

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46139
annotated property: definition
annotated source: striated muscle rhabdoid tumor
annotated target: 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.

small intestine carcinoid neuroendocrine tumor
type: Class
subclass of: small intestine cancer
subclass of: neuroendocrine tumor
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002108
definition: A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.
creation_date: 2014-10-21T12:58:08Z
has_broad_synonym: intestinal carcinoid tumour
database_cross_reference: MIM:114900
has_obo_namespace: disease_ontology
id: DOID:0050925
in_subset: DO_cancer_slim

small intestine cancer
type: Class
subclass of: DOID_10155
definition: An intestinal cancer that is located_in the small intestine.
database_cross_reference: GARD:9385
database_cross_reference: ICD10CM:C17
database_cross_reference: ICD9CM:152.9
database_cross_reference: NCI:C7523
database_cross_reference: SNOMEDCT_US_2025_09_01:363509000
database_cross_reference: UMLS_CUI:C0153425
has_obo_namespace: disease_ontology
id: DOID:10154
in_subset: DO_rare_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002108

neuroendocrine tumor
type: Class
subclass of: DOID 170
definition: An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
database_cross_reference: ICD10CM:D3A.8
database_cross_reference: ICD9CM:209-209.99
database_cross_reference: ICDO:8240/3
database_cross_reference: MESH:D018358
database_cross_reference: NCI:C3809
database_cross_reference: SNOMEDCT_US_2025_09_01:55937004
database_cross_reference: UMLS_CUI:C0206754
has_exact_synonym: neuroendocrine neoplasm
has_obo_namespace: disease_ontology
id: DOID:169
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoid
annotated property: definition
annotated source: small intestine carcinoid neuroendocrine tumor
annotated target: A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.

jejunal adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: jejunal cancer
subclass of: Restriction
  on property: RO_0001000
  some values from: Class
    intersection of: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530
definition: A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
creation_date: 2014-10-21T13:00:15Z
has_obo_namespace: disease_ontology
id: DOID:0050926
in_subset: DO_cancer_slim

jejunal cancer
type: Class
subclass of: small intestine cancer
database_cross_reference: ICD10CM:C17.1
database_cross_reference: ICD9CM:152.1
database_cross_reference: MESH:D007580
database_cross_reference: NCI:C170919
database_cross_reference: SNOMEDCT_US_2025_09_01:93846004
database_cross_reference: UMLS_CUI:C0153427
has_exact_synonym: malignant neoplasm of jejunum
has_exact_synonym: malignant tumor of jejunum
has_obo_namespace: disease_ontology
id: DOID:13499
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002115

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma
annotated property: definition
annotated source: jejunal adenocarcinoma
annotated target: A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.

duodenum adenoma
type: Class
subclass of: adenoma
subclass of: duodenal benign neoplasm
subclass of: Class
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: has origin
    some values from: UBERON_0002530
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002114
definition: A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
creation_date: 2014-10-21T13:02:15Z
has_obo_namespace: disease_ontology
id: DOID:0050927

duodenal benign neoplasm
type: Class
subclass of: DOID 4072
subclass of: DOID 7505
database_cross_reference: MESH:D004379
database_cross_reference: NCI:C2995
database_cross_reference: SNOMEDCT_US_2025_09_01:126833009
database_cross_reference: UMLS_CUI:C0013291
has_exact_synonym: neoplasm of duodenum
has_exact_synonym: neoplasm of the duodenum
has_obo_namespace: disease_ontology
id: DOID:1737
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002114

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma
annotated property: definition
annotated source: duodenum adenoma
annotated target: A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.

ovarian melanoma
type: Class
subclass of: ovarian cancer
definition: An ovarian cancer that has_material_basis_in melanoctyes.
creation_date: 2014-10-21T13:27:44Z
has_obo_namespace: disease_ontology
id: DOID:0050928
in_subset: DO_cancer_slim

ovarian cancer
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: ovarian disease
subclass of: DOID 120
definition: A female reproductive organ cancer that is located_in the ovary.
has_alternative_id: DOID:0060070
has_alternative_id: DOID:2144
has_alternative_id: DOID:9595
database_cross_reference: GARD:7295
database_cross_reference: ICD10CM:C56
database_cross_reference: ICD9CM:183.0
database_cross_reference: MESH:D010051
database_cross_reference: MIM:167000
database_cross_reference: MIM:607893
database_cross_reference: NCI:C4984
database_cross_reference: NCI:C7431
database_cross_reference: ORDO:213500
database_cross_reference: ORDO:213517
database_cross_reference: SNOMEDCT_US_2025_09_01:123843001
database_cross_reference: SNOMEDCT_US_2025_09_01:372117006
database_cross_reference: SNOMEDCT_US_2025_09_01:93934004
database_cross_reference: UMLS_CUI:C0919267
database_cross_reference: UMLS_CUI:C1140680
database_cross_reference: UMLS_CUI:C1299247
has_exact_synonym: malignant Ovarian tumor
has_exact_synonym: malignant tumour of ovary
has_exact_synonym: ovarian neoplasm
has_exact_synonym: ovary neoplasm
has_exact_synonym: primary ovarian cancer
has_exact_synonym: tumor of the Ovary
has_obo_namespace: disease_ontology
id: DOID:2394
in_subset: DO_CFDE_slim
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000992

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Melanoma
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15166669
annotated property: definition
annotated source: ovarian melanoma
annotated target: An ovarian cancer that has_material_basis_in melanoctyes.

mucosal melanoma
type: Class
subclass of: melanoma
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000148
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000344
definition: A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
creation_date: 2014-10-21T13:51:49Z
has_obo_namespace: disease_ontology
id: DOID:0050929
in_subset: DO_cancer_slim

melanoma
type: Class
subclass of: cell type cancer
definition: 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.
database_cross_reference: EFO:0000756
database_cross_reference: ICDO:8720/3
database_cross_reference: KEGG:05218
database_cross_reference: MESH:D008545
database_cross_reference: NCI:C3224
database_cross_reference: SNOMEDCT_US_2025_09_01:2092003
database_cross_reference: UMLS_CUI:C0025202
has_exact_synonym: Naevocarcinoma
has_exact_synonym: malignant melanoma
has_obo_namespace: disease_ontology
id: DOID:1909
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000148

Axiom
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic
annotated property: definition
annotated source: mucosal melanoma
annotated target: A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.

sublingual gland adenoid cystic carcinoma
type: Class
subclass of: sublingual gland cancer
definition: 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.
creation_date: 2014-10-21T14:04:40Z
has_obo_namespace: disease_ontology
id: DOID:0050930
in_subset: DO_cancer_slim

sublingual gland cancer
type: Class
subclass of: salivary gland cancer
definition: A salivary gland cancer that is located_in the sublingual gland.
database_cross_reference: ICD10CM:C08.1
database_cross_reference: ICD9CM:142.2
database_cross_reference: NCI:C3527
database_cross_reference: SNOMEDCT_US_2025_09_01:94076001
database_cross_reference: UMLS_CUI:C0153361
has_exact_synonym: malignant tumor of sublingual gland
has_exact_synonym: malignant tumor of the Sublingual gland
has_obo_namespace: disease_ontology
id: DOID:8849
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001832

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma
annotated property: definition
annotated source: sublingual gland adenoid cystic carcinoma
annotated target: 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.

parotid gland adenoid cystic carcinoma
type: Class
subclass of: parotid gland cancer
definition: 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.
creation_date: 2014-10-21T14:09:29Z
has_obo_namespace: disease_ontology
id: DOID:0050931
in_subset: DO_cancer_slim

parotid gland cancer
type: Class
subclass of: salivary gland cancer
subclass of: DOID_10302
definition: A salivary gland cancer that is located_in the parotid gland.
database_cross_reference: ICD10CM:C07
database_cross_reference: ICD9CM:142.0
database_cross_reference: MESH:D010307
database_cross_reference: NCI:C3525
database_cross_reference: SNOMEDCT_US_2025_09_01:93949007
database_cross_reference: UMLS_CUI:C0747273
has_exact_synonym: cancer of parotid gland
has_exact_synonym: malignant neoplasm of the Parotid
has_exact_synonym: malignant tumor of parotid gland
has_exact_synonym: parotid cancer
has_obo_namespace: disease_ontology
id: DOID:9036
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001831

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Parotid_gland
annotated property: definition
annotated source: parotid gland adenoid cystic carcinoma
annotated target: 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.

lung mucoepidermoid carcinoma
type: Class
subclass of: lung carcinoma
definition: A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells.
creation_date: 2014-10-21T15:13:36Z
has_obo_namespace: disease_ontology
id: DOID:0050932
in_subset: DO_cancer_slim

lung carcinoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: carcinoma
subclass of: DOID 1324
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000066
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000178
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000517
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000576
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000614
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020031
definition: 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.
database_cross_reference: EFO:0001071
database_cross_reference: NCI:C4878
database_cross_reference: SNOMEDCT_US_2025_09_01:154485001
database_cross_reference: UMLS_CUI:C0684249
has_exact_synonym: cancer of lung
has_obo_namespace: disease_ontology
has_related_synonym: carcinoma of lung
id: DOID:3905
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma
annotated property: definition
annotated source: lung mucoepidermoid carcinoma
annotated target: A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells.

ovarian serous carcinoma
type: Class
subclass of: ovarian carcinoma
definition: An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
creation_date: 2014-10-21T15:51:41Z
has_obo_namespace: disease_ontology
id: DOID:0050933
in_subset: DO_cancer_slim

ovarian carcinoma
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: DOID 2151
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000066
definition: An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.
database_cross_reference: EFO:0001075
has_obo_namespace: disease_ontology
id: DOID:4001
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Serous_carcinoma
annotated property: definition
annotated source: ovarian serous carcinoma
annotated target: An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.

ovarian clear cell carcinoma
type: Class
subclass of: ovarian carcinoma
definition: An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
creation_date: 2014-10-21T15:54:52Z
has_exact_synonym: clear-cell ovarian carcinoma
has_obo_namespace: disease_ontology
id: DOID:0050934
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma
annotated property: definition
annotated source: ovarian clear cell carcinoma
annotated target: An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.

cervical neuroblastoma
type: Class
subclass of: extracranial neuroblastoma
definition: An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
creation_date: 2014-10-21T16:02:01Z
database_cross_reference: NCI:C213638
database_cross_reference: UMLS_CUI:C5985049
has_obo_namespace: disease_ontology
id: DOID:0050935
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

extracranial neuroblastoma
type: Class
subclass of: DOID 769
database_cross_reference: NCI:C5437
has_obo_namespace: disease_ontology
id: DOID:371
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Neuroblastoma
database_cross_reference: url:http://link.springer.com/article/10.1007%2Fs12070-007-0083-5
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15390353
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9262064
annotated property: definition
annotated source: cervical neuroblastoma
annotated target: An extracranial neuroblastoma that has_material_basis_in immature nerve cells.

extra-adrenal pheochromocytoma
type: Class
subclass of: malignant pheochromocytoma
definition: A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
creation_date: 2014-10-22T10:25:45Z
has_obo_namespace: disease_ontology
id: DOID:0050936
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pheochromocytoma
annotated property: definition
annotated source: extra-adrenal pheochromocytoma
annotated target: 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
type: Class
subclass of: retroperitoneal cancer
definition: A retroperitoneal cancer that has_material_basis_in immature nerve cells.
creation_date: 2014-10-22T11:18:01Z
has_obo_namespace: disease_ontology
id: DOID:0050937
in_subset: DO_cancer_slim

retroperitoneal cancer
type: Class
subclass of: DOID 5093
definition: A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum.
has_alternative_id: DOID:12340
has_alternative_id: DOID:9860
database_cross_reference: ICD10CM:C48
database_cross_reference: ICD10CM:C48.0
database_cross_reference: ICD9CM:158
database_cross_reference: ICD9CM:158.0
database_cross_reference: MESH:D012186
database_cross_reference: NCI:C3357
database_cross_reference: NCI:C3537
database_cross_reference: SNOMEDCT_US_2025_09_01:187801002
database_cross_reference: SNOMEDCT_US_2025_09_01:254617008
database_cross_reference: SNOMEDCT_US_2025_09_01:363420003
database_cross_reference: UMLS_CUI:C0035358
database_cross_reference: UMLS_CUI:C0153464
database_cross_reference: UMLS_CUI:C0153465
has_exact_synonym: malignant neoplasm of retroperitoneum and peritoneum
has_exact_synonym: malignant tumor of peritoneum and retroperitoneum
has_exact_synonym: neoplasm of retroperitoneum
has_exact_synonym: neoplasm of the retroperitoneum
has_exact_synonym: retroperitoneal neoplasm
has_exact_synonym: tumor of retroperitoneum
has_obo_namespace: disease_ontology
has_related_synonym: malignant neoplasm of retroperitoneum
has_related_synonym: malignant retroperitoneal cancer
id: DOID:5875
in_subset: DO_MGI_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0003693

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Neuroblastoma
database_cross_reference: url:http://en.wiktionary.org/wiki/retroperitoneal
annotated property: definition
annotated source: retroperitoneal neuroblastoma
annotated target: A retroperitoneal cancer that has_material_basis_in immature nerve cells.

breast lobular carcinoma
type: Class
subclass of: breast carcinoma
definition: A breast carcinoma that derives_from breast lobules (milk glands).
creation_date: 2014-10-22T13:05:34Z
database_cross_reference: ICDO:8520/3
database_cross_reference: NCI:C3771
has_obo_namespace: disease_ontology
id: DOID:0050938
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

breast carcinoma
type: Class
subclass of: breast cancer
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000310
definition: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
database_cross_reference: MESH:D001943
database_cross_reference: EFO:0000305
database_cross_reference: NCI:C4872
database_cross_reference: SNOMEDCT_US_2025_09_01:154513000
database_cross_reference: UMLS_CUI:C0678222
has_exact_synonym: Mammary carcinoma
has_exact_synonym: carcinoma of breast
has_obo_namespace: disease_ontology
id: DOID:3459
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/breastlobular
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=426416
annotated property: definition
annotated source: breast lobular carcinoma
annotated target: A breast carcinoma that derives_from breast lobules (milk glands).

uterine corpus endometrial carcinoma
type: Class
subclass of: uterine corpus cancer
definition: A uterine corpus cancer that is derives_from the inner lining of the uterus.
creation_date: 2014-10-22T14:26:22Z
has_obo_namespace: disease_ontology
id: DOID:0050939
in_subset: DO_cancer_slim

uterine corpus cancer
type: Class
subclass of: DOID 363
definition: A uterine cancer that is located_in the uterine corpus.
database_cross_reference: ICD10CM:C54
database_cross_reference: ICD9CM:182
database_cross_reference: NCI:C61574
database_cross_reference: SNOMEDCT_US_2025_09_01:93718007
database_cross_reference: UMLS_CUI:C0153574
has_exact_synonym: corpus uteri cancer
has_obo_namespace: disease_ontology
id: DOID:9460
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0009853

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/
annotated property: definition
annotated source: uterine corpus endometrial carcinoma
annotated target: A uterine corpus cancer that is derives_from the inner lining of the uterus.

endocervical adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: endocervical carcinoma
subclass of: Restriction
  on property: RO_0001000
  some values from: Class
    intersection of: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530
definition: An endocervical carcinoma that derives_from epithelial cells of glandular origin.
creation_date: 2014-10-24T15:51:48Z
has_obo_namespace: disease_ontology
id: DOID:0050940
in_subset: DO_cancer_slim

endocervical carcinoma
type: Class
subclass of: DOID 2893
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000458
definition: A cervix carcinoma that is located_in the endocervix.
database_cross_reference: SNOMEDCT_US_2025_09_01:372098004
database_cross_reference: UMLS_CUI:C1299237
has_exact_synonym: carcinoma of endocervix
has_exact_synonym: carcinoma of the Endocervix
has_obo_namespace: disease_ontology
id: DOID:7519

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12207781
annotated property: definition
annotated source: endocervical adenocarcinoma
annotated target: An endocervical carcinoma that derives_from epithelial cells of glandular origin.

spastic ataxia 2
type: Class
subclass of: autosomal recessive disease
subclass of: spastic ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: MIM:611302
has_obo_namespace: disease_ontology
id: DOID:0050941

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17273843
annotated property: definition
annotated source: spastic ataxia 2
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: spastic ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: MIM:611390
has_obo_namespace: disease_ontology
id: DOID:0050942

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22448145
annotated property: definition
annotated source: spastic ataxia 3
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: spastic ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: MIM:613672
has_obo_namespace: disease_ontology
id: DOID:0050943

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20970105
annotated property: definition
annotated source: spastic ataxia 4
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: spastic ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: MIM:614487
has_obo_namespace: disease_ontology
id: DOID:0050944

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22022284
annotated property: definition
annotated source: spastic ataxia 5
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: spastic ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: MIM:108650
has_obo_namespace: disease_ontology
id: DOID:0050945

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6821680
annotated property: definition
annotated source: spastic ataxia 7
annotated target: A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.

Charlevoix-Saguenay spastic ataxia
type: Class
subclass of: autosomal recessive cerebellar ataxia
definition: 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.
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: GARD:4910
database_cross_reference: MESH:C536787
database_cross_reference: MIM:270550
has_obo_namespace: disease_ontology
id: DOID:0050946
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24384335
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26344561
database_cross_reference: url:https://www.omim.org/entry/270550
annotated property: definition
annotated source: Charlevoix-Saguenay spastic ataxia
annotated target: 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
type: Class
subclass of: rickets
subclass of: digenic disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000930
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: 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.
creation_date: 2015-10-01T12:10:26Z
database_cross_reference: MIM:241530
has_obo_namespace: disease_ontology
id: DOID:0050947

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.omim.org/entry/241530?search=241530&highlight=241530
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple
annotated property: definition
annotated source: hereditary hypophosphatemic rickets with hypercalciuria
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: rickets
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
creation_date: 2015-10-01T12:10:30Z
database_cross_reference: MIM:193100
has_obo_namespace: disease_ontology
id: DOID:0050948

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.omim.org/entry/193100?search=193100&highlight=193100
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26365554
annotated property: definition
annotated source: autosomal dominant hypophosphatemic rickets
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: rickets
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
creation_date: 2015-10-01T12:10:33Z
database_cross_reference: MIM:241520
database_cross_reference: MIM:613312
database_cross_reference: ORDO:289176
has_obo_namespace: disease_ontology
id: DOID:0050949
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.omim.org/entry/241520?search=241520&highlight=241520
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple
annotated property: definition
annotated source: autosomal recessive hypophosphatemic rickets
annotated target: 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.

Axiom
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138/
annotated property: definition
annotated source: autosomal recessive cerebellar ataxia
annotated target: A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.

Axiom
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138
annotated property: definition
annotated source: hereditary ataxia
annotated target: A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24384335
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26344561
annotated property: definition
annotated source: spastic ataxia
annotated target: A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/
annotated property: definition
annotated source: X-linked hereditary ataxia
annotated target: A hereditary ataxia that is characterized by X-linked inheritance.

spinocerebellar ataxia 1
type: Class
subclass of: autosomal dominant cerebellar ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: SO_0002165
definition: 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.
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: GARD:4071
database_cross_reference: MIM:164400
has_obo_namespace: disease_ontology
id: DOID:0050954
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1
annotated property: definition
annotated source: spinocerebellar ataxia 1
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: MIM:183090
has_obo_namespace: disease_ontology
id: DOID:0050955

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2
annotated property: definition
annotated source: spinocerebellar ataxia 2
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene.
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: GARD:10351
database_cross_reference: MIM:183086
has_obo_namespace: disease_ontology
id: DOID:0050956
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6
annotated property: definition
annotated source: spinocerebellar ataxia 6
annotated target: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene.

spinocerebellar ataxia 4
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: GARD:9970
database_cross_reference: MESH:D020754
database_cross_reference: MIM:600223
database_cross_reference: ORDO:98765
database_cross_reference: SNOMEDCT_US_2025_09_01:715755008
database_cross_reference: UMLS_CUI:C0752122
has_exact_synonym: SCA4
has_obo_namespace: disease_ontology
id: DOID:0050957
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/38035881/
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4
annotated property: definition
annotated source: spinocerebellar ataxia 4
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: spinocerebellar ataxia 4
annotated target: SCA4

spinocerebellar ataxia 7
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: MIM:164500
has_obo_namespace: disease_ontology
id: DOID:0050958

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7
annotated property: definition
annotated source: spinocerebellar ataxia 7
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: MIM:608768
has_obo_namespace: disease_ontology
id: DOID:0050959

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8
annotated property: definition
annotated source: spinocerebellar ataxia 8
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: GARD:10474
database_cross_reference: MIM:603516
has_obo_namespace: disease_ontology
id: DOID:0050960
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1175/
annotated property: definition
annotated source: spinocerebellar ataxia 10
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: MIM:604432
has_obo_namespace: disease_ontology
id: DOID:0050961

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11
annotated property: definition
annotated source: spinocerebellar ataxia 11
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: MIM:604326
has_obo_namespace: disease_ontology
id: DOID:0050962

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12
annotated property: definition
annotated source: spinocerebellar ataxia 12
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: MIM:605259
has_obo_namespace: disease_ontology
id: DOID:0050963

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13
annotated property: definition
annotated source: spinocerebellar ataxia 13
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: MIM:605361
has_obo_namespace: disease_ontology
id: DOID:0050964

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14
annotated property: definition
annotated source: spinocerebellar ataxia 14
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.
creation_date: 2015-10-05T16:12:39Z
has_alternative_id: DOID:0050966
database_cross_reference: MIM:606658
has_exact_synonym: spinocerebellar ataxia type 16
has_obo_namespace: disease_ontology
id: DOID:0050965

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15
annotated property: definition
annotated source: spinocerebellar ataxia 15
annotated target: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.

obsolete spinocerebellar ataxia type 16
type: Class
definition: 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.
creation_date: 2015-10-05T16:12:39Z
has_obo_namespace: disease_ontology
id: DOID:0050966
owl:deprecated: true

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615768
annotated property: definition
annotated source: obsolete spinocerebellar ataxia type 16
annotated target: 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
type: Class
subclass of: digenic disease
subclass of: autosomal dominant cerebellar ataxia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000930
definition: 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.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: GARD:10469
database_cross_reference: MIM:607136
has_obo_namespace: disease_ontology
id: DOID:0050967
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17
annotated property: definition
annotated source: spinocerebellar ataxia 17
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: GARD:12372
database_cross_reference: MIM:604121
has_obo_namespace: disease_ontology
id: DOID:0050968
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy
annotated property: definition
annotated source: autosomal dominant cerebellar ataxia, deafness and narcolepsy
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9976
database_cross_reference: MIM:607458
has_obo_namespace: disease_ontology
id: DOID:0050969
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18
annotated property: definition
annotated source: spinocerebellar ataxia 18
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:12365
database_cross_reference: MIM:607346
has_obo_namespace: disease_ontology
id: DOID:0050970
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22
annotated property: definition
annotated source: spinocerebellar ataxia 19/22
annotated target: An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.

spinocerebellar ataxia 20
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9997
database_cross_reference: MIM:608687
has_obo_namespace: disease_ontology
id: DOID:0050971
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20
annotated property: definition
annotated source: spinocerebellar ataxia 20
annotated target: An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.

spinocerebellar ataxia 21
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9999
database_cross_reference: MIM:607454
has_obo_namespace: disease_ontology
id: DOID:0050972
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21
annotated property: definition
annotated source: spinocerebellar ataxia 21
annotated target: An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.

spinocerebellar ataxia 23
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:610245
has_obo_namespace: disease_ontology
id: DOID:0050973

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23
annotated property: definition
annotated source: spinocerebellar ataxia 23
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9996
database_cross_reference: MESH:C537202
database_cross_reference: MIM:608703
has_obo_namespace: disease_ontology
id: DOID:0050974
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25
annotated property: definition
annotated source: spinocerebellar ataxia 25
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9995
database_cross_reference: MESH:C537203
database_cross_reference: MIM:609306
has_obo_namespace: disease_ontology
id: DOID:0050975
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26
annotated property: definition
annotated source: spinocerebellar ataxia 26
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
has_alternative_id: DOID:0111794
database_cross_reference: GARD:9603
database_cross_reference: MIM:193003
has_exact_synonym: SCA27A
has_exact_synonym: autosomal dominant congenital nystagmus 4
has_exact_synonym: congenital nystagmus 4
has_exact_synonym: spinocerebellar ataxia type 27
has_exact_synonym: vestibulocerebellar disorder with predominant ocular signs
has_obo_namespace: disease_ontology
id: DOID:0050976
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/32162847/
annotated property: definition
annotated source: spinocerebellar ataxia 27A
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: spinocerebellar ataxia 27A
annotated target: SCA27A

spinocerebellar ataxia 28
type: Class
subclass of: autosomal dominant cerebellar ataxia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000369
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:610246
has_obo_namespace: disease_ontology
id: DOID:0050977

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28
annotated property: definition
annotated source: spinocerebellar ataxia 28
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:117360
has_obo_namespace: disease_ontology
id: DOID:0050978

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29
annotated property: definition
annotated source: spinocerebellar ataxia 29
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:4950
database_cross_reference: MIM:613371
has_obo_namespace: disease_ontology
id: DOID:0050979
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613371
annotated property: definition
annotated source: spinocerebellar ataxia 30
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:117210
has_obo_namespace: disease_ontology
id: DOID:0050980

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31
annotated property: definition
annotated source: spinocerebellar ataxia 31
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:133190
has_obo_namespace: disease_ontology
id: DOID:0050981

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34
annotated property: definition
annotated source: spinocerebellar ataxia 34
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:613908
has_obo_namespace: disease_ontology
id: DOID:0050982

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613908
annotated property: definition
annotated source: spinocerebellar ataxia 35
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:614153
has_obo_namespace: disease_ontology
id: DOID:0050983

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36
annotated property: definition
annotated source: spinocerebellar ataxia 36
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:615945
has_obo_namespace: disease_ontology
id: DOID:0050984

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615945
annotated property: definition
annotated source: spinocerebellar ataxia 37
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:615957
has_obo_namespace: disease_ontology
id: DOID:0050985

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615957
annotated property: definition
annotated source: spinocerebellar ataxia 38
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: MIM:616053
has_obo_namespace: disease_ontology
id: DOID:0050986

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/616053
annotated property: definition
annotated source: spinocerebellar ataxia 40
annotated target: 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
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.
creation_date: 2015-10-06T16:24:06Z
has_obo_namespace: disease_ontology
id: DOID:0050987

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22232354
annotated property: definition
annotated source: hypomyelinating leukoencephalopathy
annotated target: An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.

GRID2-related spinocerebellar ataxia
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.
creation_date: 2015-10-06T16:24:06Z
has_obo_namespace: disease_ontology
id: DOID:0050988

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/
annotated property: definition
annotated source: GRID2-related spinocerebellar ataxia
annotated target: An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.

episodic ataxia type 1
type: Class
subclass of: episodic ataxia
definition: 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.
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MIM:160120
has_obo_namespace: disease_ontology
id: DOID:0050989

episodic ataxia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.
subclass of: hereditary ataxia
definition: A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
database_cross_reference: GARD:9851
database_cross_reference: MESH:C580065
database_cross_reference: ORDO:211062
database_cross_reference: SNOMEDCT_US_2025_09_01:421455009
database_cross_reference: UMLS_CUI:C1720189
has_exact_synonym: Isaacs syndrome
has_obo_namespace: disease_ontology
id: DOID:963
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/160120
annotated property: definition
annotated source: episodic ataxia type 1
annotated target: 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.

episodic ataxia type 2
type: Class
subclass of: episodic ataxia
definition: 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.
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MESH:C535506
database_cross_reference: MIM:108500
has_obo_namespace: disease_ontology
id: DOID:0050990

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/108500
annotated property: definition
annotated source: episodic ataxia type 2
annotated target: 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
type: Class
subclass of: episodic ataxia
definition: An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance.
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MIM:606554
has_obo_namespace: disease_ontology
id: DOID:0050991

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/606554
annotated property: definition
annotated source: episodic ataxia type 3
annotated target: 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
type: Class
subclass of: episodic ataxia
definition: An episodic ataxia that is characterized by vertigo and diplopia.
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MIM:606552
has_obo_namespace: disease_ontology
id: DOID:0050992

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/606552
annotated property: definition
annotated source: episodic ataxia type 4
annotated target: An episodic ataxia that is characterized by vertigo and diplopia.

episodic ataxia type 5
type: Class
subclass of: episodic ataxia
definition: 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.
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MIM:613855
has_obo_namespace: disease_ontology
id: DOID:0050993

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613855
annotated property: definition
annotated source: episodic ataxia type 5
annotated target: 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
type: Class
subclass of: episodic ataxia
definition: An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MIM:612656
has_obo_namespace: disease_ontology
id: DOID:0050994

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/612656
annotated property: definition
annotated source: episodic ataxia type 6
annotated target: 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
type: Class
subclass of: episodic ataxia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance.
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MIM:611907
has_obo_namespace: disease_ontology
id: DOID:0050995

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/611907
annotated property: definition
annotated source: episodic ataxia type 7
annotated target: An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance.

episodic ataxia type 8
type: Class
subclass of: episodic ataxia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
definition: 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.
creation_date: 2015-10-07T13:38:56Z
database_cross_reference: MIM:616055
has_obo_namespace: disease_ontology
id: DOID:0050996

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/616055
annotated property: definition
annotated source: episodic ataxia type 8
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
creation_date: 2015-10-07T13:48:09Z
database_cross_reference: GARD:1998
database_cross_reference: MIM:PS224050
database_cross_reference: ORDO:1766
database_cross_reference: SNOMEDCT_US_2025_09_01:213341009
database_cross_reference: UMLS_CUI:C0394006
has_exact_synonym: CAMRQ
has_exact_synonym: CAMRQ syndrome
has_exact_synonym: DES
has_exact_synonym: UTS
has_exact_synonym: Uner Tan syndrome
has_exact_synonym: cerebellar ataxia and mental retardation with or without quadrupedal locomotion
has_exact_synonym: cerebellar ataxia, mental retardation, and disequilibrium syndrome
has_exact_synonym: cerebellar ataxia, mental retardation, and dysequilibrium syndrome
has_obo_namespace: disease_ontology
has_related_synonym: disequilibrium syndrome
has_related_synonym: dysequilibrium syndrome
id: DOID:0050997
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/21885617/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/28013290/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/33981800/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/38109455/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/38581205/
annotated property: definition
annotated source: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
annotated target: A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
annotated target: CAMRQ

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
annotated target: DES

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
annotated target: UTS

nonprogressive cerebellar ataxia with mental retardation
type: Class
subclass of: autosomal dominant cerebellar ataxia
definition: 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.
creation_date: 2015-10-07T14:08:24Z
database_cross_reference: MIM:614756
has_obo_namespace: disease_ontology
id: DOID:0050998

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/614756
annotated property: definition
annotated source: nonprogressive cerebellar ataxia with mental retardation
annotated target: 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
type: Class
subclass of: autosomal recessive cerebellar ataxia
definition: 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.
creation_date: 2015-10-07T14:43:23Z
database_cross_reference: MIM:613728
has_exact_synonym: SCAR10
has_obo_namespace: disease_ontology
id: DOID:0050999

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613728
annotated property: definition
annotated source: autosomal recessive spinocerebellar ataxia 10
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: autosomal recessive spinocerebellar ataxia 10
annotated target: SCAR10

autoinflammatory disease
type: Class
subclass of: primary immunodeficiency disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0051000

primary immunodeficiency disease
type: Class
comment: Xref MGI.
subclass of: immune system disease
definition: 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.
database_cross_reference: ICD10CM:D84.9
database_cross_reference: ICD9CM:279.3
database_cross_reference: KEGG:05340
database_cross_reference: MESH:D007153
database_cross_reference: MIM:242850
database_cross_reference: MIM:PS300755
database_cross_reference: NCI:C39725
database_cross_reference: SNOMEDCT_US_2025_09_01:191005003
database_cross_reference: UMLS_CUI:C0021051
has_exact_synonym: hypoimmunity
has_exact_synonym: immune deficiency disorder
has_exact_synonym: immunodeficiency syndrome
has_obo_namespace: disease_ontology
id: DOID:612
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0002200
    some values from: HP_0010978

Axiom
database_cross_reference: url:https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/
annotated property: definition
annotated source: autoinflammatory disease
annotated target: 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.

congenital dyserythropoietic anemia type IIIb
type: Class
subclass of: autosomal recessive disease
subclass of: congenital dyserythropoietic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:619789
has_obo_namespace: disease_ontology
id: DOID:0051001

congenital dyserythropoietic anemia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: DOID 589
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: 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.
database_cross_reference: MESH:D000742
database_cross_reference: GARD:1999
database_cross_reference: ICD10CM:D64.4
database_cross_reference: MIM:PS224120
database_cross_reference: NCI:C84646
database_cross_reference: ORDO:85
database_cross_reference: SNOMEDCT_US_2025_09_01:191272005
database_cross_reference: UMLS_CUI:C0002876
has_exact_synonym: congenital dyshaematopoietic anaemia
has_obo_namespace: disease_ontology
id: DOID:1338
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/36200420/
annotated property: definition
annotated source: congenital dyserythropoietic anemia type IIIb
annotated target: 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 type IVb
type: Class
subclass of: congenital dyserythropoietic anemia
definition: 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.
database_cross_reference: MIM:620969
has_obo_namespace: disease_ontology
id: DOID:0051002

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/25724378/
annotated property: definition
annotated source: congenital dyserythropoietic anemia type IVb
annotated target: 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
type: Class
subclass of: X-linked monogenic disease
subclass of: congenital nonspherocytic hemolytic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: 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.
database_cross_reference: MIM:300908
has_obo_namespace: disease_ontology
id: DOID:0051003

congenital nonspherocytic hemolytic anemia
type: Class
comment: Xref MGI. OMIM mapping by NeuroDevNet. [LS].
subclass of: DOID 589
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
database_cross_reference: MESH:D000746
database_cross_reference: MIM:206300
database_cross_reference: MIM:206400
database_cross_reference: MIM:PS300908
database_cross_reference: ORDO:712
database_cross_reference: SNOMEDCT_US_2025_09_01:82775009
database_cross_reference: UMLS_CUI:C0002882
has_exact_synonym: HNSHA
has_exact_synonym: congenital nonspherocytic hemolytic anaemia
has_exact_synonym: hereditary nonspherocytic hemolytic anaemia
has_exact_synonym: hereditary nonspherocytic hemolytic anemia
has_obo_namespace: disease_ontology
id: DOID:2861
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18177777/
annotated property: definition
annotated source: congenital nonspherocytic hemolytic anemia 1
annotated target: 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.

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18177777/
annotated property: has_obo_namespace
annotated source: congenital nonspherocytic hemolytic anemia 1
annotated target: disease_ontology

congenital nonspherocytic hemolytic anemia 3
type: Class
subclass of: autosomal recessive disease
subclass of: congenital nonspherocytic hemolytic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34.
database_cross_reference: MIM:612631
has_obo_namespace: disease_ontology
id: DOID:0051004

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/10233365/
annotated property: definition
annotated source: congenital nonspherocytic hemolytic anemia 3
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital nonspherocytic hemolytic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.
database_cross_reference: MIM:613470
has_obo_namespace: disease_ontology
id: DOID:0051005

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/8218542/
annotated property: definition
annotated source: congenital nonspherocytic hemolytic anemia 4
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital nonspherocytic hemolytic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:235700
has_obo_namespace: disease_ontology
id: DOID:0051006

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/12393545/
annotated property: definition
annotated source: congenital nonspherocytic hemolytic anemia 5
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital nonspherocytic hemolytic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.
database_cross_reference: MIM:266120
has_obo_namespace: disease_ontology
id: DOID:0051007

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/11369620/
annotated property: definition
annotated source: congenital nonspherocytic hemolytic anemia 8
annotated target: 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
type: Class
subclass of: X-linked recessive disease
subclass of: congenital nonspherocytic hemolytic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.
database_cross_reference: MIM:301083
has_obo_namespace: disease_ontology
id: DOID:0051008

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35030251/
annotated property: definition
annotated source: congenital nonspherocytic hemolytic anemia 9
annotated target: 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
type: Class
subclass of: congenital nonspherocytic hemolytic anemia
definition: A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21.
database_cross_reference: MIM:618660
has_obo_namespace: disease_ontology
id: DOID:0051009

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/17185460/
annotated property: definition
annotated source: congenital nonspherocytic hemolytic anemia 10
annotated target: 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
type: Class
subclass of: autosomal dominant intellectual developmental disorder
definition: An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities.
database_cross_reference: MIM:PS619720
has_obo_namespace: disease_ontology
id: DOID:0051010

autosomal dominant intellectual developmental disorder
type: Class
comment: NT MGI.
subclass of: autosomal dominant disease
subclass of: intellectual disability
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A intellectual disability characterized by an autosomal dominant inheritance pattern.
creation_date: 2015-02-10T16:47:55Z
database_cross_reference: GARD:12107
database_cross_reference: MIM:PS156200
database_cross_reference: ORDO:178469
has_exact_synonym: autosomal dominant mental retardation
has_exact_synonym: autosomal dominant non-syndromic mental retardation
has_obo_namespace: disease_ontology
id: DOID:0060307
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK595206/
annotated property: definition
annotated source: Bryant-Li-Bhoj neurodevelopmental syndrome
annotated target: An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities.

Bryant-Li-Bhoj neurodevelopmental syndrome 1
type: Class
subclass of: Bryant-Li-Bhoj neurodevelopmental syndrome
definition: 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.
database_cross_reference: MIM:619720
has_obo_namespace: disease_ontology
id: DOID:0051011

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK595206/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/38678163/
annotated property: definition
annotated source: Bryant-Li-Bhoj neurodevelopmental syndrome 1
annotated target: 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
type: Class
subclass of: Bryant-Li-Bhoj neurodevelopmental syndrome
definition: 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.
database_cross_reference: MIM:619721
has_obo_namespace: disease_ontology
id: DOID:0051012

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK595206/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/38678163/
annotated property: definition
annotated source: Bryant-Li-Bhoj neurodevelopmental syndrome 2
annotated target: 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.

pseudohypoparathyroidism type 1C
type: Class
comment: PHP Ic appears to differ from PHP Ia (DOID:0080053) only in that patients retain erythrocyte Gs activity.
subclass of: pseudohypoparathyroidism
definition: A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.
database_cross_reference: GARD:10681
database_cross_reference: MIM:612462
database_cross_reference: ORDO:79444
has_exact_synonym: PHP Ic
has_obo_namespace: disease_ontology
id: DOID:0051013
in_subset: DO_rare_slim

pseudohypoparathyroidism
type: Class
subclass of: metal metabolism disorder
definition: 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.
database_cross_reference: SNOMEDCT_US_2025_09_01:190867002
database_cross_reference: GARD:10758
database_cross_reference: ICD10CM:E20.1
database_cross_reference: MESH:D011547
database_cross_reference: NCI:C99027
database_cross_reference: UMLS_CUI:C0033806
has_exact_synonym: PHP
has_obo_namespace: disease_ontology
id: DOID:4184
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18372789/
annotated property: definition
annotated source: pseudohypoparathyroidism type 1C
annotated target: A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: pseudohypoparathyroidism type 1C
annotated target: PHP Ic

atypical autosomal dominant adult-onset demyelinating leukodystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: adult onset demyelinating leukodystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: 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.
database_cross_reference: MIM:621061
has_obo_namespace: disease_ontology
id: DOID:0051014

adult onset demyelinating leukodystrophy
type: Class
subclass of: leukodystrophy
definition: A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.
database_cross_reference: MIM:PS169500
database_cross_reference: ORDO:99027
has_exact_synonym: Autosomal dominant leukodystrophy with autonomic disease
has_exact_synonym: autosomal dominant adult-onset demyelinating leukodystrophy
has_obo_namespace: disease_ontology
id: DOID:0051015
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/39078102/
annotated property: definition
annotated source: atypical autosomal dominant adult-onset demyelinating leukodystrophy
annotated target: 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.

leukodystrophy
type: Class
subclass of: DOID 1443
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001893
definition: A cerebral degeneration characterized by dysfunction of the white matter of the brain.
database_cross_reference: GARD:6895
database_cross_reference: ICD9CM:330.0
database_cross_reference: NCI:C61253
database_cross_reference: SNOMEDCT_US_2025_09_01:5101009
database_cross_reference: UMLS_CUI:C0023520
has_obo_namespace: disease_ontology
id: DOID:10579
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/
annotated property: definition
annotated source: adult onset demyelinating leukodystrophy
annotated target: A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.

visceral heterotaxy 1
type: Class
subclass of: X-linked recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: MIM:306955
has_obo_namespace: disease_ontology
id: DOID:0051016

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18456715/
annotated property: definition
annotated source: visceral heterotaxy 1
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21.
database_cross_reference: MIM:605376
has_obo_namespace: disease_ontology
id: DOID:0051017

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/11062482/
annotated property: definition
annotated source: visceral heterotaxy 2
annotated target: A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21.

visceral heterotaxy 3
type: Class
subclass of: visceral heterotaxy
definition: A visceral heterotaxy that has been mapped to chromosome 6q21.
database_cross_reference: MIM:606325
has_obo_namespace: disease_ontology
id: DOID:0051018

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/11562933/
annotated property: definition
annotated source: visceral heterotaxy 3
annotated target: A visceral heterotaxy that has been mapped to chromosome 6q21.

visceral heterotaxy 4
type: Class
subclass of: visceral heterotaxy
definition: A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22.
database_cross_reference: MIM:613751
has_obo_namespace: disease_ontology
id: DOID:0051019

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/9916847/
annotated property: definition
annotated source: visceral heterotaxy 4
annotated target: A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22.

visceral heterotaxy 6
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21.
database_cross_reference: MIM:614779
has_obo_namespace: disease_ontology
id: DOID:0051020

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/22577226/
annotated property: definition
annotated source: visceral heterotaxy 6
annotated target: A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21.

visceral heterotaxy 7
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:616749
has_obo_namespace: disease_ontology
id: DOID:0051021

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/26437028/
annotated property: definition
annotated source: visceral heterotaxy 7
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:617205
has_obo_namespace: disease_ontology
id: DOID:0051022

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/27616478/
annotated property: definition
annotated source: visceral heterotaxy 8
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:618948
has_obo_namespace: disease_ontology
id: DOID:0051023

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/31534215/
annotated property: definition
annotated source: visceral heterotaxy 9
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:619607
has_obo_namespace: disease_ontology
id: DOID:0051024

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/33139725/
annotated property: definition
annotated source: visceral heterotaxy 10
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:619608
has_obo_namespace: disease_ontology
id: DOID:0051025

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/33139725/
annotated property: definition
annotated source: visceral heterotaxy 11
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:619702
has_obo_namespace: disease_ontology
id: DOID:0051026

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/33139725/
annotated property: definition
annotated source: visceral heterotaxy 12
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: visceral heterotaxy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:621079
has_exact_synonym: HTX13
has_obo_namespace: disease_ontology
id: DOID:0051027

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/36316122/
annotated property: definition
annotated source: visceral heterotaxy 13
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: visceral heterotaxy 13
annotated target: HTX13

autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis
type: Class
subclass of: autosomal recessive disease
subclass of: Charcot-Marie-Tooth disease type 4
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:607706
has_obo_namespace: disease_ontology
id: DOID:0051028

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/15358725/
annotated property: definition
annotated source: autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis
annotated target: 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
type: Class
subclass of: mitochondrial DNA depletion syndrome
definition: 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.
database_cross_reference: MIM:621071
has_obo_namespace: disease_ontology
id: DOID:0051029

mitochondrial DNA depletion syndrome
type: Class
subclass of: mitochondrial metabolism disease
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0030059
definition: 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.
database_cross_reference: GARD:13643
database_cross_reference: MIM:PS603041
database_cross_reference: ORDO:35698
has_exact_synonym: mtDNA depletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0070329
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/39230499/
annotated property: definition
annotated source: mitochondrial DNA depletion syndrome-21
annotated target: 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.

neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
type: Class
subclass of: autosomal recessive intellectual developmental disorder
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:621060
has_exact_synonym: NEDMISH
has_obo_namespace: disease_ontology
id: DOID:0051030

autosomal recessive intellectual developmental disorder
type: Class
comment: NT MGI.
subclass of: autosomal recessive disease
subclass of: intellectual disability
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A intellectual disability characterized by an autosomal recessive inheritance pattern.
creation_date: 2015-02-11T10:32:11Z
database_cross_reference: MIM:PS249500
database_cross_reference: ORDO:88616
has_exact_synonym: autosomal recessive mental retardation
has_exact_synonym: autosomal recessive non-syndromic mental retardation
has_obo_namespace: disease_ontology
id: DOID:0060308
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/39306721/
annotated property: definition
annotated source: neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
annotated target: NEDMISH

primary autosomal recessive microcephaly 20
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31.
database_cross_reference: MIM:617914
has_obo_namespace: disease_ontology
id: DOID:0051031

autosomal recessive primary microcephaly
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0070297
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:12117
database_cross_reference: ORDO:2512
has_exact_synonym: MCPH
has_obo_namespace: disease_ontology
id: DOID:0070296
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/29343805/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 20
annotated target: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31.

primary autosomal recessive microcephaly 21
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13.
database_cross_reference: MIM:617983
has_obo_namespace: disease_ontology
id: DOID:0051032

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35568357/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 21
annotated target: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13.

primary autosomal recessive microcephaly 22
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25.
database_cross_reference: MIM:617984
has_obo_namespace: disease_ontology
id: DOID:0051033

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/27737959/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 22
annotated target: 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
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11.
database_cross_reference: MIM:617985
has_obo_namespace: disease_ontology
id: DOID:0051034

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/27737959/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 23
annotated target: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11.

primary autosomal recessive microcephaly 24
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23.
database_cross_reference: MIM:618179
has_obo_namespace: disease_ontology
id: DOID:0051035

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/30179222/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 24
annotated target: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23.

primary autosomal recessive microcephaly 25
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22.
database_cross_reference: MIM:618351
has_obo_namespace: disease_ontology
id: DOID:0051036

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/30715179/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 25
annotated target: A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22.

autosomal dominant primary microcephaly 26
type: Class
subclass of: autosomal dominant primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:619179
has_obo_namespace: disease_ontology
id: DOID:0051037

autosomal dominant primary microcephaly
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_0070297
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: GARD:3605
database_cross_reference: ORDO:2514
has_obo_namespace: disease_ontology
id: DOID:0061100
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/32910914/
annotated property: definition
annotated source: autosomal dominant primary microcephaly 26
annotated target: 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 27
type: Class
subclass of: autosomal dominant primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:619180
has_obo_namespace: disease_ontology
id: DOID:0051038

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/33033404/
annotated property: definition
annotated source: autosomal dominant primary microcephaly 27
annotated target: 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
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:619453
has_obo_namespace: disease_ontology
id: DOID:0051039

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/33199730/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 28
annotated target: 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
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620047
has_obo_namespace: disease_ontology
id: DOID:0051040

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/32286682/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 29
annotated target: 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
type: Class
subclass of: autosomal recessive primary microcephaly
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620183
has_obo_namespace: disease_ontology
id: DOID:0051041

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35044816/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 30
annotated target: 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
type: Class
subclass of: autosomal dominant distal hereditary motor neuronopathy
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: 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.
database_cross_reference: MIM:621094
has_obo_namespace: disease_ontology
id: DOID:0051042

autosomal dominant distal hereditary motor neuronopathy
type: Class
subclass of: autosomal dominant disease
subclass of: spinal muscular atrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002257
definition: 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.
database_cross_reference: MIM:PS182960
database_cross_reference: ORDO:140465
has_exact_synonym: autosomal dominant dHMN
has_exact_synonym: autosomal dominant distal hereditary motor neuropathy
has_exact_synonym: autosomal dominant distal spinal muscular atrophy
has_obo_namespace: disease_ontology
id: DOID:0111198
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/37907725/
annotated property: definition
annotated source: autosomal dominant distal hereditary motor neuronopathy 15
annotated target: 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.

Charcot-Marie-Tooth disease axonal type 2JJ
type: Class
subclass of: autosomal dominant disease
subclass of: Charcot-Marie-Tooth disease type 2
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: 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.
database_cross_reference: MIM:621095
has_exact_synonym: axonal Charcot-Marie-Tooth disease type 2JJ
has_obo_namespace: disease_ontology
id: DOID:0051043

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/31853710/
annotated property: definition
annotated source: Charcot-Marie-Tooth disease axonal type 2JJ
annotated target: 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.

infantile-onset myofibrillar myopathy 12 with cardiomyopathy
type: Class
subclass of: autosomal recessive disease
subclass of: myofibrillar myopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001133
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001134
definition: 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.
database_cross_reference: MIM:619424
has_obo_namespace: disease_ontology
id: DOID:0051044

myofibrillar myopathy
type: Class
subclass of: myopathy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000363
definition: A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.
database_cross_reference: GARD:10529
database_cross_reference: MESH:C580316
database_cross_reference: MIM:PS601419
has_obo_namespace: disease_ontology
id: DOID:0080307
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/23365102/
annotated property: definition
annotated source: infantile-onset myofibrillar myopathy 12 with cardiomyopathy
annotated target: 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 13 with rimmed vacuoles
type: Class
subclass of: autosomal dominant disease
subclass of: myofibrillar myopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:621078
has_obo_namespace: disease_ontology
id: DOID:0051045

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/31403083/
annotated property: definition
annotated source: myofibrillar myopathy 13 with rimmed vacuoles
annotated target: 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
type: Class
subclass of: spondyloepimetaphyseal dysplasia
definition: 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.
database_cross_reference: MIM:621099
has_obo_namespace: disease_ontology
id: DOID:0051046

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/39414788/
annotated property: definition
annotated source: spondyloepimetaphyseal dysplasia, Li-Shao-Li type
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital disorder of glycosylation type II
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620546
has_obo_namespace: disease_ontology
id: DOID:0051047

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/37711075/
annotated property: definition
annotated source: congenital disorder of glycosylation type IIbb
annotated target: 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
type: Class
subclass of: X-linked recessive disease
subclass of: congenital disorder of glycosylation type II
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: MIM:301045
has_obo_namespace: disease_ontology
id: DOID:0051048

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/29127204/
annotated property: definition
annotated source: congenital disorder of glycosylation type IIr
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital disorder of glycosylation type II
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:618885
has_obo_namespace: disease_ontology
id: DOID:0051049

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/32293671/
annotated property: definition
annotated source: congenital disorder of glycosylation type IIt
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital disorder of glycosylation type II
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:619493
has_obo_namespace: disease_ontology
id: DOID:0051050

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/34143952/
annotated property: definition
annotated source: congenital disorder of glycosylation type IIv
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: congenital disorder of glycosylation type II
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:619525
has_obo_namespace: disease_ontology
id: DOID:0051051

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/33964207/
annotated property: definition
annotated source: congenital disorder of glycosylation type IIw
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital disorder of glycosylation type II
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620200
has_obo_namespace: disease_ontology
id: DOID:0051052

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/32395830/
annotated property: definition
annotated source: congenital disorder of glycosylation type IIy
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: congenital disorder of glycosylation type II
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620201
has_obo_namespace: disease_ontology
id: DOID:0051053

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35262690/
annotated property: definition
annotated source: congenital disorder of glycosylation type IIz
annotated target: 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
type: Class
subclass of: congenital heart disease
definition: 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.
database_cross_reference: MESH:D001017
database_cross_reference: MIM:120000
database_cross_reference: NCI:C84567
has_obo_namespace: disease_ontology
id: DOID:0051054
in_subset: NCIthesaurus

congenital heart disease
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: heart disease
subclass of: physical disorder
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000948
definition: A physical disorder that is characterized by problems with the heart's structure that are present at birth.
database_cross_reference: ICD10CM:Q24.9
database_cross_reference: ICD9CM:746.9
database_cross_reference: MESH:D006330
database_cross_reference: NCI:C34666
database_cross_reference: SNOMEDCT_US_2025_09_01:268315002
database_cross_reference: UMLS_CUI:C0018798
has_exact_synonym: Congenital Heart Defects
has_exact_synonym: Congenital anomaly of heart
has_exact_synonym: Heart Malformation
has_exact_synonym: congenital heart defect
has_exact_synonym: heart defect
has_obo_namespace: disease_ontology
has_related_synonym: Heart-congenital defect
id: DOID:1682
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://medlineplus.gov/ency/article/000191.htm
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/38416090/
database_cross_reference: url:https://www.annalsthoracicsurgery.org/article/S0003-4975(24)00077-8/fulltext
database_cross_reference: url:https://www.mayoclinic.org/diseases-conditions/coarctation-of-the-aorta/symptoms-causes/syc-20352529
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK430913/
database_cross_reference: url:https://www.nyp.org/pediatrics/heart/coarctation-of-aorta
annotated property: definition
annotated source: coarctation of the aorta
annotated target: 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.

46,XY gonadal dysgenesis with minifascicular neuropathy
type: Class
subclass of: gonadal dysgenesis
definition: A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH).
database_cross_reference: MIM:607080
has_obo_namespace: disease_ontology
id: DOID:0051055

gonadal dysgenesis
type: Class
subclass of: DOID 1923
definition: A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
database_cross_reference: GARD:2538
database_cross_reference: ICD9CM:758.6
database_cross_reference: MESH:D006059
database_cross_reference: NCI:C61420
database_cross_reference: SNOMEDCT_US_2025_09_01:268356004
database_cross_reference: UMLS_CUI:C0018051
has_exact_synonym: Gonadal dysgenesis syndrome
has_obo_namespace: disease_ontology
id: DOID:14447
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/10483790/
annotated property: definition
annotated source: 46,XY gonadal dysgenesis with minifascicular neuropathy
annotated target: A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH).

immunodeficiency 113
type: Class
subclass of: autosomal recessive disease
subclass of: primary immunodeficiency disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
definition: 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.
database_cross_reference: MIM:620565
has_obo_namespace: disease_ontology
id: DOID:0051056

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/37349293/
annotated property: definition
annotated source: immunodeficiency 113
annotated target: 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
type: Class
subclass of: eating disorder
definition: 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.
has_exact_synonym: ARFID
has_obo_namespace: disease_ontology
id: DOID:0051057

eating disorder
type: Class
subclass of: disease of mental health
definition: 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.
database_cross_reference: ICD10CM:F50
database_cross_reference: ICD9CM:307.50
database_cross_reference: MESH:D001068
database_cross_reference: NCI:C89332
database_cross_reference: SNOMEDCT_US_2025_09_01:72366004
database_cross_reference: UMLS_CUI:C0013473
has_obo_namespace: disease_ontology
id: DOID:8670
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://acamh.onlinelibrary.wiley.com/doi/10.1111/jcpp.70029
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/40568462/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/40690322/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/40791012/
annotated property: definition
annotated source: avoidant/restrictive food intake disorder
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: avoidant/restrictive food intake disorder
annotated target: ARFID

acute calcific periarthritis
type: Class
subclass of: periarthritis
definition: A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.
has_obo_namespace: disease_ontology
id: DOID:0051058

periarthritis
type: Class
subclass of: DOID 848
definition: An arthritis that is characterized by inflammation of the tissues surrounding a joint. It is a common cause of joint pain and stiffness.
database_cross_reference: ICD10CM:M77.9
database_cross_reference: MESH:D010489
database_cross_reference: SNOMEDCT_US_2025_09_01:50921008
database_cross_reference: UMLS_CUI:C0031037
has_obo_namespace: disease_ontology
id: DOID:2964

Axiom
database_cross_reference: url:https://radiopaedia.org/articles/acute-calcific-periarthritis?lang=us
annotated property: definition
annotated source: acute calcific periarthritis
annotated target: A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.

autosomal recessive Segawa syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: dystonia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:605407
database_cross_reference: ORDO:101150
has_exact_synonym: autosomal recessive DOPA-responsive dystonia
has_obo_namespace: disease_ontology
id: DOID:0051059
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/22815559/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/36568392/
annotated property: definition
annotated source: autosomal recessive Segawa syndrome
annotated target: 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.

frontotemporal dementia 1
type: Class
subclass of: frontotemporal dementia
definition: A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21.
database_cross_reference: MESH:C563003
database_cross_reference: MIM:600274
has_obo_namespace: disease_ontology
id: DOID:0051060

frontotemporal dementia
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: brain disease
subclass of: DOID 1307
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000955
definition: 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.
database_cross_reference: MESH:C563003
database_cross_reference: GARD:8436
database_cross_reference: ORDO:282
database_cross_reference: SNOMEDCT_US_2025_09_01:42369001
database_cross_reference: UMLS_CUI:C0520716
has_exact_synonym: Wilhemsen-Lynch disease
has_exact_synonym: frontotemporal lobar degeneration
has_exact_synonym: multiple system tauopathy with presenile dementia
has_exact_synonym: pallidopontonigral degeneration
has_obo_namespace: disease_ontology
id: DOID:9255
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1505/
annotated property: definition
annotated source: frontotemporal dementia 1
annotated target: A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21.

stroke
type: Class
subclass of: cerebrovascular disease
definition: 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.
has_obo_namespace: disease_ontology
has_related_synonym: cerebrovascular accident
id: DOID:0051061

cerebrovascular disease
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: brain disease
subclass of: vascular disease
definition: An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
has_alternative_id: DOID:12214
has_alternative_id: DOID:3455
has_alternative_id: DOID:8231
database_cross_reference: EFO:0000712
database_cross_reference: ICD10CM:I67.9
database_cross_reference: ICD9CM:437.9
database_cross_reference: MESH:D002561
database_cross_reference: NCI:C2938
database_cross_reference: SNOMEDCT_US_2025_09_01:266312006
database_cross_reference: UMLS_CUI:C0007820
has_exact_synonym: cerebrovascular disorder
has_obo_namespace: disease_ontology
id: DOID:6713
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: vascular disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000955

Axiom
database_cross_reference: url:https://medlineplus.gov/stroke.html
database_cross_reference: url:https://www.nhlbi.nih.gov/health/stroke
annotated property: definition
annotated source: stroke
annotated target: 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.

ischemic stroke
type: Class
subclass of: stroke
definition: A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain.
has_obo_namespace: disease_ontology
id: DOID:0051062

Axiom
database_cross_reference: url:https://www.nhlbi.nih.gov/health/stroke
annotated property: definition
annotated source: ischemic stroke
annotated target: A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain.

hemorrhagic stroke
type: Class
subclass of: stroke
definition: A stroke that is characterized by sudden bleeding in the brain.
has_obo_namespace: disease_ontology
id: DOID:0051063

Axiom
database_cross_reference: url:https://www.nhlbi.nih.gov/health/stroke
annotated property: definition
annotated source: hemorrhagic stroke
annotated target: A stroke that is characterized by sudden bleeding in the brain.

left ventricular failure
type: Class
subclass of: congestive heart failure
definition: A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.
has_exact_synonym: Left heart failure
has_exact_synonym: left ventricular dysfunction
has_obo_namespace: disease_ontology
id: DOID:0051064

congestive heart failure
type: Class
subclass of: heart disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000292
definition: 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.
has_alternative_id: DOID:395
database_cross_reference: ICD10CM:I50
database_cross_reference: ICD10CM:I50.9
database_cross_reference: ICD9CM:428
database_cross_reference: ICD9CM:428.0
database_cross_reference: MESH:D006333
database_cross_reference: NCI:C3080
database_cross_reference: NCI:C50577
database_cross_reference: SNOMEDCT_US_2025_09_01:155374007
database_cross_reference: SNOMEDCT_US_2025_09_01:195108009
database_cross_reference: UMLS_CUI:C0018801
database_cross_reference: UMLS_CUI:C0018802
has_exact_synonym: CHF
has_exact_synonym: Cardiac Failure Congestive
has_exact_synonym: Congestive heart disease
has_exact_synonym: Weak heart
has_obo_namespace: disease_ontology
id: DOID:6000
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK537098/
annotated property: definition
annotated source: left ventricular failure
annotated target: A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.

chronic pancreatitis
type: Class
subclass of: pancreatitis
definition: A pancreatitis that is characterized by long-term inflamation of the pancreas.
has_obo_namespace: disease_ontology
id: DOID:0051065

pancreatitis
type: Class
subclass of: pancreas disease
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001264
definition: A pancreas disease that is characterized by inflammation of the pancreas.
database_cross_reference: MESH:D010195
database_cross_reference: EFO:0000278
database_cross_reference: ICD10CM:K85.9
database_cross_reference: MIM:167800
database_cross_reference: NCI:C3306
database_cross_reference: SNOMEDCT_US_2025_09_01:393591004
database_cross_reference: UMLS_CUI:C0030305
has_obo_namespace: disease_ontology
id: DOID:4989
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://medlineplus.gov/ency/article/000221.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK482325/
annotated property: definition
annotated source: chronic pancreatitis
annotated target: A pancreatitis that is characterized by long-term inflamation of the pancreas.

arterionephrosclerosis
type: Class
subclass of: chronic kidney disease
definition: A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.
has_obo_namespace: disease_ontology
id: DOID:0051066

chronic kidney disease
type: Class
subclass of: DOID 1074
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012212
definition: 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).
database_cross_reference: ICD9CM:585.6
database_cross_reference: ICD10CM:N18.9
database_cross_reference: MESH:D007676
database_cross_reference: NCI:C9438
database_cross_reference: SNOMEDCT_US_2025_09_01:155856009
database_cross_reference: UMLS_CUI:C0022661
has_exact_synonym: CKD
has_exact_synonym: CRF
has_exact_synonym: chronic kidney failure
has_exact_synonym: chronic renal disease
has_exact_synonym: chronic renal failure syndrome
has_exact_synonym: renal failure - chronic
has_obo_namespace: disease_ontology
id: DOID:784
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5012291
database_cross_reference: url:https://www.pathologyoutlines.com/topic/kidneyarterionephrosclerosis.html
annotated property: definition
annotated source: arterionephrosclerosis
annotated target: A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.

Fontaine progeroid syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: progeroid syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:612289
database_cross_reference: ORDO:2095
database_cross_reference: ORDO:2963
database_cross_reference: ORDO:697101
has_exact_synonym: Gorlin-Chaudhry-Moss syndrome
has_exact_synonym: Progeroid Syndrome, Congenital, Petty Type
has_obo_namespace: disease_ontology
id: DOID:0051067
in_subset: DO_rare_slim

progeroid syndrome
type: Class
subclass of: syndrome
definition: A syndrome that is characterized by the premature onset of age-related pathologies.
database_cross_reference: MIM:PS176670
has_exact_synonym: progeroid disease
has_exact_synonym: progeroid syndromes
has_obo_namespace: disease_ontology
id: DOID:0081332
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0002200
    some values from: HP_0007495

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35679445/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK581082/
annotated property: definition
annotated source: Fontaine progeroid syndrome
annotated target: 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.

early-onset obesity, adrenal insufficiency, and red hair
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:10823
database_cross_reference: MIM:609734
has_exact_synonym: POMC deficiency
has_exact_synonym: pro-opiomelanocortin deficiency
has_exact_synonym: proopiomelanocortin deficiency syndrome
has_obo_namespace: disease_ontology
id: DOID:0051068
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/27468060/
annotated property: definition
annotated source: early-onset obesity, adrenal insufficiency, and red hair
annotated target: 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.

Meier-Gorlin syndrome 9
type: Class
subclass of: autosomal recessive disease
subclass of: Meier-Gorlin syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:621512
has_obo_namespace: disease_ontology
id: DOID:0051069

Meier-Gorlin syndrome
type: Class
comment: NT MGI.
subclass of: syndrome
definition: 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.
creation_date: 2015-02-10T12:40:39Z
database_cross_reference: GARD:2033
database_cross_reference: MESH:C538012
database_cross_reference: MIM:PS224690
database_cross_reference: ORDO:2554
database_cross_reference: SNOMEDCT_US_2025_09_01:703508009
database_cross_reference: UMLS_CUI:C1868684
has_exact_synonym: ear-patella-short stature syndrome
has_obo_namespace: disease_ontology
id: DOID:0060306
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35603789/
annotated property: definition
annotated source: Meier-Gorlin syndrome 9
annotated target: 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 10
type: Class
subclass of: autosomal recessive disease
subclass of: Meier-Gorlin syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:621528
has_obo_namespace: disease_ontology
id: DOID:0051070

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/31784481/
annotated property: definition
annotated source: Meier-Gorlin syndrome 10
annotated target: 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
type: Class
subclass of: autosomal recessive intellectual developmental disorder
definition: 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.
database_cross_reference: MIM:621533
has_obo_namespace: disease_ontology
id: DOID:0051071

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/41643666/
annotated property: definition
annotated source: neurodevelopmental disorder with seizures and impaired intellectual and language development
annotated target: 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
type: Class
subclass of: autosomal dominant intellectual developmental disorder
definition: 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.
database_cross_reference: MIM:621525
has_exact_synonym: NDCCA
has_obo_namespace: disease_ontology
id: DOID:0051072

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/41349538/
annotated property: definition
annotated source: neurodegenerative disorder with cerebellar and caudate atrophy
annotated target: 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.

dilated cardiomyopathy 3C
type: Class
subclass of: X-linked monogenic disease
subclass of: dilated cardiomyopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: 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.
database_cross_reference: MIM:301163
has_obo_namespace: disease_ontology
id: DOID:0051073

dilated cardiomyopathy
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
subclass of: intrinsic cardiomyopathy
definition: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
database_cross_reference: ICD10CM:I42.0
database_cross_reference: EFO:0000407
database_cross_reference: GARD:221
database_cross_reference: KEGG:05414
database_cross_reference: MESH:D002311
database_cross_reference: MIM:PS115200
database_cross_reference: NCI:C84673
database_cross_reference: ORDO:217604
database_cross_reference: SNOMEDCT_US_2025_09_01:74368002
database_cross_reference: UMLS_CUI:C0007193
has_exact_synonym: primary dilated cardiomyopathy
has_obo_namespace: disease_ontology
has_related_synonym: Congestive cardiomyopathy
has_related_synonym: Familial dilated cardiomyopathy
has_related_synonym: Idiopathic dilation cardiomyopathy
id: DOID:12930
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/40065010/
annotated property: definition
annotated source: dilated cardiomyopathy 3C
annotated target: 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.

primary autosomal recessive microcephaly 31
type: Class
subclass of: autosomal recessive primary microcephaly
definition: 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.
database_cross_reference: MIM:621507
has_obo_namespace: disease_ontology
id: DOID:0051074

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/40210435/
annotated property: definition
annotated source: primary autosomal recessive microcephaly 31
annotated target: 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
type: Class
subclass of: aggressive periodontitis
definition: An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25.
database_cross_reference: MIM:608526
has_obo_namespace: disease_ontology
id: DOID:0051075

aggressive periodontitis
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: DOID 824
definition: 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.
database_cross_reference: ICD10CM:K05.2
database_cross_reference: MESH:D010520
database_cross_reference: MIM:PS170650
database_cross_reference: SNOMEDCT_US_2025_09_01:449908004
database_cross_reference: UMLS_CUI:C0031106
has_obo_namespace: disease_ontology
id: DOID:1474

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/14673644/
annotated property: definition
annotated source: aggressive periodontitis 2
annotated target: An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25.

neurodevelopmental disorder with parkinsonism or other movement abnormalities
type: Class
subclass of: autosomal recessive intellectual developmental disorder
definition: 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.
database_cross_reference: MIM:621506
has_exact_synonym: NEDPAM
has_obo_namespace: disease_ontology
id: DOID:0051076

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/41053928/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK584989/
annotated property: definition
annotated source: neurodevelopmental disorder with parkinsonism or other movement abnormalities
annotated target: 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.

diethylstilbestrol syndrome
type: Class
subclass of: reproductive system disease
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_41922
subclass of: Restriction
  on property: RO_0007001
  some values from: DISDRIV_0000006
definition: 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.
database_cross_reference: ICD10CM:Q86.8
database_cross_reference: ICD11:LB44.6
database_cross_reference: NCI:C113422
database_cross_reference: ORDO:1916
database_cross_reference: UMLS_CUI:C0853695
has_exact_synonym: DES syndrome
has_obo_namespace: disease_ontology
id: DOID:0051077
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://rarediseases.org/mondo-disease/diethylstilbestrol-syndrome/
database_cross_reference: url:https://www.cancer.gov/about-cancer/causes-prevention/risk/hormones/des-fact-sheet#what-is-des
annotated property: definition
annotated source: diethylstilbestrol syndrome
annotated target: 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.

congenital anomalies of the kidney and urinary tract 3
type: Class
subclass of: congenital anomalies of the kidney and urinary tract
definition: A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21.
database_cross_reference: MIM:618270
has_exact_synonym: congenital anomalies of kidney and urinary tract 3
has_obo_namespace: disease_ontology
id: DOID:0051078

congenital anomalies of the kidney and urinary tract
type: Class
subclass of: kidney disease
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0000107
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002113
definition: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
database_cross_reference: GARD:18748
database_cross_reference: MESH:C566906
database_cross_reference: MIM:PS610805
database_cross_reference: ORDO:93545
has_exact_synonym: CAKUT
has_exact_synonym: MCDK
has_exact_synonym: Multicystic kidney dysplasia
has_exact_synonym: Renal or urinary tract malformation
has_exact_synonym: congenital anomalies of kidney and urinary tract
has_obo_namespace: disease_ontology
id: DOID:0080205
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/28381549/
annotated property: definition
annotated source: congenital anomalies of the kidney and urinary tract 3
annotated target: A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21.

obsolete monogenic chronic kidney disease
type: Class
comment: reviewing classification, see no need to keep this parent term[LS]
definition: A chronic kidney disease that has_material_basis_in a mutation in a single gene.
has_obo_namespace: disease_ontology
id: DOID:0051079
owl:deprecated: true

Axiom
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC10920206/
annotated property: definition
annotated source: obsolete monogenic chronic kidney disease
annotated target: A chronic kidney disease that has_material_basis_in a mutation in a single gene.

Alport syndrome 3B
type: Class
subclass of: autosomal recessive disease
subclass of: Alport syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:625
database_cross_reference: MIM:620536
database_cross_reference: ORDO:88919
has_obo_namespace: disease_ontology
id: DOID:0051080
in_subset: DO_rare_slim

Alport syndrome
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: monogenic disease
subclass of: syndrome
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012212
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A syndrome disease that is characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.
database_cross_reference: GARD:5785
database_cross_reference: MESH:D009394
database_cross_reference: MIM:PS301050
database_cross_reference: ORDO:63
database_cross_reference: SNOMEDCT_US_2025_09_01:57333009
database_cross_reference: UMLS_CUI:C0027706
has_exact_synonym: Hereditary Nephritis
has_obo_namespace: disease_ontology
id: DOID:10983
in_subset: DO_MGI_slim
in_subset: DO_rare_slim

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/9792860/
annotated property: definition
annotated source: Alport syndrome 3B
annotated target: 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.

polycystic kidney disease 8
type: Class
subclass of: autosomal dominant polycystic kidney disease
definition: 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.
database_cross_reference: MIM:620903
has_obo_namespace: disease_ontology
id: DOID:0051081

autosomal dominant polycystic kidney disease
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease.
subclass of: autosomal dominant disease
subclass of: DOID_0080322
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012212
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: 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.
database_cross_reference: GARD:10413
database_cross_reference: ICD10CM:Q61.3
database_cross_reference: ICD9CM:753.12
database_cross_reference: MESH:D007690
database_cross_reference: NCI:C75464
database_cross_reference: ORDO:730
database_cross_reference: SNOMEDCT_US_2025_09_01:204955006
database_cross_reference: UMLS_CUI:C0022680
has_exact_synonym: ADPKD
has_exact_synonym: Congenital biliary ectasias
has_exact_synonym: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
has_obo_namespace: disease_ontology
id: DOID:898
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/37598857/
annotated property: definition
annotated source: polycystic kidney disease 8
annotated target: 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.

Parkinson's disease 27
type: Class
subclass of: Parkinson's disease
definition: A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22.
has_obo_namespace: disease_ontology
id: DOID:0051082

Parkinson's disease
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
subclass of: synucleinopathy
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_607688
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_610297
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_613643
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_614251
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_619491
subclass of: Restriction
  on property: RO_0004005
  some values from: MIM_620923
definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
database_cross_reference: ICD10CM:G20
database_cross_reference: ORDO:2828
database_cross_reference: GARD:10251
database_cross_reference: ICD9CM:332
database_cross_reference: KEGG:05012
database_cross_reference: MESH:D010300
database_cross_reference: MIM:PS168600
database_cross_reference: NCI:C26845
database_cross_reference: SNOMEDCT_US_2025_09_01:49049000
database_cross_reference: UMLS_CUI:C0030567
has_exact_synonym: Parkinson disease
has_exact_synonym: paralysis agitans
has_obo_namespace: disease_ontology
id: DOID:14330
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
database_cross_reference: url:https://pmc.ncbi.nlm.nih.gov/articles/PMC11241486/
annotated property: definition
annotated source: Parkinson's disease 27
annotated target: A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22.

developmental and epileptic encephalopathy 111
type: Class
subclass of: autosomal recessive disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620504
has_obo_namespace: disease_ontology
id: DOID:0051083

developmental and epileptic encephalopathy
type: Class
subclass of: electroclinical syndrome
definition: 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.
database_cross_reference: MIM:PS308350
has_obo_namespace: disease_ontology
id: DOID:0112202

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/36067010/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 111
annotated target: 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 112
type: Class
subclass of: autosomal dominant disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:620537
has_obo_namespace: disease_ontology
id: DOID:0051084

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/36307226/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 112
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620772
has_obo_namespace: disease_ontology
id: DOID:0051085

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/37985816/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 113
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:620774
has_obo_namespace: disease_ontology
id: DOID:0051086

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/36073542/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 114
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:620783
has_obo_namespace: disease_ontology
id: DOID:0051087

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/38423010/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 115
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
database_cross_reference: MIM:621304
has_obo_namespace: disease_ontology
id: DOID:0051088

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/40442284/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 119
annotated target: 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
type: Class
subclass of: autosomal dominant disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
definition: 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.
database_cross_reference: MIM:621468
has_obo_namespace: disease_ontology
id: DOID:0051089

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/41133935/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 120
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003623
definition: 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.
database_cross_reference: MIM:621475
has_obo_namespace: disease_ontology
id: DOID:0051090

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/40455867/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 121
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: developmental and epileptic encephalopathy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
definition: 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.
database_cross_reference: MIM:621608
has_obo_namespace: disease_ontology
id: DOID:0051091

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/41570816/
annotated property: definition
annotated source: developmental and epileptic encephalopathy 122
annotated target: 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
type: Class
subclass of: bacterial infectious disease
subclass of: fungal infectious disease
subclass of: endocarditis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 2
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon 4751
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
database_cross_reference: GARD:6337
has_obo_namespace: disease_ontology
id: DOID:0060000
in_subset: DO_infectious_disease_slim
in_subset: DO_rare_slim

endocarditis
type: Class
subclass of: endocardium disease
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
has_alternative_id: DOID:14058
database_cross_reference: ICD10CM:I33.9
database_cross_reference: ICD9CM:421.9
database_cross_reference: MESH:D004696
database_cross_reference: NCI:C34582
database_cross_reference: NCI:C35432
database_cross_reference: SNOMEDCT_US_2025_09_01:56819008
database_cross_reference: SNOMEDCT_US_2025_09_01:91357005
database_cross_reference: UMLS_CUI:C0014118
database_cross_reference: UMLS_CUI:C0375268
has_obo_namespace: disease_ontology
id: DOID:10314
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Endocarditis
database_cross_reference: url:http://en.wikipedia.org/wiki/Infective_endocarditis
annotated property: definition
annotated source: infective endocarditis
annotated target: An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.

withdrawal disorder
type: Class
subclass of: substance-related disorder
subclass of: Restriction
  on property: RO_0007001
  some values from: CHEBI_30879
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060001

substance-related disorder
type: Class
subclass of: disease of mental health
definition: 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.
database_cross_reference: MESH:D019966
database_cross_reference: NCI:C92203
database_cross_reference: UMLS_CUI:C0236969
has_obo_namespace: disease_ontology
id: DOID:303
in_subset: DO_RAD_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Withdrawal
annotated property: definition
annotated source: withdrawal disorder
annotated target: 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.

C1 inhibitor deficiency
type: Class
subclass of: complement deficiency
definition: 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.
has_exact_synonym: Quincke edema
has_obo_namespace: disease_ontology
id: DOID:0060002

Axiom
comment: ls:IEDB
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease
annotated property: definition
annotated source: C1 inhibitor deficiency
annotated target: 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.

autoimmune disease of central nervous system
type: Class
subclass of: central nervous system disease
subclass of: autoimmune disease of the nervous system
definition: An autoimmune hypersensitivity disease located_in the central nervous system.
has_obo_namespace: disease_ontology
id: DOID:0060004
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017

autoimmune disease of the nervous system
type: Class
subclass of: nervous system disease
subclass of: autoimmune disease
definition: An autoimmune disease affecting the nervous system.
database_cross_reference: MESH:D020274
database_cross_reference: NCI:C99383
database_cross_reference: UMLS_CUI:C0751871
has_obo_namespace: disease_ontology
has_related_synonym: autoimmune nervous system disorder
id: DOID:438
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001016

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of central nervous system
annotated target: An autoimmune hypersensitivity disease located_in the central nervous system.

endocrine system disease
type: Class
subclass of: disease of anatomical entity
definition: 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.
database_cross_reference: ICD10CM:E34.9
database_cross_reference: ICD9CM:259.9
database_cross_reference: MESH:D004700
database_cross_reference: NCI:C3009
database_cross_reference: SNOMEDCT_US_2025_09_01:67432001
database_cross_reference: UMLS_CUI:C0014130
has_obo_namespace: disease_ontology
id: DOID:28
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000949

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of endocrine system
annotated target: 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.

obsolete artemis deficiency
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060006
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/DCLRE1C
annotated property: definition
annotated source: obsolete artemis deficiency
annotated target: 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
type: Class
subclass of: severe combined immunodeficiency
definition: A severe combined immunodeficiency that affects the development and function of T cells.
has_obo_namespace: disease_ontology
id: DOID:0060007

severe combined immunodeficiency
type: Class
subclass of: DOID_0111962
definition: 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.
database_cross_reference: MESH:D016511
database_cross_reference: GARD:7628
database_cross_reference: NCI:C3472
database_cross_reference: SNOMEDCT_US_2025_09_01:190994004
database_cross_reference: UMLS_CUI:C0085110
has_exact_synonym: SCID
has_exact_synonym: combined T and B cell inborn immunodeficiency
has_obo_namespace: disease_ontology
id: DOID:627
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16264327
annotated property: definition
annotated source: CD3zeta deficiency
annotated target: A severe combined immunodeficiency that affects the development and function of T cells.

janus kinase-3 deficiency
type: Class
subclass of: severe combined immunodeficiency
definition: 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.
database_cross_reference: MIM:600802
has_obo_namespace: disease_ontology
id: DOID:0060008

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance
annotated property: definition
annotated source: janus kinase-3 deficiency
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: severe combined immunodeficiency
definition: 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.
database_cross_reference: MIM:604571
has_exact_synonym: BLS, TYPE I
has_exact_synonym: BLSI
has_exact_synonym: HLA CLASS I DEFICIENCY
has_exact_synonym: bare lymphocyte syndrome type I
has_obo_namespace: disease_ontology
id: DOID:0060009

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25001848
annotated property: definition
annotated source: MHC class I deficiency
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: MHC class I deficiency
annotated target: BLSI

Omenn syndrome
type: Class
subclass of: severe combined immunodeficiency
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000047
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: 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.
database_cross_reference: GARD:8198
database_cross_reference: ICD10CM:D81.8
database_cross_reference: MIM:603554
has_exact_synonym: combined immunodeficiency with hypereosinophilia
has_obo_namespace: disease_ontology
id: DOID:0060010
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Omenn_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11213808
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14328107
annotated property: definition
annotated source: Omenn syndrome
annotated target: 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.

recombinase activating gene 1 deficiency
type: Class
subclass of: severe combined immunodeficiency
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060011

Axiom
database_cross_reference: url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html
annotated property: definition
annotated source: recombinase activating gene 1 deficiency
annotated target: 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
type: Class
subclass of: severe combined immunodeficiency
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060012

Axiom
database_cross_reference: url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html
annotated property: definition
annotated source: recombinase activating gene 2 deficiency
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: X-linked recessive disease
subclass of: severe combined immunodeficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
has_alternative_id: DOID:5811
database_cross_reference: GARD:5618
database_cross_reference: MESH:D053632
database_cross_reference: MIM:300400
database_cross_reference: NCI:C4682
database_cross_reference: SNOMEDCT_US_2025_09_01:203592006
database_cross_reference: UMLS_CUI:C1279481
has_exact_synonym: SCID-X1
has_exact_synonym: XSCID
has_exact_synonym: gamma chain deficiency
has_exact_synonym: thymic epithelial hypoplasia
has_obo_namespace: disease_ontology
id: DOID:0060013
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
database_cross_reference: url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms
annotated property: definition
annotated source: X-linked severe combined immunodeficiency
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: X-linked severe combined immunodeficiency
annotated target: SCID-X1

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: X-linked severe combined immunodeficiency
annotated target: XSCID

CD45 deficiency
type: Class
subclass of: severe combined immunodeficiency
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060014

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29366662
annotated property: definition
annotated source: CD45 deficiency
annotated target: 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.

obsolete interleukin-7 receptor alpha deficiency
type: Class
comment: Duplicate term. Use 'term replaced by' instead. [JAB]
definition: 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.
term replaced by: severe combined immunodeficiency 104
has_exact_synonym: IL-7R
has_obo_namespace: disease_ontology
id: DOID:0060015
owl:deprecated: true

severe combined immunodeficiency 104
type: Class
subclass of: autosomal recessive disease
subclass of: severe combined immunodeficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003593
definition: 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.
has_alternative_id: DOID:0060015
database_cross_reference: ICD10CM:D81.2
database_cross_reference: MESH:C563822
database_cross_reference: MIM:608971
database_cross_reference: ORDO:169154
has_exact_synonym: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
has_exact_synonym: interleukin-7 receptor alpha deficiency
has_exact_synonym: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
has_obo_namespace: disease_ontology
id: DOID:0090014
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15661025
annotated property: definition
annotated source: obsolete interleukin-7 receptor alpha deficiency
annotated target: 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.

CD3delta deficiency
type: Class
subclass of: severe combined immunodeficiency
definition: 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.
has_exact_synonym: CD3D
has_obo_namespace: disease_ontology
id: DOID:0060016

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15640687
annotated property: definition
annotated source: CD3delta deficiency
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: CD3delta deficiency
annotated target: CD3D

CD3epsilon deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: severe combined immunodeficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060017

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16264327
annotated property: definition
annotated source: CD3epsilon deficiency
annotated target: 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
type: Class
subclass of: autosomal recessive disease
subclass of: severe combined immunodeficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060018

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16264327
annotated property: definition
annotated source: CD3gamma deficiency
annotated target: 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
type: Class
subclass of: severe combined immunodeficiency
definition: 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.
database_cross_reference: MIM:615401
has_obo_namespace: disease_ontology
id: DOID:0060019

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed
annotated property: definition
annotated source: coronin-1A deficiency
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: severe combined immunodeficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0000777
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000086
definition: 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.
has_alternative_id: DOID:1226
database_cross_reference: GARD:8625
database_cross_reference: MESH:C538361
database_cross_reference: MIM:267500
database_cross_reference: NCI:C27070
database_cross_reference: SNOMEDCT_US_2025_09_01:111584000
database_cross_reference: UMLS_CUI:C0272167
has_exact_synonym: De Vaal disease
has_obo_namespace: disease_ontology
has_related_synonym: aleukocytosis
id: DOID:0060020
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/204?
annotated property: definition
annotated source: reticular dysgenesis
annotated target: 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.

DNA ligase IV deficiency
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: autosomal recessive disease
subclass of: combined T cell and B cell immunodeficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0001510
definition: 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.
database_cross_reference: MIM:606593
has_exact_synonym: LIG4 Syndrome
has_obo_namespace: disease_ontology
id: DOID:0060021

combined T cell and B cell immunodeficiency
type: Class
comment: Xref MGI.
subclass of: DOID_0111962
definition: A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.
database_cross_reference: NCI:C27871
database_cross_reference: ICD10CM:D81
database_cross_reference: ICD9CM:279.2
database_cross_reference: ORDO:101972
database_cross_reference: SNOMEDCT_US_2025_09_01:442459007
database_cross_reference: UMLS_CUI:C2711630
has_exact_synonym: Congenital Combined Immunodeficiency
has_obo_namespace: disease_ontology
id: DOID:628
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/606593
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/3981
annotated property: definition
annotated source: DNA ligase IV deficiency
annotated target: 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.

CD40 ligand deficiency
type: Class
subclass of: X-linked recessive disease
subclass of: combined T cell and B cell immunodeficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: MIM:308230
has_exact_synonym: HIGMX-1
has_exact_synonym: X-linked hyper-IgM syndrome
has_obo_namespace: disease_ontology
id: DOID:0060022

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30681380
annotated property: definition
annotated source: CD40 ligand deficiency
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: CD40 ligand deficiency
annotated target: HIGMX-1

immunodeficiency with hyper IgM type 3
type: Class
subclass of: autosomal recessive disease
subclass of: hyper IgM syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: GARD:10579
database_cross_reference: MESH:D053306
database_cross_reference: MIM:606843
database_cross_reference: NCI:C176416
database_cross_reference: ORDO:101090
database_cross_reference: SNOMEDCT_US_2025_09_01:1362020006
database_cross_reference: UMLS_CUI:C1720957
has_exact_synonym: CD40 deficiency
has_exact_synonym: HIGM3
has_exact_synonym: hyper-IgM syndrome due to CD40 deficiency
has_exact_synonym: type 3 hyper-IgM immunodeficiency
has_obo_namespace: disease_ontology
id: DOID:0060023
in_subset: DO_rare_slim
in_subset: NCIthesaurus

hyper IgM syndrome
type: Class
subclass of: DOID 2959
definition: 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.
database_cross_reference: MESH:D053306
database_cross_reference: MIM:PS308230
database_cross_reference: NCI:C3990
database_cross_reference: SNOMEDCT_US_2025_09_01:82286005
database_cross_reference: UMLS_CUI:C0272236
has_exact_synonym: HIGM
has_exact_synonym: hyperimmunoglobulin M syndrome
has_exact_synonym: immunodeficiency with hyper-IgM
has_obo_namespace: disease_ontology
id: DOID:0080544
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11675497
annotated property: definition
annotated source: immunodeficiency with hyper IgM type 3
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: immunodeficiency with hyper IgM type 3
annotated target: HIGM3

lambda 5 deficiency
type: Class
subclass of: monogenic disease
subclass of: B cell deficiency
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060024

B cell deficiency
type: Class
subclass of: primary immunodeficiency disease
definition: 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.
has_alternative_id: DOID:6026
database_cross_reference: ICD9CM:279.03
database_cross_reference: SNOMEDCT_US_2025_09_01:190982008
database_cross_reference: UMLS_CUI:C0154276
has_exact_synonym: B cell (antibody) deficiencies
has_exact_synonym: Immunoglobulin heavy chain deficiency
has_exact_synonym: immunoglobulin heavy chain deletion
has_obo_namespace: disease_ontology
id: DOID:2115

Axiom
dc:type: ECO_0007636
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/3543?
annotated property: definition
annotated source: lambda 5 deficiency
annotated target: 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.

immunoglobulin alpha deficiency
type: Class
comment: Xref MGI.
subclass of: autosomal recessive disease
subclass of: B cell deficiency
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.
database_cross_reference: GARD:10197
database_cross_reference: MESH:D017098
database_cross_reference: MIM:137100
database_cross_reference: MIM:269650
database_cross_reference: MIM:609529
database_cross_reference: ORDO:69127
database_cross_reference: SNOMEDCT_US_2025_09_01:29260007
database_cross_reference: UMLS_CUI:C0162538
has_exact_synonym: IgA deficiency
has_exact_synonym: gamma-A-globulin deficiency
has_obo_namespace: disease_ontology
id: DOID:0060025
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/gene/973?
annotated property: definition
annotated source: immunoglobulin alpha deficiency
annotated target: A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.

immunoglobulin beta deficiency
type: Class
subclass of: B cell deficiency
definition: 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.
has_obo_namespace: disease_ontology
has_related_synonym: IgB deficiency
id: DOID:0060026

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency
annotated property: definition
annotated source: immunoglobulin beta deficiency
annotated target: 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.

agammaglobulinemia 4
type: Class
subclass of: autosomal recessive disease
subclass of: agammaglobulinemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.
database_cross_reference: MIM:613502
has_exact_synonym: B cell linker protein deficiency
has_exact_synonym: B-cell linker protein deficiency
has_exact_synonym: BLNK deficiency
has_obo_namespace: disease_ontology
id: DOID:0060027

agammaglobulinemia
type: Class
comment: OMIM mapping confirmed by DO. [SN].
subclass of: monogenic disease
subclass of: B cell deficiency
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A B cell deficiency that is caused by a reduction in all types of gamma globulins.
has_alternative_id: DOID:618
database_cross_reference: ICD10CM:D80.1
database_cross_reference: ICD9CM:279.00
database_cross_reference: MESH:D000361
database_cross_reference: MIM:PS601495
database_cross_reference: NCI:C26931
database_cross_reference: SNOMEDCT_US_2025_09_01:119250001
database_cross_reference: SNOMEDCT_US_2025_09_01:267512002
database_cross_reference: UMLS_CUI:C0001768
database_cross_reference: UMLS_CUI:C0086438
has_exact_synonym: IGHM
has_exact_synonym: hypogammaglobulinemia
has_exact_synonym: mu heavy chain deficiency
has_obo_namespace: disease_ontology
id: DOID:2583
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10583958
annotated property: definition
annotated source: agammaglobulinemia 4
annotated target: An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.

Good syndrome
type: Class
subclass of: combined T cell and B cell immunodeficiency
definition: 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.
has_exact_synonym: thymoma with hypogammaglobulinemia
has_obo_namespace: disease_ontology
id: DOID:0060028

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Good_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/articles/PMC3102047/
annotated property: definition
annotated source: Good syndrome
annotated target: 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.

autoimmune disease of exocrine system
type: Class
subclass of: autoimmune disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060029
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002330

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of exocrine system
annotated target: 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.

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of eyes, ear, nose and throat
annotated target: An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of gastrointestinal tract
annotated target: 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.

musculoskeletal system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that occurs in the muscular and/or skeletal system.
database_cross_reference: MESH:D009140
database_cross_reference: NCI:C107377
database_cross_reference: SNOMEDCT_US_2025_09_01:268047003
database_cross_reference: UMLS_CUI:C0026857
has_obo_namespace: disease_ontology
id: DOID:17
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of musculoskeletal system
annotated target: 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.

peripheral nervous system disease
type: Class
subclass of: nervous system disease
definition: A nervous system disease that affects the peripheral nervous system.
has_alternative_id: DOID:13069
database_cross_reference: NCI:C119734
database_cross_reference: NCI:C27587
database_cross_reference: UMLS_CUI:C0031117
database_cross_reference: UMLS_CUI:C1335029
has_obo_namespace: disease_ontology
has_related_synonym: peripheral nerve disease
has_related_synonym: peripheral neuropathy
id: DOID:574
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000010

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of peripheral nervous system
annotated target: 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.

dropped head syndrome
type: Class
subclass of: spinal disease
definition: 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.
has_exact_synonym: floppy head syndrome
has_obo_namespace: disease_ontology
id: DOID:0060034

Axiom
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/23203936/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751
annotated property: definition
annotated source: dropped head syndrome
annotated target: 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.

obsolete medical disorder
type: Class
definition: A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
has_obo_namespace: disease_ontology
id: DOID:0060035
owl:deprecated: true

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Diseases#Disorder
database_cross_reference: url:http://www.medilexicon.com/medicaldictionary.php?t=25959
annotated property: definition
annotated source: obsolete medical disorder
annotated target: A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.

Axiom
database_cross_reference: url:https://en.wikipedia.org/wiki/Cardiomyopathy
annotated property: definition
annotated source: intrinsic cardiomyopathy
annotated target: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.

developmental disorder of mental health
type: Class
subclass of: disease of mental health
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060037
in_subset: DO_RAD_slim

disease of mental health
type: Class
subclass of: disease
definition: 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.
database_cross_reference: ICD10CM:F99
database_cross_reference: MESH:D001523
database_cross_reference: NCI:C2893
database_cross_reference: SNOMEDCT_US_2025_09_01:74732009
database_cross_reference: UMLS_CUI:C0004936
has_obo_namespace: disease_ontology
id: DOID:150
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: DO_RAD_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Developmental_disorders
annotated property: definition
annotated source: developmental disorder of mental health
annotated target: 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.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Specific_developmental_disorder
annotated property: definition
annotated source: specific developmental disorder
annotated target: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.

autoimmune disease of skin and connective tissue
type: Class
subclass of: skin disease
subclass of: autoimmune disease of musculoskeletal system
subclass of: connective tissue disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060039
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: Class
      intersection of: UBERON_0000014
      intersection of: UBERON_0002384

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of skin and connective tissue
annotated target: 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
type: Class
subclass of: developmental disorder of mental health
definition: 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.
has_alternative_id: DOID:1208
database_cross_reference: ICD9CM:299.80
database_cross_reference: UMLS_CUI:C0154451
has_exact_synonym: Pervasive Child Development Disorders
has_exact_synonym: pervasive development disorder
has_obo_namespace: disease_ontology
id: DOID:0060040

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.ninds.nih.gov/health-information/disorders/pervasive-developmental-disorders
annotated property: definition
annotated source: pervasive developmental disorder
annotated target: 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.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://www.neurodevnet.ca
database_cross_reference: url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder
database_cross_reference: url:https://www.genome.gov/Genetic-Disorders/Autism
annotated property: definition
annotated source: autism spectrum disorder
annotated target: 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.

atypical autism
type: Class
subclass of: autism spectrum disorder
definition: 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.
has_exact_synonym: PDD
has_obo_namespace: disease_ontology
id: DOID:0060042

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://counsellingresource.com/distress/autistic/autism-atypical.html
database_cross_reference: url:https://kidsbrainhealth.ca
database_cross_reference: url:https://www.thehealthboard.com/what-is-atypical-autism.htm
annotated property: definition
annotated source: atypical autism
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: atypical autism
annotated target: PDD

sexual health disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involves the impairment in normal sexual functioning.
has_obo_namespace: disease_ontology
id: DOID:0060043

Axiom
database_cross_reference: url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction
annotated property: definition
annotated source: sexual health disorder
annotated target: A disease of mental health that involves the impairment in normal sexual functioning.

paraphilia disorder
type: Class
subclass of: sexual health disorder
definition: A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.
has_obo_namespace: disease_ontology
id: DOID:0060044

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Paraphilia
annotated property: definition
annotated source: paraphilia disorder
annotated target: A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.

Munchausen by proxy
type: Class
subclass of: factitious disorder
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060045

factitious disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
database_cross_reference: ICD9CM:300.16
database_cross_reference: SNOMEDCT_US_2025_09_01:430751001
database_cross_reference: UMLS_CUI:C0015481
has_exact_synonym: Munchausen syndrome
has_obo_namespace: disease_ontology
id: DOID:1766

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Munchausen_by_proxy
annotated property: definition
annotated source: Munchausen by proxy
annotated target: 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.

aphasia
type: Class
subclass of: language disorder
definition: A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.
database_cross_reference: MESH:D001037
has_obo_namespace: disease_ontology
id: DOID:0060046

language disorder
type: Class
subclass of: DOID 2033
definition: A communication disorder that involves the processing of linguistic information.
database_cross_reference: ICD10CM:F80.9
database_cross_reference: MESH:D007806
database_cross_reference: NCI:C97155
database_cross_reference: SNOMEDCT_US_2025_09_01:62305002
database_cross_reference: UMLS_CUI:C0023015
has_obo_namespace: disease_ontology
id: DOID:93
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Aphasia
annotated property: definition
annotated source: aphasia
annotated target: A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.

writing disorder
type: Class
subclass of: learning disability
definition: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
has_obo_namespace: disease_ontology
id: DOID:0060047

learning disability
type: Class
subclass of: specific developmental disorder
definition: 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.
has_alternative_id: DOID:2847
database_cross_reference: SNOMEDCT_US_2025_09_01:1855002
database_cross_reference: ICD10CM:F81.9
database_cross_reference: MESH:D007859
database_cross_reference: NCI:C89334
database_cross_reference: SNOMEDCT_US_2025_09_01:192531005
database_cross_reference: UMLS_CUI:C0023186
database_cross_reference: UMLS_CUI:C0751265
has_exact_synonym: Academic skill disorder
has_exact_synonym: learning disorder
has_obo_namespace: disease_ontology
id: DOID:8927
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities
annotated property: definition
annotated source: writing disorder
annotated target: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.

nosophobia
type: Class
subclass of: specific phobia
definition: A specific phobia that involves an irrational fear of contracting a disease.
has_obo_namespace: disease_ontology
id: DOID:0060048

specific phobia
type: Class
subclass of: DOID 591
definition: A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
database_cross_reference: ICD10CM:F40.2
database_cross_reference: MESH:C562465
database_cross_reference: MIM:608251
database_cross_reference: NCI:C35284
database_cross_reference: SNOMEDCT_US_2025_09_01:54587008
database_cross_reference: UMLS_CUI:C0236801
has_exact_synonym: simple phobia
has_obo_namespace: disease_ontology
id: DOID:599
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Nosophobia
annotated property: definition
annotated source: nosophobia
annotated target: A specific phobia that involves an irrational fear of contracting a disease.

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of urogenital tract
annotated target: 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 disease of blood
type: Class
subclass of: autoimmune disease
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060050
in_subset: DO_FlyBase_slim
equivalent class: Class
  intersection of: autoimmune disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000178

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of blood
annotated target: 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.

Axiom
comment: ls:IEDB
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
annotated property: definition
annotated source: autoimmune disease of cardiovascular system
annotated target: 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.

obsolete neurological disorder
type: Class
definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060052
owl:deprecated: true

Axiom
database_cross_reference: ls:IEDB
annotated property: definition
annotated source: obsolete neurological disorder
annotated target: 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
type: Class
definition: A neuropathy that is located_in nerves of the peripheral nervous system.
has_obo_namespace: disease_ontology
id: DOID:0060053
owl:deprecated: true

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_neuropathy
annotated property: definition
annotated source: obsolete peripheral neuropathy
annotated target: A neuropathy that is located_in nerves of the peripheral nervous system.

autonomic peripheral neuropathy
type: Class
subclass of: neuropathy
definition: A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence.
has_obo_namespace: disease_ontology
id: DOID:0060054

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Autonomic_neuropathy
annotated property: definition
annotated source: autonomic peripheral neuropathy
annotated target: 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
type: Class
comment: NT MGI.
subclass of: autosomal dominant disease
subclass of: syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: 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.
creation_date: 2015-02-04T14:16:39Z
database_cross_reference: GARD:3242
database_cross_reference: MIM:119500
database_cross_reference: MIM:263650
database_cross_reference: ORDO:1300
database_cross_reference: ORDO:294963
database_cross_reference: SNOMEDCT_US_2025_09_01:205820002
database_cross_reference: UMLS_CUI:C0265259
has_exact_synonym: facio-genito-popliteal syndrome
has_exact_synonym: popliteal web syndrome
has_obo_namespace: disease_ontology
id: DOID:0060055
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2352260
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/4384166
annotated property: definition
annotated source: popliteal pterygium syndrome
annotated target: 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.

hypersensitivity reaction disease
type: Class
subclass of: immune system disease
definition: An immune system disease that has_material_basis_in abnormal immune responses.
has_obo_namespace: disease_ontology
id: DOID:0060056

immune system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the immune system.
database_cross_reference: EFO:0000540
database_cross_reference: ICD10CM:D89.9
database_cross_reference: ICD9CM:279.9
database_cross_reference: SNOMEDCT_US_2025_09_01:154782004
database_cross_reference: UMLS_CUI:C0041806
has_obo_namespace: disease_ontology
id: DOID:2914
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_FlyBase_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002405

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007646
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypersensitivity
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK27136/
annotated property: definition
annotated source: hypersensitivity reaction disease
annotated target: An immune system disease that has_material_basis_in abnormal immune responses.

gluten allergy
type: Class
subclass of: food allergy
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: 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.
has_exact_synonym: allergy to gluten
has_exact_synonym: gluten allergic reaction
has_obo_namespace: disease_ontology
id: DOID:0060057
in_subset: DO_IEDB_slim

food allergy
type: Class
subclass of: DOID_0060502
definition: A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
database_cross_reference: MESH:D005512
database_cross_reference: NCI:C172304
database_cross_reference: SNOMEDCT_US_2025_09_01:213018006
database_cross_reference: UMLS_CUI:C0016470
has_exact_synonym: food hypersensitivity
has_obo_namespace: disease_ontology
id: DOID:3044
in_subset: DO_IEDB_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy
annotated property: definition
annotated source: gluten allergy
annotated target: 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.

lymphoma
type: Class
subclass of: lymphatic system cancer
subclass of: hematologic cancer
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001744
definition: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
has_alternative_id: DOID:1033
has_alternative_id: DOID:353
database_cross_reference: ICD10CM:C85.9
database_cross_reference: ICDO:9590/3
database_cross_reference: MESH:D008223
database_cross_reference: NCI:C3208
database_cross_reference: NCI:C7065
database_cross_reference: SNOMEDCT_US_2025_09_01:269627002
database_cross_reference: SNOMEDCT_US_2025_09_01:414628006
database_cross_reference: UMLS_CUI:C0024299
database_cross_reference: UMLS_CUI:C0598798
has_exact_synonym: lymphoid cancer
has_obo_namespace: disease_ontology
id: DOID:0060058
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: has material basis in
    some values from: CL_0000542

lymphatic system cancer
type: Class
subclass of: lymphatic system disease
subclass of: immune system cancer
definition: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
creation_date: 2011-05-11T01:05:14Z
has_obo_namespace: disease_ontology
id: DOID:0060073
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001744

hematologic cancer
type: Class
subclass of: organ system cancer
subclass of: DOID 74
definition: An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
has_alternative_id: DOID:1034
has_alternative_id: DOID:2532
database_cross_reference: MESH:D019337
database_cross_reference: NCI:C27134
database_cross_reference: SNOMEDCT_US_2025_09_01:414388001
database_cross_reference: UMLS_CUI:C0376544
has_exact_synonym: Hematologic malignancy
has_exact_synonym: Hematologic neoplasm
has_exact_synonym: Hematological tumors
has_exact_synonym: blood cancer
has_exact_synonym: hematopoietic and lymphoid system tumor
has_exact_synonym: hematopoietic cancer
has_exact_synonym: hematopoietic neoplasm
has_exact_synonym: hematopoietic tumors
has_exact_synonym: malignant hematopoietic neoplasm
has_obo_namespace: disease_ontology
id: DOID:2531
in_subset: DO_CFDE_slim
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002390

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007644
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphoma
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/lymphoma.html
annotated property: definition
annotated source: lymphoma
annotated target: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45148
annotated property: definition
annotated source: non-Hodgkin lymphoma
annotated target: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.

primary cutaneous T-cell non-Hodgkin lymphoma
type: Class
subclass of: peripheral T-cell lymphoma
definition: A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.
database_cross_reference: GARD:6226
database_cross_reference: MESH:D016410
database_cross_reference: NCI:C3467
has_exact_synonym: cutaneous T cell lymphoma
has_exact_synonym: cutaneous T-cell lymphoma
has_obo_namespace: disease_ontology
id: DOID:0060061
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma
annotated property: definition
annotated source: primary cutaneous T-cell non-Hodgkin lymphoma
annotated target: A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.

autosomal dominant tubulointerstitial kidney disease
type: Class
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
subclass of: kidney disease
subclass of: autosomal dominant disease
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: 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.
database_cross_reference: MIM:PS162000
database_cross_reference: ORDO:34149
has_exact_synonym: HNFJ
has_exact_synonym: MCKD
has_exact_synonym: familial juvenile hyperuricemic nephropathy
has_exact_synonym: medullary cystic kidney disease
has_obo_namespace: disease_ontology
id: DOID:0060062
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1356/
annotated property: definition
annotated source: autosomal dominant tubulointerstitial kidney disease
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: autosomal dominant tubulointerstitial kidney disease
annotated target: HNFJ

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: autosomal dominant tubulointerstitial kidney disease
annotated target: MCKD

sideroblastic anemia 1
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: X-linked recessive disease
subclass of: sideroblastic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: 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.
database_cross_reference: GARD:9456
database_cross_reference: MIM:300751
has_exact_synonym: X-linked sideroblastic anaemia
has_exact_synonym: X-linked sideroblastic anemia
has_exact_synonym: XLSA
has_exact_synonym: sideroblastic anaemia 1
has_obo_namespace: disease_ontology
id: DOID:0060063
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia
annotated property: definition
annotated source: sideroblastic anemia 1
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: sideroblastic anemia 1
annotated target: XLSA

obsolete sideroblastic anemia with spinocerebellar ataxia
type: Class
comment: OMIM mapping confirmed by DO. [LS].
definition: 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.
has_exact_synonym: ASAT
has_obo_namespace: disease_ontology
id: DOID:0060064
owl:deprecated: true

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/668/anemia-sideroblastic-and-spinocerebellar-ataxia
annotated property: definition
annotated source: obsolete sideroblastic anemia with spinocerebellar ataxia
annotated target: 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.

autosomal recessive pyridoxine-refractory sideroblastic anemia 2
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: autosomal recessive disease
subclass of: sideroblastic anemia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: 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.
database_cross_reference: MIM:205950
has_exact_synonym: autosomal recessive pyridoxine-refractory sideroblastic anaemia 2
has_exact_synonym: pyridoxine-refractory autosomal recessive sideroblastic anaemia
has_exact_synonym: pyridoxine-refractory autosomal recessive sideroblastic anemia
has_obo_namespace: disease_ontology
id: DOID:0060065

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive
annotated property: definition
annotated source: autosomal recessive pyridoxine-refractory sideroblastic anemia 2
annotated target: 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.

pyridoxine-responsive sideroblastic anemia
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: sideroblastic anemia
definition: A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance.
database_cross_reference: MIM:206000
has_obo_namespace: disease_ontology
id: DOID:0060066

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive
annotated property: definition
annotated source: pyridoxine-responsive sideroblastic anemia
annotated target: 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
type: Class
comment: OMIM mapping confirmed by DO. [LS].
subclass of: mitochondrial metabolism disease
definition: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
database_cross_reference: GARD:7343
database_cross_reference: MIM:557000
has_exact_synonym: Pearson Marrow-Pancreas Syndrome
has_obo_namespace: disease_ontology
id: DOID:0060067
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pearson_syndrome
annotated property: definition
annotated source: Pearson syndrome
annotated target: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

nonbacterial thrombotic endocarditis
type: Class
subclass of: endocarditis
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000262
definition: An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
creation_date: 2011-04-13T03:14:26Z
database_cross_reference: MESH:D059905
has_exact_synonym: marantic endocarditis
has_exact_synonym: non-bacterial thrombotic endocarditis
has_obo_namespace: disease_ontology
id: DOID:0060068

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Marantic_endocarditis
annotated property: definition
annotated source: nonbacterial thrombotic endocarditis
annotated target: An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.

obsolete Bacillus cereus pneumonia
type: Class
creation_date: 2011-04-15T11:41:26Z
has_obo_namespace: disease_ontology
id: DOID:0060069
owl:deprecated: true

pre-malignant neoplasm
type: Class
subclass of: disease of cellular proliferation
definition: 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.
creation_date: 2011-05-11T12:18:41Z
has_obo_namespace: disease_ontology
id: DOID:0060071
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
in_subset: DO_RAD_slim

disease of cellular proliferation
type: Class
subclass of: disease
definition: A disease that is characterized by abnormally rapid cell division.
OBI_9991118: neoplasm
has_alternative_id: DOID:0000818
has_exact_synonym: cell process disease
has_exact_synonym: neoplasm
has_obo_namespace: disease_ontology
id: DOID:14566
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Neoplasm
annotated property: definition
annotated source: pre-malignant neoplasm
annotated target: 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.

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007644
database_cross_reference: url:http://en.wikipedia.org/wiki/Benign_neoplasm
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/benigntumors.html
annotated property: definition
annotated source: benign neoplasm
annotated target: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.

immune system cancer
type: Class
subclass of: organ system cancer
subclass of: immune system disease
definition: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
creation_date: 2011-06-08T01:11:18Z
database_cross_reference: ICDO:9392/3
has_obo_namespace: disease_ontology
id: DOID:0060083
in_subset: DO_cancer_slim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002405

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphatic_system
annotated property: definition
annotated source: lymphatic system cancer
annotated target: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.

ductal carcinoma in situ
type: Class
subclass of: breast carcinoma in situ
definition: 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.
creation_date: 2011-06-08T12:19:28Z
has_obo_namespace: disease_ontology
id: DOID:0060074

breast carcinoma in situ
type: Class
subclass of: in situ carcinoma
subclass of: breast disease
definition: An in situ carcinoma that is located_in the breast.
database_cross_reference: ICD10CM:D05
database_cross_reference: ICD9CM:233.0
database_cross_reference: MESH:D000071960
database_cross_reference: SNOMEDCT_US_2025_09_01:154636004
database_cross_reference: UMLS_CUI:C0154084
has_exact_synonym: Non-Infiltrating carcinoma of breast
has_exact_synonym: carcinoma in situ of breast
has_obo_namespace: disease_ontology
id: DOID:8791
equivalent class: Class
  intersection of: in situ carcinoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000310

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:https://www.breastcancer.org/symptoms/types/dcis
database_cross_reference: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma
annotated property: definition
annotated source: ductal carcinoma in situ
annotated target: 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.

estrogen-receptor positive breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that is characterized by the presence of estrogen receptors.
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060075
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25471040
annotated property: definition
annotated source: estrogen-receptor positive breast cancer
annotated target: A breast cancer that is characterized by the presence of estrogen receptors.

estrogen-receptor negative breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that is characterized by the absence of estrogen receptors.
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060076
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25471040
annotated property: definition
annotated source: estrogen-receptor negative breast cancer
annotated target: A breast cancer that is characterized by the absence of estrogen receptors.

progesterone-receptor positive breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that is characterized by the presence of progesterone receptors.
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060077

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25471040
annotated property: definition
annotated source: progesterone-receptor positive breast cancer
annotated target: A breast cancer that is characterized by the presence of progesterone receptors.

progesterone-receptor negative breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that is characterized by the absence of progesterone receptors.
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060078

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25471040
annotated property: definition
annotated source: progesterone-receptor negative breast cancer
annotated target: A breast cancer that is characterized by the absence of progesterone receptors.

Her2-receptor positive breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that is characterized by the presence of Her2 receptors.
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060079
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html
database_cross_reference: url:https://www.sciencedirect.com/science/article/pii/S1470204511703369
annotated property: definition
annotated source: Her2-receptor positive breast cancer
annotated target: A breast cancer that is characterized by the presence of Her2 receptors.

Her2-receptor negative breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that is characterized by the absence of Her2 receptors.
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060080
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25682076
annotated property: definition
annotated source: Her2-receptor negative breast cancer
annotated target: A breast cancer that is characterized by the absence of Her2 receptors.

triple-receptor negative breast cancer
type: Class
subclass of: breast cancer
definition: A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060081
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22826413
annotated property: definition
annotated source: triple-receptor negative breast cancer
annotated target: A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.

breast benign neoplasm
type: Class
subclass of: thoracic benign neoplasm
subclass of: breast disease
definition: A thoracic benign neoplasm that is characterized by lack of malignancy.
creation_date: 2011-06-08T01:02:29Z
has_obo_namespace: disease_ontology
id: DOID:0060082
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000310

thoracic benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: thoracic disease
definition: An organ system benign neoplam that is located_in the thoracic cavity.
creation_date: 2011-07-15T01:55:57Z
has_obo_namespace: disease_ontology
id: DOID:0060097
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000915

breast disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the breast.
database_cross_reference: ICD10CM:N64.9
database_cross_reference: ICD9CM:610-612.99
database_cross_reference: MESH:D001941
database_cross_reference: NCI:C26709
database_cross_reference: SNOMEDCT_US_2025_09_01:79604008
database_cross_reference: UMLS_CUI:C0006145
has_obo_namespace: disease_ontology
id: DOID:3463
in_subset: DO_MGI_slim
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000310

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html
annotated property: definition
annotated source: breast benign neoplasm
annotated target: A thoracic benign neoplasm that is characterized by lack of malignancy.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Immune_system
annotated property: definition
annotated source: immune system cancer
annotated target: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Benign_tumor
annotated property: definition
annotated source: cell type benign neoplasm
annotated target: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.

Axiom
dc:type: ECO_0007636
database_cross_reference: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677
annotated property: definition
annotated source: organ system benign neoplasm
annotated target: A benign neoplasm that is classified by the organ system from which it is arising from.

female reproductive organ benign neoplasm
type: Class
subclass of: reproductive organ benign neoplasm
subclass of: female reproductive system disease
definition: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
creation_date: 2011-07-14T12:20:52Z
has_obo_namespace: disease_ontology
id: DOID:0060086
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000474

female reproductive system disease
type: Class
subclass of: reproductive system disease
definition: A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
database_cross_reference: ICD9CM:629.9
database_cross_reference: MESH:D005831
database_cross_reference: SNOMEDCT_US_2025_09_01:38233001
database_cross_reference: UMLS_CUI:C0017411
has_obo_namespace: disease_ontology
id: DOID:229
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000474

Axiom
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK9559/
annotated property: definition
annotated source: female reproductive organ benign neoplasm
annotated target: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.

male reproductive organ benign neoplasm
type: Class
subclass of: reproductive organ benign neoplasm
subclass of: male reproductive system disease
definition: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
creation_date: 2011-07-14T12:20:52Z
has_obo_namespace: disease_ontology
id: DOID:0060087
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000079

male reproductive system disease
type: Class
subclass of: reproductive system disease
definition: A reproductive system disease that affects male reproductive organs.
database_cross_reference: ICD10CM:N50.9
database_cross_reference: ICD9CM:608.9
database_cross_reference: MESH:D005832
database_cross_reference: SNOMEDCT_US_2025_09_01:64557000
database_cross_reference: UMLS_CUI:C0017412
has_obo_namespace: disease_ontology
id: DOID:48
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000079

Axiom
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK9556/
annotated property: definition
annotated source: male reproductive organ benign neoplasm
annotated target: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.

vestibular gland benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
definition: A female reproductive organ benign neoplasm that is located_in the vestibular gland.
creation_date: 2011-07-14T12:36:54Z
has_obo_namespace: disease_ontology
id: DOID:0060088
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0011826

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Bartholin%27s_gland
database_cross_reference: url:https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4
annotated property: definition
annotated source: vestibular gland benign neoplasm
annotated target: A female reproductive organ benign neoplasm that is located_in the vestibular gland.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Endocrine_system
annotated property: definition
annotated source: endocrine organ benign neoplasm
annotated target: 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.

central nervous system benign neoplasm
type: Class
subclass of: central nervous system disease
subclass of: nervous system benign neoplasm
definition: A nervous system benign neoplasm that is characterized by lack of malignancy.
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060090
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017

nervous system benign neoplasm
type: Class
subclass of: nervous system disease
subclass of: organ system benign neoplasm
definition: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
creation_date: 2011-07-25T12:47:43Z
has_obo_namespace: disease_ontology
id: DOID:0060115
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001016

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq
annotated property: definition
annotated source: central nervous system benign neoplasm
annotated target: A nervous system benign neoplasm that is characterized by lack of malignancy.

cardiovascular organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: cardiovascular system disease
definition: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060091
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004535

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system
annotated property: definition
annotated source: cardiovascular organ benign neoplasm
annotated target: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.

immune system organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
definition: An organ system benign neoplasm located_in the immune system organs.
creation_date: 2011-07-14T01:58:49Z
has_obo_namespace: disease_ontology
id: DOID:0060092
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0005057

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Immune_system
annotated property: definition
annotated source: immune system organ benign neoplasm
annotated target: An organ system benign neoplasm located_in the immune system organs.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Bone_tumor
annotated property: definition
annotated source: bone benign neoplasm
annotated target: A connective tissue benign neoplasm that is located_in bone.

uterine benign neoplasm
type: Class
subclass of: uterine disease
subclass of: female reproductive organ benign neoplasm
definition: A female reproductive organ benign neoplasm that is located_in the uterus.
creation_date: 2011-07-15T01:42:11Z
has_alternative_id: DOID:0060113
has_obo_namespace: disease_ontology
id: DOID:0060095
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000995

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK9559/
database_cross_reference: url:https://en.wikipedia.org/wiki/Uterine_fibroid
annotated property: definition
annotated source: uterine benign neoplasm
annotated target: A female reproductive organ benign neoplasm that is located_in the uterus.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system
annotated property: definition
annotated source: sensory organ benign neoplasm
annotated target: A nervous system benign neoplasm that is located_in a sensory organ.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Thoracic_cavity
annotated property: definition
annotated source: thoracic benign neoplasm
annotated target: An organ system benign neoplam that is located_in the thoracic cavity.

osteoblastoma
type: Class
subclass of: bone benign neoplasm
definition: A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.
creation_date: 2011-07-15T02:14:40Z
database_cross_reference: ICDO:9200/0
database_cross_reference: MESH:D018215
has_obo_namespace: disease_ontology
id: DOID:0060098
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Osteoblastoma
annotated property: definition
annotated source: osteoblastoma
annotated target: A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.

musculoskeletal system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: musculoskeletal system disease
definition: An organ system benign neoplasm that is located_in the muscular and skeletal organs.
creation_date: 2011-07-15T02:28:52Z
has_obo_namespace: disease_ontology
id: DOID:0060099
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Musculoskeletal_system
annotated property: definition
annotated source: musculoskeletal system benign neoplasm
annotated target: An organ system benign neoplasm that is located_in the muscular and skeletal organs.

musculoskeletal system cancer
type: Class
subclass of: organ system cancer
subclass of: musculoskeletal system disease
definition: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
creation_date: 2011-07-15T02:30:51Z
has_alternative_id: DOID:0060124
has_exact_synonym: skeletal system cancer
has_obo_namespace: disease_ontology
id: DOID:0060100
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders
annotated property: definition
annotated source: musculoskeletal system cancer
annotated target: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.

obsolete benign glioma
type: Class
definition: A cell type benign neoplasm that has_material_basis_in glial cells.
creation_date: 2011-07-19T01:27:04Z
has_obo_namespace: disease_ontology
id: DOID:0060101
owl:deprecated: true

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45700
annotated property: definition
annotated source: obsolete benign glioma
annotated target: A cell type benign neoplasm that has_material_basis_in glial cells.

cartilage cancer
type: Class
subclass of: cartilage disease
subclass of: connective tissue cancer
definition: A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.
creation_date: 2011-07-20T01:40:49Z
has_obo_namespace: disease_ontology
id: DOID:0060102
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002418

cartilage disease
type: Class
subclass of: connective tissue disease
definition: A connective tissue disease that is located_in cartilage.
database_cross_reference: ICD10CM:M94.9
database_cross_reference: MESH:D002357
database_cross_reference: SNOMEDCT_US_2025_09_01:50927007
database_cross_reference: UMLS_CUI:C0007302
has_exact_synonym: Cartilage disorder
has_exact_synonym: Chondropathy
has_obo_namespace: disease_ontology
id: DOID:1222
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002418

connective tissue cancer
type: Class
subclass of: connective tissue disease
subclass of: musculoskeletal system cancer
definition: A musculoskeletal system cancer that is located_in connective tissue.
database_cross_reference: MESH:D009372
database_cross_reference: SNOMEDCT_US_2025_09_01:126598008
database_cross_reference: UMLS_CUI:C0027656
has_exact_synonym: Tumour of connective tissue
has_exact_synonym: connective tissue neoplasm
has_exact_synonym: mesenchymal tissue malignant neoplasm
has_exact_synonym: neoplasm of connective tissues
has_obo_namespace: disease_ontology
id: DOID:201
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002384

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cartilage_tumor
annotated property: definition
annotated source: cartilage cancer
annotated target: A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.

central nervous system embryonal tumor
type: Class
subclass of: cerebrum cancer
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001893
definition: 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.
creation_date: 2011-07-21T02:24:10Z
database_cross_reference: ICDO:9473/3
database_cross_reference: NCI:C5398
has_exact_synonym: CNS embryonal tumour, NEC/NOS
has_exact_synonym: central nervous system primitive neuroectodermal neoplasm
has_obo_namespace: disease_ontology
id: DOID:0060103
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

cerebrum cancer
type: Class
subclass of: DOID 1659
definition: A supratentorial cancer that is located_in the cerebrum.
has_alternative_id: DOID:912
database_cross_reference: ICD9CM:191.8
database_cross_reference: NCI:C4874
database_cross_reference: SNOMEDCT_US_2025_09_01:126953009
database_cross_reference: SNOMEDCT_US_2025_09_01:188300006
database_cross_reference: UMLS_CUI:C0153642
database_cross_reference: UMLS_CUI:C1263885
has_exact_synonym: cerebral cancer
has_exact_synonym: neoplasm of cerebrum
has_exact_synonym: tumor of Cerebrum
has_obo_namespace: disease_ontology
id: DOID:368
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001893

Axiom
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465
database_cross_reference: url:https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor
annotated property: definition
annotated source: central nervous system embryonal tumor
annotated target: 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.

cerebellar medulloblastoma
type: Class
subclass of: cerebellum cancer
definition: A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
creation_date: 2011-07-21T02:28:01Z
has_obo_namespace: disease_ontology
id: DOID:0060104
in_subset: DO_cancer_slim

cerebellum cancer
type: Class
subclass of: cerebellar disease
subclass of: infratentorial cancer
has_alternative_id: DOID:12786
database_cross_reference: ICD10CM:C71.6
database_cross_reference: ICD9CM:191.6
database_cross_reference: MESH:D002528
database_cross_reference: NCI:C2935
database_cross_reference: NCI:C3569
database_cross_reference: SNOMEDCT_US_2025_09_01:126960003
database_cross_reference: SNOMEDCT_US_2025_09_01:449420002
database_cross_reference: UMLS_CUI:C0007762
database_cross_reference: UMLS_CUI:C0153640
has_exact_synonym: cerebellar cancer
has_exact_synonym: malignant tumor of Cerebellum
has_obo_namespace: disease_ontology
id: DOID:4205
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002037

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma
annotated property: definition
annotated source: cerebellar medulloblastoma
annotated target: A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.

brain meningioma
type: Class
subclass of: meningioma
subclass of: brain cancer
definition: 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.
creation_date: 2011-07-21T05:39:28Z
has_obo_namespace: disease_ontology
id: DOID:0060106
equivalent class: Class
  intersection of: meningioma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000955

meningioma
type: Class
subclass of: DOID 3620
definition: 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.
has_alternative_id: DOID:1137
has_alternative_id: DOID:3554
has_alternative_id: DOID:3567
has_alternative_id: DOID:4750
database_cross_reference: MESH:D008579
database_cross_reference: NCI:C6971
database_cross_reference: UMLS_CUI:C1334698
database_cross_reference: SNOMEDCT_US_2025_09_01:269643009
database_cross_reference: GARD:7015
database_cross_reference: ICD10CM:D32.9
database_cross_reference: ICDO:9530/0
database_cross_reference: NCI:C3230
database_cross_reference: UMLS_CUI:C0025286
has_exact_synonym: meningeal neoplasm
has_exact_synonym: meningothelial cell tumor
has_exact_synonym: neoplasm of the meninges
has_exact_synonym: primary Meningeal tumor
has_obo_namespace: disease_ontology
id: DOID:3565
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim

brain cancer
type: Class
subclass of: brain disease
subclass of: DOID 3620
definition: A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
has_alternative_id: DOID:2125
has_alternative_id: DOID:2126
has_alternative_id: DOID:3543
has_alternative_id: DOID:6649
has_alternative_id: DOID:911
database_cross_reference: ICD10CM:C71
database_cross_reference: ICD9CM:191
database_cross_reference: ICD9CM:239.6
database_cross_reference: MESH:D001932
database_cross_reference: NCI:C170814
database_cross_reference: NCI:C2907
database_cross_reference: NCI:C3568
database_cross_reference: NCI:C5115
database_cross_reference: NCI:C7710
database_cross_reference: SNOMEDCT_US_2025_09_01:126952004
database_cross_reference: SNOMEDCT_US_2025_09_01:428061005
database_cross_reference: SNOMEDCT_US_2025_09_01:93727008
database_cross_reference: UMLS_CUI:C0006118
database_cross_reference: UMLS_CUI:C0153633
database_cross_reference: UMLS_CUI:C0220624
database_cross_reference: UMLS_CUI:C0750974
database_cross_reference: UMLS_CUI:C0750979
database_cross_reference: UMLS_CUI:C1334557
has_exact_synonym: BT - Brain tumour
has_exact_synonym: adult brain tumor
has_exact_synonym: adult malignant brain neoplasm
has_exact_synonym: brain neoplasm
has_exact_synonym: brain neoplasm, adult
has_exact_synonym: malignant brain tumour
has_exact_synonym: malignant primary brain neoplasm
has_exact_synonym: malignant primary brain tumor
has_exact_synonym: malignant tumor of Brain
has_exact_synonym: malignant tumor of adult brain
has_exact_synonym: neoplasm of brain
has_exact_synonym: primary brain neoplasm
has_exact_synonym: primary brain tumor
has_exact_synonym: primary malignant neoplasm of brain
has_exact_synonym: tumor of the Brain
has_obo_namespace: disease_ontology
id: DOID:1319
in_subset: DO_CFDE_slim
in_subset: DO_FlyBase_slim
in_subset: DO_RAD_slim
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
in_subset: TopNodes_DOcancerslim
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000955

Axiom
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Meningioma
annotated property: definition
annotated source: brain meningioma
annotated target: 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.

brain glioma
type: Class
subclass of: brain cancer
definition: A brain cancer that has_material_basis_in glial cells.
creation_date: 2011-07-22T12:42:50Z
has_exact_synonym: lower grade glioma
has_obo_namespace: disease_ontology
id: DOID:0060108
in_subset: DO_FlyBase_slim
in_subset: DO_cancer_slim

Axiom
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45700
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma
annotated property: definition
annotated source: brain glioma
annotated target: A brain cancer that has_material_basis_in glial cells.

vulvar benign neoplasm
type: Class
subclass of: vulvar disease
subclass of: female reproductive organ benign neoplasm
definition: A female reproductive organ benign neoplasm that is located_in the vulva.
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060109
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000997

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25220103
annotated property: definition
annotated source: vulvar benign neoplasm
annotated target: A female reproductive organ benign neoplasm that is located_in the vulva.

cervical benign neoplasm
type: Class
subclass of: cervix disease
subclass of: uterine benign neoplasm
definition: A female reproductive organ benign neoplasm that is located_in the cervix.
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060110
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000002

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8400047
annotated property: definition
annotated source: cervical benign neoplasm
annotated target: A female reproductive organ benign neoplasm that is located_in the cervix.

fallopian tube benign neoplasm
type: Class
subclass of: fallopian tube disease
subclass of: female reproductive organ benign neoplasm
definition: A female reproductive organ benign neoplasm that is located_in the fallopian tube.
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060111
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0003889

Axiom
dc:type: ECO_0007637
database_cross_reference: url:http://www.glowm.com/section_view/item/8
annotated property: definition
annotated source: fallopian tube benign neoplasm
annotated target: A female reproductive organ benign neoplasm that is located_in the fallopian tube.

ovarian benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
subclass of: ovarian disease
definition: A female reproductive organ benign neoplasm that is located_in the ovary.
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060112
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000992

ovarian disease
type: Class
subclass of: female reproductive system disease
subclass of: DOID 2277
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A female reproductive system disease that is located_in the ovary.
database_cross_reference: MESH:D010049
database_cross_reference: NCI:C26841
database_cross_reference: SNOMEDCT_US_2025_09_01:5552004
database_cross_reference: UMLS_CUI:C0029928
has_obo_namespace: disease_ontology
id: DOID:1100
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000992

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24992780
annotated property: definition
annotated source: ovarian benign neoplasm
annotated target: A female reproductive organ benign neoplasm that is located_in the ovary.

vaginal benign neoplasm
type: Class
subclass of: vaginal disease
subclass of: female reproductive organ benign neoplasm
definition: A female reproductive organ benign neoplasm that is located_in the vagina.
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060114
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000996

Axiom
dc:type: ECO_0007637
database_cross_reference: url:https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5
annotated property: definition
annotated source: vaginal benign neoplasm
annotated target: A female reproductive organ benign neoplasm that is located_in the vagina.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Nervous_system
annotated property: definition
annotated source: nervous system benign neoplasm
annotated target: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.

sensory system cancer
type: Class
subclass of: sensory system disease
subclass of: nervous system cancer
definition: A nervous system cancer that is located in the sensory system.
creation_date: 2011-07-25T01:51:56Z
has_obo_namespace: disease_ontology
id: DOID:0060116
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032

nervous system cancer
type: Class
subclass of: nervous system disease
subclass of: organ system cancer
definition: An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
has_alternative_id: DOID:1193
has_alternative_id: DOID:3195
has_alternative_id: DOID:4695
database_cross_reference: ICD9CM:192.9
database_cross_reference: MESH:D009380
database_cross_reference: NCI:C35562
database_cross_reference: SNOMEDCT_US_2025_09_01:188306000
database_cross_reference: UMLS_CUI:C0027665
database_cross_reference: UMLS_CUI:C0153643
database_cross_reference: UMLS_CUI:C1334956
has_exact_synonym: malignant neoplasm of nervous system
has_exact_synonym: neoplasm of nervous system
has_exact_synonym: nervous system neoplasm
has_exact_synonym: neural neoplasm
has_exact_synonym: neural tumor
has_exact_synonym: tumor of the nervous system
has_obo_namespace: disease_ontology
id: DOID:3093
in_subset: NCIthesaurus
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001016

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system
annotated property: definition
annotated source: sensory system cancer
annotated target: A nervous system cancer that is located in the sensory system.

peritoneal benign neoplasm
type: Class
subclass of: thoracic benign neoplasm
definition: A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
creation_date: 2011-07-25T02:20:33Z
has_obo_namespace: disease_ontology
id: DOID:0060117
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002358

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Peritoneal
annotated property: definition
annotated source: peritoneal benign neoplasm
annotated target: A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.

disease of anatomical entity
type: Class
subclass of: disease
definition: A disease that manifests in a defined anatomical structure.
has_alternative_id: DOID:1
has_alternative_id: DOID:2
has_alternative_id: DOID:5
has_alternative_id: DOID:71
has_alternative_id: DOID:72
has_alternative_id: DOID:8
has_obo_namespace: disease_ontology
id: DOID:7
in_subset: DO_RAD_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Thoracic_cavity
annotated property: definition
annotated source: thoracic disease
annotated target: A disease of anatomical entity that is located_in the thoracic cavity.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pharynx
annotated property: definition
annotated source: pharynx cancer
annotated target: A gastrointestinal system cancer that is located_in the pharynx.

obsolete skeletal system benign neoplasm
type: Class
creation_date: 2011-07-27T01:46:00Z
has_obo_namespace: disease_ontology
id: DOID:0060120
owl:deprecated: true

integumentary system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: integumentary system disease
definition: An organ system benign neoplasm located_in the integumentary system organs.
creation_date: 2011-07-27T01:49:44Z
has_obo_namespace: disease_ontology
id: DOID:0060121
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002416

integumentary system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
has_obo_namespace: disease_ontology
id: DOID:16
in_subset: DO_AGR_slim
in_subset: DO_CFDE_slim
in_subset: DO_GXD_slim
in_subset: DO_MGI_slim
equivalent class: Class
  intersection of: disease
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002416

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Integumentary_system
annotated property: definition
annotated source: integumentary system benign neoplasm
annotated target: An organ system benign neoplasm located_in the integumentary system organs.

integumentary system cancer
type: Class
subclass of: organ system cancer
subclass of: integumentary system disease
definition: An organ system cancer that is located_in the skin, hair and nails.
creation_date: 2011-07-27T02:31:34Z
has_obo_namespace: disease_ontology
id: DOID:0060122
equivalent class: Class
  intersection of: cancer
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002416

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Integumentary_system
annotated property: definition
annotated source: integumentary system cancer
annotated target: An organ system cancer that is located_in the skin, hair and nails.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm
annotated property: definition
annotated source: connective tissue benign neoplasm
annotated target: A musculoskeletal system benign neoplasm that is located_in connective tissue.

heavy chain disease
type: Class
subclass of: hypersensitivity reaction type IV disease
definition: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
creation_date: 2011-08-22T11:23:09Z
database_cross_reference: ICD10CM:C88.2
database_cross_reference: ICDO:9762/3
database_cross_reference: MESH:D006362
database_cross_reference: NCI:C3082
database_cross_reference: NCI:C3083
database_cross_reference: NCI:C3892
database_cross_reference: SNOMEDCT_US_2025_09_01:61493004
database_cross_reference: SNOMEDCT_US_2025_09_01:6381009
database_cross_reference: SNOMEDCT_US_2025_09_01:68979007
database_cross_reference: UMLS_CUI:C0018852
database_cross_reference: UMLS_CUI:C0018854
database_cross_reference: UMLS_CUI:C0242310
has_obo_namespace: disease_ontology
id: DOID:0060125
in_subset: NCIthesaurus

hypersensitivity reaction type IV disease
type: Class
subclass of: hypersensitivity reaction disease
definition: 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.
database_cross_reference: ICD10CM:C88.90
database_cross_reference: MESH:D007160
database_cross_reference: SNOMEDCT_US_2025_09_01:127071007
database_cross_reference: UMLS_CUI:C0021070
has_obo_namespace: disease_ontology
has_related_synonym: immunoproliferative disease
id: DOID:2916

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated property: definition
annotated source: heavy chain disease
annotated target: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.

alpha chain disease
type: Class
subclass of: heavy chain disease
definition: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
creation_date: 2011-08-22T11:23:09Z
has_exact_synonym: Seligmann's disease
has_obo_namespace: disease_ontology
id: DOID:0060126

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated property: definition
annotated source: alpha chain disease
annotated target: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).

gamma heavy chain disease
type: Class
subclass of: heavy chain disease
definition: A heavy chain disease that results from an overproduction of gamma antibody (IgG).
creation_date: 2011-08-22T11:23:09Z
database_cross_reference: GARD:10346
has_exact_synonym: Franklin's disease
has_obo_namespace: disease_ontology
id: DOID:0060127
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/2509855/
annotated property: definition
annotated source: gamma heavy chain disease
annotated target: A heavy chain disease that results from an overproduction of gamma antibody (IgG).

mu chain disease
type: Class
subclass of: heavy chain disease
definition: A heavy chain disease that results from an overproduction of mu antibody (IgM).
creation_date: 2011-08-22T11:23:09Z
has_obo_namespace: disease_ontology
id: DOID:0060128

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated property: definition
annotated source: mu chain disease
annotated target: A heavy chain disease that results from an overproduction of mu antibody (IgM).

delta chain disease
type: Class
subclass of: heavy chain disease
definition: A heavy chain disease that results from an overproduction of delta antibody (IgD).
creation_date: 2011-08-22T11:23:09Z
has_obo_namespace: disease_ontology
id: DOID:0060129

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease
annotated property: definition
annotated source: delta chain disease
annotated target: A heavy chain disease that results from an overproduction of delta antibody (IgD).

akinetopsia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of motion perception.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060130

agnosia
type: Class
subclass of: DOID 2033
definition: 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.
has_alternative_id: DOID:4019
database_cross_reference: GARD:8
database_cross_reference: ICD10CM:R48.1
database_cross_reference: MESH:D000377
database_cross_reference: NCI:C84542
database_cross_reference: SNOMEDCT_US_2025_09_01:42341009
database_cross_reference: UMLS_CUI:C0001816
has_exact_synonym: Dyspraxia
has_exact_synonym: Dyspraxia syndrome
has_obo_namespace: disease_ontology
id: DOID:4090
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: akinetopsia
annotated target: An agnosia that is a loss of motion perception.

alexithymia
type: Class
subclass of: agnosia
definition: An agnosia that is a deficiency in understanding, processing, or describing emotions.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060131

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: alexithymia
annotated target: An agnosia that is a deficiency in understanding, processing, or describing emotions.

amusia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: receptive amusia
has_obo_namespace: disease_ontology
id: DOID:0060132

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: amusia
annotated target: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.

anosognosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060133

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: anosognosia
annotated target: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.

apperceptive agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to distinguish visual shapes.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060134

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: apperceptive agnosia
annotated target: An agnosia that is a loss of the ability to distinguish visual shapes.

apraxia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
creation_date: 2011-08-22T12:04:56Z
database_cross_reference: GARD:5838
database_cross_reference: ICD10CM:R48.2
database_cross_reference: MESH:D001072
database_cross_reference: NCI:C180557
database_cross_reference: SNOMEDCT_US_2025_09_01:271724003
database_cross_reference: UMLS_CUI:C0003635
has_obo_namespace: disease_ontology
id: DOID:0060135
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: apraxia
annotated target: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.

associative agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060136

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: associative agnosia
annotated target: 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
type: Class
subclass of: agnosia
definition: 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.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060137

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: auditory agnosia
annotated target: 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
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to orient parts of the body.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060138

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: autotopagnosia
annotated target: An agnosia that is a loss of the ability to orient parts of the body.

color agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060139

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: color agnosia
annotated target: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.

cortical deafness
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060140

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: cortical deafness
annotated target: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.

finger agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to distinguish the fingers on the hand.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060141

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: finger agnosia
annotated target: An agnosia that is a loss of the ability to distinguish the fingers on the hand.

form agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060142

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: form agnosia
annotated target: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.

integrative agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060143

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: integrative agnosia
annotated target: 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
type: Class
subclass of: agnosia
definition: 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.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060144

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: mirror agnosia
annotated target: 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
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to perceive and process pain.
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: analgesia
has_obo_namespace: disease_ontology
id: DOID:0060145

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: pain agnosia
annotated target: An agnosia that is a loss of the ability to perceive and process pain.

phonagnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognize familiar voices.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060146

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: phonagnosia
annotated target: An agnosia that is a loss of the ability to recognize familiar voices.

semantic agnosia
type: Class
subclass of: agnosia
definition: 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.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060147

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: semantic agnosia
annotated target: 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
type: Class
subclass of: agnosia
definition: 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.
creation_date: 2011-08-22T12:04:56Z
database_cross_reference: GARD:11943
has_obo_namespace: disease_ontology
id: DOID:0060148
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: simultanagnosia
annotated target: 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
type: Class
subclass of: agnosia
definition: 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.
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: expressive agnosia
has_obo_namespace: disease_ontology
id: DOID:0060149

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: social emotional agnosia
annotated target: 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.

astereognosia
type: Class
subclass of: agnosia
definition: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: somatosensory agnosia
has_obo_namespace: disease_ontology
id: DOID:0060150

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: astereognosia
annotated target: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.

tactile agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060151

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: tactile agnosia
annotated target: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.

time agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to comprehend the succession and duration of events.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060152

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: time agnosia
annotated target: An agnosia that is a loss of the ability to comprehend the succession and duration of events.

topographical agnosia
type: Class
subclass of: visual agnosia
definition: 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.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060153

visual agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to visually recognize objects.
creation_date: 2011-08-22T12:04:56Z
database_cross_reference: MESH:C531604
database_cross_reference: UMLS_CUI:C2930796
has_obo_namespace: disease_ontology
id: DOID:0060155

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: topographical agnosia
annotated target: 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.

verbal auditory agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060154

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: verbal auditory agnosia
annotated target: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: visual agnosia
annotated target: An agnosia that is a loss of the ability to visually recognize objects.

visual verbal agnosia
type: Class
subclass of: visual agnosia
definition: An agnosia that is a loss of the ability to comprehending the meaning of written words.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060156

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia
annotated property: definition
annotated source: visual verbal agnosia
annotated target: An agnosia that is a loss of the ability to comprehending the meaning of written words.

diffuse alopecia areata
type: Class
subclass of: alopecia areata
definition: An alopecia areata that involves diffuse loss of hair over the whole scalp.
creation_date: 2011-08-22T03:45:02Z
database_cross_reference: SNOMEDCT_US_2025_09_01:46586006
database_cross_reference: UMLS_CUI:C0263479
has_obo_namespace: disease_ontology
id: DOID:0060157

alopecia areata
type: Class
subclass of: autoimmune disease of skin and connective tissue
subclass of: Restriction
  on property: RO_0004026
  some values from: Class
    intersection of: UBERON_0000014
    intersection of: UBERON_0002384
definition: An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
database_cross_reference: EFO:0004192
database_cross_reference: GARD:5782
database_cross_reference: ICD10CM:L63
database_cross_reference: ICD9CM:704.01
database_cross_reference: MESH:D000506
database_cross_reference: MIM:104000
database_cross_reference: MIM:610753
database_cross_reference: SNOMEDCT_US_2025_09_01:201131001
database_cross_reference: UMLS_CUI:C0002171
has_exact_synonym: Circumscribed alopecia
has_obo_namespace: disease_ontology
id: DOID:986
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Alopecia_areata
annotated property: definition
annotated source: diffuse alopecia areata
annotated target: An alopecia areata that involves diffuse loss of hair over the whole scalp.

Axiom
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/mesh/68008659
annotated property: definition
annotated source: acquired metabolic disease
annotated target: 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.

organic acidemia
type: Class
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
creation_date: 2011-08-26T11:17:14Z
database_cross_reference: GARD:9433
has_exact_synonym: organic acid metabolism disorder
has_exact_synonym: organic aciduria
has_obo_namespace: disease_ontology
id: DOID:0060159
in_subset: DO_rare_slim

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Aciduria
annotated property: definition
annotated source: organic acidemia
annotated target: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy
annotated property: definition
annotated source: childhood spinal muscular atrophy
annotated target: 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.

Kennedy's disease
type: Class
subclass of: X-linked recessive disease
subclass of: spinal muscular atrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002257
definition: 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.
creation_date: 2011-08-29T01:31:03Z
database_cross_reference: GARD:6818
database_cross_reference: MESH:D055534
database_cross_reference: MIM:313200
database_cross_reference: NCI:C85233
database_cross_reference: SNOMEDCT_US_2025_09_01:230253001
database_cross_reference: UMLS_CUI:C1839259
has_exact_synonym: Kennedy disease
has_exact_synonym: SBMA
has_exact_synonym: Spinobulbar Muscular Atrophy
has_exact_synonym: X-Linked Bulbo-Spinal Atrophy
has_exact_synonym: X-linked Spinal and Bulbar Muscular Atrophy
has_exact_synonym: spinal bulbar muscular atrophy
has_obo_namespace: disease_ontology
id: DOID:0060161
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Kennedy_disease
annotated property: definition
annotated source: Kennedy's disease
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: Kennedy's disease
annotated target: SBMA

dentatorubral-pallidoluysian atrophy
type: Class
subclass of: autosomal dominant cerebellar ataxia
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0002503
definition: 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.
creation_date: 2011-08-29T01:41:48Z
database_cross_reference: GARD:5643
database_cross_reference: MESH:D020191
database_cross_reference: MIM:125370
database_cross_reference: NCI:C122653
database_cross_reference: SNOMEDCT_US_2025_09_01:702422004
database_cross_reference: UMLS_CUI:C0751781
has_exact_synonym: DRPLA
has_exact_synonym: Haw River Syndrome
has_exact_synonym: Naito-Oyanagi disease
has_obo_namespace: disease_ontology
id: DOID:0060162
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy
annotated property: definition
annotated source: dentatorubral-pallidoluysian atrophy
annotated target: 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.

Axiom
has_synonym_type: acronym
annotated property: has_exact_synonym
annotated source: dentatorubral-pallidoluysian atrophy
annotated target: DRPLA

body dysmorphic disorder
type: Class
subclass of: somatoform disorder
definition: A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
creation_date: 2011-09-07T01:38:34Z
has_exact_synonym: body dysmorphia
has_exact_synonym: dysmorphic syndrome
has_exact_synonym: dysmorphophobia
has_obo_namespace: disease_ontology
id: DOID:0060163

somatoform disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
has_alternative_id: DOID:10133
has_alternative_id: DOID:144
database_cross_reference: ICD10CM:F45.0
database_cross_reference: ICD9CM:300.81
database_cross_reference: MESH:D013001
database_cross_reference: SNOMEDCT_US_2025_09_01:60368009
database_cross_reference: UMLS_CUI:C0520482
database_cross_reference: ICD10CM:F45
database_cross_reference: ICD9CM:300.8
database_cross_reference: NCI:C34956
database_cross_reference: SNOMEDCT_US_2025_09_01:31297008
database_cross_reference: UMLS_CUI:C0037650
has_exact_synonym: physiological malfunction arising from mental factor
has_exact_synonym: psychophysiologic disorder
has_exact_synonym: psychosomatic disorder
has_obo_namespace: disease_ontology
id: DOID:4737
in_subset: DO_RAD_slim
in_subset: NCIthesaurus

Axiom
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Body_dysmorphic_disorder
annotated property: definition
annotated source: body dysmorphic disorder
annotated target: A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).