Human Disease Ontology
type: Ontology
version IRI: doid.owl
imports: ext.owl
has_ontology_root_term: DOID 4
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.
license: https://creativecommons.org/publicdomain/zero/1.0/
date: 30:01:2023 17:29
default-namespace: disease_ontology
has_obo_format_version: 1.2
saved-by: lschriml
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/).

definition
type: AnnotationProperty

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.

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

has_ontology_root_term
type: AnnotationProperty
definition: Has ontology root term.

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

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

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

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

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_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

description
type: AnnotationProperty
definition: Description.

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

title
type: AnnotationProperty
definition: Title.

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

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

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

license
type: AnnotationProperty
definition: License.

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

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

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

auto-generated-by
type: AnnotationProperty

created_by
type: AnnotationProperty
definition: Author of the class.

Axiom
annotated source: created_by
annotated property: definition
annotated target: Author of the class.
database_cross_reference: url:http://www.geneontology.org/formats/oboInOwl#created_by

creation_date
type: AnnotationProperty
definition: Date class was created.

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

date
type: AnnotationProperty
definition: Date.

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

default-namespace
type: AnnotationProperty
definition: Default namespace.

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

has_alternative_id
type: AnnotationProperty
definition: ID of merged class.

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

has_broad_synonym
type: AnnotationProperty
definition: Broad synonym.

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

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

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

has_exact_synonym
type: AnnotationProperty
definition: Exact synonym.

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

has_narrow_synonym
type: AnnotationProperty
definition: Narrow synonym.

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

has_obo_format_version
type: AnnotationProperty
definition: Has OBO format version.

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

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

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

has_related_synonym
type: AnnotationProperty
definition: Has related synonym.

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

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.

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

in_subset
type: AnnotationProperty
definition: In subset.

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

saved-by
type: AnnotationProperty
definition: Saved by.

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

comment
type: AnnotationProperty
definition: Comment.

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

rdfs:isDefinedBy
definition: Is defined by.

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

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

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

owl:deprecated
type: AnnotationProperty
definition: OWL deprecated.

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

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

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

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

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

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

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

has material basis in
type: ObjectProperty

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

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

angiosarcoma
type: Class
subclass of: DOID 175
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_2022_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

Axiom
annotated source: angiosarcoma
annotated property: definition
annotated target: A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels.
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

pterygium
type: Class
subclass of: DOID_10124
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.
created_by: laronhughes
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

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

disease of metabolism
type: Class
subclass of: DOID 4
definition: A disease that involving 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_2022_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
annotated source: disease of metabolism
annotated property: definition
annotated target: A disease that involving errors in metabolic processes of building or degradation of molecules.
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK22259/

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

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

aspirin allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_15365
definition: A drug allergy that has_allergic_trigger acetylsalicylic acid.
database_cross_reference: SNOMEDCT_US_2022_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

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

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_2022_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

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

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_2022_09_01:294505008
database_cross_reference: UMLS_CUI:C0571417
has_obo_namespace: disease_ontology
id: DOID:0040004
in_subset: DO_IEDB_slim

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

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_2022_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

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

carbamazepine allergy
type: Class
subclass of: drug allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI 3387
definition: A drug allergy that has_allergic_trigger carbamazepine.
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: carbamazepine allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger carbamazepine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7602118
comment: IEDB:RV

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

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

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_2022_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
annotated source: lidocaine allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger lidocaine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9013953
comment: IEDB:RV

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

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_2022_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
annotated source: phenobarbital allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger phenobarbital.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11994495
comment: IEDB:RV

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_2022_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
annotated source: phenytoin allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger phenytoin.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7602118
comment: IEDB:RV

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_2022_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
annotated source: ranitidine allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger ranitidine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7782125
comment: IEDB:RV

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

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_2022_09_01:91939003
database_cross_reference: UMLS_CUI:C0038757
has_obo_namespace: disease_ontology
id: DOID:0040015
in_subset: DO_IEDB_slim

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

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

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

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_2022_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
annotated source: thiopental allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger thiopental.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2215478
comment: IEDB:RV

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_2022_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
annotated source: D-mannitol allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger D-mannitol.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15479277
comment: IEDB:RV

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_2022_09_01:294545004
database_cross_reference: UMLS_CUI:C0571457
has_obo_namespace: disease_ontology
id: DOID:0040020
in_subset: DO_IEDB_slim

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

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_2022_09_01:294532003
database_cross_reference: UMLS_CUI:C0571444
has_obo_namespace: disease_ontology
id: DOID:0040021
in_subset: DO_IEDB_slim

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

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_2022_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
annotated source: amodiaquine allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger amodiaquine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1959977
comment: IEDB:RV

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_2022_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
annotated source: cefaclor allergy
annotated property: definition
annotated target: A cephalosporin allergy that has_allergic_trigger cefaclor.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12569987
comment: IEDB:RV

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_2022_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
annotated source: ceftazidime allergy
annotated property: definition
annotated target: A cephalosporin allergy that has_allergic_trigger ceftazidime.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12833570
comment: IEDB:RV

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_2022_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
annotated source: cefuroxime allergy
annotated property: definition
annotated target: A cephalosporin allergy that has_allergic_trigger cefuroxime.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12833570
comment: IEDB:RV

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_2022_09_01:294431008
database_cross_reference: UMLS_CUI:C0571344
has_obo_namespace: disease_ontology
id: DOID:0040026
in_subset: DO_IEDB_slim

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

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_2022_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
annotated source: cyclophosphamide allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger cyclophosphamide.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8024619
comment: IEDB:RV

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_2022_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
annotated source: succinylcholine allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger succinylcholine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2410473
comment: IEDB:RV

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_2022_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
annotated source: trimethoprim allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger trimethoprim.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3377143
comment: IEDB:RV

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_2022_09_01:294548002
database_cross_reference: UMLS_CUI:C0571460
has_obo_namespace: disease_ontology
id: DOID:0040030
in_subset: DO_IEDB_slim

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

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_2022_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
annotated source: diclofenac allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger diclofenac.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21060839
comment: IEDB:RV

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_2022_09_01:294531005
database_cross_reference: UMLS_CUI:C0571443
has_obo_namespace: disease_ontology
id: DOID:0040032
in_subset: DO_IEDB_slim

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

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_2022_09_01:294515002
database_cross_reference: UMLS_CUI:C0571427
has_obo_namespace: disease_ontology
id: DOID:0040033
in_subset: DO_IEDB_slim

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

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_2022_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
annotated source: rocuronium allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger rocuronium.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17667569
comment: IEDB:RV

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_2022_09_01:293663001
database_cross_reference: UMLS_CUI:C0570587
has_obo_namespace: disease_ontology
id: DOID:0040035
in_subset: DO_IEDB_slim

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

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_2022_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
annotated source: tubocurarine allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger tubocurarine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2215478
comment: IEDB:RV

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_2022_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
annotated source: aztreonam allergy
annotated property: definition
annotated target: A beta-lactam allergy that has_allergic_trigger aztreonam.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1991925
comment: IEDB:RV

meropenem allergy
type: Class
subclass of: DOID 9415
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

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

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

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

isocyanates allergic asthma
type: Class
subclass of: DOID 9415
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
annotated source: isocyanates allergic asthma
annotated property: definition
annotated target: An allergic asthma that has_allergic_trigger isocyanates.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3349596
comment: IEDB:RV

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

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

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

nickel allergic asthma
type: Class
subclass of: metal allergy
subclass of: DOID 9415
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

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

nickel allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: DOID 3042
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

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

trimellitic anhydride allergic asthma
type: Class
subclass of: DOID 9415
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
annotated source: trimellitic anhydride allergic asthma
annotated property: definition
annotated target: An allergic asthma that has_allergic_trigger trimellitic anhydride.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6643876
comment: IEDB:RV

phthalic anhydride allergic asthma
type: Class
subclass of: DOID 9415
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
annotated source: phthalic anhydride allergic asthma
annotated property: definition
annotated target: An allergic asthma that has_allergic_trigger phthalic anhydride.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3711550
comment: IEDB:RV

maleic anhydride allergic asthma
type: Class
subclass of: DOID 9415
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
annotated source: maleic anhydride allergic asthma
annotated property: definition
annotated target: An allergic asthma that has_allergic_trigger maleic anhydride.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3711550
comment: IEDB:RV

tetrachlorophthalic anhydride allergic asthma
type: Class
subclass of: DOID 9415
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
annotated source: tetrachlorophthalic anhydride allergic asthma
annotated property: definition
annotated target: An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3711550
comment: IEDB:RV

hexahydrophthalic anhydride allergic asthma
type: Class
subclass of: DOID 9415
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
annotated source: hexahydrophthalic anhydride allergic asthma
annotated property: definition
annotated target: An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/4008795
comment: IEDB:RV

diphenylmethane-4,4'-diisocyanate allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  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
annotated source: diphenylmethane-4,4'-diisocyanate allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6296214
comment: IEDB:RV

cobalt allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  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
annotated source: cobalt allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger cobalt atom.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8566016
comment: IEDB:RV

cobalt allergic asthma
type: Class
subclass of: metal allergy
subclass of: DOID 9415
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
annotated source: cobalt allergic asthma
annotated property: definition
annotated target: An allergic asthma that has_allergic_trigger cobalt atom.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7444839
comment: IEDB:RV

palladium allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: DOID 3042
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
annotated source: palladium allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger palladium.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25097477
comment: IEDB:RV

chromium allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_28073
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
annotated source: chromium allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger chromium atom.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1108802
comment: IEDB:RV

benzoic acid allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_30746
definition: An allergic contact dermatitis that has_allergic_trigger benzoic acid.
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: benzoic acid allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger benzoic acid.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25097477
comment: IEDB:RV

1,4-phenylenediamine allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_51403
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
annotated source: 1,4-phenylenediamine allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8400900
comment: IEDB:RV

potassium dichromate allergic contact dermatitis
type: Class
subclass of: metal allergy
subclass of: DOID 3042
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
annotated source: potassium dichromate allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger potassium dichromate.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15462465
comment: IEDB:RV

ketoprofen photoallergic dermatitis
type: Class
subclass of: drug allergy
subclass of: DOID 3818
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_2022_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

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

remazole black respiratory allergy
type: Class
subclass of: respiratory allergy
subclass of: metal 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

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

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

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

carvone allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_15400
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
annotated source: carvone allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger (-)-carvone.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11380545
comment: IEDB:RV

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_2022_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
annotated source: quinidine allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger quinidine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
comment: IEDB:RV

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_2022_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
annotated source: melphalan allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger melphalan.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
comment: IEDB:RV

neomycin sulfate allergic contact dermatitis
type: Class
subclass of: drug allergy
subclass of: DOID 3042
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
definition: An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: neomycin sulfate allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21616561
comment: IEDB:RV

4-tert-butylphenol allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_34444
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
annotated source: 4-tert-butylphenol allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8462290
comment: IEDB:RV

1-chloro-2,4-dinitrobenzene allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_34718
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
annotated source: 1-chloro-2,4-dinitrobenzene allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17008874
comment: IEDB:RV

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_2022_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
annotated source: co-trimoxazole allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger co-trimoxazole.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
comment: IEDB:RV

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_2022_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
annotated source: sodium aurothiomalate allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger sodium aurothiomalate.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/445303
comment: IEDB:RV

parthenolide allergic contact dermatitis
type: Class
subclass of: DOID 3042
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
annotated source: parthenolide allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger parthenolide.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17986299
comment: IEDB:RV

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

formaldehyde allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_16842
definition: An allergic contact dermatitis that has_allergic_trigger formaldehyde.
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: formaldehyde allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger formaldehyde.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7902023
comment: IEDB:RV

benzo[d]isothiazol-3-one allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_167099
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
annotated source: benzo[d]isothiazol-3-one allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6446435
comment: IEDB:RV

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_2022_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
annotated source: phthalyl group allergy
annotated property: definition
annotated target: A drug allergy that has_allergic_trigger phthalyl group.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7400667
comment: IEDB:RV

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

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_2022_09_01:294229002
database_cross_reference: UMLS_CUI:C0571145
has_obo_namespace: disease_ontology
id: DOID:0040078
in_subset: DO_IEDB_slim

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

2,4-dinitrophenyl allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_53018
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
annotated source: 2,4-dinitrophenyl allergic contact dermatitis
annotated property: definition
annotated target: An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17008874
comment: IEDB:RV

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

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

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

Chlamydia pneumonia
type: Class
subclass of: DOID 874
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

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

Streptococcus pneumonia
type: Class
subclass of: DOID 874
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
annotated source: Streptococcus pneumonia
annotated property: definition
annotated target: A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26396191
comment: IEDB:RV

bacterial sepsis
type: Class
subclass of: DOID 104
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

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

Polyomavirus-associated nephropathy
type: Class
subclass of: DOID_11266
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.
database_cross_reference: SNOMEDCT_US_2022_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

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

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

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

autoimmune uveitis
type: Class
subclass of: autoimmune disease of eyes, ear, nose and throat
subclass of: DOID 3480
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

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

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

autoimmune gastritis
type: Class
subclass of: autoimmune disease of gastrointestinal tract
subclass of: DOID 76
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

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

autoimmune pancreatitis
type: Class
subclass of: autoimmune disease of endocrine system
subclass of: DOID 26
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_2022_09_01:448542008
database_cross_reference: UMLS_CUI:C2609129
has_obo_namespace: disease_ontology
id: DOID:0040091
in_subset: DO_IEDB_slim

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

juvenile ankylosing spondylitis
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011462
definition: An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood.
database_cross_reference: ICD10CM:M08.1
database_cross_reference: SNOMEDCT_US_2022_09_01:201802002
database_cross_reference: UMLS_CUI:C0409675
has_obo_namespace: disease_ontology
id: DOID:0040092
in_subset: DO_IEDB_slim

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

drug-induced lupus erythematosus
type: Class
subclass of: DOID 8857
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: NCI:C114354
database_cross_reference: ORDO:231111
database_cross_reference: SNOMEDCT_US_2022_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

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

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

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

autoimmune cardiomyopathy
type: Class
subclass of: autoimmune disease of cardiovascular system
subclass of: DOID 114
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

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

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

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_2022_09_01:427213005
database_cross_reference: UMLS_CUI:C1328843
has_obo_namespace: disease_ontology
id: DOID:0040097
in_subset: DO_IEDB_slim

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

pemphigus gestationis
type: Class
subclass of: DOID 9182
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

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

livedoid vasculitis
type: Class
subclass of: DOID 865
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

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

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_2022_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
annotated source: Hirata disease
annotated property: definition
annotated target: An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10445096
comment: IEDB:RV

N,N'-diphenylthiourea allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_138412
definition: An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.
has_exact_synonym: neoprene allergy
has_obo_namespace: disease_ontology
id: DOID:0040101
in_subset: DO_IEDB_slim

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

N,N'-diethylthiourea allergic contact dermatitis
type: Class
subclass of: DOID 3042
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_82448
definition: An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.
has_exact_synonym: neoprene allergy
has_obo_namespace: disease_ontology
id: DOID:0040102
in_subset: DO_IEDB_slim

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

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

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

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: DOID_10400
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_2022_09_01:301990003
database_cross_reference: UMLS_CUI:C0578661
has_obo_namespace: disease_ontology
id: DOID:0050004
in_subset: DO_infectious_disease_slim

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

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
annotated source: obsolete intestinal strongyloidiasis
annotated property: definition
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.
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

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
annotated source: obsolete Mansonella perstans infectious disease
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm

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
annotated source: obsolete Mansonella streptocerca infectious disease
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm

chikungunya
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_37124
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, 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: zoonotic_infectious_disease

Axiom
annotated source: chikungunya
annotated property: definition
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chikungunya_virus

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

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

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
annotated source: obsolete Rocio virus encephalitis
annotated property: definition
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.
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

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: DOID_10242
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

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

human monocytic ehrlichiosis
type: Class
subclass of: DOID_10242
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: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease

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

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

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

African tick-bite fever
type: Class
subclass of: DOID_11104
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

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

Astrakhan spotted fever
type: Class
subclass of: DOID_11104
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
annotated source: Astrakhan spotted fever
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html

Indian tick typhus
type: Class
subclass of: DOID_11104
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
annotated source: Indian tick typhus
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://www.biomedcentral.com/1471-2180/5/11
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html

Israeli tick typhus
type: Class
subclass of: DOID_11104
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
annotated source: Israeli tick typhus
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://www.biomedcentral.com/1471-2180/5/11
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html

Far Eastern spotted fever
type: Class
subclass of: DOID_11104
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
annotated source: Far Eastern spotted fever
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html

Flinders Island spotted fever
type: Class
subclass of: DOID_11104
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
annotated source: Flinders Island spotted fever
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://www.cdc.gov/otherspottedfever/imported/index.html

Japanese spotted fever
type: Class
subclass of: DOID_11104
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
annotated source: Japanese spotted fever
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

Rickettsia parkeri spotted fever
type: Class
subclass of: DOID_11104
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
annotated source: Rickettsia parkeri spotted fever
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html

Rocky Mountain spotted fever
type: Class
subclass of: DOID_11104
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: Brazillian 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: gram-negative_bacterial_infectious_disease
in_subset: tick-borne_infectious_disease
in_subset: zoonotic_infectious_disease

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

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: DOID_13386
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

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

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

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

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_41283
    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

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

invasive aspergillosis
type: Class
subclass of: DOID_13564
subclass of: DOID 850
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: DOID 552
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

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

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

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: DOID 5113
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

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

obsolete rhinotracheitis
type: Class
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
comment: Not a human disease.
owl:deprecated: true

Axiom
annotated source: obsolete rhinotracheitis
annotated property: definition
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.
dc:type: ECO_0007643

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

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
annotated source: obsolete cutaneous mucormycosis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm

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
annotated source: obsolete gastrointestinal mucormycosis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16020690

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
annotated source: obsolete pulmonary mucormycosis
annotated property: definition
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.
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

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
annotated source: obsolete rhinocerebral mucormycosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.merck.com/mmhe/sec17/ch197/ch197h.html

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

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
annotated source: obsolete pulmonary paracoccidioidomycosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/

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
annotated source: obsolete disseminated sporotrichosis
annotated property: definition
annotated target: A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sporotrichosis

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
annotated source: obsolete lymphocutaneous sporotrichosis
annotated property: definition
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.
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/

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
annotated source: obsolete pulmonary sporotrichosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sporotrichosis

tinea barbae
type: Class
subclass of: DOID 37
subclass of: DOID 8913
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

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

ectothrix infectious disease
type: Class
subclass of: DOID 421
subclass of: DOID 4337
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

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

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
annotated source: obsolete Microsporum audouinii tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html

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
annotated source: obsolete Microsporum canis tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html

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
annotated source: obsolete Microsporum distortum tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html

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
annotated source: obsolete Microsporum ferrugineum tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html

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
annotated source: obsolete Microsporum gypseum tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

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
annotated source: obsolete Microsporum nanum tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

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
annotated source: obsolete Trichophyton verrucosum tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html

endothrix infectious disease
type: Class
subclass of: DOID 421
subclass of: DOID 4337
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
annotated source: endothrix infectious disease
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/

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
annotated source: obsolete Trichophyton soudanense tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html

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
annotated source: obsolete Trichophyton tonsurans tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html

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
annotated source: obsolete Trichophyton violaceum tinea capitis
annotated property: definition
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.
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

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
annotated source: obsolete Trichophyton schoenleinii tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html

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
annotated source: obsolete Microsporum fulvum tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html

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
annotated source: obsolete Trichophyton megninii tinea capitis
annotated property: definition
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.
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

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
annotated source: obsolete Trichophyton equinum tinea capitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html

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
annotated source: obsolete Trichophyton yaoundei tinea capitis
annotated property: definition
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.
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

tinea imbricata
type: Class
subclass of: DOID_12179
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

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

disease by infectious agent
type: Class
equivalent class: Class
  intersection of: DOID 4
  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
subclass of: DOID 4
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
in_subset: NCIthesaurus
comment: DO:wk

Axiom
annotated source: disease by infectious agent
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726

La Crosse encephalitis
type: Class
subclass of: DOID 934
subclass of: DOID 936
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11577
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon 7162
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, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. 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_2022_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

Axiom
annotated source: La Crosse encephalitis
annotated property: definition
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm

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

hemophagocytic lymphohistiocytosis
type: Class
subclass of: DOID 75
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: NCI:C34792
database_cross_reference: OMIM:PS267700
database_cross_reference: ORDO:540
database_cross_reference: SNOMEDCT_US_2022_09_01:190958003
database_cross_reference: UMLS_CUI:C0024291
has_exact_synonym: haemophagocytic syndrome
has_obo_namespace: disease_ontology
id: DOID:0050120
in_subset: NCIthesaurus
comment: Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].

Axiom
annotated source: hemophagocytic lymphohistiocytosis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

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: DOID_12205
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_12637
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 [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), 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

Axiom
annotated source: dengue shock syndrome
annotated property: definition
annotated target: A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), 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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dengue_shock_syndrome

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

sinusitis
type: Class
subclass of: DOID 1352
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_2022_09_01:195649005
database_cross_reference: UMLS_CUI:C0149512
has_obo_namespace: disease_ontology
id: DOID:0050127
in_subset: NCIthesaurus

Axiom
annotated source: sinusitis
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/sinusitis
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null

secretory diarrhea
type: Class
subclass of: DOID_13250
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: Secretory diarrhea is 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

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

osmotic diarrhea
type: Class
subclass of: DOID_13250
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: Osmotic diarrhea is a dirrhea where diarrhea 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
annotated source: osmotic diarrhea
annotated property: definition
annotated target: Osmotic diarrhea is a dirrhea where diarrhea 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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea

motility-related diarrhea
type: Class
subclass of: DOID_13250
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
definition: Motility-related diarrhea is 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
annotated source: motility-related diarrhea
annotated property: definition
annotated target: Motility-related diarrhea is 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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea

inflammatory diarrhea
type: Class
subclass of: DOID_13250
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
annotated source: inflammatory diarrhea
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea

superficial mycosis
type: Class
subclass of: DOID 1564
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_2022_09_01:266218008
database_cross_reference: SNOMEDCT_US_2022_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
comment: Adding a UMLS CUI for piedra C2980104.

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

cutaneous mycosis
type: Class
subclass of: DOID 1564
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
annotated source: cutaneous mycosis
annotated property: definition
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.
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

subcutaneous mycosis
type: Class
subclass of: DOID 1564
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
annotated source: subcutaneous mycosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses

systemic mycosis
type: Class
subclass of: DOID 1564
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
annotated source: systemic mycosis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007646
database_cross_reference: url:http://dermnetnz.org/fungal/systemic-mycoses.html
database_cross_reference: url:http://www.mycology.adelaide.edu.au/Mycoses/
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006

podoconiosis
type: Class
subclass of: DOID 4976
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

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

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
annotated source: obsolete Opisthorchis felineus infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Opisthorchis_felineus

acute diarrhea
type: Class
subclass of: DOID_13250
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
annotated source: acute diarrhea
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Diarrhea

intestinal botulism
type: Class
subclass of: DOID_11976
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

Axiom
annotated source: intestinal botulism
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

asymptomatic dengue
type: Class
subclass of: DOID_12205
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_12637
definition: A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), 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
annotated source: asymptomatic dengue
annotated property: definition
annotated target: A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms.
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/

Kartagener syndrome
type: Class
subclass of: DOID 9562
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

Axiom
annotated source: Kartagener syndrome
annotated property: definition
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.
dc:type: ECO_0007636
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:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1
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

adenoiditis
type: Class
subclass of: DOID 974
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_2022_09_01:195794009
database_cross_reference: UMLS_CUI:C0396023
has_exact_synonym: chronic adenoiditis
has_obo_namespace: disease_ontology
id: DOID:0050145

Axiom
annotated source: adenoiditis
annotated property: definition
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.
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

otomycosis
type: Class
subclass of: DOID 9463
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

Axiom
annotated source: otomycosis
annotated property: definition
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.
dc:type: ECO_0007638
dc:type: ECO_0007643
database_cross_reference: url:http://en.wikipedia.org/wiki/Otomycosis
database_cross_reference: url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis

laryngotracheitis
type: Class
subclass of: DOID 974
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_2022_09_01:276443001
database_cross_reference: SNOMEDCT_US_2022_09_01:83271005
database_cross_reference: UMLS_CUI:C0155811
database_cross_reference: UMLS_CUI:C0155837
has_obo_namespace: disease_ontology
id: DOID:0050148

Axiom
annotated source: laryngotracheitis
annotated property: definition
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.
dc:type: ECO_0007643

Pontiac fever
type: Class
subclass of: DOID_10458
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

Axiom
annotated source: Pontiac fever
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://www.cdc.gov/legionella/patient_facts.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/623097

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
annotated source: obsolete tracheobronchial tuberculosis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9122509

aspiration pneumonia
type: Class
subclass of: DOID 874
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_2022_09_01:47839005
database_cross_reference: UMLS_CUI:C0032290
has_obo_namespace: disease_ontology
id: DOID:0050152
in_subset: DO_infectious_disease_slim

Axiom
annotated source: aspiration pneumonia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Aspiration_pneumonia

pulmonary aspergilloma
type: Class
subclass of: DOID_13564
subclass of: DOID 850
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
annotated source: pulmonary aspergilloma
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm

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

sensory system disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032
subclass of: DOID 863
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

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

idiopathic pulmonary fibrosis
type: Class
subclass of: DOID 3770
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.
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: OMIM:178500
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: idiopathic pulmonary fibrosis
annotated property: definition
annotated target: A pulmonary fibrosis that is characterized by scarring of the lung.
database_cross_reference: url:https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf

cryptogenic organizing pneumonia
type: Class
subclass of: DOID 2797
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_2022_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: NCIthesaurus

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

desquamative interstitial pneumonia
type: Class
subclass of: DOID 2797
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: NCI:C35288
database_cross_reference: OMIM:263000
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: desquamative interstitial pneumonia
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288
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

lymphoid interstitial pneumonia
type: Class
subclass of: DOID 2797
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
annotated source: lymphoid interstitial pneumonia
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11790668

inhalation anthrax
type: Class
subclass of: DOID 7427
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

Axiom
annotated source: inhalation anthrax
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007640
dc:type: ECO_0007645
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

lower respiratory tract disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001558
subclass of: DOID 1579
definition: A respiratory system disease which involves the lower respiratory tract.
database_cross_reference: ICD9CM:478.19
database_cross_reference: SNOMEDCT_US_2022_09_01:195823002
database_cross_reference: UMLS_CUI:C0029581
has_obo_namespace: disease_ontology
id: DOID:0050161
in_subset: DO_RAD_slim

Axiom
annotated source: lower respiratory tract disease
annotated property: definition
annotated target: A respiratory system disease which involves the lower respiratory tract.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/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 source: obsolete tuberculous mesenteric gland
annotated property: definition
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: DOID 1962
subclass of: DOID 2149
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_2022_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

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

autoimmune polyendocrine syndrome type 1
type: Class
subclass of: DOID_14040
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: OMIM: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

Axiom
annotated source: autoimmune polyendocrine syndrome type 1
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1
comment: sn:IEDB

autoimmune polyendocrine syndrome type 2
type: Class
subclass of: DOID_14040
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: OMIM:269200
has_exact_synonym: Schmidt syndrome
has_obo_namespace: disease_ontology
id: DOID:0050168

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

cutaneous lupus erythematosus
type: Class
equivalent class: Class
  intersection of: DOID 8857
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
subclass of: DOID 37
subclass of: DOID 8857
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

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

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
annotated source: obsolete Jamestown Canyon encephalitis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

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
annotated source: obsolete snowshoe hare encephalitis
annotated property: definition
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.
database_cross_reference: url:http://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php

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
annotated source: obsolete trivittatus encephalitis
annotated property: definition
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.
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

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
annotated source: obsolete inkoo encephalitis
annotated property: definition
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.
dc:type: ECO_0007638
dc:type: ECO_0007645
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
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10025535

Kunjin encephalitis
type: Class
subclass of: DOID 2365
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, 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

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

tick-borne encephalitis
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11084
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, 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_2022_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: tick-borne_infectious_disease

Axiom
annotated source: tick-borne encephalitis
annotated property: definition
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm

monogenic disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004019
    some values from: SO_0000704
subclass of: DOID 630
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

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

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
annotated source: obsolete complex genetic disease
annotated property: definition
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).
database_cross_reference: DO:wk

Powassan encephalitis
type: Class
subclass of: tick-borne encephalitis
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11083
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, 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
annotated source: Powassan encephalitis
annotated property: definition
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, 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.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732952/

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
annotated source: obsolete Colorado tick fever encephalitis
annotated property: definition
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.
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

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
annotated source: obsolete Herpes simplex virus encephalitis
annotated property: definition
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.
database_cross_reference: url:http://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm

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
annotated source: obsolete Varicella-zoster virus encephalitis
annotated property: definition
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.
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

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
annotated source: obsolete Epstein-Barr virus encephalitis
annotated property: definition
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.
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

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
annotated source: obsolete Measles virus encephalitis
annotated property: definition
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.
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/

erythema multiforme
type: Class
subclass of: DOID 1205
subclass of: DOID 37
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

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

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
annotated source: obsolete Cytomegalovirus encephalitis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8815757

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
annotated source: obsolete Rubella virus encephalitis
annotated property: definition
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.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/13489263

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
annotated source: obsolete coxsackievirus encephalitis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14464001

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
annotated source: obsolete polioencephalitis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/13436875

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
annotated source: obsolete adenovirus encephalitis
annotated property: definition
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.
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

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
annotated source: obsolete influenza virus encephalitis
annotated property: definition
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.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/2053792

Nipah virus encephalitis
type: Class
subclass of: DOID 934
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, 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.
has_obo_namespace: disease_ontology
id: DOID:0050192
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
annotated source: Nipah virus encephalitis
annotated property: definition
annotated target: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, 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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://www.cdc.gov/vhf/nipah/index.html
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19141846
database_cross_reference: url:https://www.who.int/csr/disease/nipah/en/

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
annotated source: obsolete Lymphocytic choriomeningitis virus encephalitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm

Argentine hemorrhagic fever
type: Class
subclass of: DOID 934
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, 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

Axiom
annotated source: Argentine hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, 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.
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

Bolivian hemorrhagic fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11628
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, 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
annotated source: Bolivian hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, 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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm

Venezuelan hemorrhagic fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_45219
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, 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.
has_obo_namespace: disease_ontology
id: DOID:0050196
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
annotated source: Venezuelan hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, 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: url:https://pubmed.ncbi.nlm.nih.gov/34917387/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/7840443/

Brazilian hemorrhagic fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_2169992
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, 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
annotated source: Brazilian hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, 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.
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

Chapare hemorrhagic fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_499556
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. 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
annotated source: Chapare hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding.
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377

Whitewater Arroyo hemorrhagic fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_46919
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, 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
annotated source: Whitewater Arroyo hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, 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.
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

Korean hemorrhagic fever
type: Class
subclass of: DOID_11266
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

Axiom
annotated source: Korean hemorrhagic fever
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

nephropathia epidemica
type: Class
subclass of: DOID_11266
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_1980486
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 Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. 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
annotated source: nephropathia epidemica
annotated property: definition
annotated target: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. 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.
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

lujo hemorrhagic fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
definition: A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
has_obo_namespace: disease_ontology
id: DOID:0050202
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
annotated source: lujo hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/19478873

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
annotated source: obsolete Cytomegalovirus hepatitis
annotated property: definition
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.
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

Epstein-Barr virus hepatitis
type: Class
subclass of: DOID 1884
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_10376
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 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

Axiom
annotated source: Epstein-Barr virus hepatitis
annotated property: definition
annotated target: A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
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

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
annotated source: obsolete Herpes simplex virus hepatitis
annotated property: definition
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.
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

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
annotated source: obsolete Rubella virus hepatitis
annotated property: definition
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.
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

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
annotated source: obsolete yellow fever hepatitis
annotated property: definition
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.
database_cross_reference: url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false

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
annotated source: obsolete Measles virus hepatitis
annotated property: definition
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.
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

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
annotated source: obsolete Varicella-zoster virus hepatitis
annotated property: definition
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.
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

swine influenza
type: Class
subclass of: DOID 8469
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_11320
    union of: NCBITaxon_11552
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, or has_material_basis_in Influenza A virus 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

Axiom
annotated source: swine influenza
annotated property: definition
annotated target: An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus 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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://www.cdc.gov/flu/swineflu/key_facts.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9140195

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

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
annotated source: obsolete Vibrio gastroenteritis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

Lambert-Eaton myasthenic syndrome
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: autoimmune disease of peripheral nervous system
subclass of: DOID 439
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0010701
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_2022_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

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

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

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
annotated source: obsolete Bacillus cereus gastroenteritis
annotated property: definition
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.
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

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
annotated source: obsolete Sapovirus gastroenteritis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

polycystic echinococcosis
type: Class
subclass of: DOID 1496
subclass of: DOID 409
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

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

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
annotated source: obsolete Hepeviridae infectious disease
annotated property: definition
annotated target: A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
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

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
annotated source: obsolete Coxiella burnetii pneumonia
annotated property: definition
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.
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

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

selective IgM deficiency disease
type: Class
subclass of: DOID_11702
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

Axiom
annotated source: selective IgM deficiency disease
annotated property: definition
annotated target: A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
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

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
annotated source: obsolete Helicobacter heilmannii infectious disease
annotated property: definition
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.
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

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
annotated source: obsolete Histoplasma capsulatum gastritis
annotated property: definition
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.
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

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

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

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

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
annotated source: obsolete Escherichia coli dysentery
annotated property: definition
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.
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

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
annotated source: obsolete intestinal capillariasis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Intestinal_capillariasis
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm

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
annotated source: obsolete hepatic capillariasis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Capillaria_hepatica
database_cross_reference: url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm

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

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
annotated source: obsolete Balamuthia mandrillaris infectious disease
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm

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

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

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
annotated source: obsolete Heterolobosea infectious disease
annotated property: definition
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.
database_cross_reference: url:http://tolweb.org/Heterolobosea/96360

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

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

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
annotated source: obsolete Fornicata infectious disease
annotated property: definition
annotated target: A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell.
database_cross_reference: url:http://tolweb.org/Fornicata/121182

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

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
annotated source: obsolete Tritrichomonadida infectious disease
annotated property: definition
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.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/20093080

primary amebic meningoencephalitis
type: Class
equivalent class: Class
  intersection of: DOID 2789
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017
subclass of: DOID 2789
subclass of: DOID 331
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

Axiom
annotated source: primary amebic meningoencephalitis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

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

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

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

granulomatous amebic encephalitis
type: Class
subclass of: primary amebic meningoencephalitis
subclass of: DOID 936
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

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

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
annotated source: obsolete parasitic stramenopiles infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Stramenopiles

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
annotated source: obsolete Brugia timori filariasis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Brugia_timori

philophthalmiasis
type: Class
subclass of: DOID 5614
subclass of: DOID 883
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

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

coenurosis
type: Class
subclass of: DOID 331
subclass of: DOID 37
subclass of: DOID 883
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
annotated source: coenurosis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Coenurosis
database_cross_reference: url:https://www.cdc.gov/dpdx/coenurosis/index.html

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
annotated source: obsolete Dipylidium caninum infectious disease
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dipylidium_caninum
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm

mesocestoidiasis
type: Class
subclass of: DOID 883
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
annotated source: mesocestoidiasis
annotated property: definition
annotated target: A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm

acanthocephaliasis
type: Class
subclass of: DOID 883
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
annotated source: acanthocephaliasis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://www.cdc.gov/dpdx/acanthocephaliasis/index.html

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
annotated source: obsolete Uncinaria stenocephala infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Uncinaria_stenocephala

angiostrongyliasis
type: Class
subclass of: DOID 331
subclass of: DOID 5295
subclass of: DOID 5614
subclass of: DOID 883
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

Axiom
annotated source: angiostrongyliasis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Angiostrongyliasis

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
annotated source: obsolete Angiostrongylus costaricensis infectious disease
annotated property: definition
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.
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/sites/entrez/5527668

baylisascariasis
type: Class
subclass of: DOID 319
subclass of: DOID 5295
subclass of: DOID 5614
subclass of: DOID 883
subclass of: DOID 936
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

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

dioctophymiasis
type: Class
subclass of: DOID 37
subclass of: DOID 557
subclass of: DOID 883
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
annotated source: dioctophymiasis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm

thelaziasis
type: Class
subclass of: DOID 883
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
annotated source: thelaziasis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm

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

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

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

obsolete tick paralysis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050265
owl:deprecated: true

tungiasis
type: Class
subclass of: DOID 4110
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

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

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

ophthalmomyiasis
type: Class
subclass of: DOID_11080
subclass of: DOID 5614
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

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

Trichomonas vaginalis trichomoniasis
type: Class
subclass of: DOID 121
subclass of: DOID 1947
subclass of: DOID 2059
subclass of: DOID 2253
subclass of: DOID 732
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: DOID_13034
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000504
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

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

Trichomonas tenax trichomoniasis
type: Class
subclass of: DOID 1947
subclass of: DOID 403
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

Axiom
annotated source: Trichomonas tenax trichomoniasis
annotated property: definition
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.
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

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
annotated source: obsolete cutaneous ascomycota mycosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota

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
annotated source: obsolete cutaneous basidiomycota mycosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota

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
annotated source: obsolete Neoscytalidium dimidiatum infectious disease
annotated property: definition
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.
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

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

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
annotated source: obsolete onychomycosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Onychomycosis
database_cross_reference: url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis

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
annotated source: obsolete subcutaneous ascomycota mycosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota
database_cross_reference: url:http://en.wikipedia.org/wiki/Mycosis

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
annotated source: obsolete subcutaneous fungi incertae sedis mycosis
annotated property: definition
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.
dc:type: ECO_0007636

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
annotated source: basidiobolomycosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/

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
annotated source: conidiobolomycosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/

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
annotated source: obsolete superficial ascomycota mycosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ascomycota

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
annotated source: obsolete superficial basidiomycota mycosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Basidiomycota

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

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
annotated source: obsolete Stachybotrys infectious disease
annotated property: definition
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.
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

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

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

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
annotated source: obsolete opportunistic fungi incertae sedis mycosis
annotated property: definition
annotated target: An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members.
dc:type: ECO_0007636

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

penicilliosis
type: Class
subclass of: DOID 2473
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_37727
subclass of: Restriction
  on property: RO_0002452
  some values from: DOID 2355
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_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

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

fusariosis
type: Class
subclass of: DOID 2473
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
annotated source: fusariosis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14748803

trichosporonosis
type: Class
subclass of: DOID 2473
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
annotated source: trichosporonosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Trichosporonosis

parasitic Ichthyosporea infectious disease
type: Class
subclass of: DOID 1398
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

Axiom
annotated source: parasitic Ichthyosporea infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mesomycetozoea

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
annotated source: primary systemic mycosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/

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
annotated source: obsolete Scopulariopsis brevicaulis infectious disease
annotated property: definition
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.
database_cross_reference: url:http://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm

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
annotated source: obsolete Scytalidium hyalinum infectious disease
annotated property: definition
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.
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

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
annotated source: obsolete cutaneous sporotrichosis
annotated property: definition
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.
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

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

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

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

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
annotated source: obsolete Varicellovirus infectious disease
annotated property: definition
annotated target: A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus.
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

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
annotated source: obsolete Hepacivirus infectious disease
annotated property: definition
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.
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

aniseikonia
type: Class
subclass of: DOID 9835
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

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

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

obsolete familial abdominal aortic aneurysm
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050306
comment: OMIM mapping confirmed by DO. [SN].
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
annotated source: obsolete Bornaviridae infectious disease
annotated property: definition
annotated target: A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Bornaviridae

Alkhurma hemorrhagic fever
type: Class
subclass of: DOID_11320
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, 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_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
annotated source: Alkhurma hemorrhagic fever
annotated property: definition
annotated target: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, 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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Alkhurma_virus

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

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
annotated source: obsolete physical disorder OBSOLETED TERM
annotated property: definition
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).
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Physical_disorder

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
annotated source: obsolete genetic disorder
annotated property: definition
annotated target: A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
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

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

congenital hypothyroidism
type: Class
subclass of: DOID_0080015
subclass of: DOID 1459
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: NCI:C26734
database_cross_reference: NCI:C98921
database_cross_reference: OMIM:PS275200
database_cross_reference: SNOMEDCT_US_2022_09_01:217710005
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

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

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
annotated source: obsolete mental disorder
annotated property: definition
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.
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

LADD syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome 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: OMIM:149730
has_exact_synonym: LEVY-HOLLISTER SYNDROME
has_exact_synonym: lacrimoauriculodentodigital syndrome
has_obo_namespace: disease_ontology
id: DOID:0050331
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: LADD syndrome
annotated property: definition
annotated target: A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
dc:type: ECO_0007636
database_cross_reference: url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome

enlarged vestibular aqueduct
type: Class
equivalent class: Class
  intersection of: DOID 3426
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002279
subclass of: DOID 3426
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
comment: OMIM mapping confirmed by DO. [SN].

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

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: DOID 5679
definition: A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes.
database_cross_reference: GARD:12299
database_cross_reference: MESH:C564243
database_cross_reference: OMIM:608415
database_cross_reference: ORDO:75374
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: bradyopsia
annotated property: definition
annotated target: A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/bradyopsia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17826834

hypophosphatemia
type: Class
subclass of: DOID 2485
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: DOID 8398
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

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

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

primary bacterial infectious disease
type: Class
subclass of: DOID 104
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
annotated source: primary bacterial infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Infectious_disease

commensal bacterial infectious disease
type: Class
subclass of: DOID 104
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
annotated source: commensal bacterial infectious disease
annotated property: definition
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.
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

opportunistic bacterial infectious disease
type: Class
subclass of: DOID 104
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
annotated source: opportunistic bacterial infectious disease
annotated property: definition
annotated target: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545

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
annotated source: obsolete commensal Actinomycetales infectious disease
annotated property: definition
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.
database_cross_reference: url:http://www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf

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: DOID_11976
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
annotated source: foodborne botulism
annotated property: definition
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.
database_cross_reference: url:https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/

wound botulism
type: Class
subclass of: DOID_11976
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
annotated source: wound botulism
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs270/en/

infant botulism
type: Class
subclass of: DOID_11976
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
annotated source: infant botulism
annotated property: definition
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.
database_cross_reference: url:https://www.aafp.org/afp/2002/0401/p1388.html

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: DOID 2123
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

Axiom
annotated source: glandular tularemia
annotated property: definition
annotated target: A tularemia that results_in swelling of regional lymph glands.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/tularemia/signssymptoms/

typhoidal tularemia
type: Class
subclass of: DOID 2123
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
annotated source: typhoidal tularemia
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29635071

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
subclass of: DOID 4455
definition: A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.
database_cross_reference: OMIM:144700
has_obo_namespace: disease_ontology
id: DOID:0050387
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: nonpapillary renal cell carcinoma
annotated property: definition
annotated target: A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2921777
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8415591

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: DOID_11102
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

Axiom
annotated source: Carrion's disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carrion%27s_disease

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
subclass of: DOID 626
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: OMIM:610984
has_exact_synonym: C3 INACTIVATOR DEFICIENCY
has_exact_synonym: COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
has_obo_namespace: disease_ontology
id: DOID:0050419
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: complement factor I deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/610984

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
subclass of: autosomal genetic disease
subclass of: DOID 5295
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000934
definition: An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
database_cross_reference: GARD:6408
database_cross_reference: MESH:D011125
database_cross_reference: NCI:C3339
database_cross_reference: OMIM:PS175100
database_cross_reference: ORDO:733
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial adenomatous polyposis
annotated property: definition
annotated target: An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis
database_cross_reference: url:http://www.omim.org/entry/175100?search=adenomatous%20polyposis

restless legs syndrome
type: Class
subclass of: DOID 331
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: NCI:C84501
database_cross_reference: OMIM:PS102300
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: restless legs syndrome
annotated property: definition
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.
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

Stevens-Johnson syndrome
type: Class
subclass of: DOID 37
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_2022_09_01:73442001
database_cross_reference: UMLS_CUI:C0038325
has_obo_namespace: disease_ontology
id: DOID:0050426
in_subset: NCIthesaurus

Axiom
annotated source: Stevens-Johnson syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome

xeroderma pigmentosum
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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_2022_09_01:44600005
database_cross_reference: UMLS_CUI:C0043346
has_obo_namespace: disease_ontology
id: DOID:0050427
in_subset: DO_FlyBase_slim
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: xeroderma pigmentosum
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract

nonepidermolytic palmoplantar keratoderma
type: Class
subclass of: DOID 3390
definition: A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
database_cross_reference: MESH:D015776
database_cross_reference: NCI:C3147
database_cross_reference: OMIM:600962
database_cross_reference: ORDO:2337
database_cross_reference: SNOMEDCT_US_2022_09_01:81206005
database_cross_reference: UMLS_CUI:C0022584
database_cross_reference: UMLS_CUI:C3489771
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
in_subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: nonepidermolytic palmoplantar keratoderma
annotated property: definition
annotated target: A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma

Hailey-Hailey disease
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 9182
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
database_cross_reference: GARD:6559
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: MESH:D016506
database_cross_reference: NCI:C82865
database_cross_reference: OMIM:169600
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Hailey-Hailey disease
annotated property: definition
annotated target: A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/hailey-hailey-disease/

multiple endocrine neoplasia type 2A
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3125
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: NCI:C3226
database_cross_reference: OMIM:171400
database_cross_reference: ORDO:247698
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: multiple endocrine neoplasia type 2A
annotated property: definition
annotated target: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
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

arrhythmogenic right ventricular cardiomyopathy
type: Class
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.
database_cross_reference: MESH:D019571
database_cross_reference: NCI:C84571
database_cross_reference: OMIM:PS107970
database_cross_reference: ORDO:217656
database_cross_reference: ORDO:247
database_cross_reference: SNOMEDCT_US_2022_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_obo_namespace: disease_ontology
id: DOID:0050431
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: arrhythmogenic right ventricular cardiomyopathy
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

Asperger syndrome
type: Class
subclass of: autism spectrum disorder
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: NCI:C97159
database_cross_reference: OMIM:608631
database_cross_reference: OMIM:608638
database_cross_reference: OMIM:608781
database_cross_reference: OMIM:609954
database_cross_reference: OMIM:PS608638
database_cross_reference: ORDO:1162
database_cross_reference: SNOMEDCT_US_2022_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
comment: Multiple OMIM IDs are susceptibility terms [LS]

Axiom
annotated source: Asperger syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Asperger_syndrome
database_cross_reference: url:http://www.neurodevnet.ca

fatal familial insomnia
type: Class
subclass of: DOID 649
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: NCI:C84711
database_cross_reference: OMIM:600072
database_cross_reference: SNOMEDCT_US_2022_09_01:83157008
database_cross_reference: UMLS_CUI:C0206042
has_obo_namespace: disease_ontology
id: DOID:0050433
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: fatal familial insomnia
annotated property: definition
annotated target: A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Fatal_familial_insomnia

Andersen-Tawil syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2843
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: NCI:C84559
database_cross_reference: OMIM:170390
database_cross_reference: ORDO:37553
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Andersen-Tawil syndrome
annotated property: definition
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.
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

mulibrey nanism
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: NCI:C84906
database_cross_reference: OMIM:253250
database_cross_reference: ORDO:2576
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mulibrey nanism
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/mulibrey-nanism/

Danon disease
type: Class
subclass of: DOID_0080009
subclass of: DOID 3211
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: MESH:D052120
database_cross_reference: NCI:C84735
database_cross_reference: OMIM:300257
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Danon disease
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/danon-disease/

Frasier syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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: NCI:C122805
database_cross_reference: OMIM:136680
database_cross_reference: SNOMEDCT_US_2022_09_01:445431000
database_cross_reference: UMLS_CUI:C0950122
has_obo_namespace: disease_ontology
id: DOID:0050438
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Frasier syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/frasier-syndrome

Usher syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: MESH:D052245
database_cross_reference: NCI:C85217
database_cross_reference: OMIM:PS276900
database_cross_reference: ORDO:886
database_cross_reference: SNOMEDCT_US_2022_09_01:57838006
database_cross_reference: UMLS_CUI:C0271097
has_obo_namespace: disease_ontology
id: DOID:0050439
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Usher syndrome
annotated property: definition
annotated target: A syndrome characterized by a combination of hearing loss and visual impairment.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Usher_syndrome

familial partial lipodystrophy
type: Class
subclass of: DOID_0080299
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: NCI:C165527
database_cross_reference: NCI:C84708
database_cross_reference: OMIM:PS151660
database_cross_reference: ORDO:98306
database_cross_reference: SNOMEDCT_US_2022_09_01:1197745002
database_cross_reference: SNOMEDCT_US_2022_09_01:49292002
database_cross_reference: SNOMEDCT_US_2022_09_01:715439000
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial partial lipodystrophy
annotated property: definition
annotated target: A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
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

mucosulfatidosis
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 1927
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: NCI:C84908
database_cross_reference: OMIM:272200
database_cross_reference: SNOMEDCT_US_2022_09_01:254076009
database_cross_reference: SNOMEDCT_US_2022_09_01:54898003
database_cross_reference: UMLS_CUI:C0268263
database_cross_reference: UMLS_CUI:C1720864
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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mucosulfatidosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency

infantile Refsum disease
type: Class
subclass of: DOID 906
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_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: infantile Refsum disease
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page

X-linked dominant hypophosphatemic rickets
type: Class
subclass of: DOID_0080009
subclass of: DOID_10609
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: A rickets 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: MESH:D053098
database_cross_reference: NCI:C85234
database_cross_reference: OMIM:307800
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 hypophosphatemia
has_exact_synonym: hypophosphatemic rickets X-linked dominant
has_obo_namespace: disease_ontology
id: DOID:0050445
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: X-linked dominant hypophosphatemic rickets
annotated property: definition
annotated target: A rickets 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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia

white sponge nevus
type: Class
subclass of: DOID 37
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: NCI:C84760
database_cross_reference: OMIM:PS193900
database_cross_reference: ORDO:171723
database_cross_reference: SNOMEDCT_US_2022_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
comment: 2023 nomenclature update to white sponge nevus.

Axiom
annotated source: white sponge nevus
annotated property: definition
annotated target: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
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/

pachyonychia congenita
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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: NCI:C84986
database_cross_reference: OMIM:PS167200
database_cross_reference: ORDO:2309
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pachyonychia congenita
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/pachyonychia-congenita

Gitelman syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 447
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: NCI:C84730
database_cross_reference: OMIM:263800
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gitelman syndrome
annotated property: definition
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).
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/gitelman-syndrome

Brugada syndrome
type: Class
subclass of: monogenic disease
subclass of: DOID_10273
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: NCI:C142891
database_cross_reference: OMIM:PS601144
database_cross_reference: ORDO:130
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Brugada syndrome
annotated property: definition
annotated target: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Brugada_syndrome

mevalonic aciduria
type: Class
subclass of: DOID 906
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: NCI:C84890
database_cross_reference: OMIM:610377
database_cross_reference: ORDO:29
database_cross_reference: SNOMEDCT_US_2022_09_01:124327008
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mevalonic aciduria
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria

lissencephaly
type: Class
subclass of: DOID 2490
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: NCI:C103921
database_cross_reference: OMIM:PS607432
database_cross_reference: ORDO:102009
database_cross_reference: SNOMEDCT_US_2022_09_01:204036008
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: lissencephaly
annotated property: definition
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.
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

periventricular nodular heterotopia
type: Class
subclass of: DOID 2490
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: OMIM:300049
database_cross_reference: OMIM:608097
database_cross_reference: OMIM:608098
database_cross_reference: OMIM:612881
database_cross_reference: OMIM:615544
database_cross_reference: ORDO:98892
database_cross_reference: SNOMEDCT_US_2022_09_01:448227009
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: periventricular nodular heterotopia
annotated property: definition
annotated target: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/periventricular-heterotopia

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_2022_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: NCIthesaurus

Axiom
annotated source: Buruli ulcer disease
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Buruli_ulcer
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/fs199/en/

Sertoli cell-only syndrome
type: Class
subclass of: DOID_12336
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_2022_09_01:73465006
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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Sertoli cell-only syndrome
annotated property: definition
annotated target: A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome

juvenile myelomonocytic leukemia
type: Class
subclass of: DOID 4972
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: NCI:C9233
database_cross_reference: OMIM:607785
database_cross_reference: SNOMEDCT_US_2022_09_01:445227008
database_cross_reference: UMLS_CUI:C0349639
has_obo_namespace: disease_ontology
id: DOID:0050458
in_subset: DO_cancer_slim
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: juvenile myelomonocytic leukemia
annotated property: definition
annotated target: A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/

hyperphosphatemia
type: Class
subclass of: DOID 2485
definition: A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral 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_2022_09_01:20165001
database_cross_reference: UMLS_CUI:C0085681
has_obo_namespace: disease_ontology
id: DOID:0050459
in_subset: NCIthesaurus

Axiom
annotated source: hyperphosphatemia
annotated property: definition
annotated target: A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis

Wolf-Hirschhorn syndrome
type: Class
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: NCI:C35528
database_cross_reference: OMIM:194190
database_cross_reference: ORDO:280
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Wolf-Hirschhorn syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome

aspartylglucosaminuria
type: Class
subclass of: DOID 3211
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: NCI:C61273
database_cross_reference: OMIM:208400
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: aspartylglucosaminuria
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria

Antley-Bixler syndrome with disordered steroidogenesis
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0081289
subclass of: DOID 225
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: OMIM:201750
database_cross_reference: SNOMEDCT_US_2021_09_01:62964007
has_exact_synonym: trapezoidocephaly-synostosis syndrome
has_obo_namespace: disease_ontology
id: DOID:0050462
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Antley-Bixler syndrome with disordered steroidogenesis
annotated property: definition
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.
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/

campomelic dysplasia
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2256
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
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: NCI:C120205
database_cross_reference: NCI:C84609
database_cross_reference: OMIM:114290
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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: campomelic dysplasia
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

Farber lipogranulomatosis
type: Class
subclass of: DOID 9455
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: NCI:C84710
database_cross_reference: OMIM:228000
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Farber lipogranulomatosis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Farber_disease

Muir-Torre syndrome
type: Class
subclass of: DOID 3883
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: NCI:C84905
database_cross_reference: OMIM:158320
database_cross_reference: SNOMEDCT_US_2022_09_01:403824007
database_cross_reference: UMLS_CUI:C1321489
has_obo_namespace: disease_ontology
id: DOID:0050465
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Muir-Torre syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome

Loeys-Dietz syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Loeys-Dietz syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome

erythrokeratodermia variabilis
type: Class
subclass of: monogenic disease
subclass of: DOID 37
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: NCI:C84696
database_cross_reference: OMIM:PS133200
database_cross_reference: ORDO:317
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: erythrokeratodermia variabilis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis

yellow nail syndrome
type: Class
subclass of: DOID 225
subclass of: DOID 37
subclass of: DOID 4123
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: NCI:C85238
database_cross_reference: OMIM:153300
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: yellow nail syndrome
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28241848

Costello syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_0080690
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: NCI:C84652
database_cross_reference: OMIM:218040
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Costello syndrome
annotated property: definition
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.
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

Donohue syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: NCI:C131000
database_cross_reference: NCI:C84676
database_cross_reference: OMIM:246200
database_cross_reference: ORDO:508
database_cross_reference: SNOMEDCT_US_2022_09_01:111307005
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Donohue syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Donohue_syndrome

Carney complex
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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: NCI:C4705
database_cross_reference: OMIM:160980
database_cross_reference: OMIM:605244
database_cross_reference: OMIM:608837
database_cross_reference: ORDO:1359
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Carney complex
annotated property: definition
annotated target: A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carney_complex
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/carney-complex

monilethrix
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 421
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: OMIM:158000
database_cross_reference: SNOMEDCT_US_2022_09_01:69488000
database_cross_reference: UMLS_CUI:C0546966
has_obo_namespace: disease_ontology
id: DOID:0050472
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: monilethrix
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/monilethrix

Alstrom syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: NCI:C84549
database_cross_reference: OMIM:203800
database_cross_reference: SNOMEDCT_US_2022_09_01:63702009
database_cross_reference: UMLS_CUI:C0268425
has_obo_namespace: disease_ontology
id: DOID:0050473
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Alstrom syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Alstrom_syndrome

Netherton syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 37
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: OMIM:256500
database_cross_reference: ORDO:634
database_cross_reference: SNOMEDCT_US_2022_09_01:312514006
database_cross_reference: UMLS_CUI:C0265962
has_obo_namespace: disease_ontology
id: DOID:0050474
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Netherton syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/netherton-syndrome

Weill-Marchesani syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000934
definition: A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
database_cross_reference: GARD:4936
database_cross_reference: MESH:D056846
database_cross_reference: NCI:C85226
database_cross_reference: OMIM:277600
database_cross_reference: OMIM:608328
database_cross_reference: OMIM:613195
database_cross_reference: OMIM:614819
database_cross_reference: OMIM:PS277600
database_cross_reference: ORDO:3449
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Weill-Marchesani syndrome
annotated property: definition
annotated target: A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

Barth syndrome
type: Class
subclass of: 3-methylglutaconic aciduria
subclass of: DOID_0080012
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: NCI:C84585
database_cross_reference: OMIM:302060
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Barth syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Barth_syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1
database_cross_reference: url:http://www.ninds.nih.gov/disorders/barth/barth.htm
database_cross_reference: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract

Liddle syndrome
type: Class
subclass of: DOID 447
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: NCI:C84827
database_cross_reference: OMIM:177200
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Liddle syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Liddle%27s_syndrome

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: DOID_11256
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

Axiom
annotated source: epidemic typhus
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Epidemic_typhus

endemic typhus
type: Class
subclass of: DOID_11256
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
annotated source: endemic typhus
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Murine_typhus

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: DOID_11104
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
annotated source: aneruptive fever
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://jcm.asm.org/cgi/reprint/42/2/816
database_cross_reference: url:http://www.cdc.gov/otherspottedfever/index.html

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: gram-negative_bacterial_infectious_disease
in_subset: zoonotic_infectious_disease

Axiom
annotated source: sennetsu fever
annotated property: definition
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.
database_cross_reference: url:https://rarediseases.org/rare-diseases/sennetsu-fever/

exanthem
type: Class
subclass of: DOID 37
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: ICD10CM:R21
database_cross_reference: ICD9CM:782.1
database_cross_reference: MESH:D005076
database_cross_reference: NCI:C111884
database_cross_reference: SNOMEDCT_US_2022_09_01:112625008
database_cross_reference: UMLS_CUI:C0015230
has_obo_namespace: disease_ontology
id: DOID:0050486
in_subset: NCIthesaurus

Axiom
annotated source: exanthem
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Exanthem

bacterial exanthem
type: Class
subclass of: exanthem
subclass of: DOID 104
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
annotated source: bacterial exanthem
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Scarlet_fever#Rash

early congenital syphilis
type: Class
subclass of: DOID 9856
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: DOID 1059
subclass of: Restriction
  on property: RO_0004029
  some values from: DOID_11406
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

Axiom
annotated source: early congenital syphilis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html

multinodular goiter
type: Class
subclass of: DOID_12176
definition: A goiter characterized by a multinodular enlargement of the thyroid gland.
database_cross_reference: OMIM:138800
database_cross_reference: OMIM:300273
database_cross_reference: OMIM:606082
database_cross_reference: OMIM:PS138800
database_cross_reference: ORDO:276399
has_obo_namespace: disease_ontology
id: DOID:0050489
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: multinodular goiter
annotated property: definition
annotated target: A goiter characterized by a multinodular enlargement of the thyroid gland.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Multinodular_goitre

parenchymatous neurosyphilis
type: Class
subclass of: DOID 9988
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

Axiom
annotated source: parenchymatous neurosyphilis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh

meningovascular neurosyphilis
type: Class
subclass of: DOID 9988
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: DOID 767
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

Axiom
annotated source: meningovascular neurosyphilis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh

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

exanthema subitum
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: Class
    union of: NCBITaxon_10368
    union of: NCBITaxon_10372
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 herpesvirus 6 or has_material_basis_in Human herpesvirus 7 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: SNOMEDCT_US_2022_09_01:54385001
database_cross_reference: UMLS_CUI:C0015231
has_exact_synonym: Roseola Infantum
has_exact_synonym: Sixth Disease
has_obo_namespace: disease_ontology
id: DOID:0050495
in_subset: DO_infectious_disease_slim

Axiom
annotated source: exanthema subitum
annotated property: definition
annotated target: A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Exanthema_subitum

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
annotated source: obsolete Anelloviridae infectious disease
annotated property: definition
annotated target: A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Anelloviridae

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
annotated source: obsolete dsDNA virus infectious disease
annotated property: definition
annotated target: A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification

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
annotated source: obsolete ssDNA virus infectious disease
annotated property: definition
annotated target: A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification

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
annotated source: obsolete dsDNA-RT virus infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification

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
annotated source: obsolete dsRNA virus infectious disease
annotated property: definition
annotated target: A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification

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
annotated source: obsolete (+)ssRNA virus infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification

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
annotated source: obsolete (-)ssRNA virus infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification

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
annotated source: obsolete ssRNA-RT virus infectious disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Viral_classification

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
annotated source: obsolete human papilloma virus related anal squamous cell carcinoma
annotated property: definition
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.
database_cross_reference: url:http://www.infectagentscancer.com/content/5/1/17

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
annotated source: obsolete human papilloma virus related vaginal squamous cell carcinoma
annotated property: definition
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.
database_cross_reference: url:http://emedicine.medscape.com/article/219110-overview
database_cross_reference: url:http://emedicine.medscape.com/article/269188-overview

obsolete AIDS-related cryptosporidiosis
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050507
owl:deprecated: true

variola major
type: Class
subclass of: DOID 8736
definition: A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
database_cross_reference: ICD9CM:050.0
database_cross_reference: SNOMEDCT_US_2022_09_01:266193008
database_cross_reference: UMLS_CUI:C1812609
has_obo_namespace: disease_ontology
id: DOID:0050508
in_subset: DO_infectious_disease_slim

Axiom
annotated source: variola major
annotated property: definition
annotated target: A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
dc:type: ECO_0007637
database_cross_reference: url:http://www.who.int/csr/disease/smallpox/en/

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
annotated source: obsolete Human torovirus gastroenteritis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:http://www.jstor.org/stable/30117350

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
annotated source: obsolete Saffold virus gastroenteritis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

spinal polio
type: Class
subclass of: paralytic poliomyelitis
subclass of: DOID 319
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

Axiom
annotated source: spinal polio
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Poliomyelitis

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
annotated source: bulbospinal polio
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms

paralytic poliomyelitis
type: Class
subclass of: DOID 331
subclass of: DOID 4953
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
annotated source: paralytic poliomyelitis
annotated property: definition
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.
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

O'nyong'nyong fever
type: Class
subclass of: DOID 934
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, 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.
has_obo_namespace: disease_ontology
id: DOID:0050516
in_subset: DO_infectious_disease_slim

Axiom
annotated source: O'nyong'nyong fever
annotated property: definition
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, 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.
dc:type: ECO_0007646
database_cross_reference: url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false

Barmah Forest virus disease
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11020
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, 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
annotated source: Barmah Forest virus disease
annotated property: definition
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
database_cross_reference: url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease

Ross River fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11029
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, 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
annotated source: Ross River fever
annotated property: definition
annotated target: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ross_River_fever

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
annotated source: obsolete Lymphocytic choriomeningitis virus meningitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm

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
annotated source: obsolete Lymphocytic choriomeningitis virus meningoencephalitis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm

Oropouche fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_118655
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, 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.
has_obo_namespace: disease_ontology
id: DOID:0050521
in_subset: DO_infectious_disease_slim
in_subset: zoonotic_infectious_disease

Axiom
annotated source: Oropouche fever
annotated property: definition
annotated target: A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, 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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Oropouche_fever
database_cross_reference: url:http://www.cdc.gov/EID/content/13/6/912.htm

Balkan hemorrhagic fever
type: Class
subclass of: DOID_11266
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 , 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
annotated source: Balkan hemorrhagic fever
annotated property: definition
annotated target: A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus , 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.
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

adult T-cell leukemia/lymphoma
type: Class
subclass of: DOID 5603
subclass of: DOID 934
subclass of: Restriction
  on property: has material basis in
  some values from: NCBITaxon_11908
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-lymphotropic virus 1 (HTLV-1), 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_2022_09_01:77430005
database_cross_reference: UMLS_CUI:C0023493
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: NCIthesaurus

Axiom
annotated source: adult T-cell leukemia/lymphoma
annotated property: definition
annotated target: A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), 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.
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184

maturity-onset diabetes of the young
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 9351
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: ICD10CM:E11.8
database_cross_reference: KEGG:04950
database_cross_reference: OMIM:606391
database_cross_reference: ORDO:552
has_exact_synonym: MODY
has_exact_synonym: Mason-type diabetes
has_obo_namespace: disease_ontology
id: DOID:0050524
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: maturity-onset diabetes of the young
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young

obsolete acroosteolysis
type: Class
has_exact_synonym: acro-osteolysis
has_obo_namespace: disease_ontology
has_related_synonym: Acroosteolysis syndrome
id: DOID:0050525
comment: OMIM mapping confirmed by DO. [SN].
owl:deprecated: true

Gamstorp-Wohlfart syndrome
type: Class
subclass of: DOID 225
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gamstorp-Wohlfart syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia

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: DOID_0111867
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome 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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: nonphotosensitive trichothiodystrophy 4
annotated property: definition
annotated target: A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy

adult spinal muscular atrophy
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_12377
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: adult spinal muscular atrophy
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy

intermediate spinal muscular atrophy
type: Class
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: NCI:C156310
database_cross_reference: OMIM:253550
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: intermediate spinal muscular atrophy
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2

obsolete lentiginosis profusa
type: Class
has_exact_synonym: LENTIGINOSIS, DIFFUSE
has_exact_synonym: LENTIGINOSIS, GENERALIZED
has_exact_synonym: LENTIGINOSIS, INHERITED PATTERNED
has_obo_namespace: disease_ontology
id: DOID:0050531
comment: OMIM mapping confirmed by DO. [SN].
owl:deprecated: true

obsolete epidermal nevus
type: Class
has_exact_synonym: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
has_exact_synonym: PIGMENTED MOLES
has_obo_namespace: disease_ontology
id: DOID:0050532
comment: OMIM mapping confirmed by DO. [SN].
owl:deprecated: true

obsolete soldiers heart
type: Class
has_exact_synonym: IRRITABLE HEART
has_exact_synonym: MITRAL VALVE PROLAPSE SYNDROME
has_exact_synonym: NEUROCIRCULATORY ASTHENIA
has_exact_synonym: ORTHOSTATIC INTOLERANCE
has_obo_namespace: disease_ontology
id: DOID:0050533
comment: OMIM mapping confirmed by DO. [SN].
owl:deprecated: true

congenital stationary night blindness
type: Class
subclass of: DOID_0080015
subclass of: DOID 8498
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: ICD10CM:H53.63
database_cross_reference: ICD9CM:368.61
database_cross_reference: MESH:C537743
database_cross_reference: OMIM:PS310500
database_cross_reference: ORDO:215
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital stationary night blindness
annotated property: definition
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.
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

exudative vitreoretinopathy
type: Class
subclass of: DOID 2462
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: OMIM:PS133780
database_cross_reference: ORDO:891
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: exudative vitreoretinopathy
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

obsolete SC phocomelia syndrome
type: Class
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
comment: GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS]
owl:deprecated: true

Axiom
annotated source: obsolete SC phocomelia syndrome
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/269000

posterior polar cataract
type: Class
subclass of: DOID 83
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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: posterior polar cataract
annotated property: definition
annotated target: A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/

Charcot-Marie-Tooth disease type 1
type: Class
subclass of: DOID_10595
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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Charcot-Marie-Tooth disease type 1
annotated property: definition
annotated target: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm

Charcot-Marie-Tooth disease type 2
type: Class
subclass of: DOID_10595
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: OMIM:118230
database_cross_reference: OMIM:604484
database_cross_reference: ORDO:64746
database_cross_reference: SNOMEDCT_US_2022_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
comment: See OMIM:604484 Okinawa type is CMT type 2.

Axiom
annotated source: Charcot-Marie-Tooth disease type 2
annotated property: definition
annotated target: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
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

Charcot-Marie-Tooth disease type 3
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: DOID_10595
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: OMIM:145900
has_exact_synonym: DEJERINE-SOTTAS NEUROPATHY
has_exact_synonym: DEJERINE-SOTTAS SYNDROME
has_obo_namespace: disease_ontology
id: DOID:0050540
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Charcot-Marie-Tooth disease type 3
annotated property: definition
annotated target: A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease

Charcot-Marie-Tooth disease type 4
type: Class
subclass of: DOID_10595
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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Charcot-Marie-Tooth disease type 4
annotated property: definition
annotated target: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm

Charcot-Marie-Tooth disease type X
type: Class
subclass of: DOID_10595
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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Charcot-Marie-Tooth disease type X
annotated property: definition
annotated target: A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm

Charcot-Marie-Tooth disease intermediate type
type: Class
subclass of: DOID_10595
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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Charcot-Marie-Tooth disease intermediate type
annotated property: definition
annotated target: A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.
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

hypermethioninemia
type: Class
subclass of: DOID 9252
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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

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

visceral heterotaxy
type: Class
subclass of: DOID_0080015
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: OMIM:306955
database_cross_reference: OMIM:605376
database_cross_reference: OMIM:606325
database_cross_reference: OMIM:613751
database_cross_reference: OMIM:614779
database_cross_reference: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: visceral heterotaxy
annotated property: definition
annotated target: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Situs_ambiguus

congenital adrenal insufficiency
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: DOID_0080015
subclass of: DOID 9553
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: OMIM:613743
has_exact_synonym: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
has_exact_synonym: P450scc DEFICIENCY
has_obo_namespace: disease_ontology
id: DOID:0050546
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital adrenal insufficiency
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Adrenal_insufficiency

familial medullary thyroid carcinoma
type: Class
subclass of: DOID 3973
definition: A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
database_cross_reference: MESH:C536911
database_cross_reference: OMIM:155240
has_exact_synonym: THYROID CARCINOMA, FAMILIAL MEDULLARY
has_obo_namespace: disease_ontology
id: DOID:0050547
in_subset: DO_FlyBase_slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial medullary thyroid carcinoma
annotated property: definition
annotated target: A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
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

hereditary sensory neuropathy
type: Class
subclass of: DOID 870
definition: A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
database_cross_reference: MESH:D009477
database_cross_reference: OMIM:PS162400
has_exact_synonym: familial dysautonomia, type II
has_exact_synonym: hereditary sensory and autonomic neuropathy
has_obo_namespace: disease_ontology
id: DOID:0050548
in_subset: DO_FlyBase_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary sensory neuropathy
annotated property: definition
annotated target: A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/616488?search=616488&highlight=616488

Saldino-Noonan syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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_0000292
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.
has_exact_synonym: type I short rib polydactyly syndrome
has_obo_namespace: disease_ontology
id: DOID:0050549

Axiom
annotated source: Saldino-Noonan syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Noonan_syndrome

obsolete Majewski syndrome
type: Class
has_exact_synonym: type II short rib-polydactyly syndrome
has_obo_namespace: disease_ontology
id: DOID:0050550
comment: OMIM mapping confirmed by DO. [SN].
owl:deprecated: true

obsolete Verma-Naumoff syndrome
type: Class
has_exact_synonym: type III short rib-polydactyly syndrome
has_obo_namespace: disease_ontology
id: DOID:0050551
comment: OMIM mapping confirmed by DO. [SN].
owl:deprecated: true

JMP syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.
database_cross_reference: GARD:10988
database_cross_reference: OMIM:256040
database_cross_reference: ORDO:324999
has_exact_synonym: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
has_obo_namespace: disease_ontology
id: DOID:0050553

Axiom
annotated source: JMP syndrome
annotated property: definition
annotated target: A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.
dc:type: ECO_0007645
database_cross_reference: url:http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21129723

X-linked sideroblastic anemia with ataxia
type: Class
subclass of: DOID_0080012
subclass of: DOID 8955
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: OMIM:301310
has_exact_synonym: Anemia sideroblastic and 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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: X-linked sideroblastic anemia with ataxia
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia

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
annotated source: obsolete infantile onset spinocerebellar ataxia
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia

congenital muscular dystrophy
type: Class
subclass of: DOID_0080015
subclass of: DOID 9884
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: OMIM:254100
database_cross_reference: ORDO:97242
database_cross_reference: SNOMEDCT_US_2022_09_01:193221009
database_cross_reference: UMLS_CUI:C2937300
has_obo_namespace: disease_ontology
id: DOID:0050557
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital muscular dystrophy
annotated property: definition
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.
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/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page

Ullrich congenital muscular dystrophy
type: Class
subclass of: congenital muscular dystrophy
subclass of: autosomal dominant disease
subclass of: autosomal recessive 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_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 muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
database_cross_reference: GARD:4769
database_cross_reference: OMIM:254090
has_exact_synonym: ULLRICH DISEASE
has_exact_synonym: Ullrich scleroatonic muscular dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050558
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Ullrich congenital muscular dystrophy
annotated property: definition
annotated target: A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy

Fukuyama congenital muscular dystrophy
type: Class
subclass of: DOID_0111229
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: OMIM:253800
database_cross_reference: ORDO:272
has_obo_namespace: disease_ontology
id: DOID:0050559
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Fukuyama congenital muscular dystrophy
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy

Walker-Warburg syndrome
type: Class
subclass of: congenital muscular dystrophy
subclass of: autosomal recessive disease
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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Walker-Warburg syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome

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: OMIM:606369
database_cross_reference: ORDO:2382
has_exact_synonym: Lennox syndrome
has_obo_namespace: disease_ontology
id: DOID:0050561

Axiom
annotated source: Lennox-Gastaut syndrome
annotated property: definition
annotated target: A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome

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: NCIthesaurus

Axiom
annotated source: West syndrome
annotated property: definition
annotated target: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
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

nonsyndromic deafness
type: Class
subclass of: DOID 2742
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

Axiom
annotated source: nonsyndromic deafness
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
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

autosomal dominant nonsyndromic deafness
type: Class
subclass of: nonsyndromic deafness
subclass of: autosomal dominant disease
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: autosomal dominant nonsyndromic deafness
annotated property: definition
annotated target: A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness

autosomal recessive nonsyndromic deafness
type: Class
subclass of: nonsyndromic deafness
subclass of: autosomal recessive disease
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: OMIM:607197
database_cross_reference: OMIM:PS220290
database_cross_reference: ORDO:90636
has_obo_namespace: disease_ontology
id: DOID:0050565
in_subset: DO_rare_slim
comment: OMIM:607197 is an older phenotype record for this disease.

Axiom
annotated source: autosomal recessive nonsyndromic deafness
annotated property: definition
annotated target: A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness

X-linked nonsyndromic deafness
type: Class
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: X-linked nonsyndromic deafness
annotated property: definition
annotated target: A nonsyndromic deafness characterized by an X-linked inheritance mode.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness

orofacial cleft
type: Class
subclass of: DOID_0080015
subclass of: DOID 225
subclass of: Class
  intersection of: DOID_0080015
  intersection of: Class
    intersection of: Restriction
      on property: RO_0004019
      some values from: SYMP_0000462
    intersection of: Restriction
      on property: RO_0004026
      some values from: orofacial cleft
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: OMIM:PS119530
has_obo_namespace: disease_ontology
id: DOID:0050567
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: orofacial cleft
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate

spondylocostal dysostosis
type: Class
subclass of: spinal disease
subclass of: DOID 1934
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
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: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: spondylocostal dysostosis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Spondylocostal_dysostosis
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis

Seckel syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Seckel syndrome
annotated property: definition
annotated target: A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Seckel_syndrome

congenital disorder of glycosylation type I
type: Class
subclass of: DOID 5212
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: OMIM:PS212065
has_obo_namespace: disease_ontology
id: DOID:0050570
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital disorder of glycosylation type I
annotated property: definition
annotated target: A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

congenital disorder of glycosylation type II
type: Class
subclass of: DOID 5212
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: OMIM:PS212066
has_obo_namespace: disease_ontology
id: DOID:0050571
in_subset: DO_FlyBase_slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital disorder of glycosylation type II
annotated property: definition
annotated target: A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification

cone-rod dystrophy
type: Class
subclass of: monogenic disease
subclass of: DOID 8466
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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cone-rod dystrophy
annotated property: definition
annotated target: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
database_cross_reference: url:http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy

2-hydroxyglutaric aciduria
type: Class
subclass of: DOID 9252
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

Axiom
annotated source: 2-hydroxyglutaric aciduria
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

L-2-hydroxyglutaric aciduria
type: Class
subclass of: 2-hydroxyglutaric aciduria
subclass of: DOID 2786
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: OMIM:236792
database_cross_reference: ORDO:79314
has_exact_synonym: L-2-HYDROXYGLUTARIC ACIDEMIA
has_obo_namespace: disease_ontology
id: DOID:0050574

Axiom
annotated source: L-2-hydroxyglutaric aciduria
annotated property: definition
annotated target: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria

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: OMIM:PS600721
has_obo_namespace: disease_ontology
id: DOID:0050575
in_subset: DO_FlyBase_slim

Axiom
annotated source: D-2-hydroxyglutaric aciduria
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria

Senior-Loken syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM:266900
database_cross_reference: OMIM:606995
database_cross_reference: OMIM:606996
database_cross_reference: OMIM:609254
database_cross_reference: OMIM:610189
database_cross_reference: OMIM:613615
database_cross_reference: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Senior-Loken syndrome
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome

cranioectodermal dysplasia
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM:PS218330
has_exact_synonym: Levin syndrome
has_exact_synonym: Sensenbrenner syndrome
has_obo_namespace: disease_ontology
id: DOID:0050577
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cranioectodermal dysplasia
annotated property: definition
annotated target: A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
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/

occult macular dystrophy
type: Class
subclass of: DOID 4448
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: OMIM:613587
has_obo_namespace: disease_ontology
id: DOID:0050578
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: occult macular dystrophy
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:http://www.iovs.org/content/41/2/513.full.pdf

glycogen storage disease XV
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2747
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: OMIM:613507
has_exact_synonym: glycogen storage disease type XV
has_obo_namespace: disease_ontology
id: DOID:0050579

Axiom
annotated source: glycogen storage disease XV
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613507

hereditary lymphedema
type: Class
subclass of: DOID 4977
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: OMIM:PS153100
database_cross_reference: ORDO:79452
database_cross_reference: SNOMEDCT_US_2022_09_01:205542007
database_cross_reference: UMLS_CUI:C1313885
has_obo_namespace: disease_ontology
id: DOID:0050580
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary lymphedema
annotated property: definition
annotated target: A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Milroy%27s_disease

brachydactyly
type: Class
subclass of: DOID 1934
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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: brachydactyly
annotated property: definition
annotated target: A dysostosis characterized by short fingers and toes.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Brachydactyly

obsolete Chlamydophila pneumoniae infectious disease
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050583
owl:deprecated: true

gummatous syphilis
type: Class
subclass of: DOID 8200
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

Axiom
annotated source: gummatous syphilis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/31437386

congenital generalized lipodystrophy
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080015
subclass of: DOID_0080298
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: OMIM:PS608594
has_obo_namespace: disease_ontology
id: DOID:0050585
in_subset: DO_FlyBase_slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital generalized lipodystrophy
annotated property: definition
annotated target: A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy

trichotillomania
type: Class
subclass of: DOID_10937
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: OMIM:613229
has_obo_namespace: disease_ontology
id: DOID:0050587
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: trichotillomania
annotated property: definition
annotated target: An impulse control disorder that involves the uncontrollable plucking of ones hair.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Trichotillomania

muscular dystrophy-dystroglycanopathy type B1
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112375
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: OMIM:613155
has_exact_synonym: CMD due to dystroglycanopathy
has_obo_namespace: disease_ontology
id: DOID:0050588
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: muscular dystrophy-dystroglycanopathy type B1
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613155

inflammatory bowel disease
type: Class
subclass of: DOID 5295
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: NCI:C3138
database_cross_reference: OMIM:PS266600
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: inflammatory bowel disease
annotated property: definition
annotated target: An intestinal disease characterized by inflammation located in all parts of digestive tract.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

severe congenital neutropenia
type: Class
subclass of: DOID_0080015
subclass of: DOID 1227
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: OMIM:PS202700
database_cross_reference: ORDO:42738
has_obo_namespace: disease_ontology
id: DOID:0050590
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: severe congenital neutropenia
annotated property: definition
annotated target: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
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

tooth agenesis
type: Class
subclass of: DOID 1091
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: NCI:C172328
database_cross_reference: OMIM:106600
database_cross_reference: OMIM:150400
database_cross_reference: OMIM:313500
database_cross_reference: OMIM:602639
database_cross_reference: OMIM:604625
database_cross_reference: OMIM:610926
database_cross_reference: OMIM:PS106600
database_cross_reference: ORDO:2227
database_cross_reference: ORDO:99798
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI.

Axiom
annotated source: tooth agenesis
annotated property: definition
annotated target: A tooth disease characterized by failure to develop one or more missing teeth.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypodontia

asphyxiating thoracic dystrophy
type: Class
subclass of: DOID_0080006
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: asphyxiating thoracic dystrophy
annotated property: definition
annotated target: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy

primary congenital glaucoma
type: Class
subclass of: monogenic disease
subclass of: DOID_0080015
subclass of: DOID 1686
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: OMIM:613085
database_cross_reference: OMIM:613086
has_obo_namespace: disease_ontology
id: DOID:0050593
comment: Xref MGI.

Axiom
annotated source: primary congenital glaucoma
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/early-onset-glaucoma

glycogen storage disease IX
type: Class
subclass of: DOID 2747
definition: A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.
has_obo_namespace: disease_ontology
id: DOID:0050594

Axiom
annotated source: glycogen storage disease IX
annotated property: definition
annotated target: A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17689125

taeniasis
type: Class
subclass of: DOID 883
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_2022_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
annotated source: taeniasis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Taeniasis

intestinal schistosomiasis
type: Class
subclass of: DOID 1395
subclass of: DOID 5295
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: NCI:C35001
database_cross_reference: NCI:C35002
database_cross_reference: NCI:C35364
database_cross_reference: OMIM:181460
database_cross_reference: ORDO:1247
database_cross_reference: SNOMEDCT_US_2022_09_01:187114003
database_cross_reference: SNOMEDCT_US_2022_09_01:52179003
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI.

Axiom
annotated source: intestinal schistosomiasis
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Schistosomiasis

extrapulmonary tuberculosis
type: Class
subclass of: DOID 399
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

Axiom
annotated source: extrapulmonary tuberculosis
annotated property: definition
annotated target: A tuberculosis that occurs at body sites other than the lung.
dc:type: ECO_0007645
database_cross_reference: url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf

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
annotated source: abdominal tuberculosis
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf

ABCD syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ABCD syndrome
annotated property: definition
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).
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

ADULT syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
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 a mutation in TP63.
database_cross_reference: GARD:384
database_cross_reference: OMIM:103285
has_exact_synonym: acro-dermato-ungual-lacrimal-tooth syndrome
has_obo_namespace: disease_ontology
id: DOID:0050601
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ADULT syndrome
annotated property: definition
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 a mutation in TP63.
dc:type: ECO_0007645
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/16114047/

triple-A syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: triple-A syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/triple-a-syndrome

acheiropody
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2256
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: OMIM:200500
has_exact_synonym: Acheiropodia
has_exact_synonym: Horn-Kolb Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050603
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: acheiropody
annotated property: definition
annotated target: An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Acheiropodia

acrocapitofemoral dysplasia
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2256
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
database_cross_reference: GARD:10605
database_cross_reference: MESH:C564334
database_cross_reference: OMIM:607778
has_obo_namespace: disease_ontology
id: DOID:0050604
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: acrocapitofemoral dysplasia
annotated property: definition
annotated target: An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia

acrodermatitis enteropathica
type: Class
subclass of: DOID 896
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: OMIM:201100
has_obo_namespace: disease_ontology
id: DOID:0050605

Axiom
annotated source: acrodermatitis enteropathica
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica

acrokeratosis verruciformis
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 161
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
database_cross_reference: OMIM:101900
has_exact_synonym: Acrokeratosis verruciformis of Hopf
has_exact_synonym: Hopf disease
has_obo_namespace: disease_ontology
id: DOID:0050606
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: acrokeratosis verruciformis
annotated property: definition
annotated target: A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis

Askin's tumor
type: Class
subclass of: DOID 3369
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

Axiom
annotated source: Askin's tumor
annotated property: definition
annotated target: An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Askin%27s_tumor

oral cavity carcinoma in situ
type: Class
equivalent class: Class
  intersection of: DOID 8719
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000167
subclass of: DOID 403
subclass of: DOID 8719
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

Axiom
annotated source: oral cavity carcinoma in situ
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/

pharynx carcinoma in situ
type: Class
equivalent class: Class
  intersection of: DOID 8719
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0006562
subclass of: DOID 8719
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

Axiom
annotated source: pharynx carcinoma in situ
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer

gallbladder carcinoma in situ
type: Class
equivalent class: Class
  intersection of: DOID 8719
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002110
subclass of: gallbladder disease
subclass of: DOID 8719
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

Axiom
annotated source: gallbladder carcinoma in situ
annotated property: definition
annotated target: An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.
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

bile duct carcinoma in situ
type: Class
equivalent class: Class
  intersection of: DOID 8719
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002394
subclass of: DOID 4138
subclass of: DOID 8719
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

Axiom
annotated source: bile duct carcinoma in situ
annotated property: definition
annotated target: An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cholangiocarcinoma

bronchus carcinoma in situ
type: Class
equivalent class: Class
  intersection of: DOID 8719
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002185
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002186
subclass of: DOID 1176
subclass of: DOID 8719
definition: An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.
has_obo_namespace: disease_ontology
id: DOID:0050614

Axiom
annotated source: bronchus carcinoma in situ
annotated property: definition
annotated target: An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10858385

respiratory system cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001004
subclass of: organ system cancer
subclass of: DOID 1579
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

Axiom
annotated source: respiratory system cancer
annotated property: definition
annotated target: An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm

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
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001825
subclass of: respiratory system cancer
subclass of: DOID 1352
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:2442
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: NCI:C8193
database_cross_reference: UMLS_CUI:C0280334
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: Epidermoid carcinoma of the paranasal sinus
has_exact_synonym: Mucoepidermoid carcinoma of Accessory sinus
has_exact_synonym: adenoid cystic carcinoma of Accessory sinus
has_exact_synonym: paranasal sinus adenocarcinoma
has_exact_synonym: paranasal sinus adenoid cystic carcinoma
has_exact_synonym: paranasal sinus mucoepidermoid carcinoma
has_exact_synonym: paranasal sinus squamous cell carcinoma
has_obo_namespace: disease_ontology
has_related_synonym: adenoid cystic carcinoma of paranasal sinus
has_related_synonym: squamous cell carcinoma of paranasal sinus
id: DOID:0050619
in_subset: NCIthesaurus

Axiom
annotated source: paranasal sinus cancer
annotated property: definition
annotated target: A respiratory system cancer that is located_in the paranasal sinuses.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1

infiltrating renal pelvis transitional cell carcinoma
type: Class
subclass of: DOID 5974
definition: A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.
has_obo_namespace: disease_ontology
id: DOID:0050620

Axiom
annotated source: infiltrating renal pelvis transitional cell carcinoma
annotated property: definition
annotated target: A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Transitional_cell_carcinoma

respiratory system benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001004
subclass of: organ system benign neoplasm
subclass of: DOID 1579
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

Axiom
annotated source: respiratory system benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Respiratory_system

reproductive organ benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000990
subclass of: organ system benign neoplasm
subclass of: DOID 15
definition: An organ system benign neoplasm that is located_in reproductive system organs.
has_obo_namespace: disease_ontology
id: DOID:0050622

Axiom
annotated source: reproductive organ benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm that is located_in reproductive system organs.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Reproductive_system

bladder benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001255
subclass of: DOID 365
subclass of: DOID 731
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

Axiom
annotated source: bladder benign neoplasm
annotated property: definition
annotated target: A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/

gastrointestinal system benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001007
subclass of: organ system benign neoplasm
subclass of: DOID 77
definition: An organ system benign neoplasm located_in gastrointestinal tract organs.
has_obo_namespace: disease_ontology
id: DOID:0050624

Axiom
annotated source: gastrointestinal system benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm located_in gastrointestinal tract organs.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract

biliary tract benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001173
subclass of: DOID 3117
subclass of: DOID 9741
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_2022_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

Axiom
annotated source: biliary tract benign neoplasm
annotated property: definition
annotated target: A hepatobiliary benign neoplasm located_in the biliary tract.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract

gastrointestinal neuroendocrine tumor
type: Class
subclass of: DOID 3119
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

Axiom
annotated source: gastrointestinal neuroendocrine tumor
annotated property: definition
annotated target: A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

advanced sleep phase syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 535
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
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: OMIM: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
comment: Xref MGI.

Axiom
annotated source: advanced sleep phase syndrome
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome

Aicardi-Goutieres syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000934
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: OMIM:225750
database_cross_reference: OMIM:610181
database_cross_reference: OMIM:610329
database_cross_reference: OMIM:610333
database_cross_reference: OMIM:612952
database_cross_reference: OMIM:615010
database_cross_reference: OMIM:615846
database_cross_reference: OMIM:PS225750
database_cross_reference: ORDO:51
has_exact_synonym: Cree encephalitis
has_obo_namespace: disease_ontology
id: DOID:0050629
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Aicardi-Goutieres syndrome
annotated property: definition
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.
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/

Aland Island eye disease
type: Class
subclass of: DOID_0080012
subclass of: DOID 5614
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: OMIM:300600
has_exact_synonym: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
has_exact_synonym: Forsius-Eriksson syndrome
has_obo_namespace: disease_ontology
id: DOID:0050630

Axiom
annotated source: Aland Island eye disease
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/300600

Allan-Herndon-Dudley syndrome
type: Class
subclass of: DOID_0080012
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
database_cross_reference: GARD:5617
database_cross_reference: MESH:C537047
database_cross_reference: OMIM:300523
database_cross_reference: ORDO:59
has_exact_synonym: AHDS
has_exact_synonym: ALLAN-HERNDON SYNDROME
has_obo_namespace: disease_ontology
id: DOID:0050631
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Allan-Herndon-Dudley syndrome
annotated property: definition
annotated target: A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
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

oculocutaneous albinism
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM:PS203100
database_cross_reference: ORDO:55
has_obo_namespace: disease_ontology
id: DOID:0050632
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: oculocutaneous albinism
annotated property: definition
annotated target: A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Oculocutaneous_albinism
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism

ocular albinism
type: Class
subclass of: DOID 5614
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: OMIM:300500
has_obo_namespace: disease_ontology
id: DOID:0050633

Axiom
annotated source: ocular albinism
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/ocular-albinism

alopecia universalis
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 987
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: OMIM:203655
has_exact_synonym: ALOPECIA UNIVERSALIS CONGENITA
has_obo_namespace: disease_ontology
id: DOID:0050634

Axiom
annotated source: alopecia universalis
annotated property: definition
annotated target: An alopecia characterized by the complete loss of hair on the scalp and body.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis

alternating hemiplegia of childhood
type: Class
subclass of: DOID_10969
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: OMIM:104290
database_cross_reference: OMIM:614820
database_cross_reference: OMIM:PS104290
database_cross_reference: ORDO:2131
has_exact_synonym: AHC
has_obo_namespace: disease_ontology
id: DOID:0050635
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: alternating hemiplegia of childhood
annotated property: definition
annotated target: A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

familial visceral amyloidosis
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 655
subclass of: DOID 9120
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
database_cross_reference: GARD:8282
database_cross_reference: OMIM: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: systemic nonneuropathic amyloidosis
has_obo_namespace: disease_ontology
id: DOID:0050636
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial visceral amyloidosis
annotated property: definition
annotated target: An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Familial_renal_amyloidosis

Finnish type amyloidosis
type: Class
subclass of: primary cutaneous amyloidosis
subclass of: autosomal dominant disease
subclass of: DOID 5614
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: DOID 3144
subclass of: Restriction
  on property: RO_0004029
  some values from: DOID 8943
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Finnish type amyloidosis
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type

transthyretin amyloidosis
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 114
subclass of: DOID 655
subclass of: DOID 9120
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: OMIM: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-related hereditary amyloidosis
has_obo_namespace: disease_ontology
id: DOID:0050638
in_subset: DO_FlyBase_slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: transthyretin amyloidosis
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007646
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

primary cutaneous amyloidosis
type: Class
equivalent class: Class
  intersection of: DOID 9120
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
subclass of: DOID 37
subclass of: DOID 655
subclass of: DOID 9120
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: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: primary cutaneous amyloidosis
annotated property: definition
annotated target: An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19663869

anauxetic dysplasia 1
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080942
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: OMIM:607095
has_exact_synonym: spondylometaepiphyseal dysplasia, Menger type
has_obo_namespace: disease_ontology
id: DOID:0050640
in_subset: DO_rare_slim

Axiom
annotated source: anauxetic dysplasia 1
annotated property: definition
annotated target: An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
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/

Rh deficiency syndrome
type: Class
subclass of: DOID 583
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: OMIM:268150
has_obo_namespace: disease_ontology
id: DOID:0050641
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Rh deficiency syndrome
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

hypochromic microcytic anemia
type: Class
subclass of: DOID_11252
definition: A microcytic anemia characterized by paler than normal blood cells.
database_cross_reference: OMIM:206100
database_cross_reference: OMIM:615234
has_obo_namespace: disease_ontology
id: DOID:0050642
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hypochromic microcytic anemia
annotated property: definition
annotated target: A microcytic anemia characterized by paler than normal blood cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hypochromic_anemia

obsolete anonychia congenita
type: Class
has_obo_namespace: disease_ontology
id: DOID:0050643
owl:deprecated: true

arterial calcification of infancy
type: Class
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: OMIM:208000
database_cross_reference: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: arterial calcification of infancy
annotated property: definition
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.
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

arterial tortuosity syndrome
type: Class
subclass of: DOID 65
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: OMIM:208050
has_obo_namespace: disease_ontology
id: DOID:0050645
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: arterial tortuosity syndrome
annotated property: definition
annotated target: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

distal arthrogryposis
type: Class
subclass of: DOID 66
definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
database_cross_reference: GARD:786
database_cross_reference: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: distal arthrogryposis
annotated property: definition
annotated target: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Arthrogryposis

Arts syndrome
type: Class
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: OMIM:301835
database_cross_reference: ORDO:1187
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Arts syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
dc:type: ECO_0007646
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

atelosteogenesis
type: Class
subclass of: spinal disease
subclass of: DOID 2256
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: OMIM:108720
database_cross_reference: OMIM:108721
database_cross_reference: OMIM:256050
has_obo_namespace: disease_ontology
id: DOID:0050648
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: atelosteogenesis
annotated property: definition
annotated target: An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

atransferrinemia
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 896
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: NCI:C125693
database_cross_reference: OMIM:209300
database_cross_reference: ORDO:1195
has_exact_synonym: familial hypotransferrinemia
has_obo_namespace: disease_ontology
id: DOID:0050649
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: atransferrinemia
annotated property: definition
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.
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

familial atrial fibrillation
type: Class
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: OMIM:607554
database_cross_reference: OMIM:608583
database_cross_reference: OMIM:608988
database_cross_reference: OMIM:611493
database_cross_reference: OMIM:611494
database_cross_reference: OMIM:612201
database_cross_reference: OMIM:612240
database_cross_reference: OMIM:613055
database_cross_reference: OMIM:613980
database_cross_reference: OMIM:614022
database_cross_reference: OMIM:614049
database_cross_reference: OMIM:614050
database_cross_reference: OMIM:615377
database_cross_reference: OMIM:615378
database_cross_reference: OMIM:615770
database_cross_reference: OMIM:PS608583
database_cross_reference: ORDO:334
has_exact_synonym: ATFB
has_obo_namespace: disease_ontology
id: DOID:0050650
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: familial atrial fibrillation
annotated property: definition
annotated target: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Familial_atrial_fibrillation

atrioventricular septal defect
type: Class
equivalent class: Class
  intersection of: DOID 114
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0005989
subclass of: DOID 1681
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: OMIM:600309
database_cross_reference: OMIM:606215
database_cross_reference: OMIM:614430
database_cross_reference: OMIM:614474
database_cross_reference: ORDO:98722
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: atrioventricular septal defect
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrioventricular_septal_defect
database_cross_reference: url:http://www.cdc.gov/ncbddd/heartdefects/avsd.html

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
subclass of: DOID_11971
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: OMIM:218600
database_cross_reference: ORDO:1223
database_cross_reference: SNOMEDCT_US_2022_09_01:77608001
database_cross_reference: UMLS_CUI:C0265308
has_obo_namespace: disease_ontology
id: DOID:0050654
in_subset: DO_rare_slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Baller-Gerold syndrome
annotated property: definition
annotated target: A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007646
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/

Bamforth-Lazarus syndrome
type: Class
subclass of: DOID 1459
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: OMIM:241850
has_exact_synonym: HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
has_obo_namespace: disease_ontology
id: DOID:0050655
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bamforth-Lazarus syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome

pseudo-TORCH syndrome 1
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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 OCLN on chromosome 5q13.2.
database_cross_reference: GARD:12426
database_cross_reference: OMIM: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

Axiom
annotated source: pseudo-TORCH syndrome 1
annotated property: definition
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 OCLN on chromosome 5q13.2.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20727516

Bannayan-Riley-Ruvalcaba syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 6457
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.
database_cross_reference: GARD:5887
database_cross_reference: ICD10CM:Q87.89
database_cross_reference: MESH:D006223
database_cross_reference: NCI:C3939
database_cross_reference: OMIM:158350
database_cross_reference: ORDO:109
has_exact_synonym: Bannayan-Zonana syndrome
has_exact_synonym: Cowden syndrome 1
has_exact_synonym: Riley-Smith syndrome
has_exact_synonym: Ruvalcaba-Myhre-Smith syndrome
has_obo_namespace: disease_ontology
id: DOID:0050657
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bannayan-Riley-Ruvalcaba syndrome
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1488/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/31062505

Bart-Pumphrey syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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: OMIM:149200
has_exact_synonym: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
has_obo_namespace: disease_ontology
id: DOID:0050658
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bart-Pumphrey syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome

biotin-responsive basal ganglia disease
type: Class
subclass of: DOID 679
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: DOID 543
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: OMIM:607483
has_obo_namespace: disease_ontology
id: DOID:0050659
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: biotin-responsive basal ganglia disease
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007646
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/

Beare-Stevenson cutis gyrata syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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: OMIM:123790
has_obo_namespace: disease_ontology
id: DOID:0050660
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Beare-Stevenson cutis gyrata syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome

vitelliform macular dystrophy
type: Class
subclass of: DOID 4448
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: GARD:10120
database_cross_reference: GARD:182
database_cross_reference: ICD10CM:H35.5
database_cross_reference: MESH:D057826
database_cross_reference: OMIM:153700
database_cross_reference: OMIM:153840
database_cross_reference: OMIM:608161
database_cross_reference: OMIM:616151
database_cross_reference: OMIM: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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: vitelliform macular dystrophy
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

bestrophinopathy
type: Class
subclass of: DOID 4448
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: OMIM:611809
has_exact_synonym: autosomal recessive bestrophinopathy
has_obo_namespace: disease_ontology
id: DOID:0050662
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: bestrophinopathy
annotated property: definition
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.
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

Bethlem myopathy
type: Class
subclass of: congenital muscular dystrophy
definition: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.
database_cross_reference: GARD:873
database_cross_reference: MESH:C535436
database_cross_reference: OMIM:158810
has_exact_synonym: benign congenital muscular dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050663
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bethlem myopathy
annotated property: definition
annotated target: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy

Bietti crystalline corneoretinal dystrophy
type: Class
subclass of: DOID 8466
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: OMIM:210370
has_exact_synonym: Bietti's crystalline dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050664
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bietti crystalline corneoretinal dystrophy
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy

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

Axiom
annotated source: fetal alcohol syndrome
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html

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
annotated source: partial fetal alcohol syndrome
annotated property: definition
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.
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

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
annotated source: alcohol-related neurodevelopmental disorder
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder

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
annotated source: alcohol-related birth defects
annotated property: definition
annotated target: A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
dc:type: ECO_0007637
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html

spastic cerebral palsy
type: Class
subclass of: DOID 1969
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

Axiom
annotated source: spastic cerebral palsy
annotated property: definition
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.
database_cross_reference: url:http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html

ataxic cerebral palsy
type: Class
subclass of: DOID 1969
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: OMIM:605388
has_exact_synonym: hypotonic cerebral palsy
has_obo_namespace: disease_ontology
id: DOID:0050670

Axiom
annotated source: ataxic cerebral palsy
annotated property: definition
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.
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

female breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that develops from breast tissue in females.
created_by: snadendla
creation_date: 2011-06-15T02:48:20Z
has_obo_namespace: disease_ontology
id: DOID:0050671

Axiom
annotated source: female breast cancer
annotated property: definition
annotated target: A breast cancer that develops from breast tissue in females.
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

dyskinetic cerebral palsy
type: Class
subclass of: DOID 1969
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
annotated source: dyskinetic cerebral palsy
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic

mixed cerebral palsy
type: Class
subclass of: DOID 1969
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
annotated source: mixed cerebral palsy
annotated property: definition
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.
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

congenital bile acid synthesis defect
type: Class
subclass of: DOID_0080015
subclass of: DOID 1701
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
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
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital bile acid synthesis defect
annotated property: definition
annotated target: A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
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

Birk-Barel syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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: OMIM:612292
has_exact_synonym: Birk-Barel mental retardation dysmorphism syndrome
has_obo_namespace: disease_ontology
id: DOID:0050675
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Birk-Barel syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy

Birt-Hogg-Dube syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 37
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: OMIM:135150
has_obo_namespace: disease_ontology
id: DOID:0050676
in_subset: DO_FlyBase_slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Birt-Hogg-Dube syndrome
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/

Bjornstad syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM:262000
database_cross_reference: ORDO:123
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bjornstad syndrome
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/

Blau syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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: NCI:C116794
database_cross_reference: OMIM:186580
has_exact_synonym: ARTHROCUTANEOUVEAL GRANULOMATOSIS
has_exact_synonym: BLAUS
has_exact_synonym: Jabs syndrome
has_obo_namespace: disease_ontology
id: DOID:0050678
in_subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Blau syndrome
annotated property: definition
annotated target: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
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

blue cone monochromacy
type: Class
subclass of: DOID_0080012
subclass of: DOID_13911
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 recessive X-linked inheritance.
database_cross_reference: GARD:917
database_cross_reference: OMIM:303700
has_obo_namespace: disease_ontology
id: DOID:0050679
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: blue cone monochromacy
annotated property: definition
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 recessive X-linked inheritance.
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

Boomerang dysplasia
type: Class
subclass of: DOID 2256
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: OMIM:112310
has_obo_namespace: disease_ontology
id: DOID:0050680
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Boomerang dysplasia
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia

Borjeson-Forssman-Lehmann syndrome
type: Class
subclass of: syndromic X-linked intellectual disability
subclass of: DOID_0080012
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: NCI:C157122
database_cross_reference: OMIM:301900
database_cross_reference: ORDO:127
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Borjeson-Forssman-Lehmann syndrome
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1
database_cross_reference: url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html

Athabaskan brainstem dysgenesis syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 936
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: OMIM:601536
database_cross_reference: ORDO:69739
has_exact_synonym: NAVAJO BRAINSTEM SYNDROME
has_obo_namespace: disease_ontology
id: DOID:0050682
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Athabaskan brainstem dysgenesis syndrome
annotated property: definition
annotated target: A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
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

Bothnia retinal dystrophy
type: Class
subclass of: DOID 8501
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: OMIM:607475
has_exact_synonym: Vasterbotten dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050683
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bothnia retinal dystrophy
annotated property: definition
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.
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

Bowen-Conradi syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: OMIM:211180
database_cross_reference: ORDO:1270
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bowen-Conradi syndrome
annotated property: definition
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.
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

small cell carcinoma
type: Class
subclass of: DOID 305
definition: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
created_by: snadendla
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_2022_09_01:5958006
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

Axiom
annotated source: small cell carcinoma
annotated property: definition
annotated target: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Small_cell_carcinoma

organ system cancer
type: Class
subclass of: DOID 162
definition: A cancer that is classified based on the organ it starts in.
created_by: snadendla
creation_date: 2011-06-13T03:28:33Z
database_cross_reference: MESH:D009371
has_obo_namespace: disease_ontology
id: DOID:0050686

Axiom
annotated source: organ system cancer
annotated property: definition
annotated target: A cancer that is classified based on the organ it starts in.
database_cross_reference: url:https://www.cancer.gov/types/by-body-location

cell type cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000000
subclass of: DOID 162
definition: A cancer that is classified by the type of cell from which it is derived.
created_by: snadendla
creation_date: 2011-06-13T03:28:50Z
has_obo_namespace: disease_ontology
id: DOID:0050687
in_subset: DO_MGI_slim

Axiom
annotated source: cell type cancer
annotated property: definition
annotated target: A cancer that is classified by the type of cell from which it is derived.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cancer

anal canal cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000159
subclass of: DOID 5672
definition: A large intestine cancer that is located_in the terminal part of the large intestine.
created_by: snadendla
creation_date: 2011-06-14T01:34:36Z
has_obo_namespace: disease_ontology
id: DOID:0050688

Axiom
annotated source: anal canal cancer
annotated property: definition
annotated target: A large intestine cancer that is located_in the terminal part of the large intestine.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Anal_canal

brachydactyly-syndactyly syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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.
created_by: snadendla
creation_date: 2011-06-17T03:55:47Z
database_cross_reference: MESH:C565193
database_cross_reference: OMIM:610713
has_obo_namespace: disease_ontology
id: DOID:0050689
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: brachydactyly-syndactyly syndrome
annotated property: definition
annotated target: A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
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

brachyolmia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
created_by: snadendla
creation_date: 2011-06-17T04:00:27Z
database_cross_reference: GARD:10903
database_cross_reference: MESH:C537098
database_cross_reference: OMIM:113500
database_cross_reference: OMIM:271530
database_cross_reference: OMIM:271630
database_cross_reference: OMIM:613678
database_cross_reference: ORDO:1293
has_exact_synonym: brachyrachia
has_obo_namespace: disease_ontology
id: DOID:0050690
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: brachyolmia
annotated property: definition
annotated target: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10968486

branchiooculofacial syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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.
created_by: snadendla
creation_date: 2011-06-17T04:10:18Z
database_cross_reference: GARD:3212
database_cross_reference: OMIM:113620
has_obo_namespace: disease_ontology
id: DOID:0050691
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: branchiooculofacial syndrome
annotated property: definition
annotated target: A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007646
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

Brody myopathy
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001134
subclass of: DOID 913
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.
created_by: snadendla
creation_date: 2011-06-17T04:30:49Z
database_cross_reference: GARD:9158
database_cross_reference: MESH:C536607
database_cross_reference: OMIM:601003
has_obo_namespace: disease_ontology
id: DOID:0050692
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Brody myopathy
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/brody-myopathy
database_cross_reference: url:https://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions

Brooke-Spiegler syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 37
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.
created_by: snadendla
creation_date: 2011-06-17T04:34:10Z
database_cross_reference: GARD:10179
database_cross_reference: OMIM:605041
database_cross_reference: ORDO:79493
database_cross_reference: SNOMEDCT_US_2022_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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Brooke-Spiegler syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome

Brown-Vialetto-Van Laere syndrome
type: Class
subclass of: DOID 225
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.
created_by: snadendla
creation_date: 2011-06-17T04:38:07Z
database_cross_reference: MESH:C537111
database_cross_reference: OMIM:PS211530
has_obo_namespace: disease_ontology
id: DOID:0050694
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Brown-Vialetto-Van Laere syndrome
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21110228

malignant pleural solitary fibrous tumor
type: Class
subclass of: DOID 5158
definition: A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.
created_by: snadendla
creation_date: 2011-06-27T09:57:44Z
has_obo_namespace: disease_ontology
id: DOID:0050695

Axiom
annotated source: malignant pleural solitary fibrous tumor
annotated property: definition
annotated target: A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17075563

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.
created_by: lschriml
creation_date: 2011-12-01T01:01:25Z
has_obo_namespace: disease_ontology
id: DOID:0050696

Axiom
annotated source: fetal alcohol spectrum disorder
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
database_cross_reference: url:http://www.cdc.gov/ncbddd/fasd/facts.html

chorioamnionitis
type: Class
subclass of: DOID 780
definition: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
created_by: lschriml
creation_date: 2012-01-03T01:13:08Z
database_cross_reference: MESH:D002821
has_obo_namespace: disease_ontology
id: DOID:0050697

Axiom
annotated source: chorioamnionitis
annotated property: definition
annotated target: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
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

funisitis
type: Class
subclass of: DOID 65
definition: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
created_by: lschriml
creation_date: 2012-01-03T01:18:35Z
has_obo_namespace: disease_ontology
id: DOID:0050698

Axiom
annotated source: funisitis
annotated property: definition
annotated target: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Funisitis

Dent disease
type: Class
subclass of: DOID_0080012
subclass of: DOID 447
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 and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
created_by: lschriml
creation_date: 2015-03-12T14:32:47Z
database_cross_reference: GARD:13105
database_cross_reference: MESH:C538212
database_cross_reference: MESH:C564487
database_cross_reference: MESH:D057973
database_cross_reference: NCI:C123260
database_cross_reference: OMIM:300009
database_cross_reference: OMIM:300555
database_cross_reference: ORDO:1652
database_cross_reference: SNOMEDCT_US_2022_09_01:444645005
database_cross_reference: SNOMEDCT_US_2022_09_01:717789008
database_cross_reference: SNOMEDCT_US_2022_09_01:717790004
database_cross_reference: UMLS_CUI:C0878681
database_cross_reference: UMLS_CUI:C1845167
database_cross_reference: UMLS_CUI:C1848336
has_exact_synonym: Dent disease 1
has_exact_synonym: Dent disease 2
has_exact_synonym: Dent's disease
has_obo_namespace: disease_ontology
id: DOID:0050699
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Dent disease
annotated property: definition
annotated target: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
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

cardiomyopathy
type: Class
subclass of: DOID 114
definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
created_by: lschriml
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_2022_09_01:266301006
database_cross_reference: SNOMEDCT_US_2022_09_01:89461002
database_cross_reference: SNOMEDCT_US_2022_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
comment: MESH:D009202 added from NeuroDevNet [WAK].

Axiom
annotated source: cardiomyopathy
annotated property: definition
annotated target: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiomyopathy
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/

electroclinical syndrome
type: Class
subclass of: DOID 1826
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.
created_by: lschriml
creation_date: 2012-04-11T11:42:46Z
has_exact_synonym: electro-clinical syndrome
has_obo_namespace: disease_ontology
id: DOID:0050701

Axiom
annotated source: electroclinical syndrome
annotated property: definition
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.
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

neonatal period electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
definition: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050702
comment: JA:Epilepsy Genetics Kiel

Axiom
annotated source: neonatal period electroclinical syndrome
annotated property: definition
annotated target: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
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

infancy electroclinical syndrome
type: Class
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.
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050703
comment: JA:Epilepsy Genetics Kiel

Axiom
annotated source: infancy electroclinical syndrome
annotated property: definition
annotated target: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795

childhood electroclinical syndrome
type: Class
subclass of: DOID_0070309
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.
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050704
comment: JA:Epilepsy Genetics Kiel

Axiom
annotated source: childhood electroclinical syndrome
annotated property: definition
annotated target: An electroclinical syndrome with onset in childhood between one and 12 years of age.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795

adolescence-adult electroclinical syndrome
type: Class
subclass of: DOID_0070309
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.
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050705

Axiom
annotated source: adolescence-adult electroclinical syndrome
annotated property: definition
annotated target: An electroclinical syndrome with onset in adolescence and adulthood.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20196795
comment: JA:Epilepsy_Genetics_Kiel

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.
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
id: DOID:0050706

Axiom
annotated source: variable age at onset electroclinical syndrome
annotated property: definition
annotated target: An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/

obsolete nonsyndromic epilepsy
type: Class
created_by: lschriml
creation_date: 2012-04-11T01:42:13Z
has_obo_namespace: disease_ontology
id: DOID:0050707
owl:deprecated: true

early onset absence epilepsy
type: Class
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.
created_by: lschriml
creation_date: 2012-04-11T02:29:04Z
has_obo_namespace: disease_ontology
id: DOID:0050708
comment: JA:Epilepsy Genetics Kiel

Axiom
annotated source: early onset absence epilepsy
annotated property: definition
annotated target: A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24099057

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.
created_by: lschriml
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

Axiom
annotated source: early infantile epileptic encephalopathy
annotated property: definition
annotated target: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
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

3-Methylcrotonyl-CoA carboxylase deficiency
type: Class
equivalent class: Class
  intersection of: DOID 9252
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002385
subclass of: autosomal recessive disease
subclass of: DOID_0080000
subclass of: DOID 9252
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.
created_by: lschriml
creation_date: 2012-05-22T10:32:44Z
database_cross_reference: GARD:10954
database_cross_reference: OMIM: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

Axiom
annotated source: 3-Methylcrotonyl-CoA carboxylase deficiency
annotated property: definition
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.
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

aceruloplasminemia
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2351
subclass of: DOID 655
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.
created_by: lschriml
creation_date: 2012-05-22T11:47:25Z
database_cross_reference: GARD:9499
database_cross_reference: OMIM:604290
has_obo_namespace: disease_ontology
id: DOID:0050711

Axiom
annotated source: aceruloplasminemia
annotated property: definition
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.
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

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.
created_by: lschriml
creation_date: 2012-05-22T11:53:57Z
database_cross_reference: OMIM:612718
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
has_exact_synonym: arginine:glycine amidinotransferase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050712

Axiom
annotated source: AGAT deficiency
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
type: Class
subclass of: DOID 700
definition: A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase.
created_by: lschriml
creation_date: 2012-05-22T01:03:41Z
database_cross_reference: ORDO:1561
has_exact_synonym: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
has_exact_synonym: fatal infantile COX 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
comment: Xref MGI.

Axiom
annotated source: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
annotated property: definition
annotated target: A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/604377

methylmalonic aciduria and homocystinuria type cblC
type: Class
subclass of: DOID_14749
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.
created_by: lschriml
creation_date: 2012-05-23T03:26:25Z
database_cross_reference: OMIM:277400
has_exact_synonym: Cobalamin C deficiency
has_obo_namespace: disease_ontology
id: DOID:0050715

Axiom
annotated source: methylmalonic aciduria and homocystinuria type cblC
annotated property: definition
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.
dc:type: ECO_0007636

methylmalonic aciduria and homocystinuria type cblD
type: Class
subclass of: DOID_14749
definition: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
created_by: lschriml
creation_date: 2012-05-23T03:26:25Z
database_cross_reference: OMIM:277410
has_exact_synonym: Cobalamin D deficiency
has_obo_namespace: disease_ontology
id: DOID:0050716

Axiom
annotated source: methylmalonic aciduria and homocystinuria type cblD
annotated property: definition
annotated target: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18385497

methylmalonic aciduria and homocystinuria type cblF
type: Class
subclass of: DOID_14749
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.
created_by: lschriml
creation_date: 2012-05-23T03:26:25Z
database_cross_reference: OMIM:277380
has_exact_synonym: Cobalamin F deficiency
has_obo_namespace: disease_ontology
id: DOID:0050717

Axiom
annotated source: methylmalonic aciduria and homocystinuria type cblF
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21910240

vitamin metabolic disorder
type: Class
subclass of: DOID 655
definition: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
created_by: lschriml
creation_date: 2012-06-11T02:44:53Z
has_obo_namespace: disease_ontology
id: DOID:0050718

Axiom
annotated source: vitamin metabolic disorder
annotated property: definition
annotated target: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism

cerebral folate receptor alpha deficiency
type: Class
subclass of: vitamin metabolic disorder
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
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.
created_by: lschriml
creation_date: 2012-06-11T02:58:59Z
database_cross_reference: OMIM:613068
has_obo_namespace: disease_ontology
id: DOID:0050719

Axiom
annotated source: cerebral folate receptor alpha deficiency
annotated property: definition
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.
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

ornithine translocase deficiency
type: Class
subclass of: DOID 9252
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.
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: OMIM:238970
has_exact_synonym: HHH syndrome
has_exact_synonym: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
has_obo_namespace: disease_ontology
id: DOID:0050720

Axiom
annotated source: ornithine translocase deficiency
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx

serine deficiency
type: Class
subclass of: DOID 9252
definition: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z
has_obo_namespace: disease_ontology
id: DOID:0050721

Axiom
annotated source: serine deficiency
annotated property: definition
annotated target: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15021249

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.
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: MESH:C566618
database_cross_reference: OMIM:601815
has_exact_synonym: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
has_obo_namespace: disease_ontology
id: DOID:0050722

Axiom
annotated source: PHGDH deficiency
annotated property: definition
annotated target: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
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

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.
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: OMIM:610992
has_exact_synonym: Phosphoserine aminotransferase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050723

Axiom
annotated source: PSAT deficiency
annotated property: definition
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.
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

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.
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: OMIM:614023
has_exact_synonym: PSPHD
has_exact_synonym: Phosphoserine phosphatase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050724

Axiom
annotated source: PSPH deficiency
annotated property: definition
annotated target: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
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

tyrosinemia type II
type: Class
equivalent class: Class
  intersection of: DOID 9252
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002107
subclass of: DOID 37
subclass of: DOID 409
subclass of: DOID 9275
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.
created_by: lschriml
creation_date: 2012-06-13T03:09:31Z
database_cross_reference: OMIM:276600
has_exact_synonym: Oculocutaneous tyrosinemia
has_exact_synonym: Richner-Hanhart syndrome
has_obo_namespace: disease_ontology
id: DOID:0050725

Axiom
annotated source: tyrosinemia type II
annotated property: definition
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.
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

tyrosinemia type I
type: Class
subclass of: DOID 9275
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.
created_by: lschriml
creation_date: 2012-07-06T02:55:45Z
database_cross_reference: OMIM:276700
has_exact_synonym: hepatorenal tyrosinemia
has_obo_namespace: disease_ontology
id: DOID:0050726

Axiom
annotated source: tyrosinemia type I
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Type_I_tyrosinemia

tyrosinemia type III
type: Class
subclass of: DOID 9275
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.
created_by: lschriml
creation_date: 2012-07-06T02:55:45Z
database_cross_reference: OMIM:276710
has_obo_namespace: disease_ontology
id: DOID:0050727

Axiom
annotated source: tyrosinemia type III
annotated property: definition
annotated target: A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Type_III_tyrosinemia

glycogen metabolism disorder
type: Class
subclass of: DOID 2978
definition: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
created_by: lschriml
creation_date: 2012-07-13T10:42:54Z
has_obo_namespace: disease_ontology
id: DOID:0050728

Axiom
annotated source: glycogen metabolism disorder
annotated property: definition
annotated target: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism

neutral lipid storage disease
type: Class
subclass of: DOID 9455
definition: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
created_by: lschriml
creation_date: 2012-07-17T12:31:48Z
database_cross_reference: OMIM:275630
has_exact_synonym: Chanarin-Dorfman syndrome
has_obo_namespace: disease_ontology
id: DOID:0050729

Axiom
annotated source: neutral lipid storage disease
annotated property: definition
annotated target: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome

coenzyme Q10 deficiency disease
type: Class
subclass of: DOID 700
definition: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
created_by: lschriml
creation_date: 2012-07-17T12:58:37Z
database_cross_reference: GARD:10423
database_cross_reference: OMIM:PS607426
has_exact_synonym: COENZYME Q10 DEFICIENCY, PRIMARY
has_obo_namespace: disease_ontology
id: DOID:0050730

Axiom
annotated source: coenzyme Q10 deficiency disease
annotated property: definition
annotated target: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity

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.
created_by: lschriml
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
annotated source: vitamin B12 deficiency
annotated property: definition
annotated target: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/B12_deficiency

methylmalonic aciduria and homocystinuria type cblE
type: Class
subclass of: DOID_14749
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 on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.
created_by: lschriml
creation_date: 2012-07-17T01:42:35Z
has_obo_namespace: disease_ontology
id: DOID:0050732

Axiom
annotated source: methylmalonic aciduria and homocystinuria type cblE
annotated property: definition
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 on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.
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

methylmalonic aciduria and homocystinuria type cblG
type: Class
subclass of: DOID_14749
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.
created_by: lschriml
creation_date: 2012-07-17T01:42:35Z
has_obo_namespace: disease_ontology
id: DOID:0050733

Axiom
annotated source: methylmalonic aciduria and homocystinuria type cblG
annotated property: definition
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.
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

congenital intrinsic factor deficiency
type: Class
subclass of: vitamin B12 deficiency
subclass of: DOID_0080015
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.
created_by: lschriml
creation_date: 2012-07-17T01:52:57Z
database_cross_reference: OMIM:261000
has_exact_synonym: hereditary intrinsic factor deficiency
has_obo_namespace: disease_ontology
id: DOID:0050734

Axiom
annotated source: congenital intrinsic factor deficiency
annotated property: definition
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.
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

X-linked monogenic disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000936
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
created_by: lschriml
creation_date: 2012-07-24T12:47:31Z
has_obo_namespace: disease_ontology
id: DOID:0050735
in_subset: DO_MGI_slim

Axiom
annotated source: X-linked monogenic disease
annotated property: definition
annotated target: A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

autosomal dominant disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000147
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.
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z
has_obo_namespace: disease_ontology
id: DOID:0050736

Axiom
annotated source: autosomal dominant disease
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007640
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=autosomaldominant
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm

autosomal recessive disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000148
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.
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z
has_obo_namespace: disease_ontology
id: DOID:0050737

Axiom
annotated source: autosomal recessive disease
annotated property: definition
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.
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

Y-linked monogenic disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000941
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in mutations on the Y chromosome.
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z
has_obo_namespace: disease_ontology
id: DOID:0050738
in_subset: DO_MGI_slim

Axiom
annotated source: Y-linked monogenic disease
annotated property: definition
annotated target: A monogenic disease that has_material_basis_in mutations on the Y chromosome.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked

autosomal genetic disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: has material basis in
    some values from: GENO_0000934
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
created_by: lschriml
creation_date: 2012-07-24T04:45:53Z
has_obo_namespace: disease_ontology
id: DOID:0050739
in_subset: DO_MGI_slim

Axiom
annotated source: autosomal genetic disease
annotated property: definition
annotated target: A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/glossary=autosomaldominant
database_cross_reference: url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns

Qazi Markouizos syndrome
type: Class
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2012-08-10T01:08:47Z
database_cross_reference: GARD:371
database_cross_reference: MESH:C536259
database_cross_reference: OMIM:600096
has_exact_synonym: Dysharmonic skeletal maturation - muscular fibre disproportion
has_exact_synonym: Qazi-Markouizos syndrome
has_obo_namespace: disease_ontology
id: DOID:0050740

Axiom
annotated source: Qazi Markouizos syndrome
annotated property: definition
annotated target: A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
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

alcohol dependence
type: Class
subclass of: DOID 9973
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.
created_by: lschriml
creation_date: 2012-09-05T11:48:42Z
database_cross_reference: EFO:0003829
database_cross_reference: KEGG:05034
database_cross_reference: OMIM: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
in_subset: NCIthesaurus

Axiom
annotated source: alcohol dependence
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Alcohol_dependence

nicotine dependence
type: Class
subclass of: DOID 9973
definition: A substance dependence that is characterized by a physical dependence on nicotine.
created_by: lschriml
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_2022_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
annotated source: nicotine dependence
annotated property: definition
annotated target: A substance dependence that is characterized by a physical dependence on nicotine.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Nicotine_dependence

mature T-cell and NK-cell lymphoma
type: Class
subclass of: DOID_0081312
definition: A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
created_by: lschriml
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

Axiom
annotated source: mature T-cell and NK-cell lymphoma
annotated property: definition
annotated target: A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
dc:type: ECO_0007637
dc:type: ECO_0007641
dc:type: ECO_0007645
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

anaplastic large cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
definition: A non-Hodgkin lymphoma involving aberrant T-cells.
created_by: lschriml
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

Axiom
annotated source: anaplastic large cell lymphoma
annotated property: definition
annotated target: A non-Hodgkin lymphoma involving aberrant T-cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology

diffuse large B-cell lymphoma
type: Class
subclass of: DOID 707
definition: A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
created_by: lschriml
creation_date: 2012-09-18T01:58:25Z
database_cross_reference: GARD:3178
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

Axiom
annotated source: diffuse large B-cell lymphoma
annotated property: definition
annotated target: A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
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

mantle cell lymphoma
type: Class
subclass of: DOID 707
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.
created_by: lschriml
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

Axiom
annotated source: mantle cell lymphoma
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma

lymphoplasmacytic lymphoma
type: Class
subclass of: DOID 707
definition: A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
created_by: lschriml
creation_date: 2012-09-18T02:00:45Z
database_cross_reference: ICDO:9671/3
has_obo_namespace: disease_ontology
id: DOID:0050747
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: lymphoplasmacytic lymphoma
annotated property: definition
annotated target: A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma

marginal zone B-cell lymphoma
type: Class
equivalent class: Class
  intersection of: lymphoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: CL_0000845
subclass of: DOID 707
subclass of: DOID 9500
definition: A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
created_by: lschriml
creation_date: 2012-09-18T02:00:45Z
database_cross_reference: ICDO:9699/3
database_cross_reference: MESH:D018442
has_exact_synonym: marginal zone lymphoma
has_obo_namespace: disease_ontology
id: DOID:0050748
in_subset: DO_cancer_slim

Axiom
annotated source: marginal zone B-cell lymphoma
annotated property: definition
annotated target: A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

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.
created_by: lschriml
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

Axiom
annotated source: peripheral T-cell lymphoma
annotated property: definition
annotated target: A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma

splenic marginal zone lymphoma
type: Class
subclass of: marginal zone B-cell lymphoma
subclass of: DOID 672
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002106
definition: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
created_by: lschriml
creation_date: 2012-09-18T02:03:06Z
has_obo_namespace: disease_ontology
id: DOID:0050750

Axiom
annotated source: splenic marginal zone lymphoma
annotated property: definition
annotated target: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma

T-cell large granular lymphocyte leukemia
type: Class
subclass of: DOID 5603
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.
created_by: lschriml
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

Axiom
annotated source: T-cell large granular lymphocyte leukemia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia

amyotrophic lateral sclerosis type 8
type: Class
subclass of: DOID 332
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: OMIM: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

Axiom
annotated source: amyotrophic lateral sclerosis type 8
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
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

cerebellar ataxia
type: Class
subclass of: hereditary ataxia
subclass of: DOID 2786
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.
created_by: lschriml
creation_date: 2013-01-16T01:07:02Z
database_cross_reference: MESH:D002524
has_obo_namespace: disease_ontology
id: DOID:0050753

Axiom
annotated source: cerebellar ataxia
annotated property: definition
annotated target: A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cerebellar_ataxia

ataxia with oculomotor apraxia type 1
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.
created_by: lschriml
creation_date: 2013-01-16T01:07:02Z
database_cross_reference: GARD:9283
database_cross_reference: OMIM:208920
has_obo_namespace: disease_ontology
id: DOID:0050754

Axiom
annotated source: ataxia with oculomotor apraxia type 1
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1

ataxia with oculomotor apraxia type 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, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.
created_by: lschriml
creation_date: 2013-01-16T01:07:02Z
database_cross_reference: OMIM:606002
has_obo_namespace: disease_ontology
id: DOID:0050755

Axiom
annotated source: ataxia with oculomotor apraxia type 2
annotated property: definition
annotated target: An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1154/

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: DOID 700
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.
created_by: lschriml
creation_date: 2013-01-16T01:20:50Z
has_alternative_id: DOID:0050867
database_cross_reference: MESH:C535808
database_cross_reference: OMIM: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

Axiom
annotated source: deafness-dystonia-optic neuronopathy syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007646
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/

metabolic acidosis
type: Class
subclass of: acquired metabolic disease
definition: An acquired metabolic disease that characterized by excessive production of acid.
created_by: lschriml
creation_date: 2013-01-16T01:23:37Z
has_obo_namespace: disease_ontology
id: DOID:0050758

Axiom
annotated source: metabolic acidosis
annotated property: definition
annotated target: An acquired metabolic disease that characterized by excessive production of acid.
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

myotonic dystrophy type 2
type: Class
subclass of: DOID 450
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.
created_by: lschriml
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: NCI:C84913
database_cross_reference: OMIM:602668
database_cross_reference: ORDO:606
database_cross_reference: SNOMEDCT_US_2022_09_01:155096007
database_cross_reference: UMLS_CUI:C0553604
has_obo_namespace: disease_ontology
id: DOID:0050759
in_subset: NCIthesaurus

Axiom
annotated source: myotonic dystrophy type 2
annotated property: definition
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.
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/

X-linked myopathy with excessive autophagy
type: Class
subclass of: DOID_0080012
subclass of: DOID 423
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.
created_by: lschriml
creation_date: 2013-01-16T01:29:01Z
database_cross_reference: GARD:3892
database_cross_reference: OMIM:310440
has_exact_synonym: XMEA
has_obo_namespace: disease_ontology
id: DOID:0050760

Axiom
annotated source: X-linked myopathy with excessive autophagy
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/

obsolete paramyloidosis
type: Class
created_by: lschriml
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: DOID 9252
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.
created_by: lschriml
creation_date: 2013-01-17T12:42:58Z
database_cross_reference: GARD:550
database_cross_reference: OMIM:103050
has_obo_namespace: disease_ontology
id: DOID:0050762

Axiom
annotated source: adenylosuccinase lyase deficiency
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency

ARC syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2013-01-17T12:46:38Z
database_cross_reference: OMIM: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

Axiom
annotated source: ARC syndrome
annotated property: definition
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.
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

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.
created_by: lschriml
creation_date: 2013-01-17T12:48:15Z
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: OMIM: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
annotated source: Armfield syndrome
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10398235

neuroacanthocytosis
type: Class
subclass of: DOID 1289
definition: A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
created_by: lschriml
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

Axiom
annotated source: neuroacanthocytosis
annotated property: definition
annotated target: A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
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/

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.
created_by: lschriml
creation_date: 2013-01-17T12:54:19Z
database_cross_reference: GARD:3956
database_cross_reference: MESH:D054546
database_cross_reference: NCI:C84926
database_cross_reference: OMIM:200150
database_cross_reference: ORDO:2388
database_cross_reference: SNOMEDCT_US_2022_09_01:26848004
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: NCIthesaurus

Axiom
annotated source: choreaacanthocytosis
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
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

midface dysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.
created_by: lschriml
creation_date: 2013-02-21T11:19:14Z
has_obo_namespace: disease_ontology
id: DOID:0050767

Axiom
annotated source: midface dysplasia
annotated property: definition
annotated target: An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Frontonasal_dysplasia

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
type: Class
subclass of: DOID_0111143
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.
created_by: lschriml
creation_date: 2013-02-21T11:26:46Z
database_cross_reference: ICD10CM:E88.8
database_cross_reference: OMIM:604273
database_cross_reference: ORDO:254913
has_exact_synonym: MC5DN1
has_obo_namespace: disease_ontology
id: DOID:0050768
in_subset: DO_rare_slim

Axiom
annotated source: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
annotated property: definition
annotated target: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/604273

N syndrome
type: Class
subclass of: DOID 225
definition: A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
created_by: lschriml
creation_date: 2013-02-21T11:32:26Z
database_cross_reference: GARD:3902
database_cross_reference: MESH:C536108
database_cross_reference: OMIM:310465
database_cross_reference: ORDO:2608
has_exact_synonym: NSX
has_obo_namespace: disease_ontology
id: DOID:0050769

Axiom
annotated source: N syndrome
annotated property: definition
annotated target: A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3902/n-syndrome

polycystic liver disease
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 409
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.
created_by: lschriml
creation_date: 2013-02-21T11:36:13Z
has_alternative_id: DOID:1173
database_cross_reference: GARD:9457
database_cross_reference: MESH:C536330
database_cross_reference: OMIM:174050
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

Axiom
annotated source: polycystic liver disease
annotated property: definition
annotated target: A liver disease that is characterized by the presence of multiple cysts located_in the liver.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/polycystic-liver-disease/

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.
created_by: lschriml
creation_date: 2013-02-21T11:40:58Z
database_cross_reference: GARD:7385
database_cross_reference: ICDO:8700/3
database_cross_reference: MESH:D010673
database_cross_reference: OMIM:171300
has_exact_synonym: phaeochromocytoma
has_obo_namespace: disease_ontology
id: DOID:0050771
in_subset: DO_cancer_slim

Axiom
annotated source: pheochromocytoma
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
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

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.
created_by: lschriml
creation_date: 2015-09-17T14:42:06Z
database_cross_reference: OMIM:108600
has_obo_namespace: disease_ontology
id: DOID:0050772

Axiom
annotated source: spastic ataxia 1
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type

paraganglioma
type: Class
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.
created_by: lschriml
creation_date: 2013-02-21T11:51:57Z
database_cross_reference: ICDO:8680/3
database_cross_reference: MESH:D010235
database_cross_reference: NCI:C3308
database_cross_reference: OMIM:115310
database_cross_reference: OMIM:168000
database_cross_reference: OMIM:601650
database_cross_reference: OMIM:605373
database_cross_reference: OMIM:614165
database_cross_reference: OMIM:PS168000
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI.

Axiom
annotated source: paraganglioma
annotated property: definition
annotated target: A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Paraganglioma
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma

rapadilino syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2013-02-21T11:56:15Z
database_cross_reference: GARD:4637
database_cross_reference: MESH:C535288
database_cross_reference: OMIM:266280
database_cross_reference: ORDO:3021
database_cross_reference: SNOMEDCT_US_2022_09_01:702413000
database_cross_reference: UMLS_CUI:C1849453
has_obo_namespace: disease_ontology
id: DOID:0050774

Axiom
annotated source: rapadilino syndrome
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome

schneckenbecken dysplasia
type: Class
subclass of: DOID 2256
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.
created_by: lschriml
creation_date: 2013-02-21T12:00:39Z
database_cross_reference: GARD:169
database_cross_reference: MESH:C536637
database_cross_reference: OMIM:269250
has_obo_namespace: disease_ontology
id: DOID:0050775

Axiom
annotated source: schneckenbecken dysplasia
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia

non-syndromic X-linked intellectual disability
type: Class
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.
created_by: lschriml
creation_date: 2013-02-21T12:06:40Z
database_cross_reference: OMIM:300716
database_cross_reference: OMIM:PS309530
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
comment: Xref MGI.

Axiom
annotated source: non-syndromic X-linked intellectual disability
annotated property: definition
annotated target: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7011032

Joubert syndrome
type: Class
subclass of: ciliopathy
subclass of: DOID 936
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.
created_by: lschriml
creation_date: 2013-04-04T11:25:32Z
database_cross_reference: GARD:6802
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: OMIM:PS213300
database_cross_reference: ORDO:475
has_exact_synonym: JBTS
has_obo_namespace: disease_ontology
id: DOID:0050777
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: Joubert syndrome
annotated property: definition
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.
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

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.
created_by: lschriml
creation_date: 2013-04-04T11:28:16Z
database_cross_reference: GARD:3436
database_cross_reference: ICD9CM:753.1
database_cross_reference: OMIM:PS249000
database_cross_reference: ORDO:564
database_cross_reference: SNOMEDCT_US_2022_09_01:204954005
database_cross_reference: UMLS_CUI:C0311245
has_exact_synonym: Meckel-Gruber syndrome
has_obo_namespace: disease_ontology
id: DOID:0050778
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: Meckel syndrome
annotated property: definition
annotated target: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
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

hydrolethalus syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by mulitple 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.
created_by: lschriml
creation_date: 2013-06-24T12:50:06Z
database_cross_reference: GARD:6683
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MESH:C536079
database_cross_reference: OMIM: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
comment: Xref MGI.

Axiom
annotated source: hydrolethalus syndrome
annotated property: definition
annotated target: A syndrome characterized by mulitple 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.
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

obsolete Opitz-GBBB syndrome
type: Class
definition: A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.
created_by: lschriml
creation_date: 2013-06-24T01:18:03Z
has_obo_namespace: disease_ontology
id: DOID:0050780
owl:deprecated: true

Axiom
annotated source: obsolete Opitz-GBBB syndrome
annotated property: definition
annotated target: A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.
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

Ogden syndrome
type: Class
subclass of: X-linked monogenic disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2013-07-17T10:18:00Z
database_cross_reference: OMIM:300855
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
annotated source: Ogden syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432
database_cross_reference: url:https://en.wikipedia.org/wiki/Ogden_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21700266

Zollinger-Ellison syndrome
type: Class
subclass of: DOID 225
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.
created_by: lschriml
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_2022_09_01:267477002
database_cross_reference: UMLS_CUI:C0043515
has_obo_namespace: disease_ontology
id: DOID:0050782
in_subset: NCIthesaurus

Axiom
annotated source: Zollinger-Ellison syndrome
annotated property: definition
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.
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

secondary progressive multiple sclerosis
type: Class
subclass of: DOID 2377
definition: A multiple sclerosis that is characterised 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.
created_by: lschriml
creation_date: 2013-11-07T11:22:49Z
database_cross_reference: MESH:D020528
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: secondary progressive multiple sclerosis
annotated property: definition
annotated target: A multiple sclerosis that is characterised 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.
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

primary progressive multiple sclerosis
type: Class
subclass of: DOID 2377
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.
created_by: lschriml
creation_date: 2013-11-07T11:26:58Z
database_cross_reference: MESH:D020528
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: primary progressive multiple sclerosis
annotated property: definition
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.
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

progressive relapsing multiple sclerosis
type: Class
subclass of: DOID 2377
definition: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
created_by: lschriml
creation_date: 2013-11-07T11:32:37Z
database_cross_reference: MESH:D020528
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: progressive relapsing multiple sclerosis
annotated property: definition
annotated target: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/35400704/

iridogoniodysgenesis syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 240
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
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.
created_by: lschriml
creation_date: 2013-11-12T10:28:51Z
database_cross_reference: OMIM:137600
database_cross_reference: OMIM:601631
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
comment: Xref MGI.

Axiom
annotated source: iridogoniodysgenesis syndrome
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/3026/disease/resources/1
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19175065

juvenile polyposis syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 77
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.
created_by: lschriml
creation_date: 2013-11-12T11:25:28Z
database_cross_reference: GARD:3065
database_cross_reference: MESH:C537702
database_cross_reference: OMIM:174900
has_obo_namespace: disease_ontology
id: DOID:0050787
in_subset: DO_FlyBase_slim
in_subset: DO_cancer_slim

Axiom
annotated source: juvenile polyposis syndrome
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007646
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/

proximal symphalangism
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_0080001
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2013-11-12T11:43:22Z
database_cross_reference: GARD:8182
database_cross_reference: KEGG:H00484
database_cross_reference: OMIM: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

Axiom
annotated source: proximal symphalangism
annotated property: definition
annotated target: A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
dc:type: ECO_0007636
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1

tarsal-carpal coalition syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 1934
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.
created_by: lschriml
creation_date: 2013-11-12T11:50:00Z
database_cross_reference: OMIM:186570
has_obo_namespace: disease_ontology
id: DOID:0050789
in_subset: DO_rare_slim

Axiom
annotated source: tarsal-carpal coalition syndrome
annotated property: definition
annotated target: A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome
database_cross_reference: url:http://omim.org/entry/186570?search=186570&highlight=186570
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22326510

fibular hypoplasia and complex brachydactyly
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080049
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 characterised by severe reduction or absence of the fibula and complex brachydactyly.
created_by: lschriml
creation_date: 2013-11-12T12:21:56Z
database_cross_reference: KEGG:H00467
database_cross_reference: MESH:C537931
database_cross_reference: OMIM: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

Axiom
annotated source: fibular hypoplasia and complex brachydactyly
annotated property: definition
annotated target: An acromesomelic dysplasia that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
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

persistent Mullerian duct syndrome
type: Class
subclass of: DOID 3765
subclass of: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000991
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.
created_by: lschriml
creation_date: 2013-11-12T12:26:49Z
database_cross_reference: GARD:8435
database_cross_reference: MESH:C536665
database_cross_reference: NCI:C120188
database_cross_reference: OMIM:261550
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus

Axiom
annotated source: persistent Mullerian duct syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
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

multiple cutaneous and mucosal venous malformations
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 37
subclass of: DOID 866
subclass of: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000014
subclass of: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001638
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
created_by: lschriml
creation_date: 2013-11-12T12:38:33Z
database_cross_reference: MESH:C563977
database_cross_reference: OMIM:600195
database_cross_reference: ORDO:2451
database_cross_reference: SNOMEDCT_US_2022_09_01:699301008
database_cross_reference: UMLS_CUI:C1838437
has_exact_synonym: VMCM
has_exact_synonym: mucocutaneous venous malformations
has_obo_namespace: disease_ontology
id: DOID:0050792

Axiom
annotated source: multiple cutaneous and mucosal venous malformations
annotated property: definition
annotated target: A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations
database_cross_reference: url:http://omim.org/entry/600195?search=600195&highlight=600195
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20301733

short QT syndrome
type: Class
subclass of: DOID_10273
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.
created_by: lschriml
creation_date: 2013-11-12T12:59:42Z
database_cross_reference: OMIM:609620
database_cross_reference: OMIM:609621
database_cross_reference: OMIM:609622
has_obo_namespace: disease_ontology
id: DOID:0050793

Axiom
annotated source: short QT syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
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

multiple synostoses syndrome
type: Class
subclass of: DOID 1934
definition: A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
created_by: lschriml
creation_date: 2013-11-12T01:08:42Z
database_cross_reference: OMIM:186500
database_cross_reference: OMIM:610017
database_cross_reference: OMIM:612961
has_obo_namespace: disease_ontology
id: DOID:0050794
in_subset: DO_rare_slim

Axiom
annotated source: multiple synostoses syndrome
annotated property: definition
annotated target: A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/3836/disease/resources/1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237

cone dystrophy
type: Class
subclass of: DOID 5679
definition: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
created_by: lschriml
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

Axiom
annotated source: cone dystrophy
annotated property: definition
annotated target: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007646
database_cross_reference: url:http://en.wikipedia.org/wiki/Cone_dystrophy
database_cross_reference: url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1418/

achalasia microcephaly syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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: DOID 1059
subclass of: Restriction
  on property: RO_0004029
  some values from: DOID_10907
subclass of: Restriction
  on property: RO_0004029
  some values from: DOID 9164
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).
created_by: lschriml
creation_date: 2013-11-20T03:01:06Z
database_cross_reference: GARD:456
database_cross_reference: MESH:C536010
database_cross_reference: OMIM:200450
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: achalasia microcephaly syndrome
annotated property: definition
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).
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/200450
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/456/disease/resources/1
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN

peroxisomal acyl-CoA oxidase deficiency
type: Class
subclass of: DOID 906
definition: A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
created_by: lschriml
creation_date: 2013-11-21T10:47:41Z
database_cross_reference: MESH:C536662
database_cross_reference: NCI:C170437
database_cross_reference: OMIM:264470
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: peroxisomal acyl-CoA oxidase deficiency
annotated property: definition
annotated target: A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
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

cerebral creatine deficiency syndrome
type: Class
subclass of: DOID 9252
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.
created_by: lschriml
creation_date: 2013-11-21T12:10:58Z
has_obo_namespace: disease_ontology
id: DOID:0050798

Axiom
annotated source: cerebral creatine deficiency syndrome
annotated property: definition
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.
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

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.
created_by: lschriml
creation_date: 2013-11-21T12:10:58Z
database_cross_reference: GARD:2578
database_cross_reference: MESH:C537622
database_cross_reference: OMIM:612736
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
has_exact_synonym: GAMT deficiency
has_obo_namespace: disease_ontology
id: DOID:0050799

Axiom
annotated source: guanidinoacetate methyltransferase deficiency
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency

creatine transporter deficiency
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.
created_by: lschriml
creation_date: 2013-11-21T12:10:58Z
database_cross_reference: OMIM:300352
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
has_exact_synonym: SLC6A8 deficiency
has_obo_namespace: disease_ontology
id: DOID:0050800

Axiom
annotated source: creatine transporter deficiency
annotated property: definition
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.
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

androgenic alopecia
type: Class
subclass of: DOID 987
definition: An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.
created_by: lschriml
creation_date: 2013-11-21T12:48:07Z
database_cross_reference: GARD:9269
database_cross_reference: OMIM:109200
database_cross_reference: OMIM:300710
database_cross_reference: OMIM:612421
has_exact_synonym: alopecia androgenetica, male pattern baldness
has_exact_synonym: androgenetic alopecia
has_obo_namespace: disease_ontology
id: DOID:0050801

Axiom
annotated source: androgenic alopecia
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/androgenetic-alopecia

Ehlers-Danlos syndrome spondylodysplastic type 2
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_13359
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.
created_by: lschriml
creation_date: 2013-12-02T11:55:24Z
database_cross_reference: OMIM:615349
database_cross_reference: ORDO:75496
database_cross_reference: SNOMEDCT_US_2022_09_01:720861000
database_cross_reference: UMLS_CUI:C1869122
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

Axiom
annotated source: Ehlers-Danlos syndrome spondylodysplastic type 2
annotated property: definition
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.
dc:type: ECO_0007640
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm

glioblastoma classical subtype
type: Class
subclass of: DOID 3068
definition: A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050803

Axiom
annotated source: glioblastoma classical subtype
annotated property: definition
annotated target: A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
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

glioblastoma proneural subtype
type: Class
subclass of: DOID 3068
definition: A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050804
in_subset: DO_cancer_slim

Axiom
annotated source: glioblastoma proneural subtype
annotated property: definition
annotated target: A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
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

glioblastoma mesenchymal subtype
type: Class
subclass of: DOID 3068
definition: A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050805

Axiom
annotated source: glioblastoma mesenchymal subtype
annotated property: definition
annotated target: A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
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

glioblastoma neural subtype
type: Class
subclass of: DOID 3068
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.
created_by: lschriml
creation_date: 2013-12-02T12:40:57Z
has_obo_namespace: disease_ontology
id: DOID:0050806

Axiom
annotated source: glioblastoma neural subtype
annotated property: definition
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.
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

Kahrizi syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2013-12-02T02:28:58Z
database_cross_reference: MESH:C567196
database_cross_reference: OMIM: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

Axiom
annotated source: Kahrizi syndrome
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972

mucopolysaccharidosis IX
type: Class
subclass of: DOID_12798
definition: A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
created_by: lschriml
creation_date: 2013-12-02T02:56:58Z
database_cross_reference: OMIM:601492
has_obo_namespace: disease_ontology
id: DOID:0050809

Axiom
annotated source: mucopolysaccharidosis IX
annotated property: definition
annotated target: A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII

biotin deficiency
type: Class
subclass of: DOID 5113
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.
created_by: lschriml
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
annotated source: biotin deficiency
annotated property: definition
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.
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/

congenital adrenal hyperplasia
type: Class
subclass of: DOID_0080015
subclass of: DOID 1701
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 androgeny manifestations resulting from steroidogenic enzyme deficiency.
created_by: lschriml
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: OMIM:201710
database_cross_reference: OMIM:201810
database_cross_reference: OMIM:201910
database_cross_reference: OMIM:202010
database_cross_reference: OMIM:202110
database_cross_reference: ORDO:418
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI.

Axiom
annotated source: congenital adrenal hyperplasia
annotated property: definition
annotated target: A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
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

spondyloepimetaphyseal dysplasia, Pakistani type
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080027
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.
created_by: lschriml
creation_date: 2013-12-04T01:24:55Z
database_cross_reference: MESH:C567551
database_cross_reference: OMIM:612847
has_exact_synonym: spondyloepimetaphyseal dysplasia Pakistani type
has_obo_namespace: disease_ontology
id: DOID:0050812

Axiom
annotated source: spondyloepimetaphyseal dysplasia, Pakistani type
annotated property: definition
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.
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

spondyloepiphyseal dysplasia with congenital joint dislocations
type: Class
subclass of: DOID_0080015
subclass of: DOID_0112280
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.
created_by: lschriml
creation_date: 2013-12-04T01:30:01Z
database_cross_reference: OMIM: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

Axiom
annotated source: spondyloepiphyseal dysplasia with congenital joint dislocations
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:http://www.uniprot.org/diseases/DI-01753

temtamy preaxial brachydactyly syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2013-12-05T12:12:10Z
database_cross_reference: GARD:9679
database_cross_reference: MESH:C536958
database_cross_reference: OMIM:605282
database_cross_reference: ORDO:363417
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: temtamy preaxial brachydactyly syndrome
annotated property: definition
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.
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

obsolete eye adnexa disease
type: Class
definition: An eye and adnexa disease that is located_in the adnexa of the eye.
created_by: lschriml
creation_date: 2013-12-05T12:55:42Z
has_obo_namespace: disease_ontology
id: DOID:0050815
owl:deprecated: true

Axiom
annotated source: obsolete eye adnexa disease
annotated property: definition
annotated target: An eye and adnexa disease that is located_in the adnexa of the eye.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Accessory_visual_structures

urofacial syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2013-12-05T01:10:52Z
database_cross_reference: GARD:2781
database_cross_reference: MESH:C536480
database_cross_reference: OMIM:236730
database_cross_reference: OMIM:615112
database_cross_reference: OMIM: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

Axiom
annotated source: urofacial syndrome
annotated property: definition
annotated target: A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
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

Stargardt disease
type: Class
subclass of: DOID_10871
definition: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
created_by: lschriml
creation_date: 2013-12-11T01:49:54Z
database_cross_reference: GARD:181
database_cross_reference: MESH:D000080362
database_cross_reference: OMIM:248200
database_cross_reference: OMIM:600110
database_cross_reference: OMIM:603786
has_exact_synonym: STARGARDT DISEASE 1
has_obo_namespace: disease_ontology
id: DOID:0050817

Axiom
annotated source: Stargardt disease
annotated property: definition
annotated target: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Stargardt_disease

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.
created_by: lschriml
creation_date: 2013-12-11T02:48:06Z
database_cross_reference: OMIM:275350
has_exact_synonym: TCN2 deficiency
has_obo_namespace: disease_ontology
id: DOID:0050818

Axiom
annotated source: transcobalamin II deficiency
annotated property: definition
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.
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

obsolete Matthew-Wood syndrome
type: Class
definition: A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
created_by: lschriml
creation_date: 2013-12-11T03:11:49Z
has_obo_namespace: disease_ontology
id: DOID:0050819
owl:deprecated: true

Axiom
annotated source: obsolete Matthew-Wood syndrome
annotated property: definition
annotated target: A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17236193

atrioventricular block
type: Class
subclass of: DOID_10273
definition: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
created_by: lschriml
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_2022_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
annotated source: atrioventricular block
annotated property: definition
annotated target: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrioventricular_block

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.
created_by: lschriml
creation_date: 2014-02-12T01:39:42Z
has_obo_namespace: disease_ontology
id: DOID:0050821

Axiom
annotated source: first-degree atrioventricular block
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/First-degree_atrioventricular_block

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.
created_by: lschriml
creation_date: 2014-02-12T01:39:42Z
has_exact_synonym: second-degree heart block
has_obo_namespace: disease_ontology
id: DOID:0050822

Axiom
annotated source: second-degree atrioventricular block
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block

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.
created_by: lschriml
creation_date: 2014-02-12T01:39:42Z
has_exact_synonym: complete AV block
has_obo_namespace: disease_ontology
id: DOID:0050823

Axiom
annotated source: third-degree atrioventricular block
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block

sinoatrial node disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002351
subclass of: DOID_0080000
subclass of: DOID_10273
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.
created_by: lschriml
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

Axiom
annotated source: sinoatrial node disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sinoatrial_node

endocardium disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002165
subclass of: DOID 114
definition: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
created_by: lschriml
creation_date: 2014-02-12T01:53:42Z
has_obo_namespace: disease_ontology
id: DOID:0050825

Axiom
annotated source: endocardium disease
annotated property: definition
annotated target: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Endocardium

tricuspid valve disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002134
subclass of: DOID 4079
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.
created_by: lschriml
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: SNOMEDCT_US_2022_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

Axiom
annotated source: tricuspid valve disease
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/

rheumatic heart disease
type: Class
subclass of: DOID 4079
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.
created_by: lschriml
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
annotated source: rheumatic heart disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Rheumatic_heart_disease

artery disease
type: Class
equivalent class: Class
  intersection of: DOID 178
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001637
subclass of: DOID 178
definition: A vascular disease that is located_in an artery.
created_by: lschriml
creation_date: 2014-02-12T03:08:35Z
has_obo_namespace: disease_ontology
id: DOID:0050828

Axiom
annotated source: artery disease
annotated property: definition
annotated target: A vascular disease that is located_in an artery.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Artery#Pathology

pericardium disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002407
subclass of: DOID 1287
definition: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
created_by: lschriml
creation_date: 2014-02-18T12:20:15Z
has_obo_namespace: disease_ontology
id: DOID:0050829

Axiom
annotated source: pericardium disease
annotated property: definition
annotated target: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pericardium

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.
created_by: lschriml
creation_date: 2014-02-18T12:41:09Z
database_cross_reference: MESH:D058729
has_obo_namespace: disease_ontology
id: DOID:0050830

Axiom
annotated source: peripheral artery disease
annotated property: definition
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.
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/

familial encephalopathy with neuroserpin inclusion bodies
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 1289
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.
created_by: lschriml
creation_date: 2014-02-24T10:14:57Z
database_cross_reference: GARD:10037
database_cross_reference: MESH:C536841
database_cross_reference: OMIM:604218
has_exact_synonym: FENIB
has_obo_namespace: disease_ontology
id: DOID:0050831
in_subset: DO_FlyBase_slim

Axiom
annotated source: familial encephalopathy with neuroserpin inclusion bodies
annotated property: definition
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.
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

pyrimidine metabolic disorder
type: Class
subclass of: DOID 655
definition: An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
created_by: lschriml
creation_date: 2014-02-24T10:29:22Z
has_obo_namespace: disease_ontology
id: DOID:0050832

Axiom
annotated source: pyrimidine metabolic disorder
annotated property: definition
annotated target: An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/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.
created_by: lschriml
creation_date: 2014-02-24T10:29:22Z
database_cross_reference: OMIM:258900
has_obo_namespace: disease_ontology
id: DOID:0050833

Axiom
annotated source: orotic aciduria
annotated property: definition
annotated target: A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
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

CHARGE syndrome
type: Class
subclass of: DOID 225
definition: A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
created_by: lschriml
creation_date: 2014-03-18T11:58:38Z
database_cross_reference: GARD:29
database_cross_reference: MESH:D058747
database_cross_reference: NCI:C75100
database_cross_reference: OMIM:214800
database_cross_reference: ORDO:138
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: CHARGE syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
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

generalized dystonia
type: Class
subclass of: DOID 543
definition: A dystonia that affects most or all of the body.
created_by: lschriml
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:333.6
database_cross_reference: ICD9CM:333.8
database_cross_reference: MESH:D004422
database_cross_reference: MESH:D020821
database_cross_reference: NCI:C34564
database_cross_reference: NCI:C35437
database_cross_reference: NCI:C35438
database_cross_reference: NCI:C35527
database_cross_reference: SNOMEDCT_US_2022_09_01:192852006
database_cross_reference: SNOMEDCT_US_2022_09_01:192859002
database_cross_reference: SNOMEDCT_US_2022_09_01:22451001
database_cross_reference: SNOMEDCT_US_2022_09_01:230321007
database_cross_reference: SNOMEDCT_US_2022_09_01:267584007
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
comment: MESH:C538001 added from NeuroDevNet [WAK].

Axiom
annotated source: generalized dystonia
annotated property: definition
annotated target: A dystonia that affects most or all of the body.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

Axiom
annotated source: generalized dystonia
annotated property: has_related_synonym
annotated target: Dystonia 12
database_cross_reference: MESH:C538001

focal dystonia
type: Class
equivalent class: Class
  intersection of: DOID 543
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001630
subclass of: DOID 543
definition: A dystonia that is localized to a specific part of the body.
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z
database_cross_reference: GARD:6458
has_obo_namespace: disease_ontology
id: DOID:0050836

Axiom
annotated source: focal dystonia
annotated property: definition
annotated target: A dystonia that is localized to a specific part of the body.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

multifocal dystonia
type: Class
subclass of: DOID 543
definition: A dystonia that involves two or more unrelated body parts.
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z
has_obo_namespace: disease_ontology
id: DOID:0050837

Axiom
annotated source: multifocal dystonia
annotated property: definition
annotated target: A dystonia that involves two or more unrelated body parts.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

segmental dystonia
type: Class
subclass of: DOID 543
definition: A dystonia that affects two or more adjacent parts of the body.
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z
has_obo_namespace: disease_ontology
id: DOID:0050838

Axiom
annotated source: segmental dystonia
annotated property: definition
annotated target: A dystonia that affects two or more adjacent parts of the body.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

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.
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z
has_obo_namespace: disease_ontology
id: DOID:0050839

Axiom
annotated source: anismus
annotated property: definition
annotated target: A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Anismus

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.
created_by: lschriml
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

Axiom
annotated source: cervical dystonia
annotated property: definition
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.
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/

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.
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z
has_alternative_id: DOID:13467
database_cross_reference: ICD9CM:333.84
database_cross_reference: SNOMEDCT_US_2022_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
annotated source: focal hand dystonia
annotated property: definition
annotated target: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dystonia

oculogyric crisis
type: Class
subclass of: focal dystonia
definition: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z
has_obo_namespace: disease_ontology
id: DOID:0050842

Axiom
annotated source: oculogyric crisis
annotated property: definition
annotated target: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Oculogyric_crisis

oromandibular dystonia
type: Class
subclass of: focal dystonia
definition: A focal dystonia that is characterized by distortions of the mouth and tongue.
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z
has_obo_namespace: disease_ontology
id: DOID:0050843

Axiom
annotated source: oromandibular dystonia
annotated property: definition
annotated target: A focal dystonia that is characterized by distortions of the mouth and tongue.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Oromandibular_dystonia

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.
created_by: lschriml
creation_date: 2014-03-18T01:30:33Z
has_exact_synonym: laryngeal dystonia
has_obo_namespace: disease_ontology
id: DOID:0050844

Axiom
annotated source: spasmodic dystonia
annotated property: definition
annotated target: A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
dc:type: ECO_0007637
database_cross_reference: url:http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx

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.
created_by: lschriml
creation_date: 2014-03-18T01:33:33Z
has_obo_namespace: disease_ontology
id: DOID:0050845

Axiom
annotated source: cranio-facial dystonia
annotated property: definition
annotated target: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

hemidystonia
type: Class
subclass of: multifocal dystonia
definition: A multifocal dystonia that involves the arm and leg on the same side of the body.
created_by: lschriml
creation_date: 2014-03-18T01:39:30Z
has_obo_namespace: disease_ontology
id: DOID:0050846

Axiom
annotated source: hemidystonia
annotated property: definition
annotated target: A multifocal dystonia that involves the arm and leg on the same side of the body.
dc:type: ECO_0007637
database_cross_reference: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

sleep apnea
type: Class
subclass of: DOID 535
definition: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
created_by: lschriml
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_2022_09_01:206750008
database_cross_reference: UMLS_CUI:C0037315
has_obo_namespace: disease_ontology
id: DOID:0050847
in_subset: NCIthesaurus

Axiom
annotated source: sleep apnea
annotated property: definition
annotated target: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
dc:type: ECO_0007637
dc:type: ECO_0007645
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/

obstructive sleep apnea
type: Class
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.
created_by: lschriml
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: NCI:C116337
database_cross_reference: OMIM:107650
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI.

Axiom
annotated source: obstructive sleep apnea
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007640
dc:type: ECO_0007646
database_cross_reference: url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286
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

periampullary adenoma
type: Class
subclass of: DOID_10022
subclass of: DOID 657
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.
created_by: lschriml
creation_date: 2014-04-15T03:26:13Z
has_obo_namespace: disease_ontology
id: DOID:0050849

Axiom
annotated source: periampullary adenoma
annotated property: definition
annotated target: An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/

diabetic encephalopathy
type: Class
subclass of: DOID 936
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.
created_by: lschriml
creation_date: 2014-04-15T03:33:49Z
has_obo_namespace: disease_ontology
id: DOID:0050850

Axiom
annotated source: diabetic encephalopathy
annotated property: definition
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.
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

glomerulosclerosis
type: Class
subclass of: DOID 2921
definition: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
created_by: lschriml
creation_date: 2014-04-15T03:40:31Z
has_obo_namespace: disease_ontology
id: DOID:0050851
in_subset: DO_RAD_slim

Axiom
annotated source: glomerulosclerosis
annotated property: definition
annotated target: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Glomerulosclerosis

limb ischemia
type: Class
subclass of: DOID 326
definition: An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.
created_by: lschriml
creation_date: 2014-04-15T03:46:27Z
has_obo_namespace: disease_ontology
id: DOID:0050852

Axiom
annotated source: limb ischemia
annotated property: definition
annotated target: An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Ischemia

chronic venous insufficiency
type: Class
subclass of: DOID_10128
definition: A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.
created_by: lschriml
creation_date: 2014-04-15T03:50:26Z
has_obo_namespace: disease_ontology
id: DOID:0050853

Axiom
annotated source: chronic venous insufficiency
annotated property: definition
annotated target: A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Chronic_venous_insufficiency

Muckle-Wells syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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 NLRP3 on chromosome 1q44.
created_by: lschriml
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: NCI:C119054
database_cross_reference: OMIM:191900
database_cross_reference: ORDO:575
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: Muckle-Wells syndrome
annotated property: definition
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 NLRP3 on chromosome 1q44.
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

renal fibrosis
type: Class
subclass of: DOID 557
definition: A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.
created_by: lschriml
creation_date: 2014-04-15T03:56:58Z
has_obo_namespace: disease_ontology
id: DOID:0050855

Axiom
annotated source: renal fibrosis
annotated property: definition
annotated target: A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/

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.
created_by: lschriml
creation_date: 2014-04-15T04:03:08Z
has_obo_namespace: disease_ontology
id: DOID:0050856

Axiom
annotated source: oppositional defiant disorder
annotated property: definition
annotated target: A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Oppositional_defiant_disorder

Perrault syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2014-04-24T01:56:35Z
database_cross_reference: GARD:2542
database_cross_reference: OMIM:233400
database_cross_reference: OMIM:614129
database_cross_reference: OMIM:614926
database_cross_reference: OMIM:615300
database_cross_reference: OMIM:PS233400
database_cross_reference: ORDO:2855
has_obo_namespace: disease_ontology
id: DOID:0050857

Axiom
annotated source: Perrault syndrome
annotated property: definition
annotated target: A syndrome that is characterized by sensorineural hearing loss and ovarian failure.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/LARS2
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23541340

Marshall-Smith syndrome
type: Class
subclass of: DOID 225
definition: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
created_by: lschriml
creation_date: 2014-04-24T02:06:30Z
database_cross_reference: GARD:6985
database_cross_reference: MESH:C536026
database_cross_reference: OMIM:602535
database_cross_reference: ORDO:561
has_obo_namespace: disease_ontology
id: DOID:0050858
in_subset: DO_rare_slim

Axiom
annotated source: Marshall-Smith syndrome
annotated property: definition
annotated target: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1

hemorrhagic cystitis
type: Class
subclass of: DOID 1679
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.
created_by: lschriml
creation_date: 2014-04-29T01:31:08Z
has_obo_namespace: disease_ontology
id: DOID:0050859

Axiom
annotated source: hemorrhagic cystitis
annotated property: definition
annotated target: A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Hemorrhagic_cystitis

colorectal adenoma
type: Class
subclass of: DOID 4610
subclass of: DOID 657
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.
created_by: lschriml
creation_date: 2014-05-05T03:14:49Z
has_obo_namespace: disease_ontology
id: DOID:0050860

Axiom
annotated source: colorectal adenoma
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Colorectal_adenoma

colorectal adenocarcinoma
type: Class
subclass of: DOID_0080199
subclass of: DOID 299
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.
created_by: lschriml
creation_date: 2014-05-05T03:16:55Z
database_cross_reference: NCI:C5105
database_cross_reference: SNOMEDCT_US_2022_09_01:408645001
database_cross_reference: UMLS_CUI:C1319315
has_obo_namespace: disease_ontology
id: DOID:0050861
in_subset: DO_cancer_slim

Axiom
annotated source: colorectal adenocarcinoma
annotated property: definition
annotated target: A colorectal carcinoma that derives_from epithelial cells of glandular origin.
dc:type: ECO_0007638
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma

pyometritis
type: Class
subclass of: DOID 345
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.
created_by: lschriml
creation_date: 2014-05-05T03:25:57Z
has_obo_namespace: disease_ontology
id: DOID:0050862

Axiom
annotated source: pyometritis
annotated property: definition
annotated target: A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16284801

arteritic anterior ischemic optic neuropathy
type: Class
subclass of: DOID_12010
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.
created_by: lschriml
creation_date: 2014-05-09T02:38:13Z
has_obo_namespace: disease_ontology
id: DOID:0050863

Axiom
annotated source: arteritic anterior ischemic optic neuropathy
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy

non-arteritic anterior ischemic optic neuropathy
type: Class
subclass of: DOID_12010
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.
created_by: lschriml
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
annotated source: non-arteritic anterior ischemic optic neuropathy
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/

tongue squamous cell carcinoma
type: Class
subclass of: DOID 5520
subclass of: DOID 8649
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.
created_by: lschriml
creation_date: 2014-05-12T02:38:44Z
database_cross_reference: NCI:C4648
database_cross_reference: SNOMEDCT_US_2022_09_01:276952000
database_cross_reference: UMLS_CUI:C0349566
has_obo_namespace: disease_ontology
id: DOID:0050865
in_subset: NCIthesaurus

Axiom
annotated source: tongue squamous cell carcinoma
annotated property: definition
annotated target: A head and neck squamous cell carcinoma that is located_in the tongue.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma

oral squamous cell carcinoma
type: Class
subclass of: DOID 1749
subclass of: DOID 8618
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.
created_by: lschriml
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

Axiom
annotated source: oral squamous cell carcinoma
annotated property: definition
annotated target: An oral cavity cancer that has_material_basis_in squamous cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma

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.
created_by: lschriml
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
annotated source: obsolete Jensen syndrome
annotated property: definition
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.
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

hepatocellular adenoma
type: Class
subclass of: DOID 657
subclass of: DOID 916
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_0001000
  some values from: Class
    intersection of: 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.
created_by: lschriml
creation_date: 2014-06-25T05:07:35Z
has_obo_namespace: disease_ontology
id: DOID:0050868

Axiom
annotated source: hepatocellular adenoma
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Hepatocellular_adenoma

villous adenoma
type: Class
subclass of: DOID 657
definition: An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body.
created_by: lschriml
creation_date: 2014-06-25T05:08:30Z
database_cross_reference: ICDO:8261/0
has_obo_namespace: disease_ontology
id: DOID:0050869

Axiom
annotated source: villous adenoma
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma

pulmonary adenocarcinoma in situ
type: Class
subclass of: DOID 8800
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.
created_by: lschriml
creation_date: 2014-06-25T05:10:52Z
has_exact_synonym: bronchioalveolar carcinoma
has_obo_namespace: disease_ontology
id: DOID:0050870

Axiom
annotated source: pulmonary adenocarcinoma in situ
annotated property: definition
annotated target: A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma

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.
created_by: lschriml
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

Axiom
annotated source: fibroma
annotated property: definition
annotated target: A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Fibroma

large cell neuroendocrine carcinoma
type: Class
subclass of: DOID 4556
definition: A lung large cell carcinoma that derives_from neuroendocrine cells.
created_by: lschriml
creation_date: 2014-06-25T05:17:11Z
database_cross_reference: ICDO:8013/3
has_obo_namespace: disease_ontology
id: DOID:0050872

Axiom
annotated source: large cell neuroendocrine carcinoma
annotated property: definition
annotated target: A lung large cell carcinoma that derives_from neuroendocrine cells.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15999058

follicular lymphoma
type: Class
subclass of: DOID 707
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).
created_by: lschriml
creation_date: 2014-06-25T05:24:10Z
database_cross_reference: GARD:2356
database_cross_reference: ICDO:9690/3
database_cross_reference: MESH:D008224
database_cross_reference: OMIM:151430
has_obo_namespace: disease_ontology
id: DOID:0050873
in_subset: DO_cancer_slim

Axiom
annotated source: follicular lymphoma
annotated property: definition
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).
dc:type: ECO_0007637
dc:type: ECO_0007638
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

obsolete small cell neuroendocrine carcinoma of the lung
type: Class
created_by: lschriml
creation_date: 2014-06-25T05:31:24Z
has_obo_namespace: disease_ontology
id: DOID:0050875
owl:deprecated: true

Caroli disease
type: Class
subclass of: DOID 4138
definition: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
created_by: lschriml
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_2022_09_01:717232005
database_cross_reference: UMLS_CUI:C0162510
has_obo_namespace: disease_ontology
id: DOID:0050876
in_subset: NCIthesaurus

Axiom
annotated source: Caroli disease
annotated property: definition
annotated target: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
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

pancreatic agenesis
type: Class
subclass of: DOID 26
subclass of: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001264
definition: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
created_by: lschriml
creation_date: 2014-07-09T03:35:41Z
database_cross_reference: OMIM:260370
has_exact_synonym: partial pancreatic agenesis
has_obo_namespace: disease_ontology
id: DOID:0050877
in_subset: DO_rare_slim

Axiom
annotated source: pancreatic agenesis
annotated property: definition
annotated target: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805

obsolete CLONE OF congenital afibrinogenemia
type: Class
created_by: lschriml
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
comment: OMIM mapping confirmed by DO. [SN].
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.
created_by: lschriml
creation_date: 2014-08-04T01:52:12Z
database_cross_reference: OMIM:300623
has_exact_synonym: FXTAS syndrome
has_obo_namespace: disease_ontology
id: DOID:0050879
in_subset: DO_FlyBase_slim

Axiom
annotated source: fragile X-associated tremor/ataxia syndrome
annotated property: definition
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.
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

Koolen de Vries syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2014-08-06T12:57:12Z
has_alternative_id: DOID:0070076
database_cross_reference: GARD:10727
database_cross_reference: OMIM: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
annotated source: Koolen de Vries syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007646
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

inclusion body myopathy with Paget disease of bone and frontotemporal dementia
type: Class
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2014-08-06T02:30:16Z
database_cross_reference: MESH:C563476
database_cross_reference: OMIM: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

Axiom
annotated source: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
annotated property: definition
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.
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

spinocerebellar ataxia type 5
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2014-08-06T03:51:03Z
database_cross_reference: GARD:4953
database_cross_reference: OMIM:600224
has_obo_namespace: disease_ontology
id: DOID:0050882
in_subset: DO_FlyBase_slim

Axiom
annotated source: spinocerebellar ataxia type 5
annotated property: definition
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.
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

infantile cerebellar-retinal degeneration
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 1289
subclass of: Class
  intersection of: DOID 4
  intersection 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.
created_by: lschriml
creation_date: 2014-08-06T04:09:42Z
database_cross_reference: GARD:13264
database_cross_reference: OMIM:614559
has_obo_namespace: disease_ontology
id: DOID:0050883
in_subset: DO_FlyBase_slim

Axiom
annotated source: infantile cerebellar-retinal degeneration
annotated property: definition
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.
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

triosephosphate isomerase deficiency
type: Class
subclass of: DOID 4194
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.
created_by: lschriml
creation_date: 2014-08-07T11:44:31Z
database_cross_reference: GARD:5287
database_cross_reference: MESH:C566029
database_cross_reference: OMIM:615512
has_exact_synonym: Triose phosphate-isomerase deficiency
has_obo_namespace: disease_ontology
id: DOID:0050884
in_subset: DO_FlyBase_slim

Axiom
annotated source: triosephosphate isomerase deficiency
annotated property: definition
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.
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

IMAGe syndrome
type: Class
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2014-08-07T12:04:30Z
database_cross_reference: GARD:12312
database_cross_reference: OMIM: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

Axiom
annotated source: IMAGe syndrome
annotated property: definition
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.
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

Troyer syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2476
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.
created_by: lschriml
creation_date: 2014-08-07T12:18:56Z
database_cross_reference: GARD:5372
database_cross_reference: ICD10CM:G11.4
database_cross_reference: OMIM: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

Axiom
annotated source: Troyer syndrome
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
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

Townes-Brocks syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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.
created_by: lschriml
creation_date: 2014-08-11T03:58:35Z
database_cross_reference: GARD:7784
database_cross_reference: MESH:C536974
database_cross_reference: OMIM:107480
has_obo_namespace: disease_ontology
id: DOID:0050887
in_subset: DO_FlyBase_slim

Axiom
annotated source: Townes-Brocks syndrome
annotated property: definition
annotated target: A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
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

syndromic intellectual disability
type: Class
subclass of: DOID 1059
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.
created_by: lschriml
creation_date: 2014-08-14T10:55:32Z
has_obo_namespace: disease_ontology
id: DOID:0050888
in_subset: DO_FlyBase_slim

Axiom
annotated source: syndromic intellectual disability
annotated property: definition
annotated target: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Intellectual_disability

non-syndromic intellectual disability
type: Class
subclass of: DOID 1059
definition: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
created_by: lschriml
creation_date: 2014-08-14T10:57:36Z
has_obo_namespace: disease_ontology
id: DOID:0050889

Axiom
annotated source: non-syndromic intellectual disability
annotated property: definition
annotated target: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
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/

synucleinopathy
type: Class
subclass of: DOID 1289
definition: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
created_by: lschriml
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
annotated source: synucleinopathy
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Synucleinopathies

adrenal cortical adenoma
type: Class
subclass of: DOID 656
definition: An adrenal adenoma that is a benign tumor of the adrenal cortex.
created_by: lschriml
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

Axiom
annotated source: adrenal cortical adenoma
annotated property: definition
annotated target: An adrenal adenoma that is a benign tumor of the adrenal cortex.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma

adrenal gland pheochromocytoma
type: Class
subclass of: DOID_0080347
definition: A malignant pheochromocytoma that is characterized by overproduction of adrenaline.
created_by: lschriml
creation_date: 2014-09-11T01:01:57Z
has_obo_namespace: disease_ontology
id: DOID:0050892
in_subset: DO_cancer_slim

Axiom
annotated source: adrenal gland pheochromocytoma
annotated property: definition
annotated target: A malignant pheochromocytoma that is characterized by overproduction of adrenaline.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

gallbladder adenoma
type: Class
subclass of: DOID_0080640
subclass of: DOID 657
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_0001000
  some values from: Class
    intersection of: 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.
created_by: lschriml
creation_date: 2014-09-11T01:53:07Z
has_obo_namespace: disease_ontology
id: DOID:0050893

Axiom
annotated source: gallbladder adenoma
annotated property: definition
annotated target: A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma

ameloblastoma
type: Class
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
subclass of: cell type benign neoplasm
definition: A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
created_by: lschriml
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

Axiom
annotated source: ameloblastoma
annotated property: definition
annotated target: A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ameloblastoma

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.
created_by: lschriml
creation_date: 2014-09-11T02:46:51Z
has_obo_namespace: disease_ontology
id: DOID:0050895

Axiom
annotated source: bone ameloblastoma
annotated property: definition
annotated target: A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ameloblastoma

bone squamous cell carcinoma
type: Class
subclass of: DOID 1749
subclass of: DOID 2762
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.
created_by: lschriml
creation_date: 2014-09-11T02:50:46Z
has_obo_namespace: disease_ontology
id: DOID:0050896
in_subset: DO_cancer_slim

Axiom
annotated source: bone squamous cell carcinoma
annotated property: definition
annotated target: A bone carcinoma that derives_from squamous epithelial cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma

bone chondrosarcoma
type: Class
subclass of: DOID 3371
definition: A chondrosarcoma that is located_in bone.
created_by: lschriml
creation_date: 2014-09-11T02:55:07Z
has_obo_namespace: disease_ontology
id: DOID:0050897
in_subset: DO_cancer_slim

Axiom
annotated source: bone chondrosarcoma
annotated property: definition
annotated target: A chondrosarcoma that is located_in bone.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chondrosarcoma

phalanx chondroma
type: Class
subclass of: bone benign neoplasm
subclass of: DOID 2602
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.
created_by: lschriml
creation_date: 2014-09-11T03:42:42Z
has_obo_namespace: disease_ontology
id: DOID:0050898

Axiom
annotated source: phalanx chondroma
annotated property: definition
annotated target: A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Chondroma

brain stem medulloblastoma
type: Class
equivalent class: Class
  intersection of: medulloblastoma
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002298
subclass of: medulloblastoma
subclass of: DOID 4203
definition: A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
created_by: lschriml
creation_date: 2014-10-06T14:23:29Z
has_obo_namespace: disease_ontology
id: DOID:0050899
in_subset: DO_cancer_slim

Axiom
annotated source: brain stem medulloblastoma
annotated property: definition
annotated target: A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma

sacrum chordoma
type: Class
subclass of: DOID 4153
definition: A spinal chordoma that is located_in the sacrum.
created_by: lschriml
creation_date: 2014-10-06T14:25:16Z
has_obo_namespace: disease_ontology
id: DOID:0050900
in_subset: DO_cancer_slim

Axiom
annotated source: sacrum chordoma
annotated property: definition
annotated target: A spinal chordoma that is located_in the sacrum.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

corpus callosum oligodendroglioma
type: Class
subclass of: DOID 3181
subclass of: DOID 3187
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.
created_by: lschriml
creation_date: 2014-10-06T14:26:18Z
has_obo_namespace: disease_ontology
id: DOID:0050901
in_subset: DO_cancer_slim

Axiom
annotated source: corpus callosum oligodendroglioma
annotated property: definition
annotated target: A brain oligodendroglioma located_in the corpus callosum.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

medulloblastoma
type: Class
subclass of: DOID 4706
definition: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
created_by: lschriml
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: NCI:C27294
database_cross_reference: NCI:C3222
database_cross_reference: NCI:C3716
database_cross_reference: OMIM:155255
database_cross_reference: ORDO:616
database_cross_reference: SNOMEDCT_US_2022_09_01:189925001
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: medulloblastoma
annotated property: definition
annotated target: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
dc:type: ECO_0007637
dc:type: ECO_0007638
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/

parietal lobe ependymoma
type: Class
subclass of: DOID_14384
definition: A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
created_by: lschriml
creation_date: 2014-10-08T16:00:54Z
has_obo_namespace: disease_ontology
id: DOID:0050903
in_subset: DO_cancer_slim

Axiom
annotated source: parietal lobe ependymoma
annotated property: definition
annotated target: A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46432

salivary gland carcinoma
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001044
subclass of: DOID 305
subclass of: DOID 8850
definition: A salivary gland cancer that has_material_basis_in epithelial cells.
created_by: lschriml
creation_date: 2014-10-08T16:52:58Z
has_obo_namespace: disease_ontology
id: DOID:0050904
in_subset: DO_cancer_slim

Axiom
annotated source: salivary gland carcinoma
annotated property: definition
annotated target: A salivary gland cancer that has_material_basis_in epithelial cells.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

inflammatory myofibroblastic tumor
type: Class
subclass of: DOID 3350
definition: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
created_by: lschriml
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

Axiom
annotated source: inflammatory myofibroblastic tumor
annotated property: definition
annotated target: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
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

conjunctival nevus
type: Class
subclass of: sensory organ benign neoplasm
subclass of: DOID 4251
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.
created_by: lschriml
creation_date: 2014-10-13T11:47:25Z
has_obo_namespace: disease_ontology
id: DOID:0050906

Axiom
annotated source: conjunctival nevus
annotated property: definition
annotated target: A sensory organ benign neoplasm that is located in the eye conjunctiva.
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

mixed extragonadal germ cell cancer
type: Class
subclass of: DOID 3306
definition: A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
created_by: lschriml
creation_date: 2014-10-13T12:37:37Z
has_obo_namespace: disease_ontology
id: DOID:0050907
in_subset: DO_cancer_slim

Axiom
annotated source: mixed extragonadal germ cell cancer
annotated property: definition
annotated target: A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

myelodysplastic syndrome
type: Class
subclass of: DOID 4960
definition: A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
created_by: lschriml
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: OMIM:614286
database_cross_reference: UMLS_CUI:C2713368
has_obo_namespace: disease_ontology
id: DOID:0050908
in_subset: DO_cancer_slim

Axiom
annotated source: myelodysplastic syndrome
annotated property: definition
annotated target: A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
type: Class
subclass of: marginal zone B-cell lymphoma
definition: A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
created_by: lschriml
creation_date: 2014-10-13T14:17:40Z
database_cross_reference: ICDO:9699/3
database_cross_reference: NCI:C3898
database_cross_reference: OMIM:137245
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

Axiom
annotated source: extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
annotated property: definition
annotated target: A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
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

cecum adenoma
type: Class
subclass of: DOID 1517
subclass of: DOID 657
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_0001000
  some values from: Class
    intersection of: 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.
created_by: lschriml
creation_date: 2014-10-13T14:41:01Z
has_exact_synonym: caecum adenoma
has_obo_namespace: disease_ontology
id: DOID:0050910

Axiom
annotated source: cecum adenoma
annotated property: definition
annotated target: A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma

appendix carcinoid tumor
type: Class
subclass of: DOID_11239
definition: An appendix cancer that has_material_basis_in neurodendocrine cells.
created_by: lschriml
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

Axiom
annotated source: appendix carcinoid tumor
annotated property: definition
annotated target: An appendix cancer that has_material_basis_in neurodendocrine cells.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

colon adenoma
type: Class
subclass of: DOID 235
subclass of: DOID 657
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.
created_by: lschriml
creation_date: 2014-10-13T14:56:27Z
has_obo_namespace: disease_ontology
id: DOID:0050912

Axiom
annotated source: colon adenoma
annotated property: definition
annotated target: A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

large intestine adenocarcinoma
type: Class
subclass of: DOID 299
subclass of: DOID 5672
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.
created_by: lschriml
creation_date: 2014-10-13T15:00:10Z
has_obo_namespace: disease_ontology
id: DOID:0050913
in_subset: DO_cancer_slim

Axiom
annotated source: large intestine adenocarcinoma
annotated property: definition
annotated target: A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46216

large intestine adenoma
type: Class
subclass of: DOID 4610
subclass of: DOID 657
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_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_0000059
definition: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
created_by: lschriml
creation_date: 2014-10-13T15:07:10Z
has_obo_namespace: disease_ontology
id: DOID:0050914

Axiom
annotated source: large intestine adenoma
annotated property: definition
annotated target: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma

rectum adenoma
type: Class
subclass of: DOID 1984
subclass of: DOID 657
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_0001000
  some values from: Class
    intersection of: CL_0000066
    intersection of: Restriction
      on property: has origin
      some values from: UBERON_0002530
definition: An rectal neoplasm that has_material_basis_in epithelial tissue with glandular origin.
created_by: lschriml
creation_date: 2014-10-13T15:09:51Z
has_obo_namespace: disease_ontology
id: DOID:0050915

Axiom
annotated source: rectum adenoma
annotated property: definition
annotated target: An rectal neoplasm that has_material_basis_in epithelial tissue with glandular origin.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma

bronchus mucoepidermoid carcinoma
type: Class
subclass of: DOID 4531
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002185
definition: A mucoepidermoid carcinoma located_in the bronchus.
created_by: lschriml
creation_date: 2014-10-13T15:13:54Z
has_obo_namespace: disease_ontology
id: DOID:0050916
in_subset: DO_cancer_slim

Axiom
annotated source: bronchus mucoepidermoid carcinoma
annotated property: definition
annotated target: A mucoepidermoid carcinoma located_in the bronchus.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma

lung combined type small cell adenocarcinoma
type: Class
subclass of: DOID 299
subclass of: DOID 5421
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.
created_by: lschriml
creation_date: 2014-10-13T15:36:11Z
has_obo_namespace: disease_ontology
id: DOID:0050917
in_subset: DO_cancer_slim

Axiom
annotated source: lung combined type small cell adenocarcinoma
annotated property: definition
annotated target: A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007641
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
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=46216

vaginal carcinoma
type: Class
subclass of: DOID 119
subclass of: DOID 305
subclass of: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
definition: A vaginal cancer that has_material_basis_in epithelial cells.
created_by: lschriml
creation_date: 2014-10-21T11:37:19Z
has_obo_namespace: disease_ontology
id: DOID:0050918
in_subset: DO_cancer_slim

Axiom
annotated source: vaginal carcinoma
annotated property: definition
annotated target: A vaginal cancer that has_material_basis_in epithelial cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoma

trachea mucoepidermoid carcinoma
type: Class
subclass of: DOID_11920
subclass of: DOID 4531
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0003126
definition: A mucoepidermoid carcinoma located_in the trachea.
created_by: lschriml
creation_date: 2014-10-21T11:42:42Z
has_obo_namespace: disease_ontology
id: DOID:0050919
in_subset: DO_cancer_slim

Axiom
annotated source: trachea mucoepidermoid carcinoma
annotated property: definition
annotated target: A mucoepidermoid carcinoma located_in the trachea.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma

tonsil squamous cell carcinoma
type: Class
subclass of: DOID 1749
subclass of: DOID 8858
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.
created_by: lschriml
creation_date: 2014-10-21T11:48:00Z
has_obo_namespace: disease_ontology
id: DOID:0050920
in_subset: DO_cancer_slim

Axiom
annotated source: tonsil squamous cell carcinoma
annotated property: definition
annotated target: A tonsil cancer that has_material_basis_in squamous cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma

pharynx squamous cell carcinoma
type: Class
subclass of: pharynx cancer
subclass of: DOID 1749
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.
created_by: lschriml
creation_date: 2014-10-21T11:54:00Z
has_obo_namespace: disease_ontology
id: DOID:0050921
in_subset: DO_cancer_slim

Axiom
annotated source: pharynx squamous cell carcinoma
annotated property: definition
annotated target: A pharynx cancer that has_material_basis_in squamous cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma

gastrointestinal carcinoma
type: Class
subclass of: DOID 305
subclass of: DOID 3119
subclass of: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000066
definition: A gastrointestinal system cancer that has_material_basis_in epithelial cells.
created_by: lschriml
creation_date: 2014-10-21T11:56:36Z
has_obo_namespace: disease_ontology
id: DOID:0050922
in_subset: DO_cancer_slim

Axiom
annotated source: gastrointestinal carcinoma
annotated property: definition
annotated target: A gastrointestinal system cancer that has_material_basis_in epithelial cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoma

spindle epithelial tumor with thymus-like differentiation tumor
type: Class
subclass of: DOID 3963
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.
created_by: lschriml
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

Axiom
annotated source: spindle epithelial tumor with thymus-like differentiation tumor
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007645
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

striated muscle rhabdoid tumor
type: Class
subclass of: DOID 4045
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.
created_by: lschriml
creation_date: 2014-10-21T12:38:23Z
has_obo_namespace: disease_ontology
id: DOID:0050924
in_subset: DO_cancer_slim

Axiom
annotated source: striated muscle rhabdoid tumor
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

small intestine carcinoid neuroendocrine tumor
type: Class
subclass of: DOID_10154
definition: A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
created_by: lschriml
creation_date: 2014-10-21T12:58:08Z
has_broad_synonym: intestinal carcinoid tumour
database_cross_reference: OMIM:114900
has_obo_namespace: disease_ontology
id: DOID:0050925
in_subset: DO_cancer_slim

Axiom
annotated source: small intestine carcinoid neuroendocrine tumor
annotated property: definition
annotated target: A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carcinoid

jejunal adenocarcinoma
type: Class
subclass of: DOID_13499
subclass of: DOID 299
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.
created_by: lschriml
creation_date: 2014-10-21T13:00:15Z
has_obo_namespace: disease_ontology
id: DOID:0050926
in_subset: DO_cancer_slim

Axiom
annotated source: jejunal adenocarcinoma
annotated property: definition
annotated target: A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenocarcinoma

duodenum adenoma
type: Class
subclass of: DOID 1737
subclass of: DOID 657
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.
created_by: lschriml
creation_date: 2014-10-21T13:02:15Z
has_obo_namespace: disease_ontology
id: DOID:0050927

Axiom
annotated source: duodenum adenoma
annotated property: definition
annotated target: A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoma

ovarian melanoma
type: Class
subclass of: DOID 2394
definition: An ovarian cancer that has_material_basis_in melanoctyes.
created_by: lschriml
creation_date: 2014-10-21T13:27:44Z
has_obo_namespace: disease_ontology
id: DOID:0050928
in_subset: DO_cancer_slim

Axiom
annotated source: ovarian melanoma
annotated property: definition
annotated target: An ovarian cancer that has_material_basis_in melanoctyes.
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

mucosal melanoma
type: Class
subclass of: DOID 1909
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.
created_by: lschriml
creation_date: 2014-10-21T13:51:49Z
has_obo_namespace: disease_ontology
id: DOID:0050929
in_subset: DO_cancer_slim

Axiom
annotated source: mucosal melanoma
annotated property: definition
annotated target: A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic

sublingual gland adenoid cystic carcinoma
type: Class
subclass of: DOID 8849
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.
created_by: lschriml
creation_date: 2014-10-21T14:04:40Z
has_obo_namespace: disease_ontology
id: DOID:0050930
in_subset: DO_cancer_slim

Axiom
annotated source: sublingual gland adenoid cystic carcinoma
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma

parotid gland adenoid cystic carcinoma
type: Class
subclass of: DOID 9036
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.
created_by: lschriml
creation_date: 2014-10-21T14:09:29Z
has_obo_namespace: disease_ontology
id: DOID:0050931
in_subset: DO_cancer_slim

Axiom
annotated source: parotid gland adenoid cystic carcinoma
annotated property: definition
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.
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

lung mucoepidermoid carcinoma
type: Class
subclass of: DOID 3905
definition: A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells.
created_by: lschriml
creation_date: 2014-10-21T15:13:36Z
has_obo_namespace: disease_ontology
id: DOID:0050932
in_subset: DO_cancer_slim

Axiom
annotated source: lung mucoepidermoid carcinoma
annotated property: definition
annotated target: A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma

ovarian serous carcinoma
type: Class
subclass of: DOID 4001
definition: An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
created_by: lschriml
creation_date: 2014-10-21T15:51:41Z
has_obo_namespace: disease_ontology
id: DOID:0050933
in_subset: DO_cancer_slim

Axiom
annotated source: ovarian serous carcinoma
annotated property: definition
annotated target: An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Serous_carcinoma

ovarian clear cell carcinoma
type: Class
subclass of: DOID 4001
definition: An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
created_by: lschriml
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
annotated source: ovarian clear cell carcinoma
annotated property: definition
annotated target: An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma

cervical neuroblastoma
type: Class
subclass of: DOID 371
definition: An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
created_by: lschriml
creation_date: 2014-10-21T16:02:01Z
has_obo_namespace: disease_ontology
id: DOID:0050935
in_subset: DO_cancer_slim

Axiom
annotated source: cervical neuroblastoma
annotated property: definition
annotated target: An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
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

extra-adrenal pheochromocytoma
type: Class
subclass of: DOID_0080347
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.
created_by: lschriml
creation_date: 2014-10-22T10:25:45Z
has_obo_namespace: disease_ontology
id: DOID:0050936
in_subset: DO_cancer_slim

Axiom
annotated source: extra-adrenal pheochromocytoma
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pheochromocytoma

retroperitoneal neuroblastoma
type: Class
subclass of: DOID 5875
definition: A retroperitoneal cancer that has_material_basis_in immature nerve cells.
created_by: lschriml
creation_date: 2014-10-22T11:18:01Z
has_obo_namespace: disease_ontology
id: DOID:0050937
in_subset: DO_cancer_slim

Axiom
annotated source: retroperitoneal neuroblastoma
annotated property: definition
annotated target: A retroperitoneal cancer that has_material_basis_in immature nerve cells.
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

breast lobular carcinoma
type: Class
subclass of: DOID 3459
definition: A breast carcinoma that derives_from breast lobules (milk glands).
created_by: lschriml
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

Axiom
annotated source: breast lobular carcinoma
annotated property: definition
annotated target: A breast carcinoma that derives_from breast lobules (milk glands).
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

uterine corpus endometrial carcinoma
type: Class
subclass of: DOID 9460
definition: A uterine corpus cancer that is derives_from the inner lining of the uterus.
created_by: lschriml
creation_date: 2014-10-22T14:26:22Z
has_obo_namespace: disease_ontology
id: DOID:0050939
in_subset: DO_cancer_slim

Axiom
annotated source: uterine corpus endometrial carcinoma
annotated property: definition
annotated target: A uterine corpus cancer that is derives_from the inner lining of the uterus.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/

endocervical adenocarcinoma
type: Class
subclass of: DOID 299
subclass of: DOID 7519
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.
created_by: lschriml
creation_date: 2014-10-24T15:51:48Z
has_obo_namespace: disease_ontology
id: DOID:0050940
in_subset: DO_cancer_slim

Axiom
annotated source: endocervical adenocarcinoma
annotated property: definition
annotated target: An endocervical carcinoma that derives_from epithelial cells of glandular origin.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12207781

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.
created_by: lschriml
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: OMIM:611302
has_obo_namespace: disease_ontology
id: DOID:0050941

Axiom
annotated source: spastic ataxia 2
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17273843

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.
created_by: lschriml
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: OMIM:611390
has_obo_namespace: disease_ontology
id: DOID:0050942

Axiom
annotated source: spastic ataxia 3
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22448145
database_cross_reference: url:https://www.omim.org/entry/611390

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.
created_by: lschriml
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: OMIM:613672
has_obo_namespace: disease_ontology
id: DOID:0050943

Axiom
annotated source: spastic ataxia 4
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20970105
database_cross_reference: url:https://www.omim.org/entry/613672

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.
created_by: lschriml
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: OMIM:614487
has_obo_namespace: disease_ontology
id: DOID:0050944

Axiom
annotated source: spastic ataxia 5
annotated property: definition
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.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22022284
database_cross_reference: url:https://www.omim.org/entry/614487

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.
created_by: lschriml
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: OMIM:108650
has_obo_namespace: disease_ontology
id: DOID:0050945

Axiom
annotated source: spastic ataxia 7
annotated property: definition
annotated target: A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6821680
database_cross_reference: url:https://www.omim.org/entry/108650

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.
created_by: lschriml
creation_date: 2015-09-18T14:13:49Z
database_cross_reference: GARD:4910
database_cross_reference: MESH:C536787
database_cross_reference: OMIM:270550
has_obo_namespace: disease_ontology
id: DOID:0050946

Axiom
annotated source: Charlevoix-Saguenay spastic ataxia
annotated property: definition
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.
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

hereditary hypophosphatemic rickets with hypercalciuria
type: Class
subclass of: DOID_0080578
subclass of: DOID_10609
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.
created_by: lschriml
creation_date: 2015-10-01T12:10:26Z
database_cross_reference: OMIM:241530
has_obo_namespace: disease_ontology
id: DOID:0050947

Axiom
annotated source: hereditary hypophosphatemic rickets with hypercalciuria
annotated property: definition
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.
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

autosomal dominant hypophosphatemic rickets
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_10609
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.
created_by: lschriml
creation_date: 2015-10-01T12:10:30Z
database_cross_reference: OMIM:193100
has_obo_namespace: disease_ontology
id: DOID:0050948

Axiom
annotated source: autosomal dominant hypophosphatemic rickets
annotated property: definition
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.
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

autosomal recessive hypophosphatemic rickets
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_10609
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.
created_by: lschriml
creation_date: 2015-10-01T12:10:33Z
database_cross_reference: OMIM:241520
database_cross_reference: OMIM:613312
database_cross_reference: ORDO:289176
has_obo_namespace: disease_ontology
id: DOID:0050949

Axiom
annotated source: autosomal recessive hypophosphatemic rickets
annotated property: definition
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.
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

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.
created_by: lschriml
creation_date: 2015-10-05T14:21:08Z
database_cross_reference: OMIM:PS213200
database_cross_reference: ORDO:1172
has_obo_namespace: disease_ontology
id: DOID:0050950

Axiom
annotated source: autosomal recessive cerebellar ataxia
annotated property: definition
annotated target: A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138/

hereditary ataxia
type: Class
subclass of: DOID 1289
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.
created_by: lschriml
creation_date: 2015-10-05T14:38:17Z
database_cross_reference: GARD:6614
has_obo_namespace: disease_ontology
id: DOID:0050951

Axiom
annotated source: hereditary ataxia
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138

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.
created_by: lschriml
creation_date: 2015-10-05T14:39:34Z
database_cross_reference: MESH:C564815
has_obo_namespace: disease_ontology
id: DOID:0050952

Axiom
annotated source: spastic ataxia
annotated property: definition
annotated target: A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
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

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.
created_by: lschriml
creation_date: 2015-10-05T15:41:09Z
has_obo_namespace: disease_ontology
id: DOID:0050953

Axiom
annotated source: X-linked hereditary ataxia
annotated property: definition
annotated target: A hereditary ataxia that is characterized by X-linked inheritance.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/

spinocerebellar ataxia type 1
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: GARD:4071
database_cross_reference: OMIM:164400
has_obo_namespace: disease_ontology
id: DOID:0050954

Axiom
annotated source: spinocerebellar ataxia type 1
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1

spinocerebellar ataxia type 2
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: OMIM:183090
has_obo_namespace: disease_ontology
id: DOID:0050955

Axiom
annotated source: spinocerebellar ataxia type 2
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2

spinocerebellar ataxia type 6
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.
created_by: lschriml
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: GARD:10351
database_cross_reference: OMIM:183086
has_obo_namespace: disease_ontology
id: DOID:0050956

Axiom
annotated source: spinocerebellar ataxia type 6
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6

spinocerebellar ataxia type 4
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene.
created_by: lschriml
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: GARD:9970
database_cross_reference: MESH:D020754
database_cross_reference: OMIM:600223
database_cross_reference: ORDO:98765
database_cross_reference: SNOMEDCT_US_2022_09_01:715755008
database_cross_reference: UMLS_CUI:C0752122
has_obo_namespace: disease_ontology
id: DOID:0050957

Axiom
annotated source: spinocerebellar ataxia type 4
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4

spinocerebellar ataxia type 7
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:07:27Z
database_cross_reference: OMIM:164500
has_obo_namespace: disease_ontology
id: DOID:0050958

Axiom
annotated source: spinocerebellar ataxia type 7
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7

spinocerebellar ataxia type 8
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: OMIM:608768
has_obo_namespace: disease_ontology
id: DOID:0050959

Axiom
annotated source: spinocerebellar ataxia type 8
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8

spinocerebellar ataxia type 10
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: GARD:10474
database_cross_reference: OMIM:603516
has_obo_namespace: disease_ontology
id: DOID:0050960

Axiom
annotated source: spinocerebellar ataxia type 10
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1175/

spinocerebellar ataxia type 11
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: OMIM:604432
has_obo_namespace: disease_ontology
id: DOID:0050961

Axiom
annotated source: spinocerebellar ataxia type 11
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11

spinocerebellar ataxia type 12
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: OMIM:604326
has_obo_namespace: disease_ontology
id: DOID:0050962

Axiom
annotated source: spinocerebellar ataxia type 12
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12

spinocerebellar ataxia type 13
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: OMIM:605259
has_obo_namespace: disease_ontology
id: DOID:0050963

Axiom
annotated source: spinocerebellar ataxia type 13
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13

spinocerebellar ataxia type 14
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: OMIM:605361
has_obo_namespace: disease_ontology
id: DOID:0050964

Axiom
annotated source: spinocerebellar ataxia type 14
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14

spinocerebellar ataxia type 15
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
has_alternative_id: DOID:0050966
database_cross_reference: OMIM:606658
has_exact_synonym: spinocerebellar ataxia type 16
has_obo_namespace: disease_ontology
id: DOID:0050965

Axiom
annotated source: spinocerebellar ataxia type 15
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15

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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
has_obo_namespace: disease_ontology
id: DOID:0050966
owl:deprecated: true

Axiom
annotated source: obsolete spinocerebellar ataxia type 16
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615768

spinocerebellar ataxia type 17
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: GARD:10469
database_cross_reference: OMIM:607136
has_obo_namespace: disease_ontology
id: DOID:0050967

Axiom
annotated source: spinocerebellar ataxia type 17
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17

autosomal dominant cerebellar ataxia, deafness and narcolepsy
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-05T16:12:39Z
database_cross_reference: GARD:12372
database_cross_reference: OMIM:604121
has_obo_namespace: disease_ontology
id: DOID:0050968

Axiom
annotated source: autosomal dominant cerebellar ataxia, deafness and narcolepsy
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy

spinocerebellar ataxia type 18
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9976
database_cross_reference: OMIM:607458
has_obo_namespace: disease_ontology
id: DOID:0050969

Axiom
annotated source: spinocerebellar ataxia type 18
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18

spinocerebellar ataxia type 19/22
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:12365
database_cross_reference: OMIM:607346
has_obo_namespace: disease_ontology
id: DOID:0050970

Axiom
annotated source: spinocerebellar ataxia type 19/22
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22

spinocerebellar ataxia type 20
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9997
database_cross_reference: OMIM:608687
has_obo_namespace: disease_ontology
id: DOID:0050971

Axiom
annotated source: spinocerebellar ataxia type 20
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20

spinocerebellar ataxia type 21
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9999
database_cross_reference: OMIM:607454
has_obo_namespace: disease_ontology
id: DOID:0050972

Axiom
annotated source: spinocerebellar ataxia type 21
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21

spinocerebellar ataxia type 23
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:610245
has_obo_namespace: disease_ontology
id: DOID:0050973

Axiom
annotated source: spinocerebellar ataxia type 23
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23

spinocerebellar ataxia type 25
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9996
database_cross_reference: MESH:C537202
database_cross_reference: OMIM:608703
has_obo_namespace: disease_ontology
id: DOID:0050974

Axiom
annotated source: spinocerebellar ataxia type 25
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25

spinocerebellar ataxia type 26
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:9995
database_cross_reference: MESH:C537203
database_cross_reference: OMIM:609306
has_obo_namespace: disease_ontology
id: DOID:0050975

Axiom
annotated source: spinocerebellar ataxia type 26
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26

spinocerebellar ataxia type 27
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, 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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
has_alternative_id: DOID:0111794
database_cross_reference: GARD:9603
database_cross_reference: OMIM:193003
has_exact_synonym: autosomal dominant congenital nystagmus 4
has_exact_synonym: congenital nystagmus 4
has_exact_synonym: vestibulocerebellar disorder with predominant ocular signs
has_obo_namespace: disease_ontology
id: DOID:0050976

Axiom
annotated source: spinocerebellar ataxia type 27
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, 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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27

spinocerebellar ataxia type 28
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:610246
has_obo_namespace: disease_ontology
id: DOID:0050977

Axiom
annotated source: spinocerebellar ataxia type 28
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28

spinocerebellar ataxia type 29
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:117360
has_obo_namespace: disease_ontology
id: DOID:0050978

Axiom
annotated source: spinocerebellar ataxia type 29
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29

spinocerebellar ataxia type 30
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: GARD:4950
database_cross_reference: OMIM:613371
has_obo_namespace: disease_ontology
id: DOID:0050979

Axiom
annotated source: spinocerebellar ataxia type 30
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613371

spinocerebellar ataxia type 31
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:117210
has_obo_namespace: disease_ontology
id: DOID:0050980

Axiom
annotated source: spinocerebellar ataxia type 31
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31

spinocerebellar ataxia type 34
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:133190
has_obo_namespace: disease_ontology
id: DOID:0050981

Axiom
annotated source: spinocerebellar ataxia type 34
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34

spinocerebellar ataxia type 35
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:613908
has_obo_namespace: disease_ontology
id: DOID:0050982

Axiom
annotated source: spinocerebellar ataxia type 35
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613908

spinocerebellar ataxia type 36
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:614153
has_obo_namespace: disease_ontology
id: DOID:0050983

Axiom
annotated source: spinocerebellar ataxia type 36
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36

spinocerebellar ataxia type 37
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:615945
has_obo_namespace: disease_ontology
id: DOID:0050984

Axiom
annotated source: spinocerebellar ataxia type 37
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615945

spinocerebellar ataxia type 38
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:615957
has_obo_namespace: disease_ontology
id: DOID:0050985

Axiom
annotated source: spinocerebellar ataxia type 38
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615957

spinocerebellar ataxia type 40
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
created_by: lschriml
creation_date: 2015-10-06T16:11:07Z
database_cross_reference: OMIM:616053
has_obo_namespace: disease_ontology
id: DOID:0050986

Axiom
annotated source: spinocerebellar ataxia type 40
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/616053

hypomyelinating leukoencephalopathy
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.
created_by: lschriml
creation_date: 2015-10-06T16:24:06Z
has_obo_namespace: disease_ontology
id: DOID:0050987

Axiom
annotated source: hypomyelinating leukoencephalopathy
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22232354

GRID2-related spinocerebellar ataxia
type: Class
subclass of: DOID 1441
definition: An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.
created_by: lschriml
creation_date: 2015-10-06T16:24:06Z
has_obo_namespace: disease_ontology
id: DOID:0050988

Axiom
annotated source: GRID2-related spinocerebellar ataxia
annotated property: definition
annotated target: An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/

episodic ataxia type 1
type: Class
subclass of: DOID 963
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.
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: OMIM:160120
has_obo_namespace: disease_ontology
id: DOID:0050989

Axiom
annotated source: episodic ataxia type 1
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/160120

episodic ataxia type 2
type: Class
subclass of: DOID 963
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.
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: MESH:C535506
database_cross_reference: OMIM:108500
has_obo_namespace: disease_ontology
id: DOID:0050990

Axiom
annotated source: episodic ataxia type 2
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/108500

episodic ataxia type 3
type: Class
subclass of: DOID 963
definition: An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance.
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: OMIM:606554
has_obo_namespace: disease_ontology
id: DOID:0050991

Axiom
annotated source: episodic ataxia type 3
annotated property: definition
annotated target: An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/606554

episodic ataxia type 4
type: Class
subclass of: DOID 963
definition: An episodic ataxia that is characterized by vertigo and diplopia.
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: OMIM:606552
has_obo_namespace: disease_ontology
id: DOID:0050992

Axiom
annotated source: episodic ataxia type 4
annotated property: definition
annotated target: An episodic ataxia that is characterized by vertigo and diplopia.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/606552

episodic ataxia type 5
type: Class
subclass of: DOID 963
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.
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: OMIM:613855
has_obo_namespace: disease_ontology
id: DOID:0050993

Axiom
annotated source: episodic ataxia type 5
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613855

episodic ataxia type 6
type: Class
subclass of: DOID 963
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.
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: OMIM:612656
has_obo_namespace: disease_ontology
id: DOID:0050994

Axiom
annotated source: episodic ataxia type 6
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/612656

episodic ataxia type 7
type: Class
subclass of: DOID 963
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.
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: OMIM:611907
has_obo_namespace: disease_ontology
id: DOID:0050995

Axiom
annotated source: episodic ataxia type 7
annotated property: definition
annotated target: An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/611907

episodic ataxia type 8
type: Class
subclass of: DOID 963
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.
created_by: lschriml
creation_date: 2015-10-07T13:38:56Z
database_cross_reference: OMIM:616055
has_obo_namespace: disease_ontology
id: DOID:0050996

Axiom
annotated source: episodic ataxia type 8
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/616055

cerebellar ataxia, mental retardation and dysequlibrium syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
created_by: lschriml
creation_date: 2015-10-07T13:48:09Z
database_cross_reference: GARD:1998
database_cross_reference: OMIM:224050
database_cross_reference: OMIM:610185
database_cross_reference: OMIM:613227
database_cross_reference: OMIM:615268
has_exact_synonym: CAMRQ
has_exact_synonym: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
has_exact_synonym: Uner Tan syndrome
has_exact_synonym: VLDLR Cerebellar Hypoplasia
has_obo_namespace: disease_ontology
id: DOID:0050997

Axiom
annotated source: cerebellar ataxia, mental retardation and dysequlibrium syndrome
annotated property: definition
annotated target: An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1138/
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/28013290/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1874/

nonprogressive cerebellar ataxia with mental retardation
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2015-10-07T14:08:24Z
database_cross_reference: OMIM:614756
has_obo_namespace: disease_ontology
id: DOID:0050998

Axiom
annotated source: nonprogressive cerebellar ataxia with mental retardation
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/614756

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.
created_by: lschriml
creation_date: 2015-10-07T14:43:23Z
database_cross_reference: OMIM:613728
has_exact_synonym: SCAR10
has_obo_namespace: disease_ontology
id: DOID:0050999

Axiom
annotated source: autosomal recessive spinocerebellar ataxia 10
annotated property: definition
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.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613728

infective endocarditis
type: Class
subclass of: DOID_10314
subclass of: DOID 104
subclass of: DOID 1564
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

Axiom
annotated source: infective endocarditis
annotated property: definition
annotated target: An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
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

withdrawal disorder
type: Class
subclass of: DOID 303
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

Axiom
annotated source: withdrawal disorder
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Withdrawal

C1 inhibitor deficiency
type: Class
subclass of: DOID 626
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
annotated source: C1 inhibitor deficiency
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease
comment: ls:IEDB

autoimmune disease of central nervous system
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017
subclass of: DOID 331
subclass of: DOID 438
definition: An autoimmune hypersensitivity disease located_in the central nervous system.
has_obo_namespace: disease_ontology
id: DOID:0060004

Axiom
annotated source: autoimmune disease of central nervous system
annotated property: definition
annotated target: An autoimmune hypersensitivity disease located_in the central nervous system.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

autoimmune disease of endocrine system
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000949
subclass of: DOID 28
subclass of: DOID 417
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

Axiom
annotated source: autoimmune disease of endocrine system
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

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
annotated source: obsolete artemis deficiency
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/DCLRE1C

CD3zeta deficiency
type: Class
subclass of: DOID 627
definition: A severe combined immunodeficiency that affects the development and function of T cells.
has_obo_namespace: disease_ontology
id: DOID:0060007

Axiom
annotated source: CD3zeta deficiency
annotated property: definition
annotated target: A severe combined immunodeficiency that affects the development and function of T cells.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16264327

janus kinase-3 deficiency
type: Class
subclass of: DOID 627
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: OMIM:600802
has_obo_namespace: disease_ontology
id: DOID:0060008

Axiom
annotated source: janus kinase-3 deficiency
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance

MHC class I deficiency
type: Class
subclass of: DOID 627
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: OMIM: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
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: MHC class I deficiency
annotated property: definition
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.
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

Omenn syndrome
type: Class
subclass of: DOID 627
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: OMIM:603554
has_exact_synonym: combined immunodeficiency with hypereosinophilia
has_obo_namespace: disease_ontology
id: DOID:0060010

Axiom
annotated source: Omenn syndrome
annotated property: definition
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.
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

recombinase activating gene 1 deficiency
type: Class
subclass of: DOID 627
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
annotated source: recombinase activating gene 1 deficiency
annotated property: definition
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.
database_cross_reference: url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html

recombinase activating gene 2 deficiency
type: Class
subclass of: DOID 627
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
annotated source: recombinase activating gene 2 deficiency
annotated property: definition
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.
database_cross_reference: url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html

X-linked severe combined immunodeficiency
type: Class
subclass of: DOID_0080012
subclass of: DOID 627
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: NCI:C4682
database_cross_reference: OMIM:300400
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: X-linked severe combined immunodeficiency
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

CD45 deficiency
type: Class
subclass of: DOID 627
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
annotated source: CD45 deficiency
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29366662

interleukin-7 receptor alpha deficiency
type: Class
subclass of: DOID 627
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.
has_exact_synonym: IL-7R
has_obo_namespace: disease_ontology
id: DOID:0060015

Axiom
annotated source: interleukin-7 receptor alpha deficiency
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15661025

CD3delta deficiency
type: Class
subclass of: DOID 627
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
annotated source: CD3delta deficiency
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15640687

CD3epsilon deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 627
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
annotated source: CD3epsilon deficiency
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16264327

CD3gamma deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 627
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
annotated source: CD3gamma deficiency
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16264327

coronin-1A deficiency
type: Class
subclass of: DOID 627
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: OMIM:615401
has_obo_namespace: disease_ontology
id: DOID:0060019

Axiom
annotated source: coronin-1A deficiency
annotated property: definition
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.
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

reticular dysgenesis
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 627
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: NCI:C27070
database_cross_reference: OMIM:267500
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: reticular dysgenesis
annotated property: definition
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.
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?

DNA ligase IV deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 628
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: OMIM:606593
has_exact_synonym: LIG4 Syndrome
has_obo_namespace: disease_ontology
id: DOID:0060021
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: DNA ligase IV deficiency
annotated property: definition
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.
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

CD40 ligand deficiency
type: Class
subclass of: DOID_0080012
subclass of: DOID 628
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: OMIM:308230
has_exact_synonym: HIGMX-1
has_exact_synonym: X-linked hyper-IgM syndrome
has_obo_namespace: disease_ontology
id: DOID:0060022

Axiom
annotated source: CD40 ligand deficiency
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30681380

immunodeficiency with hyper IgM type 3
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080544
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: NCI:C84783
database_cross_reference: OMIM:606843
database_cross_reference: ORDO:101090
has_exact_synonym: CD40 deficiency
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

Axiom
annotated source: immunodeficiency with hyper IgM type 3
annotated property: definition
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.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11675497

lambda 5 deficiency
type: Class
subclass of: monogenic disease
subclass of: DOID 2115
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

Axiom
annotated source: lambda 5 deficiency
annotated property: definition
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.
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?

immunoglobulin alpha deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2115
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: OMIM:137100
database_cross_reference: OMIM:269650
database_cross_reference: OMIM:609529
database_cross_reference: ORDO:69127
database_cross_reference: SNOMEDCT_US_2022_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
comment: Xref MGI.

Axiom
annotated source: immunoglobulin alpha deficiency
annotated property: definition
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.
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?

immunoglobulin beta deficiency
type: Class
subclass of: DOID 2115
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
annotated source: immunoglobulin beta deficiency
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency

agammaglobulinemia 4
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2583
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: OMIM: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

Axiom
annotated source: agammaglobulinemia 4
annotated property: definition
annotated target: An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10583958

Good syndrome
type: Class
subclass of: DOID 628
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
annotated source: Good syndrome
annotated property: definition
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.
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/pmc/articles/PMC3102047/

autoimmune disease of exocrine system
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002330
subclass of: DOID 417
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

Axiom
annotated source: autoimmune disease of exocrine system
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

autoimmune disease of eyes, ear, nose and throat
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032
subclass of: sensory system disease
subclass of: DOID 438
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

Axiom
annotated source: autoimmune disease of eyes, ear, nose and throat
annotated property: definition
annotated target: An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

autoimmune disease of gastrointestinal tract
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001007
subclass of: DOID 417
subclass of: DOID 77
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

Axiom
annotated source: autoimmune disease of gastrointestinal tract
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

autoimmune disease of musculoskeletal system
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204
subclass of: DOID 17
subclass of: DOID 417
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

Axiom
annotated source: autoimmune disease of musculoskeletal system
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

autoimmune disease of peripheral nervous system
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000010
subclass of: DOID 438
subclass of: DOID 574
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

Axiom
annotated source: autoimmune disease of peripheral nervous system
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

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
annotated source: dropped head syndrome
annotated property: definition
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.
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

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
annotated source: obsolete medical disorder
annotated property: definition
annotated target: A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
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

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
annotated source: intrinsic cardiomyopathy
annotated property: definition
annotated target: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
database_cross_reference: url:https://en.wikipedia.org/wiki/Cardiomyopathy

developmental disorder of mental health
type: Class
subclass of: DOID 150
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

Axiom
annotated source: developmental disorder of mental health
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Developmental_disorders

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
annotated source: specific developmental disorder
annotated property: definition
annotated target: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Specific_developmental_disorder

autoimmune disease of skin and connective tissue
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: Class
      intersection of: UBERON_0000014
      intersection of: UBERON_0002384
subclass of: autoimmune disease of musculoskeletal system
subclass of: DOID 37
subclass of: DOID 65
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

Axiom
annotated source: autoimmune disease of skin and connective tissue
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

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
annotated source: pervasive developmental disorder
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://www.ninds.nih.gov/Disorders/All-Disorders/Pervasive-Developmental-Disorders-Information-Page

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

Axiom
annotated source: autism spectrum disorder
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder
database_cross_reference: url:http://www.neurodevnet.ca

atypical autism
type: Class
subclass of: autism spectrum disorder
definition: An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
has_exact_synonym: PDD
has_obo_namespace: disease_ontology
id: DOID:0060042

Axiom
annotated source: atypical autism
annotated property: definition
annotated target: An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
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

sexual health disorder
type: Class
subclass of: DOID 150
definition: A disease of mental health that involves the impairment in normal sexual functioning.
has_obo_namespace: disease_ontology
id: DOID:0060043

Axiom
annotated source: sexual health disorder
annotated property: definition
annotated target: A disease of mental health that involves the impairment in normal sexual functioning.
database_cross_reference: url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction

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
annotated source: paraphilia disorder
annotated property: definition
annotated target: A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Paraphilia

Munchausen by proxy
type: Class
subclass of: DOID 1766
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

Axiom
annotated source: Munchausen by proxy
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Munchausen_by_proxy

aphasia
type: Class
subclass of: DOID 93
definition: A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
database_cross_reference: MESH:D001037
has_obo_namespace: disease_ontology
id: DOID:0060046

Axiom
annotated source: aphasia
annotated property: definition
annotated target: A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Aphasia

writing disorder
type: Class
subclass of: DOID 8927
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

Axiom
annotated source: writing disorder
annotated property: definition
annotated target: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities

nosophobia
type: Class
subclass of: DOID 599
definition: A specific phobia that involves an irrational fear of contracting a disease.
has_obo_namespace: disease_ontology
id: DOID:0060048

Axiom
annotated source: nosophobia
annotated property: definition
annotated target: A specific phobia that involves an irrational fear of contracting a disease.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Nosophobia

autoimmune disease of urogenital tract
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004122
subclass of: DOID 417
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

Axiom
annotated source: autoimmune disease of urogenital tract
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

autoimmune disease of blood
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000178
subclass of: DOID 417
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

Axiom
annotated source: autoimmune disease of blood
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

autoimmune disease of cardiovascular system
type: Class
equivalent class: Class
  intersection of: DOID 417
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004535
subclass of: DOID 1287
subclass of: DOID 417
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

Axiom
annotated source: autoimmune disease of cardiovascular system
annotated property: definition
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.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

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
annotated source: obsolete neurological disorder
annotated property: definition
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.
database_cross_reference: ls:IEDB

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
annotated source: obsolete peripheral neuropathy
annotated property: definition
annotated target: A neuropathy that is located_in nerves of the peripheral nervous system.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_neuropathy

autonomic peripheral neuropathy
type: Class
subclass of: DOID 870
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
annotated source: autonomic peripheral neuropathy
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Autonomic_neuropathy

popliteal pterygium syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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.
created_by: emitraka
creation_date: 2015-02-04T14:16:39Z
database_cross_reference: GARD:3242
database_cross_reference: MESH:C562509
database_cross_reference: NCI:C118786
database_cross_reference: OMIM:119500
database_cross_reference: OMIM:263650
database_cross_reference: ORDO:1300
database_cross_reference: ORDO:294963
database_cross_reference: SNOMEDCT_US_2022_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
comment: NT MGI.

Axiom
annotated source: popliteal pterygium syndrome
annotated property: definition
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.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
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

hypersensitivity reaction disease
type: Class
subclass of: DOID 2914
definition: An immune system disease that has_material_basis_in abnormal immune responses.
has_obo_namespace: disease_ontology
id: DOID:0060056

Axiom
annotated source: hypersensitivity reaction disease
annotated property: definition
annotated target: An immune system disease that has_material_basis_in abnormal immune responses.
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/

gluten allergy
type: Class
subclass of: DOID 3044
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

Axiom
annotated source: gluten allergy
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy

lymphoma
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: has material basis in
    some values from: CL_0000542
subclass of: lymphatic system cancer
subclass of: DOID 2531
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_2022_09_01:118600007
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: lymphoma
annotated property: definition
annotated target: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
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

non-Hodgkin lymphoma
type: Class
subclass of: lymphoma
definition: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
database_cross_reference: ICDO:9591/3
database_cross_reference: MESH:D008228
database_cross_reference: NCI:C3211
database_cross_reference: OMIM:605027
database_cross_reference: ORDO:547
database_cross_reference: UMLS_CUI:C0024305
has_obo_namespace: disease_ontology
id: DOID:0060060
in_subset: DO_cancer_slim
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: non-Hodgkin lymphoma
annotated property: definition
annotated target: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
dc:type: ECO_0007637
dc:type: ECO_0007638
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

primary cutaneous T-cell non-Hodgkin lymphoma
type: Class
subclass of: peripheral T-cell lymphoma
definition: A non-Hodgkin's 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

Axiom
annotated source: primary cutaneous T-cell non-Hodgkin lymphoma
annotated property: definition
annotated target: A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma

familial juvenile hyperuricemic nephropathy
type: Class
subclass of: DOID 557
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011462
definition: A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
database_cross_reference: OMIM:162000
database_cross_reference: OMIM:613092
database_cross_reference: OMIM:614227
database_cross_reference: ORDO:209886
database_cross_reference: ORDO:217330
has_obo_namespace: disease_ontology
id: DOID:0060062
in_subset: DO_rare_slim
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: familial juvenile hyperuricemic nephropathy
annotated property: definition
annotated target: A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21060763

sideroblastic anemia 1
type: Class
subclass of: DOID_0080012
subclass of: DOID 8955
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: OMIM: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
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: sideroblastic anemia 1
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia

obsolete sideroblastic anemia with spinocerebellar ataxia
type: Class
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
comment: OMIM mapping confirmed by DO. [LS].
owl:deprecated: true

Axiom
annotated source: obsolete sideroblastic anemia with spinocerebellar ataxia
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/668/anemia-sideroblastic-and-spinocerebellar-ataxia

autosomal recessive pyridoxine-refractory sideroblastic anemia 2
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 8955
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: OMIM: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
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: autosomal recessive pyridoxine-refractory sideroblastic anemia 2
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive

pyridoxine-responsive sideroblastic anemia
type: Class
subclass of: DOID 8955
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: OMIM:206000
has_obo_namespace: disease_ontology
id: DOID:0060066
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: pyridoxine-responsive sideroblastic anemia
annotated property: definition
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.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive

Pearson syndrome
type: Class
subclass of: DOID 700
definition: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
database_cross_reference: GARD:7343
database_cross_reference: OMIM:557000
has_exact_synonym: Pearson Marrow-Pancreas Syndrome
has_obo_namespace: disease_ontology
id: DOID:0060067
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Pearson syndrome
annotated property: definition
annotated target: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pearson_syndrome

nonbacterial thrombotic endocarditis
type: Class
subclass of: DOID_10314
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.
created_by: lschriml
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
annotated source: nonbacterial thrombotic endocarditis
annotated property: definition
annotated target: An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Marantic_endocarditis

obsolete Bacillus cereus pneumonia
type: Class
created_by: lschriml
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: DOID_14566
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.
created_by: lschriml
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

Axiom
annotated source: pre-malignant neoplasm
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Neoplasm

benign neoplasm
type: Class
subclass of: DOID_14566
disjoint with: DOID 162
definition: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
created_by: lschriml
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

Axiom
annotated source: benign neoplasm
annotated property: definition
annotated target: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
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

lymphatic system cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001744
subclass of: immune system cancer
subclass of: DOID 75
definition: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
created_by: lschriml
creation_date: 2011-05-11T01:05:14Z
has_obo_namespace: disease_ontology
id: DOID:0060073

Axiom
annotated source: lymphatic system cancer
annotated property: definition
annotated target: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphatic_system

ductal carcinoma in situ
type: Class
subclass of: DOID 8791
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.
created_by: lschriml
creation_date: 2011-06-08T12:19:28Z
has_obo_namespace: disease_ontology
id: DOID:0060074

Axiom
annotated source: ductal carcinoma in situ
annotated property: definition
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.
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

estrogen-receptor positive breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that is characterized by the presence of estrogen receptors.
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060075
in_subset: DO_cancer_slim

Axiom
annotated source: estrogen-receptor positive breast cancer
annotated property: definition
annotated target: A breast cancer that is characterized by the presence of estrogen receptors.
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

estrogen-receptor negative breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that is characterized by the absence of estrogen receptors.
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060076
in_subset: DO_cancer_slim

Axiom
annotated source: estrogen-receptor negative breast cancer
annotated property: definition
annotated target: A breast cancer that is characterized by the absence of estrogen receptors.
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

progesterone-receptor positive breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that is characterized by the presence of progesterone receptors.
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060077

Axiom
annotated source: progesterone-receptor positive breast cancer
annotated property: definition
annotated target: A breast cancer that is characterized by the presence of progesterone receptors.
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

progesterone-receptor negative breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that is characterized by the absence of progesterone receptors.
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060078

Axiom
annotated source: progesterone-receptor negative breast cancer
annotated property: definition
annotated target: A breast cancer that is characterized by the absence of progesterone receptors.
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

Her2-receptor positive breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that is characterized by the presence of Her2 receptors.
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060079
in_subset: DO_cancer_slim

Axiom
annotated source: Her2-receptor positive breast cancer
annotated property: definition
annotated target: A breast cancer that is characterized by the presence of Her2 receptors.
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

Her2-receptor negative breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that is characterized by the absence of Her2 receptors.
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060080
in_subset: DO_cancer_slim

Axiom
annotated source: Her2-receptor negative breast cancer
annotated property: definition
annotated target: A breast cancer that is characterized by the absence of Her2 receptors.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25682076

triple-receptor negative breast cancer
type: Class
subclass of: DOID 1612
definition: A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.
created_by: lschriml
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
id: DOID:0060081
in_subset: DO_cancer_slim

Axiom
annotated source: triple-receptor negative breast cancer
annotated property: definition
annotated target: A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22826413

breast benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000310
subclass of: thoracic benign neoplasm
subclass of: DOID 3463
definition: A thoracic benign neoplasm that is characterized by lack of malignancy.
created_by: lschriml
creation_date: 2011-06-08T01:02:29Z
has_obo_namespace: disease_ontology
id: DOID:0060082

Axiom
annotated source: breast benign neoplasm
annotated property: definition
annotated target: A thoracic benign neoplasm that is characterized by lack of malignancy.
dc:type: ECO_0007637
database_cross_reference: url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html

immune system cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002405
subclass of: organ system cancer
subclass of: DOID 2914
definition: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
created_by: lschriml
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

Axiom
annotated source: immune system cancer
annotated property: definition
annotated target: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Immune_system

cell type benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0001000
    some values from: CL_0000000
subclass of: benign neoplasm
definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
created_by: lschriml
creation_date: 2011-07-14T11:59:48Z
has_obo_namespace: disease_ontology
id: DOID:0060084

Axiom
annotated source: cell type benign neoplasm
annotated property: definition
annotated target: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Benign_tumor

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.
created_by: lschriml
creation_date: 2011-07-14T12:12:23Z
has_obo_namespace: disease_ontology
id: DOID:0060085
in_subset: DO_FlyBase_slim

Axiom
annotated source: organ system benign neoplasm
annotated property: definition
annotated target: A benign neoplasm that is classified by the organ system from which it is arising from.
dc:type: ECO_0007636
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367

female reproductive organ benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000474
subclass of: reproductive organ benign neoplasm
subclass of: DOID 229
definition: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
created_by: lschriml
creation_date: 2011-07-14T12:20:52Z
has_obo_namespace: disease_ontology
id: DOID:0060086

Axiom
annotated source: female reproductive organ benign neoplasm
annotated property: definition
annotated target: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK9559/

male reproductive organ benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000079
subclass of: reproductive organ benign neoplasm
subclass of: DOID 48
definition: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
created_by: lschriml
creation_date: 2011-07-14T12:20:52Z
has_obo_namespace: disease_ontology
id: DOID:0060087

Axiom
annotated source: male reproductive organ benign neoplasm
annotated property: definition
annotated target: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK9556/

vestibular gland benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0011826
subclass of: female reproductive organ benign neoplasm
definition: A female reproductive organ benign neoplasm that is located_in the vestibular gland.
created_by: lschriml
creation_date: 2011-07-14T12:36:54Z
has_obo_namespace: disease_ontology
id: DOID:0060088

Axiom
annotated source: vestibular gland benign neoplasm
annotated property: definition
annotated target: A female reproductive organ benign neoplasm that is located_in the vestibular gland.
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

endocrine organ benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002368
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.
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060089

Axiom
annotated source: endocrine organ benign neoplasm
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Endocrine_system

central nervous system benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001017
subclass of: nervous system benign neoplasm
subclass of: DOID 331
definition: A nervous system benign neoplasm that is characterized by lack of malignancy.
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060090

Axiom
annotated source: central nervous system benign neoplasm
annotated property: definition
annotated target: A nervous system benign neoplasm that is characterized by lack of malignancy.
dc:type: ECO_0007637
database_cross_reference: url:https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq

cardiovascular organ benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0004535
subclass of: organ system benign neoplasm
subclass of: DOID 1287
definition: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060091

Axiom
annotated source: cardiovascular organ benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system

immune system organ benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0005057
subclass of: organ system benign neoplasm
definition: An organ system benign neoplasm located_in the immune system organs.
created_by: lschriml
creation_date: 2011-07-14T01:58:49Z
has_obo_namespace: disease_ontology
id: DOID:0060092

Axiom
annotated source: immune system organ benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm located_in the immune system organs.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Immune_system

bone benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001474
subclass of: connective tissue benign neoplasm
subclass of: DOID_0080001
definition: A connective tissue benign neoplasm that is located_in bone.
created_by: lschriml
creation_date: 2011-07-15T01:34:59Z
has_obo_namespace: disease_ontology
id: DOID:0060094

Axiom
annotated source: bone benign neoplasm
annotated property: definition
annotated target: A connective tissue benign neoplasm that is located_in bone.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Bone_tumor

uterine benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000995
subclass of: female reproductive organ benign neoplasm
subclass of: DOID 345
definition: A female reproductive organ benign neoplasm that is located_in the uterus.
created_by: lschriml
creation_date: 2011-07-15T01:42:11Z
has_alternative_id: DOID:0060113
has_obo_namespace: disease_ontology
id: DOID:0060095

Axiom
annotated source: uterine benign neoplasm
annotated property: definition
annotated target: A female reproductive organ benign neoplasm that is located_in the uterus.
dc:type: ECO_0007638
dc:type: ECO_0007646
database_cross_reference: url:https://en.wikipedia.org/wiki/Uterine_fibroid
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK9559/

sensory organ benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032
subclass of: sensory system disease
subclass of: nervous system benign neoplasm
definition: A nervous system benign neoplasm that is located_in a sensory organ.
created_by: lschriml
creation_date: 2011-07-15T01:45:26Z
has_obo_namespace: disease_ontology
id: DOID:0060096

Axiom
annotated source: sensory organ benign neoplasm
annotated property: definition
annotated target: A nervous system benign neoplasm that is located_in a sensory organ.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system

thoracic benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000915
subclass of: organ system benign neoplasm
subclass of: thoracic disease
definition: An organ system benign neoplam that is located_in the thoracic cavity.
created_by: lschriml
creation_date: 2011-07-15T01:55:57Z
has_obo_namespace: disease_ontology
id: DOID:0060097

Axiom
annotated source: thoracic benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplam that is located_in the thoracic cavity.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/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.
created_by: lschriml
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
annotated source: osteoblastoma
annotated property: definition
annotated target: A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Osteoblastoma

musculoskeletal system benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204
subclass of: organ system benign neoplasm
subclass of: DOID 17
definition: An organ system benign neoplasm that is located_in the muscular and skeletal organs.
created_by: lschriml
creation_date: 2011-07-15T02:28:52Z
has_obo_namespace: disease_ontology
id: DOID:0060099

Axiom
annotated source: musculoskeletal system benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm that is located_in the muscular and skeletal organs.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Musculoskeletal_system

musculoskeletal system cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002204
subclass of: organ system cancer
subclass of: DOID 17
definition: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
created_by: lschriml
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

Axiom
annotated source: musculoskeletal system cancer
annotated property: definition
annotated target: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders

obsolete benign glioma
type: Class
definition: A cell type benign neoplasm that has_material_basis_in glial cells.
created_by: lschriml
creation_date: 2011-07-19T01:27:04Z
has_obo_namespace: disease_ontology
id: DOID:0060101
owl:deprecated: true

Axiom
annotated source: obsolete benign glioma
annotated property: definition
annotated target: A cell type benign neoplasm that has_material_basis_in glial cells.
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45700

cartilage cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002418
subclass of: DOID 1222
subclass of: DOID 201
definition: A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.
created_by: lschriml
creation_date: 2011-07-20T01:40:49Z
has_obo_namespace: disease_ontology
id: DOID:0060102

Axiom
annotated source: cartilage cancer
annotated property: definition
annotated target: A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cartilage_tumor

central nervous system embryonal tumor
type: Class
subclass of: DOID 368
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.
created_by: lschriml
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

Axiom
annotated source: central nervous system embryonal tumor
annotated property: definition
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.
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

cerebellar medulloblastoma
type: Class
subclass of: DOID 4205
definition: A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
created_by: lschriml
creation_date: 2011-07-21T02:28:01Z
has_obo_namespace: disease_ontology
id: DOID:0060104
in_subset: DO_cancer_slim

Axiom
annotated source: cerebellar medulloblastoma
annotated property: definition
annotated target: A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Medulloblastoma

brain meningioma
type: Class
equivalent class: Class
  intersection of: DOID 3565
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000955
subclass of: DOID 1319
subclass of: DOID 3565
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.
created_by: lschriml
creation_date: 2011-07-21T05:39:28Z
has_obo_namespace: disease_ontology
id: DOID:0060106

Axiom
annotated source: brain meningioma
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Meningioma

brain glioma
type: Class
subclass of: DOID 1319
definition: A brain cancer that has_material_basis_in glial cells.
created_by: lschriml
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
annotated source: brain glioma
annotated property: definition
annotated target: A brain cancer that has_material_basis_in glial cells.
dc:type: ECO_0007637
dc:type: ECO_0007641
database_cross_reference: url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma
database_cross_reference: url:http://www.cancer.gov/dictionary?CdrID=45700

vulvar benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000997
subclass of: female reproductive organ benign neoplasm
subclass of: DOID 2059
definition: A female reproductive organ benign neoplasm that is located_in the vulva.
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060109

Axiom
annotated source: vulvar benign neoplasm
annotated property: definition
annotated target: A female reproductive organ benign neoplasm that is located_in the vulva.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25220103

cervical benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000002
subclass of: uterine benign neoplasm
subclass of: DOID 2253
definition: A female reproductive organ benign neoplasm that is located_in the cervix.
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060110

Axiom
annotated source: cervical benign neoplasm
annotated property: definition
annotated target: A female reproductive organ benign neoplasm that is located_in the cervix.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8400047

fallopian tube benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0003889
subclass of: female reproductive organ benign neoplasm
subclass of: DOID 1962
definition: A female reproductive organ benign neoplasm that is located_in the fallopian tube.
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060111

Axiom
annotated source: fallopian tube benign neoplasm
annotated property: definition
annotated target: A female reproductive organ benign neoplasm that is located_in the fallopian tube.
dc:type: ECO_0007637
database_cross_reference: url:http://www.glowm.com/section_view/item/8

ovarian benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000992
subclass of: female reproductive organ benign neoplasm
subclass of: DOID 1100
definition: A female reproductive organ benign neoplasm that is located_in the ovary.
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060112

Axiom
annotated source: ovarian benign neoplasm
annotated property: definition
annotated target: A female reproductive organ benign neoplasm that is located_in the ovary.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24992780

vaginal benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000996
subclass of: female reproductive organ benign neoplasm
subclass of: DOID 121
definition: A female reproductive organ benign neoplasm that is located_in the vagina.
created_by: lschriml
creation_date: 2011-07-25T11:50:50Z
has_obo_namespace: disease_ontology
id: DOID:0060114

Axiom
annotated source: vaginal benign neoplasm
annotated property: definition
annotated target: A female reproductive organ benign neoplasm that is located_in the vagina.
dc:type: ECO_0007637
database_cross_reference: url:https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5

nervous system benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001016
subclass of: organ system benign neoplasm
subclass of: DOID 863
definition: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
created_by: lschriml
creation_date: 2011-07-25T12:47:43Z
has_obo_namespace: disease_ontology
id: DOID:0060115

Axiom
annotated source: nervous system benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Nervous_system

sensory system cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001032
subclass of: sensory system disease
subclass of: DOID 3093
definition: A nervous system cancer that is located in the sensory system.
created_by: lschriml
creation_date: 2011-07-25T01:51:56Z
has_obo_namespace: disease_ontology
id: DOID:0060116

Axiom
annotated source: sensory system cancer
annotated property: definition
annotated target: A nervous system cancer that is located in the sensory system.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sensory_system

peritoneal benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002358
subclass of: thoracic benign neoplasm
definition: A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
created_by: lschriml
creation_date: 2011-07-25T02:20:33Z
has_obo_namespace: disease_ontology
id: DOID:0060117

Axiom
annotated source: peritoneal benign neoplasm
annotated property: definition
annotated target: A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Peritoneal

thoracic disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000915
subclass of: DOID 7
definition: A disease of anatomical entity that is located_in the thoracic cavity.
created_by: lschriml
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

Axiom
annotated source: thoracic disease
annotated property: definition
annotated target: A disease of anatomical entity that is located_in the thoracic cavity.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Thoracic_cavity

pharynx cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0006562
subclass of: DOID 3119
definition: A gastrointestinal system cancer that is located_in the pharynx.
created_by: lschriml
creation_date: 2011-07-27T01:26:34Z
database_cross_reference: MESH:D010610
database_cross_reference: NCI:C3325
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: pharynx cancer
annotated property: definition
annotated target: A gastrointestinal system cancer that is located_in the pharynx.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pharynx

obsolete skeletal system benign neoplasm
type: Class
created_by: lschriml
creation_date: 2011-07-27T01:46:00Z
has_obo_namespace: disease_ontology
id: DOID:0060120
owl:deprecated: true

integumentary system benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002416
subclass of: organ system benign neoplasm
subclass of: DOID 16
definition: An organ system benign neoplasm located_in the integumentary system organs.
created_by: lschriml
creation_date: 2011-07-27T01:49:44Z
has_obo_namespace: disease_ontology
id: DOID:0060121

Axiom
annotated source: integumentary system benign neoplasm
annotated property: definition
annotated target: An organ system benign neoplasm located_in the integumentary system organs.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Integumentary_system

integumentary system cancer
type: Class
equivalent class: Class
  intersection of: DOID 162
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002416
subclass of: organ system cancer
subclass of: DOID 16
definition: An organ system cancer that is located_in the skin, hair and nails.
created_by: lschriml
creation_date: 2011-07-27T02:31:34Z
has_obo_namespace: disease_ontology
id: DOID:0060122

Axiom
annotated source: integumentary system cancer
annotated property: definition
annotated target: An organ system cancer that is located_in the skin, hair and nails.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Integumentary_system

connective tissue benign neoplasm
type: Class
equivalent class: Class
  intersection of: benign neoplasm
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002384
subclass of: musculoskeletal system benign neoplasm
subclass of: DOID 65
definition: A musculoskeletal system benign neoplasm that is located_in connective tissue.
created_by: lschriml
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_2022_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

Axiom
annotated source: connective tissue benign neoplasm
annotated property: definition
annotated target: A musculoskeletal system benign neoplasm that is located_in connective tissue.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm

heavy chain disease
type: Class
subclass of: DOID 2916
definition: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
created_by: lschriml
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_2022_09_01:61493004
database_cross_reference: SNOMEDCT_US_2022_09_01:6381009
database_cross_reference: SNOMEDCT_US_2022_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

Axiom
annotated source: heavy chain disease
annotated property: definition
annotated target: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease

alpha chain disease
type: Class
subclass of: heavy chain disease
definition: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z
has_exact_synonym: Seligmann's disease
has_obo_namespace: disease_ontology
id: DOID:0060126

Axiom
annotated source: alpha chain disease
annotated property: definition
annotated target: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease

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).
created_by: lschriml
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

Axiom
annotated source: gamma heavy chain disease
annotated property: definition
annotated target: A heavy chain disease that results from an overproduction of gamma antibody (IgG).
dc:type: ECO_0007637
database_cross_reference: url:http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx

mu chain disease
type: Class
subclass of: heavy chain disease
definition: A heavy chain disease that results from an overproduction of mu antibody (IgM).
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z
has_obo_namespace: disease_ontology
id: DOID:0060128

Axiom
annotated source: mu chain disease
annotated property: definition
annotated target: A heavy chain disease that results from an overproduction of mu antibody (IgM).
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease

delta chain disease
type: Class
subclass of: heavy chain disease
definition: A heavy chain disease that results from an overproduction of delta antibody (IgD).
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z
has_obo_namespace: disease_ontology
id: DOID:0060129

Axiom
annotated source: delta chain disease
annotated property: definition
annotated target: A heavy chain disease that results from an overproduction of delta antibody (IgD).
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Heavy_chain_disease

akinetopsia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of motion perception.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060130

Axiom
annotated source: akinetopsia
annotated property: definition
annotated target: An agnosia that is a loss of motion perception.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

alexithymia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a deficiency in understanding, processing, or describing emotions.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060131

Axiom
annotated source: alexithymia
annotated property: definition
annotated target: An agnosia that is a deficiency in understanding, processing, or describing emotions.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

amusia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: receptive amusia
has_obo_namespace: disease_ontology
id: DOID:0060132

Axiom
annotated source: amusia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

anosognosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060133

Axiom
annotated source: anosognosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

apperceptive agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to distinguish visual shapes.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060134

Axiom
annotated source: apperceptive agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to distinguish visual shapes.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

apraxia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
created_by: lschriml
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_2022_09_01:271724003
database_cross_reference: UMLS_CUI:C0003635
has_obo_namespace: disease_ontology
id: DOID:0060135

Axiom
annotated source: apraxia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

associative agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060136

Axiom
annotated source: associative agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

auditory agnosia
type: Class
subclass of: DOID 4090
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.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060137

Axiom
annotated source: auditory agnosia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

autotopagnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to orient parts of the body.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060138

Axiom
annotated source: autotopagnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to orient parts of the body.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

color agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060139

Axiom
annotated source: color agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

cortical deafness
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060140

Axiom
annotated source: cortical deafness
annotated property: definition
annotated target: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

finger agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to distinguish the fingers on the hand.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060141

Axiom
annotated source: finger agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to distinguish the fingers on the hand.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

form agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060142

Axiom
annotated source: form agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

integrative agnosia
type: Class
subclass of: DOID 4090
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.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060143

Axiom
annotated source: integrative agnosia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

mirror agnosia
type: Class
subclass of: DOID 4090
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.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060144

Axiom
annotated source: mirror agnosia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

pain agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to perceive and process pain.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: analgesia
has_obo_namespace: disease_ontology
id: DOID:0060145

Axiom
annotated source: pain agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to perceive and process pain.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

phonagnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to recognize familiar voices.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060146

Axiom
annotated source: phonagnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to recognize familiar voices.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

semantic agnosia
type: Class
subclass of: DOID 4090
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.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060147

Axiom
annotated source: semantic agnosia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

simultanagnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
database_cross_reference: GARD:11943
has_obo_namespace: disease_ontology
id: DOID:0060148

Axiom
annotated source: simultanagnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

social emotional agnosia
type: Class
subclass of: DOID 4090
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.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: expressive agnosia
has_obo_namespace: disease_ontology
id: DOID:0060149

Axiom
annotated source: social emotional agnosia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

astereognosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: somatosensory agnosia
has_obo_namespace: disease_ontology
id: DOID:0060150

Axiom
annotated source: astereognosia
annotated property: definition
annotated target: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

tactile agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060151

Axiom
annotated source: tactile agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

time agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to comprehend the succession and duration of events.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060152

Axiom
annotated source: time agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to comprehend the succession and duration of events.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

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.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060153

Axiom
annotated source: topographical agnosia
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

verbal auditory agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060154

Axiom
annotated source: verbal auditory agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

visual agnosia
type: Class
subclass of: DOID 4090
definition: An agnosia that is a loss of the ability to visually recognize objects.
created_by: lschriml
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
annotated source: visual agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to visually recognize objects.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

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.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
id: DOID:0060156

Axiom
annotated source: visual verbal agnosia
annotated property: definition
annotated target: An agnosia that is a loss of the ability to comprehending the meaning of written words.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Agnosia

diffuse alopecia areata
type: Class
subclass of: DOID 986
definition: An alopecia areata that involves diffuse loss of hair over the whole scalp.
created_by: lschriml
creation_date: 2011-08-22T03:45:02Z
database_cross_reference: SNOMEDCT_US_2022_09_01:46586006
database_cross_reference: UMLS_CUI:C0263479
has_obo_namespace: disease_ontology
id: DOID:0060157

Axiom
annotated source: diffuse alopecia areata
annotated property: definition
annotated target: An alopecia areata that involves diffuse loss of hair over the whole scalp.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Alopecia_areata

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.
created_by: lschriml
creation_date: 2011-08-24T02:53:03Z
has_obo_namespace: disease_ontology
id: DOID:0060158
in_subset: DO_MGI_slim

Axiom
annotated source: acquired metabolic disease
annotated property: definition
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.
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

organic acidemia
type: Class
subclass of: DOID 9252
definition: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
created_by: lschriml
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

Axiom
annotated source: organic acidemia
annotated property: definition
annotated target: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Aciduria

childhood spinal muscular atrophy
type: Class
subclass of: DOID_12377
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.
created_by: lschriml
creation_date: 2011-08-29T01:15:14Z
database_cross_reference: GARD:7674
database_cross_reference: MESH:D014897
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: NCIthesaurus

Axiom
annotated source: childhood spinal muscular atrophy
annotated property: definition
annotated target: A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy

Kennedy's disease
type: Class
subclass of: DOID_0080012
subclass of: DOID_12377
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
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.
created_by: lschriml
creation_date: 2011-08-29T01:31:03Z
database_cross_reference: GARD:6818
database_cross_reference: MESH:D055534
database_cross_reference: NCI:C85233
database_cross_reference: OMIM:313200
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus

Axiom
annotated source: Kennedy's disease
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Kennedy_disease

dentatorubral-pallidoluysian atrophy
type: Class
subclass of: DOID 1441
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.
created_by: lschriml
creation_date: 2011-08-29T01:41:48Z
database_cross_reference: GARD:5643
database_cross_reference: MESH:D020191
database_cross_reference: NCI:C122653
database_cross_reference: OMIM:125370
database_cross_reference: SNOMEDCT_US_2022_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: NCIthesaurus

Axiom
annotated source: dentatorubral-pallidoluysian atrophy
annotated property: definition
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.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy

body dysmorphic disorder
type: Class
subclass of: DOID 4737
definition: A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
created_by: lschriml
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

Axiom
annotated source: body dysmorphic disorder
annotated property: definition
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).
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Body_dysmorphic_disorder

pain disorder
type: Class
subclass of: DOID 4737
definition: A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
created_by: lschriml
creation_date: 2011-09-07T01:42:46Z
has_obo_namespace: disease_ontology
id: DOID:0060164

Axiom
annotated source: pain disorder
annotated property: definition
annotated target: A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Pain_disorder

Kleine-Levin syndrome
type: Class
subclass of: DOID 8619
definition: A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
created_by: lschriml
creation_date: 2011-09-07T02:46:02Z
database_cross_reference: MESH:D017593
database_cross_reference: OMIM:148840
has_obo_namespace: disease_ontology
id: DOID:0060165

Axiom
annotated source: Kleine-Levin syndrome
annotated property: definition
annotated target: A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Kleine-Levin_syndrome

bipolar ll disorder
type: Class
subclass of: DOID 3312
definition: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
created_by: lschriml
creation_date: 2011-09-09T02:27:46Z
has_obo_namespace: disease_ontology
id: DOID:0060166

Axiom
annotated source: bipolar ll disorder
annotated property: definition
annotated target: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Bipolar_II

seasonal affective disorder
type: Class
subclass of: DOID 1596
definition: A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
created_by: lschriml
creation_date: 2011-09-09T02:53:18Z
database_cross_reference: MESH:D016574
has_exact_synonym: winter depression
has_obo_namespace: disease_ontology
id: DOID:0060167

Axiom
annotated source: seasonal affective disorder
annotated property: definition
annotated target: A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Seasonal_affective_disorder

histidinemia
type: Class
subclass of: DOID 9265
definition: A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
created_by: lschriml
creation_date: 2011-09-20T12:47:05Z
database_cross_reference: GARD:6661
database_cross_reference: MESH:C538320
database_cross_reference: OMIM:235800
has_exact_synonym: histidinuria
has_obo_namespace: disease_ontology
id: DOID:0060168

Axiom
annotated source: histidinemia
annotated property: definition
annotated target: A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Histidinemia
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/histidinemia

benign familial infantile epilepsy
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 afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae.
created_by: lschriml
creation_date: 2011-10-28T02:55:02Z
database_cross_reference: GARD:1518
database_cross_reference: GARD:857
database_cross_reference: OMIM:PS601764
database_cross_reference: ORDO:306
has_exact_synonym: BFIC
has_exact_synonym: BFIE
has_exact_synonym: benign familial infantile convulsion
has_exact_synonym: benign familial infantile seizures
has_obo_namespace: disease_ontology
id: DOID:0060169
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: benign familial infantile epilepsy
annotated property: definition
annotated target: An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12503648

generalized epilepsy with febrile seizures plus
type: Class
subclass of: DOID 1827
definition: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
created_by: lschriml
creation_date: 2011-10-28T02:57:50Z
database_cross_reference: ICD10CM:G40.3
database_cross_reference: MESH:C565808
database_cross_reference: ORDO:36387
has_exact_synonym: GEFS+
has_obo_namespace: disease_ontology
id: DOID:0060170
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: generalized epilepsy with febrile seizures plus
annotated property: definition
annotated target: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22011963

obsolete Dravet syndrome
type: Class
created_by: lschriml
creation_date: 2011-10-28T03:14:46Z
has_obo_namespace: disease_ontology
id: DOID:0060171
owl:deprecated: true

juvenile absence epilepsy
type: Class
subclass of: adolescence-adult electroclinical syndrome
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011462
definition: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
created_by: lschriml
creation_date: 2011-11-08T10:42:18Z
has_obo_namespace: disease_ontology
id: DOID:0060172
comment: JA:Epilepsy Genetics Kiel

Axiom
annotated source: juvenile absence epilepsy
annotated property: definition
annotated target: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/27986418

Timothy syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
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_0012759
definition: A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.
created_by: lschriml
creation_date: 2011-11-08T12:52:33Z
has_alternative_id: DOID:0110649
database_cross_reference: ICD10CM:G72.3
database_cross_reference: MESH:C536962
database_cross_reference: OMIM:601005
database_cross_reference: ORDO:65283
database_cross_reference: ORDO:768
has_obo_namespace: disease_ontology
id: DOID:0060173

Axiom
annotated source: Timothy syndrome
annotated property: definition
annotated target: A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.
dc:type: ECO_0007637
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1403/
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/timothy-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15863612

GABA aminotransferase deficiency
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
definition: A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
created_by: lschriml
creation_date: 2011-11-08T01:52:22Z
database_cross_reference: OMIM:613163
has_exact_synonym: Gamma-amino butyric acid transaminase deficiency
has_exact_synonym: gamma-aminobutyric acid transaminase deficiency
has_obo_namespace: disease_ontology
id: DOID:0060174

Axiom
annotated source: GABA aminotransferase deficiency
annotated property: definition
annotated target: A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms

succinic semialdehyde dehydrogenase deficiency
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
definition: A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
created_by: lschriml
creation_date: 2011-11-08T02:02:12Z
database_cross_reference: MESH:C535803
database_cross_reference: OMIM:271980
has_exact_synonym: 4-hydroxybutyric aciduria
has_exact_synonym: SSADH
has_exact_synonym: gamma-hydroxybutyric aciduria
has_obo_namespace: disease_ontology
id: DOID:0060175

Axiom
annotated source: succinic semialdehyde dehydrogenase deficiency
annotated property: definition
annotated target: A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism

gamma-amino butyric acid metabolism disorder
type: Class
subclass of: DOID 9252
definition: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
created_by: lschriml
creation_date: 2011-11-08T02:02:12Z
has_obo_namespace: disease_ontology
id: DOID:0060176

Axiom
annotated source: gamma-amino butyric acid metabolism disorder
annotated property: definition
annotated target: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12891648

homocarnosinosis
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
subclass of: DOID 936
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000955
definition: A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
created_by: lschriml
creation_date: 2011-11-08T02:02:12Z
database_cross_reference: GARD:2730
database_cross_reference: MESH:C535328
has_obo_namespace: disease_ontology
id: DOID:0060177

Axiom
annotated source: homocarnosinosis
annotated property: definition
annotated target: A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carnosinemia
database_cross_reference: url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf

familial hemiplegic migraine
type: Class
subclass of: DOID_10024
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_0000094
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000293
definition: A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
created_by: lschriml
creation_date: 2011-11-08T02:54:32Z
database_cross_reference: GARD:10975
database_cross_reference: ICD10CM:G43.8
database_cross_reference: ICD9CM:346.8
database_cross_reference: ORDO:569
database_cross_reference: SNOMEDCT_US_2022_09_01:193037008
database_cross_reference: UMLS_CUI:C0477373
has_obo_namespace: disease_ontology
id: DOID:0060178
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: familial hemiplegic migraine
annotated property: definition
annotated target: A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine

Renpenning syndrome
type: Class
subclass of: syndromic X-linked intellectual disability
subclass of: DOID_0080012
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_0000568
definition: An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
created_by: lschriml
creation_date: 2011-11-08T03:21:30Z
database_cross_reference: ICD10CM:Q87.5
database_cross_reference: OMIM:309500
database_cross_reference: ORDO:3242
has_exact_synonym: Golabi-Ito-Hall syndrome
has_exact_synonym: Sutherland-Haan X-linked mental retardation syndrome
has_exact_synonym: X-linked intellectual disability due to PQBP1 mutations
has_exact_synonym: X-linked intellectual disability, Renpenning type
has_exact_synonym: X-linked mental retardation Renpenning type
has_exact_synonym: X-linked mental retardation with spastic diplegia
has_exact_synonym: syndromic X-linked mental retardation 8
has_obo_namespace: disease_ontology
id: DOID:0060179
in_subset: DO_FlyBase_slim

Axiom
annotated source: Renpenning syndrome
annotated property: definition
annotated target: An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome

colitis
type: Class
subclass of: inflammatory bowel disease
definition: An inflammatory bowel disease that involves inflammation located_in colon.
created_by: emitraka
creation_date: 2014-09-12T14:31:45Z
database_cross_reference: EFO:0003872
database_cross_reference: ICD10CM:K52.9
database_cross_reference: MESH:D003092
database_cross_reference: NCI:C26723
database_cross_reference: SNOMEDCT_US_2022_09_01:64226004
database_cross_reference: UMLS_CUI:C0009319
has_obo_namespace: disease_ontology
id: DOID:0060180
in_subset: NCIthesaurus

Axiom
annotated source: colitis
annotated property: definition
annotated target: An inflammatory bowel disease that involves inflammation located_in colon.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Colitis

ischemic colitis
type: Class
subclass of: colitis
definition: A colitis caused_by inadequate blood supply to the colon.
created_by: emitraka
creation_date: 2014-09-12T14:36:51Z
database_cross_reference: ICD10CM:K55.9
database_cross_reference: MESH:D017091
database_cross_reference: SNOMEDCT_US_2022_09_01:30588004
database_cross_reference: UMLS_CUI:C0162529
has_obo_namespace: disease_ontology
id: DOID:0060181

Axiom
annotated source: ischemic colitis
annotated property: definition
annotated target: A colitis caused_by inadequate blood supply to the colon.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ischemic_colitis
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677

microscopic colitis
type: Class
subclass of: colitis
definition: A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
created_by: emitraka
creation_date: 2014-09-12T14:49:18Z
database_cross_reference: ICD10CM:K52.83
database_cross_reference: MESH:D046728
database_cross_reference: NCI:C38504
database_cross_reference: ORDO:58220
database_cross_reference: SNOMEDCT_US_2022_09_01:235753003
database_cross_reference: UMLS_CUI:C0400821
has_obo_namespace: disease_ontology
id: DOID:0060182
in_subset: NCIthesaurus

Axiom
annotated source: microscopic colitis
annotated property: definition
annotated target: A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Microscopic_colitis
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232
database_cross_reference: url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis

collagenous colitis
type: Class
subclass of: microscopic colitis
definition: A colitis characterized by a distinctive thickening of the subepithelial collagen table.
created_by: emitraka
creation_date: 2014-09-12T14:56:28Z
database_cross_reference: GARD:6135
database_cross_reference: ICD10CM:K52.831
database_cross_reference: MEDDRA:10048928
database_cross_reference: MESH:D046729
database_cross_reference: NCI:C27021
database_cross_reference: SNOMEDCT_US_2022_09_01:19311003
database_cross_reference: UMLS_CUI:C0238067
has_obo_namespace: disease_ontology
id: DOID:0060183
in_subset: NCIthesaurus
comment: Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy.

Axiom
annotated source: collagenous colitis
annotated property: definition
annotated target: A colitis characterized by a distinctive thickening of the subepithelial collagen table.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Collagenous_colitis
database_cross_reference: url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts

lymphocytic colitis
type: Class
subclass of: microscopic colitis
definition: A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
created_by: emitraka
creation_date: 2014-09-12T14:58:50Z
database_cross_reference: GARD:6939
database_cross_reference: ICD10CM:K52.832
database_cross_reference: MEDDRA:10025268
database_cross_reference: MESH:D046730
database_cross_reference: NCI:C27147
database_cross_reference: ORDO:65279
database_cross_reference: SNOMEDCT_US_2022_09_01:31437008
database_cross_reference: UMLS_CUI:C0400822
has_obo_namespace: disease_ontology
id: DOID:0060184
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally.

Axiom
annotated source: lymphocytic colitis
annotated property: definition
annotated target: A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lymphocytic_colitis
database_cross_reference: url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts

Clostridium difficile colitis
type: Class
subclass of: colitis
definition: A colitis characterized by an overgrowth of Clostridium difficile bacteria.
created_by: emitraka
creation_date: 2014-09-12T15:01:17Z
database_cross_reference: ICD10CM:A04.7
database_cross_reference: MEDDRA:10009657
database_cross_reference: MESH:D004761
database_cross_reference: NCI:C128347
database_cross_reference: SNOMEDCT_US_2022_09_01:266525002
database_cross_reference: SNOMEDCT_US_2022_09_01:397683000
database_cross_reference: SNOMEDCT_US_2022_09_01:51180003
database_cross_reference: UMLS_CUI:C0014358
database_cross_reference: UMLS_CUI:C0085819
database_cross_reference: UMLS_CUI:C1257843
database_cross_reference: UMLS_CUI:C1257844
database_cross_reference: UMLS_CUI:C1257845
has_exact_synonym: Pseudomembranous colitis
has_obo_namespace: disease_ontology
id: DOID:0060185
in_subset: NCIthesaurus

Axiom
annotated source: Clostridium difficile colitis
annotated property: definition
annotated target: A colitis characterized by an overgrowth of Clostridium difficile bacteria.
dc:type: ECO_0007638
dc:type: ECO_0007640
database_cross_reference: url:http://en.wikipedia.org/wiki/Clostridium_difficile_colitis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm

chemical colitis
type: Class
subclass of: colitis
definition: A colitis caused_by introduction of various chemicals.
created_by: emitraka
creation_date: 2014-09-12T15:08:50Z
database_cross_reference: ICD10CM:K52
database_cross_reference: ICD9CM:558
database_cross_reference: UMLS_CUI:C0029512
has_obo_namespace: disease_ontology
id: DOID:0060186

Axiom
annotated source: chemical colitis
annotated property: definition
annotated target: A colitis caused_by introduction of various chemicals.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Chemical_colitis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18209577

diversion colitis
type: Class
subclass of: colitis
definition: A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
created_by: emitraka
creation_date: 2014-09-12T15:14:29Z
database_cross_reference: ICD10CM:K52
database_cross_reference: ICD9CM:558
database_cross_reference: UMLS_CUI:C0029512
has_obo_namespace: disease_ontology
id: DOID:0060187

Axiom
annotated source: diversion colitis
annotated property: definition
annotated target: A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Diversion_colitis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1916483

jejunoileitis
type: Class
subclass of: DOID 8778
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000001
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_0000689
definition: An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
created_by: emitraka
creation_date: 2014-09-15T10:51:02Z
database_cross_reference: ICD10CM:K50.0
has_obo_namespace: disease_ontology
id: DOID:0060188

Axiom
annotated source: jejunoileitis
annotated property: definition
annotated target: An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Crohn%27s_disease
database_cross_reference: url:https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15973125

ileitis
type: Class
subclass of: DOID 8778
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000178
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000546
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002116
definition: An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
created_by: emitraka
creation_date: 2014-09-15T11:40:07Z
database_cross_reference: ICD10CM:K52.9
database_cross_reference: MEDDRA:10021312
database_cross_reference: MESH:D007079
database_cross_reference: NCI:C84782
database_cross_reference: SNOMEDCT_US_2022_09_01:52457000
database_cross_reference: UMLS_CUI:C0020877
has_exact_synonym: Crohn's ileitis
has_obo_namespace: disease_ontology
id: DOID:0060189
in_subset: NCIthesaurus

Axiom
annotated source: ileitis
annotated property: definition
annotated target: An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ileitis
database_cross_reference: url:https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview

ileocolitis
type: Class
subclass of: DOID 8778
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_0000546
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002116
definition: An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
created_by: emitraka
creation_date: 2014-09-15T12:22:19Z
database_cross_reference: ICD10CM:K52.9
database_cross_reference: MEDDRA:10062647
has_obo_namespace: disease_ontology
id: DOID:0060190
comment: OWL classification.

Axiom
annotated source: ileocolitis
annotated property: definition
annotated target: An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
dc:type: ECO_0007637
database_cross_reference: url:https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview

gastroduodenal Crohn's disease
type: Class
subclass of: DOID 8778
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_0000309
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000458
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0019145
subclass of: Restriction
  on property: RO_0004029
  some values from: DOID 8643
definition: An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
created_by: emitraka
creation_date: 2014-09-15T12:35:28Z
database_cross_reference: ICD10CM:K50.0
has_exact_synonym: upper GI Crohn's disease
has_obo_namespace: disease_ontology
id: DOID:0060191

Axiom
annotated source: gastroduodenal Crohn's disease
annotated property: definition
annotated target: An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Crohn%27s_disease
database_cross_reference: url:https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12769447

Crohn's colitis
type: Class
subclass of: DOID 8778
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000007
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000092
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000672
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0020002
subclass of: Restriction
  on property: RO_0004029
  some values from: anal fistula
subclass of: Restriction
  on property: RO_0004029
  some values from: DOID_13662
definition: An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
created_by: emitraka
creation_date: 2014-09-15T12:50:24Z
database_cross_reference: ICD10CM:K50.1
database_cross_reference: ICD9CM:555.1
database_cross_reference: MESH:D003424
database_cross_reference: NCI:C37262
database_cross_reference: SNOMEDCT_US_2022_09_01:7620006
database_cross_reference: UMLS_CUI:C0156147
has_obo_namespace: disease_ontology
id: DOID:0060192
in_subset: NCIthesaurus
comment: OWL classification.

Axiom
annotated source: Crohn's colitis
annotated property: definition
annotated target: An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Crohn%27s_disease
database_cross_reference: url:https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview

amyotrophic lateral sclerosis type 1
type: Class
subclass of: DOID 332
definition: The most common type of familial ALS that has_material_basis_in mutation in the SOD1 gene on chromosome 21.
created_by: emitraka
creation_date: 2014-09-16T13:04:32Z
database_cross_reference: ICD10CM:G12.2
database_cross_reference: OMIM:105400
has_exact_synonym: ALS1
has_exact_synonym: amyotrophic lateral sclerosis 1
has_obo_namespace: disease_ontology
id: DOID:0060193

Axiom
annotated source: amyotrophic lateral sclerosis type 1
annotated property: definition
annotated target: The most common type of familial ALS that has_material_basis_in mutation in the SOD1 gene on chromosome 21.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis

amyotrophic lateral sclerosis type 2
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2.
created_by: emitraka
creation_date: 2014-09-16T13:12:14Z
database_cross_reference: GARD:9470
database_cross_reference: ICD10CM:G12.2
database_cross_reference: OMIM:205100
has_exact_synonym: ALS2
has_exact_synonym: amyotrophic lateral sclerosis 2
has_exact_synonym: amyotrophic lateral sclerosis 2, juvenile
has_obo_namespace: disease_ontology
id: DOID:0060194

Axiom
annotated source: amyotrophic lateral sclerosis type 2
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2.
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/205100

amyotrophic lateral sclerosis type 3
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18.
created_by: emitraka
creation_date: 2014-09-16T13:18:38Z
database_cross_reference: GARD:10501
database_cross_reference: OMIM:606640
has_exact_synonym: amyotrophic lateral sclerosis 3
has_obo_namespace: disease_ontology
has_related_synonym: ALS3
id: DOID:0060195

Axiom
annotated source: amyotrophic lateral sclerosis type 3
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18.
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/606640

Axiom
annotated source: amyotrophic lateral sclerosis type 3
annotated property: has_related_synonym
annotated target: ALS3
database_cross_reference: OMIM:606640

amyotrophic lateral sclerosis type 4
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
created_by: emitraka
creation_date: 2014-09-16T13:49:59Z
database_cross_reference: GARD:10502
database_cross_reference: ICD10CM:G12.2
database_cross_reference: OMIM:602433
database_cross_reference: ORDO:357043
has_exact_synonym: ALS 4
has_exact_synonym: amyotrophic lateral sclerosis 4
has_exact_synonym: amyotrophic lateral sclerosis 4, juvenile
has_exact_synonym: dHMN with upper motor neuron signs
has_exact_synonym: distal hereditary motor neuropathy with pyramidal features
has_exact_synonym: distal hereditary motor neuropathy with upper motor neuron signs
has_obo_namespace: disease_ontology
id: DOID:0060196
in_subset: DO_rare_slim

Axiom
annotated source: amyotrophic lateral sclerosis type 4
annotated property: definition
annotated target: An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
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/602433

amyotrophic lateral sclerosis type 5
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
created_by: emitraka
creation_date: 2014-09-16T14:17:01Z
database_cross_reference: GARD:10503
database_cross_reference: OMIM:602099
has_exact_synonym: ALS5
has_exact_synonym: amyotrophic lateral sclerosis 5
has_obo_namespace: disease_ontology
id: DOID:0060197

Axiom
annotated source: amyotrophic lateral sclerosis type 5
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
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/602099

amyotrophic lateral sclerosis type 6
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
created_by: emitraka
creation_date: 2014-09-16T14:21:07Z
database_cross_reference: GARD:9874
database_cross_reference: OMIM:608030
has_exact_synonym: ALS6
has_exact_synonym: amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
has_exact_synonym: autosomal recessive amyotrophic lateral sclerosis 6
has_obo_namespace: disease_ontology
id: DOID:0060198

Axiom
annotated source: amyotrophic lateral sclerosis type 6
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
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/608030

amyotrophic lateral sclerosis type 7
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20.
created_by: emitraka
creation_date: 2014-09-16T14:28:41Z
database_cross_reference: GARD:10500
database_cross_reference: OMIM:608031
has_exact_synonym: ALS7
has_exact_synonym: amyotrophic lateral sclerosis 7
has_obo_namespace: disease_ontology
id: DOID:0060199

Axiom
annotated source: amyotrophic lateral sclerosis type 7
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20.
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/608031

amyotrophic lateral sclerosis type 9
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.
created_by: emitraka
creation_date: 2014-09-16T14:33:09Z
database_cross_reference: GARD:10498
database_cross_reference: OMIM:611895
has_exact_synonym: ALS9
has_exact_synonym: amyotrophic lateral sclerosis 9
has_obo_namespace: disease_ontology
id: DOID:0060200

Axiom
annotated source: amyotrophic lateral sclerosis type 9
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.
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/611895

amyotrophic lateral sclerosis type 10
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
created_by: emitraka
creation_date: 2014-09-16T14:36:54Z
database_cross_reference: GARD:10497
database_cross_reference: OMIM:612069
has_exact_synonym: ALS10
has_exact_synonym: TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
has_exact_synonym: amyotrophic lateral sclerosis 10
has_exact_synonym: amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
has_obo_namespace: disease_ontology
id: DOID:0060201

Axiom
annotated source: amyotrophic lateral sclerosis type 10
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
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/612069

amyotrophic lateral sclerosis type 11
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
created_by: emitraka
creation_date: 2014-09-16T14:49:07Z
database_cross_reference: GARD:10496
database_cross_reference: OMIM:612577
has_exact_synonym: ALS11
has_exact_synonym: amyotrophic lateral sclerosis 11
has_obo_namespace: disease_ontology
id: DOID:0060202

Axiom
annotated source: amyotrophic lateral sclerosis type 11
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
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/612577

amyotrophic lateral sclerosis type 12
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.
created_by: emitraka
creation_date: 2014-09-16T14:53:12Z
database_cross_reference: OMIM:613435
has_exact_synonym: ALS12
has_exact_synonym: amyotrophic lateral sclerosis 12
has_obo_namespace: disease_ontology
id: DOID:0060203

Axiom
annotated source: amyotrophic lateral sclerosis type 12
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.
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/613435

amyotrophic lateral sclerosis type 13
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility.
created_by: emitraka
creation_date: 2014-09-16T14:56:08Z
has_exact_synonym: ALS13
has_exact_synonym: amyotrophic lateral sclerosis 13
has_obo_namespace: disease_ontology
id: DOID:0060204
comment: An association between 29 or more CAG repeats and the development of ALS13 exists.

Axiom
annotated source: amyotrophic lateral sclerosis type 13
annotated property: definition
annotated target: An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility.
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/183090

amyotrophic lateral sclerosis type 14
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9.
created_by: emitraka
creation_date: 2014-09-16T15:02:22Z
database_cross_reference: OMIM:613954
has_exact_synonym: ALS14
has_exact_synonym: amyotrophic lateral sclerosis 14
has_exact_synonym: amyotrophic lateral sclerosis, with or without frontotemporal dementia
has_obo_namespace: disease_ontology
id: DOID:0060205

Axiom
annotated source: amyotrophic lateral sclerosis type 14
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9.
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/613954

amyotrophic lateral sclerosis type 15
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X.
created_by: emitraka
creation_date: 2014-09-16T15:12:48Z
database_cross_reference: OMIM:300857
has_exact_synonym: ALS15
has_exact_synonym: amyotrophic lateral sclerosis 15
has_exact_synonym: amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
has_obo_namespace: disease_ontology
id: DOID:0060206
comment: Described in one family only.

Axiom
annotated source: amyotrophic lateral sclerosis type 15
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X.
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/300857

amyotrophic lateral sclerosis type 16
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.
created_by: emitraka
creation_date: 2014-09-16T15:17:01Z
database_cross_reference: OMIM:614373
has_exact_synonym: ALS16
has_exact_synonym: amyotrophic lateral sclerosis 16
has_obo_namespace: disease_ontology
has_related_synonym: amyotrophic lateral sclerosis 16, juvenile
id: DOID:0060207

Axiom
annotated source: amyotrophic lateral sclerosis type 16
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.
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/614373

Axiom
annotated source: amyotrophic lateral sclerosis type 16
annotated property: has_related_synonym
annotated target: amyotrophic lateral sclerosis 16, juvenile
database_cross_reference: OMIM:614373

obsolete amyotrophic lateral sclerosis type 17
type: Class
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3.
created_by: emitraka
creation_date: 2014-09-16T15:20:50Z
has_obo_namespace: disease_ontology
id: DOID:0060208
owl:deprecated: true

Axiom
annotated source: obsolete amyotrophic lateral sclerosis type 17
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3.
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis

amyotrophic lateral sclerosis type 18
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.
created_by: emitraka
creation_date: 2014-09-16T15:24:08Z
database_cross_reference: OMIM:614808
has_exact_synonym: ALS18
has_exact_synonym: amyotrophic lateral sclerosis 18
has_obo_namespace: disease_ontology
id: DOID:0060209

Axiom
annotated source: amyotrophic lateral sclerosis type 18
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.
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/614808

amyotrophic lateral sclerosis type 19
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2.
created_by: emitraka
creation_date: 2014-09-16T15:30:22Z
database_cross_reference: OMIM:615515
has_exact_synonym: ALS19
has_exact_synonym: amyotrophic lateral sclerosis 19
has_obo_namespace: disease_ontology
id: DOID:0060210

Axiom
annotated source: amyotrophic lateral sclerosis type 19
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2.
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/615515

amyotrophic lateral sclerosis type 20
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12.
created_by: emitraka
creation_date: 2014-09-16T15:34:12Z
database_cross_reference: OMIM:615426
has_exact_synonym: ALS20
has_exact_synonym: amyotrophic lateral sclerosis 20
has_obo_namespace: disease_ontology
id: DOID:0060211

Axiom
annotated source: amyotrophic lateral sclerosis type 20
annotated property: definition
annotated target: An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12.
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/615426

amyotrophic lateral sclerosis type 21
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5.
created_by: emitraka
creation_date: 2014-09-16T16:06:31Z
database_cross_reference: OMIM:606070
has_exact_synonym: ALS21
has_obo_namespace: disease_ontology
id: DOID:0060212

Axiom
annotated source: amyotrophic lateral sclerosis type 21
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/606070

frontotemporal dementia and/or amyotrophic lateral sclerosis-1
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
created_by: emitraka
creation_date: 2014-09-16T16:36:24Z
database_cross_reference: OMIM:105550
has_exact_synonym: ALSFTD
has_exact_synonym: FTDALS1
has_exact_synonym: FTDMND
has_exact_synonym: amyotrophic lateral sclerosis and/or frontotemporal dementia
has_exact_synonym: frontotemporal dementia and/or amyotrophic lateral sclerosis 1
has_exact_synonym: frontotemporal dementia and/or motor neuron disease
has_obo_namespace: disease_ontology
id: DOID:0060213

Axiom
annotated source: frontotemporal dementia and/or amyotrophic lateral sclerosis-1
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/105550

frontotemporal dementia and/or amyotrophic lateral sclerosis-2
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
created_by: emitraka
creation_date: 2014-09-16T16:44:08Z
database_cross_reference: OMIM:615911
has_exact_synonym: FTDALS2
has_exact_synonym: frontotemporal dementia and/or amyotrophic lateral sclerosis 2
has_obo_namespace: disease_ontology
id: DOID:0060214

Axiom
annotated source: frontotemporal dementia and/or amyotrophic lateral sclerosis-2
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/615911
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24934289

Balo concentric sclerosis
type: Class
subclass of: DOID 2377
definition: A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
created_by: emitraka
creation_date: 2014-09-18T15:02:17Z
database_cross_reference: GARD:5885
database_cross_reference: ICD10CM:G37.0
database_cross_reference: ICD9CM:341.1
database_cross_reference: MESH:D002549
database_cross_reference: NCI:C84670
database_cross_reference: SNOMEDCT_US_2022_09_01:44875002
database_cross_reference: UMLS_CUI:C0007795
has_exact_synonym: Balo disease
has_exact_synonym: Balo's concentric sclerosis
has_exact_synonym: Tumefactive multiple sclerosis
has_obo_namespace: disease_ontology
id: DOID:0060215
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: Similar to standard multiple sclerosis.

Axiom
annotated source: Balo concentric sclerosis
annotated property: definition
annotated target: A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/32140322/
database_cross_reference: url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/

Cogan syndrome
type: Class
subclass of: DOID 5614
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 eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
created_by: emitraka
creation_date: 2014-09-22T16:29:20Z
database_cross_reference: GARD:1421
database_cross_reference: ICD10CM:H16.32
database_cross_reference: MESH:D055952
database_cross_reference: ORDO:1467
database_cross_reference: SNOMEDCT_US_2022_09_01:231906002
database_cross_reference: UMLS_CUI:C0271270
has_exact_synonym: Cogan's syndrome
has_exact_synonym: diffuse interstitual keratitis
has_obo_namespace: disease_ontology
id: DOID:0060216
in_subset: DO_rare_slim
comment: OWL also bilateral audiovestibular deficits.

Axiom
annotated source: Cogan syndrome
annotated property: definition
annotated target: An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cogan_syndrome

Cogan-Reese syndrome
type: Class
subclass of: DOID 5614
definition: An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
created_by: emitraka
creation_date: 2014-09-23T12:31:25Z
database_cross_reference: GARD:6125
database_cross_reference: MEDDRA:10059200
database_cross_reference: NCI:C84644
database_cross_reference: ORDO:98980
database_cross_reference: SNOMEDCT_US_2022_09_01:129624009
database_cross_reference: UMLS_CUI:C1168173
has_obo_namespace: disease_ontology
id: DOID:0060217
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Cogan-Reese syndrome
annotated property: definition
annotated target: An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1

CREST syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
created_by: emitraka
creation_date: 2014-09-24T16:30:36Z
database_cross_reference: GARD:12430
database_cross_reference: ICD10CM:M34.1
database_cross_reference: MESH:D017675
database_cross_reference: NCI:C70646
database_cross_reference: SNOMEDCT_US_2022_09_01:31848007
database_cross_reference: SNOMEDCT_US_2022_09_01:62382002
database_cross_reference: UMLS_CUI:C0206138
database_cross_reference: UMLS_CUI:C1527226
has_obo_namespace: disease_ontology
id: DOID:0060218
in_subset: NCIthesaurus

Axiom
annotated source: CREST syndrome
annotated property: definition
annotated target: A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/CREST_syndrome

lymph node adenoid cystic carcinoma
type: Class
subclass of: DOID_0080618
definition: A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
created_by: emitraka
creation_date: 2014-11-05T09:11:16Z
has_exact_synonym: lymph node adenoid cystic cancer
has_obo_namespace: disease_ontology
id: DOID:0060219
in_subset: DO_cancer_slim

Axiom
annotated source: lymph node adenoid cystic carcinoma
annotated property: definition
annotated target: A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/

physical urticaria
type: Class
subclass of: DOID 1555
definition: An urticaria induced by external physical influences.
created_by: emitraka
creation_date: 2014-11-21T15:51:38Z
has_obo_namespace: disease_ontology
id: DOID:0060220
comment: WD correction.

Axiom
annotated source: physical urticaria
annotated property: definition
annotated target: An urticaria induced by external physical influences.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Physical_urticaria
database_cross_reference: url:http://www.dermnetnz.org/reactions/urticaria.html

Maffucci syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
created_by: emitraka
creation_date: 2014-11-26T11:16:24Z
database_cross_reference: GARD:6958
database_cross_reference: ICD10CM:Q78.4
database_cross_reference: OMIM:614569
database_cross_reference: ORDO:163634
has_obo_namespace: disease_ontology
id: DOID:0060221
in_subset: DO_rare_slim
comment: WD former synonym.

Axiom
annotated source: Maffucci syndrome
annotated property: definition
annotated target: A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Maffucci_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/maffucci-syndrome

Scheie syndrome
type: Class
subclass of: DOID_12802
definition: A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
created_by: emitraka
creation_date: 2014-11-26T11:32:20Z
database_cross_reference: GARD:12561
database_cross_reference: ICD10CM:E76.0
database_cross_reference: OMIM:607016
database_cross_reference: ORDO:93474
has_exact_synonym: mucopolysaccharidosis type 1S
has_exact_synonym: mucopolysaccharidosis type IS
has_exact_synonym: mucopolysaccharidosis type V
has_obo_namespace: disease_ontology
id: DOID:0060222
in_subset: DO_rare_slim
comment: WD former synonym.

Axiom
annotated source: Scheie syndrome
annotated property: definition
annotated target: A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Scheie_syndrome

agraphia
type: Class
subclass of: writing disorder
definition: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
created_by: emitraka
creation_date: 2014-11-26T11:44:01Z
database_cross_reference: ICD10CM:R48.8
database_cross_reference: MESH:D000381
has_obo_namespace: disease_ontology
id: DOID:0060223

Axiom
annotated source: agraphia
annotated property: definition
annotated target: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Agraphia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21507544

atrial fibrillation
type: Class
subclass of: DOID_10273
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.
created_by: emitraka
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_2022_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
annotated source: atrial fibrillation
annotated property: definition
annotated target: 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.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Atrial_fibrillation
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014
database_cross_reference: url:http://www.nhlbi.nih.gov/health/health-topics/topics/af

3MC syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
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_0000369
definition: A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
created_by: emitraka
creation_date: 2015-01-16T15:08:40Z
database_cross_reference: GARD:1118
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: OMIM:PS257920
database_cross_reference: ORDO:293843
has_exact_synonym: craniofacial-ulnar-renal syndrome
has_exact_synonym: oculopalatoskeletal syndrome
has_obo_namespace: disease_ontology
id: DOID:0060225
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: 3MC syndrome
annotated property: definition
annotated target: A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16096999

acrofrontofacionasal dysostosis
type: Class
subclass of: DOID 1934
definition: A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
created_by: emitraka
creation_date: 2015-01-16T15:39:56Z
database_cross_reference: MESH:C538186
database_cross_reference: OMIM:201180
database_cross_reference: OMIM:239710
database_cross_reference: ORDO:1784
database_cross_reference: SNOMEDCT_US_2022_09_01:720408003
database_cross_reference: UMLS_CUI:C1860118
has_exact_synonym: AFFN dysostosis
has_exact_synonym: Richieri-Costa-Colletto syndrome
has_obo_namespace: disease_ontology
id: DOID:0060226
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: acrofrontofacionasal dysostosis
annotated property: definition
annotated target: A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2986457

Adams-Oliver syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
created_by: emitraka
creation_date: 2015-01-16T15:48:40Z
database_cross_reference: GARD:5739
database_cross_reference: OMIM:100300
database_cross_reference: OMIM:614219
database_cross_reference: OMIM:614814
database_cross_reference: OMIM:615297
database_cross_reference: OMIM:616028
database_cross_reference: OMIM:PS100300
database_cross_reference: ORDO:974
database_cross_reference: SNOMEDCT_US_2022_09_01:34748004
database_cross_reference: UMLS_CUI:C0265268
has_exact_synonym: Adams Oliver syndrome
has_obo_namespace: disease_ontology
id: DOID:0060227
comment: Xref MGI.

Axiom
annotated source: Adams-Oliver syndrome
annotated property: definition
annotated target: A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18000904
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract

intracranial berry aneurysm
type: Class
subclass of: DOID_10941
definition: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
created_by: emitraka
creation_date: 2015-01-16T16:24:39Z
database_cross_reference: OMIM:PS105800
database_cross_reference: ORDO:231160
has_exact_synonym: familial aneurysmal subarachnoid hemorrhage
has_exact_synonym: familial berry aneurysm
has_exact_synonym: familial intracranial saccular aneurysm
has_exact_synonym: saccular cerebral aneurysm
has_obo_namespace: disease_ontology
id: DOID:0060228
in_subset: DO_rare_slim
comment: Xref MGI.

Axiom
annotated source: intracranial berry aneurysm
annotated property: definition
annotated target: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms
database_cross_reference: url:http://radiopaedia.org/articles/saccular-cerebral-aneurysm

Baraitser-Winter syndrome
type: Class
subclass of: DOID 225
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000369
definition: A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
created_by: emitraka
creation_date: 2015-01-16T16:52:25Z
database_cross_reference: GARD:5279
database_cross_reference: OMIM:PS243310
database_cross_reference: ORDO:2995
has_obo_namespace: disease_ontology
id: DOID:0060229
comment: Xref MGI.

Axiom
annotated source: Baraitser-Winter syndrome
annotated property: definition
annotated target: A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome

basal ganglia calcification
type: Class
subclass of: DOID 679
definition: A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
created_by: emitraka
creation_date: 2015-01-22T13:09:08Z
database_cross_reference: MESH:C536275
database_cross_reference: OMIM:114100
database_cross_reference: OMIM:213600
database_cross_reference: OMIM:615007
database_cross_reference: OMIM:615483
database_cross_reference: SNOMEDCT_US_2022_09_01:110997000
database_cross_reference: UMLS_CUI:C0393590
has_exact_synonym: Fahr disease
has_obo_namespace: disease_ontology
id: DOID:0060230
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: basal ganglia calcification
annotated property: definition
annotated target: A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Fahr%27s_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract

Bruck syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
created_by: emitraka
creation_date: 2015-01-23T15:12:40Z
database_cross_reference: ICD10CM:M21.8
database_cross_reference: OMIM:259450
database_cross_reference: OMIM:609220
database_cross_reference: ORDO:2771
has_exact_synonym: osteogenesis imperfecta with congenital joint contractures
has_obo_namespace: disease_ontology
id: DOID:0060231
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: Bruck syndrome
annotated property: definition
annotated target: A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Bruck_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9129737

branchiootic syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
created_by: emitraka
creation_date: 2015-01-23T15:24:02Z
database_cross_reference: GARD:10148
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MESH:C537104
database_cross_reference: OMIM:120502
database_cross_reference: OMIM:602588
database_cross_reference: OMIM:608389
database_cross_reference: ORDO:52429
has_exact_synonym: BO syndrome
has_exact_synonym: BOR
has_exact_synonym: branchiootic dysplasia
has_obo_namespace: disease_ontology
id: DOID:0060232
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: branchiootic syndrome
annotated property: definition
annotated target: A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22901925
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract

cardiofaciocutaneous syndrome
type: Class
subclass of: monogenic disease
subclass of: DOID_0080690
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000292
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
created_by: emitraka
creation_date: 2015-01-23T15:37:07Z
database_cross_reference: GARD:9146
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MESH:C535579
database_cross_reference: OMIM:PS115150
database_cross_reference: ORDO:1340
has_exact_synonym: CFC syndrome
has_exact_synonym: cardio-facial-cutaneous syndrome
has_obo_namespace: disease_ontology
id: DOID:0060233
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: cardiofaciocutaneous syndrome
annotated property: definition
annotated target: A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract

Carpenter syndrome
type: Class
subclass of: DOID_12960
definition: An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
created_by: emitraka
creation_date: 2015-01-23T16:06:03Z
database_cross_reference: GARD:6003
database_cross_reference: MESH:C563187
database_cross_reference: NCI:C98873
database_cross_reference: OMIM:201000
database_cross_reference: OMIM:614976
database_cross_reference: ORDO:65759
database_cross_reference: SNOMEDCT_US_2022_09_01:403767009
database_cross_reference: UMLS_CUI:C1275078
has_exact_synonym: acrocephalopolysyndactyly type II
has_obo_namespace: disease_ontology
id: DOID:0060234
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: Carpenter syndrome
annotated property: definition
annotated target: An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carpenter_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/carpenter-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract

carnitine palmitoyltransferase II deficiency
type: Class
subclass of: DOID 3146
definition: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
created_by: emitraka
creation_date: 2015-01-23T16:35:22Z
database_cross_reference: MESH:C535589
database_cross_reference: NCI:C114766
database_cross_reference: OMIM:255110
database_cross_reference: OMIM:600649
database_cross_reference: OMIM:608836
database_cross_reference: ORDO:157
database_cross_reference: SNOMEDCT_US_2022_09_01:238002005
database_cross_reference: UMLS_CUI:C0342790
has_exact_synonym: CPT-II
has_exact_synonym: infantile carnitine palmitoyltransferase II deficiency
has_exact_synonym: late-onset carnitine palmitoyltransferase II deficiency
has_exact_synonym: lethal neonatal carnitine palmitoyltransferase II deficiency
has_obo_namespace: disease_ontology
id: DOID:0060235
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: carnitine palmitoyltransferase II deficiency
annotated property: definition
annotated target: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency

xanthinuria
type: Class
subclass of: DOID 653
definition: A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
created_by: emitraka
creation_date: 2015-01-27T14:10:42Z
database_cross_reference: MESH:C562584
database_cross_reference: MESH:C566358
database_cross_reference: OMIM:278300
database_cross_reference: OMIM:603592
database_cross_reference: ORDO:3467
database_cross_reference: SNOMEDCT_US_2022_09_01:836343001
database_cross_reference: UMLS_CUI:C0268118
database_cross_reference: UMLS_CUI:C1863688
has_exact_synonym: xanthine dehydrogenase deficiency
has_exact_synonym: xanthine oxidase deficiency
has_obo_namespace: disease_ontology
id: DOID:0060236
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: xanthinuria
annotated property: definition
annotated target: A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Xanthinuria
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/4369449

Warburg micro syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
created_by: emitraka
creation_date: 2015-01-27T14:32:30Z
database_cross_reference: MESH:C536681
database_cross_reference: OMIM:PS600118
database_cross_reference: ORDO:2510
database_cross_reference: UMLS_CUI:C1838625
has_exact_synonym: WARBM
has_exact_synonym: Warburg-Sjo-Fledelius syndrome
has_exact_synonym: micro syndrome
has_obo_namespace: disease_ontology
id: DOID:0060237
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: Warburg micro syndrome
annotated property: definition
annotated target: A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Micro_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22768674

Van Maldergem syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
created_by: emitraka
creation_date: 2015-01-27T15:42:05Z
database_cross_reference: GARD:5456
database_cross_reference: MESH:C536530
database_cross_reference: OMIM:PS601390
database_cross_reference: ORDO:314679
database_cross_reference: SNOMEDCT_US_2022_09_01:763353000
database_cross_reference: UMLS_CUI:C1832390
has_exact_synonym: cerebro-facio-articular syndrome
has_obo_namespace: disease_ontology
id: DOID:0060238
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: Van Maldergem syndrome
annotated property: definition
annotated target: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1633641

Van der Woude syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
created_by: emitraka
creation_date: 2015-01-27T15:51:56Z
database_cross_reference: GARD:8414
database_cross_reference: ICD10CM:Q38.0
database_cross_reference: MESH:C536528
database_cross_reference: MESH:C563529
database_cross_reference: NCI:C74986
database_cross_reference: OMIM:119300
database_cross_reference: OMIM:606713
database_cross_reference: ORDO:888
database_cross_reference: SNOMEDCT_US_2022_09_01:79261008
database_cross_reference: UMLS_CUI:C0175697
database_cross_reference: UMLS_CUI:C1834339
has_obo_namespace: disease_ontology
has_related_synonym: lip-pit syndrome
id: DOID:0060239
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: Van der Woude syndrome
annotated property: definition
annotated target: A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Van_der_Woude_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome

UV-sensitive syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 37
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A skin disease characterized by photosensitivity and liver spots (solar lentigines).
created_by: emitraka
creation_date: 2015-01-27T16:00:50Z
database_cross_reference: MESH:C563466
database_cross_reference: OMIM:600630
database_cross_reference: OMIM:614621
database_cross_reference: OMIM:614640
database_cross_reference: OMIM:PS600630
database_cross_reference: ORDO:178338
has_obo_namespace: disease_ontology
id: DOID:0060240
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: UV-sensitive syndrome
annotated property: definition
annotated target: A skin disease characterized by photosensitivity and liver spots (solar lentigines).
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/UV-sensitive_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome

3-M syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
created_by: emitraka
creation_date: 2015-01-27T16:10:58Z
database_cross_reference: GARD:5667
database_cross_reference: MESH:C535314
database_cross_reference: OMIM:273750
database_cross_reference: OMIM:612921
database_cross_reference: OMIM:614205
database_cross_reference: ORDO:2616
database_cross_reference: SNOMEDCT_US_2022_09_01:702342007
database_cross_reference: UMLS_CUI:C1848862
database_cross_reference: UMLS_CUI:C3280146
has_exact_synonym: Le Merrer syndrome
has_exact_synonym: Miller-McKusick-Malvaux syndrome
has_exact_synonym: Yakut short stature syndrome
has_exact_synonym: dolichospondylic dysplasia
has_exact_synonym: gloomy face syndrome
has_exact_synonym: three M syndrome
has_obo_namespace: disease_ontology
id: DOID:0060241
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: 3-M syndrome
annotated property: definition
annotated target: A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/3-M_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/3-m-syndrome

synpolydactyly
type: Class
subclass of: DOID_11193
definition: A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
created_by: emitraka
creation_date: 2015-01-27T16:57:56Z
database_cross_reference: GARD:5087
database_cross_reference: MESH:C538153
database_cross_reference: NCI:C75003
database_cross_reference: OMIM:186000
database_cross_reference: OMIM:608180
database_cross_reference: OMIM:610234
database_cross_reference: ORDO:295195
database_cross_reference: SNOMEDCT_US_2022_09_01:715724002
database_cross_reference: UMLS_CUI:C2699746
has_exact_synonym: syndactyly type 2
has_obo_namespace: disease_ontology
id: DOID:0060242
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: synpolydactyly
annotated property: definition
annotated target: A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Synpolydactyly
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18177473
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8817328

stuttering
type: Class
subclass of: DOID 4186
definition: An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
created_by: emitraka
creation_date: 2015-01-28T16:04:54Z
database_cross_reference: ICD10CM:F80.81
database_cross_reference: MESH:D013342
database_cross_reference: NCI:C35043
database_cross_reference: OMIM:184450
database_cross_reference: OMIM:609261
database_cross_reference: OMIM:614655
database_cross_reference: OMIM:614668
database_cross_reference: SNOMEDCT_US_2022_09_01:191987007
database_cross_reference: SNOMEDCT_US_2022_09_01:229631007
database_cross_reference: SNOMEDCT_US_2022_09_01:29916003
database_cross_reference: UMLS_CUI:C0038131
database_cross_reference: UMLS_CUI:C0038506
database_cross_reference: UMLS_CUI:C0454542
database_cross_reference: UMLS_CUI:C0751527
database_cross_reference: UMLS_CUI:C0751528
database_cross_reference: UMLS_CUI:C0751529
database_cross_reference: UMLS_CUI:C3489627
has_exact_synonym: familial persistent stuttering
has_exact_synonym: stammering
has_obo_namespace: disease_ontology
id: DOID:0060243
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: stuttering
annotated property: definition
annotated target: An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
dc:type: ECO_0007638
dc:type: ECO_0007643
database_cross_reference: url:http://en.wikipedia.org/wiki/Stuttering
database_cross_reference: url:http://www.asha.org/public/speech/disorders/stuttering.htm
database_cross_reference: url:http://www.merriam-webster.com/dictionary/stutter

specific language impairment
type: Class
subclass of: DOID 93
definition: A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
created_by: emitraka
creation_date: 2015-01-28T16:29:51Z
database_cross_reference: OMIM:606711
database_cross_reference: OMIM:606712
database_cross_reference: OMIM:607134
database_cross_reference: OMIM:612514
database_cross_reference: OMIM:615432
has_obo_namespace: disease_ontology
id: DOID:0060244
comment: NT MGI.

Axiom
annotated source: specific language impairment
annotated property: definition
annotated target: A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Specific_language_impairment
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19646677

Mast syndrome
type: Class
subclass of: DOID 2476
definition: A hereditary spastic paraplegia associated with dementia.
created_by: emitraka
creation_date: 2015-01-28T16:42:37Z
database_cross_reference: ICD10CM:G11.4
database_cross_reference: MESH:C565409
database_cross_reference: OMIM:248900
database_cross_reference: ORDO:101001
has_exact_synonym: SPG21
has_exact_synonym: autosomal recessive spastic paraplegia 21
has_exact_synonym: autosomal recessive spastic paraplegia type 21
has_exact_synonym: hereditary spastic paraplegia 21
has_obo_namespace: disease_ontology
id: DOID:0060245
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: Mast syndrome
annotated property: definition
annotated target: A hereditary spastic paraplegia associated with dementia.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/SPG21
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6024251

MASA syndrome
type: Class
subclass of: DOID_0080012
subclass of: DOID 2476
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
created_by: emitraka
creation_date: 2015-01-28T16:49:53Z
database_cross_reference: GARD:6986
database_cross_reference: MESH:C536029
database_cross_reference: NCI:C129930
database_cross_reference: OMIM:303350
database_cross_reference: ORDO:2466
database_cross_reference: SNOMEDCT_US_2022_09_01:716996008
database_cross_reference: UMLS_CUI:C0795953
has_exact_synonym: CRASH syndrome
has_exact_synonym: Gareis-Mason syndrome
has_exact_synonym: L1 syndrome
has_exact_synonym: SPG1
has_exact_synonym: X-linked complicated hereditary spastic paraplegia type 1
has_exact_synonym: X-linked corpus callosum agenesis
has_exact_synonym: X-linked spastic paraplegia 1
has_exact_synonym: hereditary spastic paraplegia 1
has_obo_namespace: disease_ontology
id: DOID:0060246
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: MASA syndrome
annotated property: definition
annotated target: A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/MASA_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/l1-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract

Smith-McCort dysplasia
type: Class
subclass of: DOID_0111167
definition: A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.
created_by: emitraka
creation_date: 2015-01-29T15:06:25Z
database_cross_reference: GARD:10620
database_cross_reference: MESH:C564589
database_cross_reference: OMIM:PS607326
database_cross_reference: ORDO:178355
database_cross_reference: SNOMEDCT_US_2022_09_01:715862006
database_cross_reference: UMLS_CUI:C1846431
has_obo_namespace: disease_ontology
id: DOID:0060247
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: Smith-McCort dysplasia
annotated property: definition
annotated target: A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1216821

Simpson-Golabi-Behmel syndrome type 1
type: Class
subclass of: DOID_0080012
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26.
created_by: emitraka
creation_date: 2015-01-29T15:15:46Z
database_cross_reference: GARD:7649
database_cross_reference: MESH:C537340
database_cross_reference: NCI:C118787
database_cross_reference: OMIM:312870
database_cross_reference: ORDO:373
database_cross_reference: UMLS_CUI:C0796154
has_exact_synonym: DGSX Golabi-Rosen syndrome
has_exact_synonym: Golabi-Rosen syndrome
has_exact_synonym: SGB syndrome
has_exact_synonym: Sara Angers syndrome
has_exact_synonym: Simpson dysmorphia syndrome
has_exact_synonym: X-linked dysplasia gigantism syndrome
has_exact_synonym: bulldog syndrome
has_obo_namespace: disease_ontology
id: DOID:0060248
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Simpson-Golabi-Behmel syndrome type 1
annotated property: definition
annotated target: A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome

scoliosis
type: Class
subclass of: spinal disease
subclass of: DOID_0080010
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0010674
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
definition: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
created_by: emitraka
creation_date: 2015-01-29T15:44:16Z
database_cross_reference: ICD10CM:M41.9
database_cross_reference: MESH:D012600
database_cross_reference: NCI:C78603
database_cross_reference: SNOMEDCT_US_2022_09_01:36773001
database_cross_reference: UMLS_CUI:C0036439
has_obo_namespace: disease_ontology
id: DOID:0060249
in_subset: NCIthesaurus
comment: NT MGI add.

Axiom
annotated source: scoliosis
annotated property: definition
annotated target: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Scoliosis
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140

idiopathic scoliosis
type: Class
subclass of: scoliosis
definition: A scoliosis with no known cause.
created_by: emitraka
creation_date: 2015-01-29T15:52:18Z
database_cross_reference: GARD:552
has_obo_namespace: disease_ontology
id: DOID:0060250
comment: NT MGI.

Axiom
annotated source: idiopathic scoliosis
annotated property: definition
annotated target: A scoliosis with no known cause.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Scoliosis

sclerosteosis
type: Class
subclass of: DOID 205
definition: A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
created_by: emitraka
creation_date: 2015-01-29T16:02:45Z
database_cross_reference: GARD:4771
database_cross_reference: MESH:C537525
database_cross_reference: NCI:C131133
database_cross_reference: OMIM:PS269500
database_cross_reference: ORDO:3152
database_cross_reference: SNOMEDCT_US_2022_09_01:17568006
database_cross_reference: UMLS_CUI:C0265301
has_obo_namespace: disease_ontology
id: DOID:0060251
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: sclerosteosis
annotated property: definition
annotated target: A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11836356

sclerocornea
type: Class
subclass of: DOID_10124
definition: A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
created_by: emitraka
creation_date: 2015-01-29T16:16:57Z
database_cross_reference: MESH:C565209
database_cross_reference: OMIM:181700
database_cross_reference: ORDO:91490
database_cross_reference: UMLS_CUI:C1853235
has_exact_synonym: isolated congenital sclerocornea
has_obo_namespace: disease_ontology
id: DOID:0060252
in_subset: DO_rare_slim

Axiom
annotated source: sclerocornea
annotated property: definition
annotated target: A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Sclerocornea
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3994576

scapuloperoneal myopathy
type: Class
subclass of: DOID 9884
definition: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
created_by: emitraka
creation_date: 2015-01-29T16:35:26Z
database_cross_reference: MESH:C536624
database_cross_reference: OMIM:181430
database_cross_reference: OMIM:300695
has_obo_namespace: disease_ontology
id: DOID:0060253
comment: NT MGI.

Axiom
annotated source: scapuloperoneal myopathy
annotated property: definition
annotated target: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28179901

Robinow syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000934
definition: A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
created_by: emitraka
creation_date: 2015-01-29T16:42:52Z
database_cross_reference: GARD:312
database_cross_reference: ICD10CM:Q87.19
database_cross_reference: MESH:C562492
database_cross_reference: NCI:C85048
database_cross_reference: OMIM:PS268310
database_cross_reference: ORDO:97360
database_cross_reference: SNOMEDCT_US_2022_09_01:76520005
database_cross_reference: UMLS_CUI:C0265205
has_exact_synonym: Robinow dwarfism
has_exact_synonym: acral dysostosis with facial and genital abnormalities
has_exact_synonym: fetal face syndrome
has_obo_namespace: disease_ontology
id: DOID:0060254
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: Robinow syndrome
annotated property: definition
annotated target: A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Robinow_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/robinow-syndrome
database_cross_reference: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract

rippling muscle disease 2
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 66
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
created_by: emitraka
creation_date: 2015-01-29T16:51:43Z
has_alternative_id: DOID:0110302
database_cross_reference: GARD:9164
database_cross_reference: OMIM:606072
database_cross_reference: ORDO:265
database_cross_reference: ORDO:97238
database_cross_reference: SNOMEDCT_US_2022_09_01:709281006
database_cross_reference: UMLS_CUI:C1853698
has_exact_synonym: autosomal dominant limb-girdle muscular dystrophy type 1C
has_obo_namespace: disease_ontology
id: DOID:0060255
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: rippling muscle disease 2
annotated property: definition
annotated target: A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/rippling-muscle-disease
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9537420

Dowling-Degos disease
type: Class
subclass of: DOID_10123
definition: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
created_by: emitraka
creation_date: 2015-01-30T11:04:57Z
database_cross_reference: GARD:9775
database_cross_reference: MESH:C562924
database_cross_reference: OMIM:179850
database_cross_reference: OMIM:615327
database_cross_reference: OMIM:615674
database_cross_reference: OMIM:615696
database_cross_reference: ORDO:79145
database_cross_reference: SNOMEDCT_US_2022_09_01:239133004
database_cross_reference: UMLS_CUI:C0406811
database_cross_reference: UMLS_CUI:C3714534
has_exact_synonym: dark dot disease
has_exact_synonym: reticular pigment anomaly of flexures
has_obo_namespace: disease_ontology
id: DOID:0060256
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: Dowling-Degos disease
annotated property: definition
annotated target: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/dowling-degos-disease

dyschromatosis symmetrica hereditaria
type: Class
subclass of: DOID_10123
definition: A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
created_by: emitraka
creation_date: 2015-01-30T16:08:47Z
database_cross_reference: MESH:C535729
database_cross_reference: NCI:C118435
database_cross_reference: OMIM:127400
database_cross_reference: ORDO:41
database_cross_reference: SNOMEDCT_US_2022_09_01:239085000
database_cross_reference: UMLS_CUI:C0406775
has_exact_synonym: reticulate acropigmentation of Dohi
has_obo_namespace: disease_ontology
id: DOID:0060257
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: dyschromatosis symmetrica hereditaria
annotated property: definition
annotated target: A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22974014

reticulate acropigmentation of Kitamura
type: Class
subclass of: DOID_10123
definition: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
created_by: emitraka
creation_date: 2015-01-30T16:19:57Z
database_cross_reference: OMIM:615537
database_cross_reference: ORDO:178307
database_cross_reference: SNOMEDCT_US_2022_09_01:239133004
database_cross_reference: UMLS_CUI:C0406811
has_exact_synonym: RAPK
has_obo_namespace: disease_ontology
id: DOID:0060258
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: reticulate acropigmentation of Kitamura
annotated property: definition
annotated target: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22808308

renal-hepatic-pancreatic dysplasia
type: Class
subclass of: DOID_0080015
definition: A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
created_by: emitraka
creation_date: 2015-01-30T16:33:37Z
database_cross_reference: MESH:C567142
database_cross_reference: OMIM:208540
database_cross_reference: OMIM:615415
database_cross_reference: ORDO:294415
has_exact_synonym: Ivemark's syndrome
has_obo_namespace: disease_ontology
id: DOID:0060259
in_subset: DO_rare_slim

Axiom
annotated source: renal-hepatic-pancreatic dysplasia
annotated property: definition
annotated target: A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17605805

ptosis
type: Class
subclass of: DOID 5614
definition: An eye disease characterized by the drooping or falling of the upper or lower eyelid.
created_by: emitraka
creation_date: 2015-01-30T16:46:53Z
database_cross_reference: ICD10CM:H02.4
database_cross_reference: ICD9CM:374.3
database_cross_reference: MESH:D001763
database_cross_reference: NCI:C27298
database_cross_reference: SNOMEDCT_US_2022_09_01:204197004
database_cross_reference: UMLS_CUI:C0005745
has_exact_synonym: blepharoptosis
has_exact_synonym: drooping eyelid
has_obo_namespace: disease_ontology
id: DOID:0060260
in_subset: NCIthesaurus
comment: NT MGI add.

Axiom
annotated source: ptosis
annotated property: definition
annotated target: An eye disease characterized by the drooping or falling of the upper or lower eyelid.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29

congenital ptosis
type: Class
subclass of: ptosis
subclass of: DOID_0080015
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A ptosis characterized by eyelid drop present at birth.
created_by: emitraka
creation_date: 2015-01-30T16:53:38Z
database_cross_reference: ICD10CM:Q10.0
database_cross_reference: ICD9CM:743.61
database_cross_reference: NCI:C27049
database_cross_reference: OMIM:178300
database_cross_reference: OMIM:300245
database_cross_reference: SNOMEDCT_US_2022_09_01:204197004
database_cross_reference: UMLS_CUI:C0266573
has_obo_namespace: disease_ontology
id: DOID:0060261
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: congenital ptosis
annotated property: definition
annotated target: A ptosis characterized by eyelid drop present at birth.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29
database_cross_reference: url:https://eyewiki.aao.org/Ptosis,_Congenital

gallbladder disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0002110
subclass of: DOID 77
definition: A gastrointestinal system disease that is located_in the gallbladder.
created_by: emitraka
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: NCI:C34631
database_cross_reference: OMIM:609918
database_cross_reference: OMIM:609919
database_cross_reference: OMIM:611465
database_cross_reference: SNOMEDCT_US_2022_09_01:155807008
database_cross_reference: UMLS_CUI:C0016977
has_obo_namespace: disease_ontology
id: DOID:0060262
in_subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: gallbladder disease
annotated property: definition
annotated target: A gastrointestinal system disease that is located_in the gallbladder.
dc:type: ECO_0007636
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Gallbladder_disease
database_cross_reference: url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null

porencephaly
type: Class
subclass of: DOID 936
definition: A brain disease that is characterized by encephalomalacia and cystic brain lesions.
created_by: emitraka
creation_date: 2015-02-04T14:12:00Z
database_cross_reference: GARD:7430
database_cross_reference: ICD10CM:Q04.6
database_cross_reference: MESH:D065708
database_cross_reference: ORDO:2940
database_cross_reference: SNOMEDCT_US_2022_09_01:1162864000
database_cross_reference: SNOMEDCT_US_2022_09_01:38353004
database_cross_reference: SNOMEDCT_US_2022_09_01:698837003
database_cross_reference: UMLS_CUI:C0302892
database_cross_reference: UMLS_CUI:C1867983
database_cross_reference: UMLS_CUI:C3698507
has_obo_namespace: disease_ontology
id: DOID:0060263
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: porencephaly
annotated property: definition
annotated target: A brain disease that is characterized by encephalomalacia and cystic brain lesions.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cerebral_softening
database_cross_reference: url:https://en.wikipedia.org/wiki/Porencephaly

pontocerebellar hypoplasia
type: Class
subclass of: DOID 1289
definition: A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
created_by: emitraka
creation_date: 2015-02-04T14:23:25Z
database_cross_reference: GARD:10977
database_cross_reference: MESH:C580383
database_cross_reference: OMIM:PS607596
database_cross_reference: SNOMEDCT_US_2022_09_01:45163000
database_cross_reference: UMLS_CUI:C0266468
has_exact_synonym: PCH
has_obo_namespace: disease_ontology
id: DOID:0060264
comment: NT MGI add.

Axiom
annotated source: pontocerebellar hypoplasia
annotated property: definition
annotated target: A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition

pontocerebellar hypoplasia type 1A
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112322
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: OMIM:607596
database_cross_reference: ORDO:2254
has_obo_namespace: disease_ontology
id: DOID:0060265
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 1A
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/607596

pontocerebellar hypoplasia type 1B
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112322
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: OMIM:614678
database_cross_reference: ORDO:2254
has_obo_namespace: disease_ontology
id: DOID:0060266
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 1B
annotated property: definition
annotated target: A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/614678

pontocerebellar hypoplasia type 2A
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: GARD:10705
database_cross_reference: GARD:3631
database_cross_reference: MESH:C564738
database_cross_reference: OMIM:277470
database_cross_reference: ORDO:2524
database_cross_reference: UMLS_CUI:C1848526
has_obo_namespace: disease_ontology
id: DOID:0060267
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 2A
annotated property: definition
annotated target: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/277470

pontocerebellar hypoplasia type 2B
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: MESH:C567325
database_cross_reference: OMIM:612389
database_cross_reference: ORDO:2524
database_cross_reference: UMLS_CUI:C2676466
has_obo_namespace: disease_ontology
id: DOID:0060268
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 2B
annotated property: definition
annotated target: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/612389

pontocerebellar hypoplasia type 2C
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: MESH:C567324
database_cross_reference: OMIM:612390
database_cross_reference: ORDO:2524
database_cross_reference: UMLS_CUI:C2676465
has_obo_namespace: disease_ontology
id: DOID:0060269
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 2C
annotated property: definition
annotated target: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/612390

pontocerebellar hypoplasia type 2D
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: OMIM:613811
database_cross_reference: ORDO:2524
has_obo_namespace: disease_ontology
id: DOID:0060270
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 2D
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613811

pontocerebellar hypoplasia type 2E
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0112328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: OMIM:615851
has_obo_namespace: disease_ontology
id: DOID:0060271
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 2E
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615851

pontocerebellar hypoplasia type 3
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: GARD:10708
database_cross_reference: MESH:C548072
database_cross_reference: OMIM:608027
database_cross_reference: ORDO:97249
database_cross_reference: SNOMEDCT_US_2022_09_01:718609003
database_cross_reference: UMLS_CUI:C1842687
has_obo_namespace: disease_ontology
id: DOID:0060272
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 3
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/608027

pontocerebellar hypoplasia type 4
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: GARD:343
database_cross_reference: MESH:C536716
database_cross_reference: OMIM:225753
database_cross_reference: ORDO:166063
database_cross_reference: SNOMEDCT_US_2022_09_01:718608006
database_cross_reference: UMLS_CUI:C1856974
has_obo_namespace: disease_ontology
id: DOID:0060273
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 4
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/225753

pontocerebellar hypoplasia type 5
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: GARD:10709
database_cross_reference: MESH:C537745
database_cross_reference: OMIM:610204
database_cross_reference: ORDO:166068
database_cross_reference: SNOMEDCT_US_2022_09_01:718607001
database_cross_reference: UMLS_CUI:C1857762
has_obo_namespace: disease_ontology
id: DOID:0060274
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 5
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/610204

pontocerebellar hypoplasia type 6
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: GARD:10710
database_cross_reference: MESH:C548074
database_cross_reference: OMIM:611523
database_cross_reference: ORDO:166073
database_cross_reference: SNOMEDCT_US_2022_09_01:718606005
database_cross_reference: UMLS_CUI:C1969084
has_obo_namespace: disease_ontology
id: DOID:0060275
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 6
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/611523

pontocerebellar hypoplasia type 7
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: OMIM:614969
database_cross_reference: ORDO:284339
has_obo_namespace: disease_ontology
id: DOID:0060276
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 7
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/614969

pontocerebellar hypoplasia type 8
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: OMIM:614961
database_cross_reference: ORDO:324569
has_obo_namespace: disease_ontology
id: DOID:0060277
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 8
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/614961

pontocerebellar hypoplasia type 9
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: OMIM:615809
database_cross_reference: ORDO:369920
has_obo_namespace: disease_ontology
id: DOID:0060278
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 9
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615809

pontocerebellar hypoplasia type 10
type: Class
subclass of: pontocerebellar hypoplasia
definition: A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
created_by: emitraka
creation_date: 2015-02-04T14:28:28Z
database_cross_reference: OMIM:615803
database_cross_reference: ORDO:411493
has_obo_namespace: disease_ontology
id: DOID:0060279
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: pontocerebellar hypoplasia type 10
annotated property: definition
annotated target: A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615803

primary pigmented nodular adrenocortical disease
type: Class
subclass of: DOID 3952
definition: An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
created_by: emitraka
creation_date: 2015-02-04T16:01:02Z
database_cross_reference: GARD:10906
database_cross_reference: MESH:C566469
database_cross_reference: MESH:C566472
database_cross_reference: OMIM:610475
database_cross_reference: OMIM:610489
database_cross_reference: OMIM:614190
database_cross_reference: OMIM:615830
database_cross_reference: ORDO:189439
database_cross_reference: UMLS_CUI:C1864846
database_cross_reference: UMLS_CUI:C1864851
has_obo_namespace: disease_ontology
id: DOID:0060280
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: primary pigmented nodular adrenocortical disease
annotated property: definition
annotated target: An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2212318

photosensitive epilepsy
type: Class
subclass of: DOID 1826
definition: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
created_by: emitraka
creation_date: 2015-02-04T16:15:55Z
database_cross_reference: GARD:5648
database_cross_reference: ICD10CM:G40.8
database_cross_reference: OMIM:132100
database_cross_reference: OMIM:609572
database_cross_reference: OMIM:609573
database_cross_reference: ORDO:166409
has_exact_synonym: photogenic epilepsy
has_exact_synonym: photoparoxysmal response
has_obo_namespace: disease_ontology
id: DOID:0060281
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: photosensitive epilepsy
annotated property: definition
annotated target: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Photosensitive_epilepsy

persistent hyperplastic primary vitreous
type: Class
subclass of: DOID 9720
definition: A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
created_by: emitraka
creation_date: 2015-02-04T16:21:06Z
database_cross_reference: MESH:D054514
database_cross_reference: NCI:C161554
database_cross_reference: OMIM:221900
database_cross_reference: OMIM:611308
database_cross_reference: ORDO:91495
database_cross_reference: SNOMEDCT_US_2022_09_01:69927002
database_cross_reference: UMLS_CUI:C0266568
has_obo_namespace: disease_ontology
id: DOID:0060282
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: persistent hyperplastic primary vitreous
annotated property: definition
annotated target: A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous

peeling skin syndrome
type: Class
subclass of: DOID 37
definition: A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene.
created_by: emitraka
creation_date: 2015-02-04T16:28:52Z
database_cross_reference: ICD10CM:Q80.8
database_cross_reference: MESH:C564818
database_cross_reference: OMIM:270300
database_cross_reference: OMIM:613088
database_cross_reference: ORDO:263543
has_obo_namespace: disease_ontology
id: DOID:0060283
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: peeling skin syndrome
annotated property: definition
annotated target: A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome

paroxysmal nocturnal hemoglobinuria
type: Class
subclass of: DOID 582
definition: An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
created_by: emitraka
creation_date: 2015-02-04T16:30:50Z
database_cross_reference: GARD:7337
database_cross_reference: ICD10CM:D59.5
database_cross_reference: ICD10CM:D59.6
database_cross_reference: MESH:D006457
database_cross_reference: NCI:C61233
database_cross_reference: OMIM:300818
database_cross_reference: OMIM:615399
database_cross_reference: ORDO:447
database_cross_reference: SNOMEDCT_US_2022_09_01:1468004
database_cross_reference: SNOMEDCT_US_2022_09_01:154805009
database_cross_reference: SNOMEDCT_US_2022_09_01:191226006
database_cross_reference: UMLS_CUI:C0019050
database_cross_reference: UMLS_CUI:C0024790
database_cross_reference: UMLS_CUI:C0086774
has_obo_namespace: disease_ontology
id: DOID:0060284
in_subset: DO_rare_slim
in_subset: NCIthesaurus
comment: NT MGI.

Axiom
annotated source: paroxysmal nocturnal hemoglobinuria
annotated property: definition
annotated target: An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria

parietal foramina
type: Class
subclass of: DOID_0080074
definition: An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.
created_by: emitraka
creation_date: 2015-02-04T16:36:15Z
database_cross_reference: MESH:C566826
database_cross_reference: OMIM:168500
database_cross_reference: OMIM:609566
database_cross_reference: OMIM:609597
database_cross_reference: ORDO:60015
database_cross_reference: SNOMEDCT_US_2022_09_01:718099006
database_cross_reference: UMLS_CUI:C1868598
has_exact_synonym: Caitlin marks
has_exact_synonym: enlarged parietal foramina
has_exact_synonym: hereditary cranium bifidum
has_obo_namespace: disease_ontology
id: DOID:0060285
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: parietal foramina
annotated property: definition
annotated target: An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina

combined oxidative phosphorylation deficiency
type: Class
subclass of: DOID 700
definition: A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
created_by: emitraka
creation_date: 2015-02-04T16:56:52Z
database_cross_reference: GARD:12893
database_cross_reference: OMIM:PS609060
has_obo_namespace: disease_ontology
id: DOID:0060286
comment: NT MGI.

Axiom
annotated source: combined oxidative phosphorylation deficiency
annotated property: definition
annotated target: A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency

cornea plana
type: Class
subclass of: DOID_10124
definition: A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D.
created_by: emitraka
creation_date: 2015-02-04T17:04:28Z
database_cross_reference: ICD10CM:Q13.4
database_cross_reference: OMIM:121400
database_cross_reference: OMIM:217300
database_cross_reference: ORDO:53691
has_exact_synonym: flat cornea
has_obo_namespace: disease_ontology
id: DOID:0060287
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: cornea plana
annotated property: definition
annotated target: A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D.
database_cross_reference: url:https://disorders.eyes.arizona.edu/handouts/cornea-plana

omodysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism.
created_by: emitraka
creation_date: 2015-02-05T09:58:47Z
database_cross_reference: OMIM:PS258315
database_cross_reference: ORDO:2733
database_cross_reference: SNOMEDCT_US_2022_09_01:725164008
database_cross_reference: UMLS_CUI:C4510897
has_obo_namespace: disease_ontology
id: DOID:0060288
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: omodysplasia
annotated property: definition
annotated target: An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/12210345/

Ohdo syndrome
type: Class
subclass of: DOID 225
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000369
definition: A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
created_by: emitraka
creation_date: 2015-02-05T10:03:42Z
database_cross_reference: MESH:C536232
database_cross_reference: OMIM:249620
database_cross_reference: OMIM:300895
database_cross_reference: ORDO:2728
database_cross_reference: SNOMEDCT_US_2022_09_01:412787009
database_cross_reference: UMLS_CUI:C0796094
has_exact_synonym: Ohdo blepharophimosis syndrome
has_obo_namespace: disease_ontology
id: DOID:0060289
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: Ohdo syndrome
annotated property: definition
annotated target: A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
dc:type: ECO_0007636
database_cross_reference: url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple

blepharophimosis-intellectual disability syndrome, SBBYS type
type: Class
subclass of: Ohdo syndrome
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000369
definition: A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.
created_by: emitraka
creation_date: 2015-02-05T10:07:12Z
database_cross_reference: MESH:C536717
database_cross_reference: OMIM:603736
database_cross_reference: ORDO:3047
database_cross_reference: SNOMEDCT_US_2022_09_01:699298009
database_cross_reference: UMLS_CUI:C1863557
has_exact_synonym: Ohdo syndrome, SBBYS Variant
has_exact_synonym: Say-Barber-Biesecker-Young-Simpson syndrome
has_obo_namespace: disease_ontology
has_related_synonym: SBBYSS
id: DOID:0060290
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: blepharophimosis-intellectual disability syndrome, SBBYS type
annotated property: definition
annotated target: A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes

oculodentodigital dysplasia
type: Class
subclass of: DOID 225
definition: A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
created_by: emitraka
creation_date: 2015-02-05T10:12:23Z
database_cross_reference: GARD:7239
database_cross_reference: MESH:C563160
database_cross_reference: OMIM:164200
database_cross_reference: OMIM:257850
database_cross_reference: ORDO:2710
database_cross_reference: SNOMEDCT_US_2022_09_01:31291009
database_cross_reference: UMLS_CUI:C0812437
has_exact_synonym: ODD syndrome
has_obo_namespace: disease_ontology
id: DOID:0060291
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: oculodentodigital dysplasia
annotated property: definition
annotated target: A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia
database_cross_reference: url:https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12021949

X-linked chondrodysplasia punctata 1
type: Class
subclass of: DOID_0080012
subclass of: DOID 2581
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.
created_by: emitraka
creation_date: 2015-02-05T16:35:34Z
database_cross_reference: ICD10CM:Q77.3
database_cross_reference: MESH:C580533
database_cross_reference: OMIM:302950
database_cross_reference: ORDO:35173
has_exact_synonym: chondrodystrophia calcificans congenita
has_obo_namespace: disease_ontology
id: DOID:0060292
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: X-linked chondrodysplasia punctata 1
annotated property: definition
annotated target: A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata

autosomal dominant chondrodysplasia punctata
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2581
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.
created_by: emitraka
creation_date: 2015-02-05T16:49:46Z
database_cross_reference: ICD10CM:Q77.3
database_cross_reference: OMIM:118650
database_cross_reference: OMIM:118651
database_cross_reference: OMIM:602497
database_cross_reference: ORDO:79344
has_obo_namespace: disease_ontology
id: DOID:0060293
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: autosomal dominant chondrodysplasia punctata
annotated property: definition
annotated target: A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/118650

cold-induced sweating syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that is characterized by profuse sweating induced by cold ambient temperature.
created_by: emitraka
creation_date: 2015-02-06T16:10:07Z
database_cross_reference: MESH:C536214
database_cross_reference: OMIM:PS272430
database_cross_reference: ORDO:157820
database_cross_reference: SNOMEDCT_US_2022_09_01:725097006
database_cross_reference: UMLS_CUI:C1832409
has_exact_synonym: Crisponi syndrome
has_exact_synonym: Sohar-Crisponi syndrome
has_obo_namespace: disease_ontology
id: DOID:0060294
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: cold-induced sweating syndrome
annotated property: definition
annotated target: A syndrome that is characterized by profuse sweating induced by cold ambient temperature.
dc:type: ECO_0007637
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome

complement component 2 deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: GARD:1452
database_cross_reference: ICD10CM:D84.1
database_cross_reference: OMIM:217000
database_cross_reference: ORDO:169147
has_obo_namespace: disease_ontology
id: DOID:0060295
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: complement component 2 deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency

congenital secretory chloride diarrhea 1
type: Class
subclass of: secretory diarrhea
subclass of: autosomal recessive disease
subclass of: DOID_0080015
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
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene.
created_by: emitraka
creation_date: 2015-02-09T16:42:50Z
database_cross_reference: MESH:C536210
database_cross_reference: OMIM:214700
database_cross_reference: ORDO:53689
database_cross_reference: SNOMEDCT_US_2022_09_01:24412005
database_cross_reference: UMLS_CUI:C0267662
has_exact_synonym: congenital chloride diarrhea finnish type
has_exact_synonym: congenital chloride diarrhoea finnish type
has_exact_synonym: congenital chloridorrhea
has_exact_synonym: congenital secretory chloride diarrhoea 1
has_obo_namespace: disease_ontology
id: DOID:0060296
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: congenital secretory chloride diarrhea 1
annotated property: definition
annotated target: A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://omim.org/entry/214700

complement component 4a deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: ICD10CM:D84.1
database_cross_reference: MESH:C565167
database_cross_reference: OMIM:614380
database_cross_reference: ORDO:169147
has_obo_namespace: disease_ontology
id: DOID:0060297
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: complement component 4a deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/614380

complement component 4b deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: ICD10CM:D84.1
database_cross_reference: OMIM:614379
database_cross_reference: ORDO:169147
has_obo_namespace: disease_ontology
id: DOID:0060298
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: complement component 4b deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/614379

complement component 6 deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: ICD10CM:D84.1
database_cross_reference: MESH:C567307
database_cross_reference: OMIM:612446
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
id: DOID:0060299
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: complement component 6 deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/612446

complement component 7 deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: ICD10CM:D84.1
database_cross_reference: MESH:C566443
database_cross_reference: OMIM:610102
database_cross_reference: ORDO:1695150
has_obo_namespace: disease_ontology
id: DOID:0060300
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: complement component 7 deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/610102

type I complement component 8 deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: ICD10CM:D84.1
database_cross_reference: OMIM:613790
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
id: DOID:0060301
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: type I complement component 8 deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency

type II complement component 8 deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: ICD10CM:D84.1
database_cross_reference: OMIM:613789
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
id: DOID:0060302
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: type II complement component 8 deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency

complement component 9 deficiency
type: Class
subclass of: DOID 626
definition: A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene.
created_by: emitraka
creation_date: 2015-02-09T15:32:25Z
database_cross_reference: ICD10CM:D84.1
database_cross_reference: OMIM:613825
database_cross_reference: ORDO:169150
has_obo_namespace: disease_ontology
id: DOID:0060303
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: complement component 9 deficiency
annotated property: definition
annotated target: A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613825

dyschromatosis universalis hereditaria
type: Class
subclass of: DOID_10123
definition: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
created_by: emitraka
creation_date: 2015-02-09T16:53:42Z
database_cross_reference: GARD:1996
database_cross_reference: MESH:C535730
database_cross_reference: NCI:C173131
database_cross_reference: OMIM:127500
database_cross_reference: OMIM:612715
database_cross_reference: OMIM:615402
database_cross_reference: ORDO:241
database_cross_reference: UMLS_CUI:C2930995
has_obo_namespace: disease_ontology
id: DOID:0060304
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: dyschromatosis universalis hereditaria
annotated property: definition
annotated target: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12372090

megalocornea
type: Class
subclass of: DOID_0080012
subclass of: DOID_10124
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.
created_by: emitraka
creation_date: 2015-02-10T12:29:54Z
database_cross_reference: OMIM:249300
database_cross_reference: OMIM:309300
database_cross_reference: ORDO:91489
database_cross_reference: SNOMEDCT_US_2022_09_01:204118005
database_cross_reference: UMLS_CUI:C0344530
has_exact_synonym: anterior megalophthalmos
has_exact_synonym: congenital anterior megalophthalmia
has_obo_namespace: disease_ontology
id: DOID:0060305
in_subset: DO_rare_slim
comment: NT MGI.

Axiom
annotated source: megalocornea
annotated property: definition
annotated target: A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.
dc:type: ECO_0007636
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Megalocornea
database_cross_reference: url:http://ghr.nlm.nih.gov/gene/CHRDL1
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6849653

Meier-Gorlin syndrome
type: Class
subclass of: DOID 225
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.
created_by: emitraka
creation_date: 2015-02-10T12:40:39Z
database_cross_reference: GARD:2033
database_cross_reference: MESH:C538012
database_cross_reference: OMIM:PS224690
database_cross_reference: ORDO:2554
database_cross_reference: SNOMEDCT_US_2022_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
comment: NT MGI.

Axiom
annotated source: Meier-Gorlin syndrome
annotated property: definition
annotated target: 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.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14564153

autosomal dominant intellectual developmental disorder
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 1059
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.
created_by: emitraka
creation_date: 2015-02-10T16:47:55Z
database_cross_reference: GARD:12107
database_cross_reference: OMIM: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
comment: NT MGI.

Axiom
annotated source: autosomal dominant intellectual developmental disorder
annotated property: definition
annotated target: A intellectual disability characterized by an autosomal dominant inheritance pattern.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21124998

autosomal recessive intellectual developmental disorder
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 1059
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.
created_by: emitraka
creation_date: 2015-02-11T10:32:11Z
database_cross_reference: OMIM: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
comment: NT MGI.

Axiom
annotated source: autosomal recessive intellectual developmental disorder
annotated property: definition
annotated target: A intellectual disability characterized by an autosomal recessive inheritance pattern.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21124998

syndromic X-linked intellectual disability
type: Class
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 characterized by an X-linked inheritance pattern.
created_by: emitraka
creation_date: 2015-02-11T16:14:46Z
database_cross_reference: OMIM:PS309510
has_exact_synonym: syndromic X-linked mental retardation
has_obo_namespace: disease_ontology
id: DOID:0060309
comment: NT MGI.

Axiom
annotated source: syndromic X-linked intellectual disability
annotated property: definition
annotated target: A syndromic intellectual characterized by an X-linked inheritance pattern.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/X-linked_intellectual_disability

uvulitis
type: Class
subclass of: DOID 974
definition: An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
created_by: emitraka
creation_date: 2015-02-16T13:26:27Z
database_cross_reference: ICD10CM:K12.2
database_cross_reference: MEDDRA:10051962
has_exact_synonym: acute uvulitis
has_obo_namespace: disease_ontology
id: DOID:0060310
comment: PRISM.

Axiom
annotated source: uvulitis
annotated property: definition
annotated target: An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8285973

adenoid hypertrophy
type: Class
subclass of: DOID 974
subclass of: Restriction
  on property: RO_0004029
  some values from: adenoid hypertrophy
definition: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.
created_by: emitraka
creation_date: 2015-02-16T13:35:56Z
database_cross_reference: ICD10CM:J35.2
database_cross_reference: ICD9CM:474.12
database_cross_reference: MEDDRA:10001229
database_cross_reference: SNOMEDCT_US_2022_09_01:111591002
database_cross_reference: UMLS_CUI:C0149825
has_exact_synonym: adenoidal hypertrophy
has_exact_synonym: enlarged adenoids
has_obo_namespace: disease_ontology
id: DOID:0060311
comment: PRISM.

Axiom
annotated source: adenoid hypertrophy
annotated property: definition
annotated target: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007640
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Adenoid_hypertrophy
database_cross_reference: url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21126775

angular cheilitis
type: Class
subclass of: DOID 1762
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000061
definition: A cheilitis characterized by inflammation of one or both of the corners of the mouth.
created_by: emitraka
creation_date: 2015-02-19T15:57:00Z
database_cross_reference: ICD10CM:K13.0
database_cross_reference: NCI:C112198
database_cross_reference: SNOMEDCT_US_2022_09_01:200729007
database_cross_reference: UMLS_CUI:C0221237
has_exact_synonym: angular cheilosis
has_exact_synonym: angular stomatitis
has_exact_synonym: cheilosis
has_exact_synonym: commissural cheilitis
has_obo_namespace: disease_ontology
id: DOID:0060312
in_subset: NCIthesaurus
comment: PRISM.

Axiom
annotated source: angular cheilitis
annotated property: definition
annotated target: A cheilitis characterized by inflammation of one or both of the corners of the mouth.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Angular_cheilitis

tracheomalacia
type: Class
subclass of: DOID 3225
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000032
definition: A tracheal disease characterized by flaccidity of the tracheal support cartilage.
created_by: emitraka
creation_date: 2015-02-20T16:02:03Z
database_cross_reference: ICD10CM:Q32.0
database_cross_reference: MESH:C557675
database_cross_reference: ORDO:95430
database_cross_reference: SNOMEDCT_US_2022_09_01:95467005
database_cross_reference: UMLS_CUI:C0392109
has_exact_synonym: congenital tracheomalacia
has_obo_namespace: disease_ontology
id: DOID:0060313
in_subset: DO_rare_slim
comment: PRISM.

Axiom
annotated source: tracheomalacia
annotated property: definition
annotated target: A tracheal disease characterized by flaccidity of the tracheal support cartilage.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Tracheomalacia

persistent generalized lymphadenopathy
type: Class
subclass of: DOID 9942
definition: A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
created_by: emitraka
creation_date: 2015-02-23T14:33:26Z
has_exact_synonym: PGL
has_obo_namespace: disease_ontology
id: DOID:0060314
comment: PRISM.

Axiom
annotated source: persistent generalized lymphadenopathy
annotated property: definition
annotated target: A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy

oral hairy leukoplakia
type: Class
subclass of: DOID 403
definition: A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
created_by: emitraka
creation_date: 2015-02-23T15:55:53Z
database_cross_reference: ICD10CM:K13.3
database_cross_reference: MESH:D017733
database_cross_reference: NCI:C3722
database_cross_reference: SNOMEDCT_US_2022_09_01:58918007
database_cross_reference: UMLS_CUI:C0206186
has_exact_synonym: hairy leukoplakia
has_obo_namespace: disease_ontology
id: DOID:0060315
in_subset: NCIthesaurus

Axiom
annotated source: oral hairy leukoplakia
annotated property: definition
annotated target: A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Hairy_leukoplakia

orofaciodigital syndrome I
type: Class
subclass of: DOID_0080009
subclass of: DOID 4501
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
created_by: emitraka
creation_date: 2015-03-09T17:15:07Z
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MESH:D009958
database_cross_reference: NCI:C75481
database_cross_reference: OMIM:311200
database_cross_reference: ORDO:2750
database_cross_reference: SNOMEDCT_US_2022_09_01:1779005
database_cross_reference: SNOMEDCT_US_2022_09_01:403773005
database_cross_reference: SNOMEDCT_US_2022_09_01:52868006
database_cross_reference: UMLS_CUI:C0026363
database_cross_reference: UMLS_CUI:C0029294
database_cross_reference: UMLS_CUI:C1510460
has_exact_synonym: Papillon-Leage-Psaume syndrome
has_exact_synonym: orofaciodigital syndrome 1
has_exact_synonym: orofaciodigital syndrome type I
has_obo_namespace: disease_ontology
id: DOID:0060316
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome I
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance

lung abscess
type: Class
subclass of: DOID 850
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000132
definition: A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
created_by: emitraka
creation_date: 2015-02-23T16:58:49Z
database_cross_reference: ICD10CM:J85.2
database_cross_reference: ICD9CM:513.0
database_cross_reference: MESH:D008169
database_cross_reference: NCI:C99090
database_cross_reference: SNOMEDCT_US_2022_09_01:155618005
database_cross_reference: UMLS_CUI:C0024110
has_obo_namespace: disease_ontology
id: DOID:0060317
in_subset: NCIthesaurus

Axiom
annotated source: lung abscess
annotated property: definition
annotated target: A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Lung_abscess

acute promyelocytic leukemia
type: Class
subclass of: DOID 9119
definition: An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
created_by: emitraka
creation_date: 2015-02-24T16:50:50Z
database_cross_reference: GARD:538
database_cross_reference: ICD10CM:C92.4
database_cross_reference: MESH:D015473
database_cross_reference: NCI:C3182
database_cross_reference: OMIM:612376
database_cross_reference: ORDO:520
database_cross_reference: SNOMEDCT_US_2022_09_01:28950004
database_cross_reference: UMLS_CUI:C0023487
has_exact_synonym: acute myeloblastic leukaemia type 3
has_exact_synonym: acute myeloblastic leukemia type 3
has_exact_synonym: acute myeloid leukaemia M3
has_exact_synonym: acute myeloid leukemia M3
has_exact_synonym: acute promyelocytic leukaemia
has_obo_namespace: disease_ontology
id: DOID:0060318
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: acute promyelocytic leukemia
annotated property: definition
annotated target: An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia

cardiac arrest
type: Class
subclass of: DOID 6000
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000292
definition: A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
created_by: emitraka
creation_date: 2015-02-25T15:12:30Z
database_cross_reference: ICD10CM:I46
database_cross_reference: ICD9CM:427.5
database_cross_reference: MESH:D006323
database_cross_reference: NCI:C50479
database_cross_reference: NCI:C50483
database_cross_reference: SNOMEDCT_US_2022_09_01:30298009
database_cross_reference: UMLS_CUI:C0018790
database_cross_reference: UMLS_CUI:C0600228
has_exact_synonym: cardiopulmonary arrest
has_exact_synonym: circulatory arrest
has_obo_namespace: disease_ontology
id: DOID:0060319
in_subset: NCIthesaurus

Axiom
annotated source: cardiac arrest
annotated property: definition
annotated target: A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
dc:type: ECO_0007638
dc:type: ECO_0007644
database_cross_reference: url:http://en.wikipedia.org/wiki/Cardiac_arrest
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html

inguinal hernia
type: Class
subclass of: DOID 5295
definition: An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
created_by: emitraka
creation_date: 2015-02-25T15:54:50Z
database_cross_reference: ICD10CM:K40
database_cross_reference: ICD9CM:550
database_cross_reference: MESH:D006552
database_cross_reference: NCI:C34690
database_cross_reference: NCI:C34691
database_cross_reference: NCI:C34692
database_cross_reference: SNOMEDCT_US_2022_09_01:155738001
database_cross_reference: SNOMEDCT_US_2022_09_01:196800008
database_cross_reference: UMLS_CUI:C0019294
database_cross_reference: UMLS_CUI:C0019295
database_cross_reference: UMLS_CUI:C0019296
has_obo_namespace: disease_ontology
id: DOID:0060320
in_subset: NCIthesaurus

Axiom
annotated source: inguinal hernia
annotated property: definition
annotated target: An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Inguinal_hernia

umbilical hernia
type: Class
subclass of: DOID 5295
definition: A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
created_by: emitraka
creation_date: 2015-02-25T15:58:35Z
database_cross_reference: ICD10CM:Q79.2
database_cross_reference: ICD9CM:756.72
database_cross_reference: MESH:D006554
database_cross_reference: NCI:C98997
database_cross_reference: SNOMEDCT_US_2022_09_01:49324006
database_cross_reference: SNOMEDCT_US_2022_09_01:5867007
database_cross_reference: UMLS_CUI:C0795690
database_cross_reference: UMLS_CUI:C1306503
has_obo_namespace: disease_ontology
id: DOID:0060321
in_subset: NCIthesaurus

Axiom
annotated source: umbilical hernia
annotated property: definition
annotated target: A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630
database_cross_reference: url:https://en.wikipedia.org/wiki/Umbilical_hernia

mastoiditis
type: Class
subclass of: DOID 3342
subclass of: DOID 5100
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001756
definition: A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
created_by: emitraka
creation_date: 2015-02-25T16:29:09Z
database_cross_reference: ICD10CM:H70.9
database_cross_reference: ICD9CM:383.9
database_cross_reference: MESH:D008417
database_cross_reference: NCI:C128368
database_cross_reference: SNOMEDCT_US_2022_09_01:155230007
database_cross_reference: UMLS_CUI:C0024904
has_obo_namespace: disease_ontology
id: DOID:0060322
in_subset: NCIthesaurus

Axiom
annotated source: mastoiditis
annotated property: definition
annotated target: A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.
dc:type: ECO_0007638
dc:type: ECO_0007640
database_cross_reference: url:http://en.wikipedia.org/wiki/Mastoiditis
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm

breast abscess
type: Class
subclass of: DOID 3463
definition: A breast disease characterized by a collection of pus in the breast.
created_by: emitraka
creation_date: 2015-02-25T17:21:01Z
has_obo_namespace: disease_ontology
id: DOID:0060323

Axiom
annotated source: breast abscess
annotated property: definition
annotated target: A breast disease characterized by a collection of pus in the breast.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Mastitis#Breast_abscess

dental abscess
type: Class
subclass of: DOID 1091
definition: A tooth disease characterized by a localized collection of pus associated with a tooth.
created_by: emitraka
creation_date: 2015-02-25T17:25:03Z
database_cross_reference: ICD10CM:K04.6
has_obo_namespace: disease_ontology
id: DOID:0060324

Axiom
annotated source: dental abscess
annotated property: definition
annotated target: A tooth disease characterized by a localized collection of pus associated with a tooth.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Dental_abscess

cervical polyp
type: Class
subclass of: DOID 2253
definition: A cervix disease characterized by a benign polyp on the surface of the cervical canal.
created_by: emitraka
creation_date: 2015-02-25T17:33:54Z
database_cross_reference: ICD10CM:D26.9
database_cross_reference: ICD9CM:219
database_cross_reference: SNOMEDCT_US_2022_09_01:189107007
database_cross_reference: UMLS_CUI:C0153996
has_obo_namespace: disease_ontology
id: DOID:0060325

Axiom
annotated source: cervical polyp
annotated property: definition
annotated target: A cervix disease characterized by a benign polyp on the surface of the cervical canal.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Cervical_polyp

myelomeningocele
type: Class
subclass of: DOID_0080016
subclass of: DOID 319
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0002240
definition: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
created_by: emitraka
creation_date: 2015-02-25T17:47:25Z
database_cross_reference: ICD10CM:Q05
database_cross_reference: MESH:D008591
database_cross_reference: NCI:C101201
database_cross_reference: NCI:C98874
database_cross_reference: SNOMEDCT_US_2022_09_01:268308005
database_cross_reference: SNOMEDCT_US_2022_09_01:7096005
database_cross_reference: UMLS_CUI:C0025312
database_cross_reference: UMLS_CUI:C0086664
database_cross_reference: UMLS_CUI:C0751316
has_obo_namespace: disease_ontology
id: DOID:0060326
in_subset: NCIthesaurus

Axiom
annotated source: myelomeningocele
annotated property: definition
annotated target: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
dc:type: ECO_0007638
dc:type: ECO_0007640
database_cross_reference: url:http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm

omphalocele
type: Class
subclass of: DOID_0080015
definition: A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
created_by: emitraka
creation_date: 2015-02-25T17:54:05Z
database_cross_reference: ICD10CM:Q79.2
database_cross_reference: ICD9CM:756.72
database_cross_reference: MESH:D006554
database_cross_reference: NCI:C98997
database_cross_reference: OMIM:164750
database_cross_reference: SNOMEDCT_US_2022_09_01:49324006
database_cross_reference: SNOMEDCT_US_2022_09_01:5867007
database_cross_reference: UMLS_CUI:C0795690
database_cross_reference: UMLS_CUI:C1306503
has_exact_synonym: omphalocoele
has_obo_namespace: disease_ontology
id: DOID:0060327
in_subset: NCIthesaurus

Axiom
annotated source: omphalocele
annotated property: definition
annotated target: A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
dc:type: ECO_0007638
dc:type: ECO_0007640
database_cross_reference: url:http://en.wikipedia.org/wiki/Omphalocele
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm

anal fistula
type: Class
subclass of: DOID 1285
definition: An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
created_by: elvira
creation_date: 2015-02-25T19:05:13Z
database_cross_reference: ICD10CM:K60.3
database_cross_reference: MESH:D012003
has_obo_namespace: disease_ontology
id: DOID:0060328

Axiom
annotated source: anal fistula
annotated property: definition
annotated target: An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Anal_fistula

ectopic pregnancy
type: Class
subclass of: DOID 229
definition: A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
created_by: elvira
creation_date: 2015-02-25T19:27:50Z
database_cross_reference: GARD:6318
database_cross_reference: ICD10CM:O00
database_cross_reference: ICD9CM:633
database_cross_reference: MESH:D011271
database_cross_reference: NCI:C34945
database_cross_reference: SNOMEDCT_US_2022_09_01:156080003
database_cross_reference: UMLS_CUI:C0032987
has_exact_synonym: eccyesis
has_obo_namespace: disease_ontology
id: DOID:0060329
in_subset: NCIthesaurus

Axiom
annotated source: ectopic pregnancy
annotated property: definition
annotated target: A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity.
dc:type: ECO_0007638
dc:type: ECO_0007640
database_cross_reference: url:http://en.wikipedia.org/wiki/Ectopic_pregnancy
database_cross_reference: url:http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm

Rapp-Hodgkin syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2121
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
created_by: emitraka
creation_date: 2015-03-12T13:47:30Z
database_cross_reference: GARD:5690
database_cross_reference: MESH:C535289
database_cross_reference: OMIM:129400
database_cross_reference: ORDO:3022
has_exact_synonym: RHS
has_exact_synonym: anhidrotic ectodermal dysplasia with cleft lip/palate
has_exact_synonym: ectodermal dysplasia syndrome, Rapp-Hodgkin type
has_exact_synonym: ectodermal dysplasia, Rapp-Hodgkin type
has_obo_namespace: disease_ontology
id: DOID:0060330
in_subset: DO_rare_slim
comment: Part of AEC spectrum. Research more.

Axiom
annotated source: Rapp-Hodgkin syndrome
annotated property: definition
annotated target: An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
dc:type: ECO_0007637
database_cross_reference: url:http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1

mitochondrial complex V (ATP synthase) deficiency nuclear type 2
type: Class
subclass of: DOID_0111143
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 TMEM70 gene on chromosome 8q21.
created_by: emitraka
creation_date: 2015-03-12T16:04:59Z
database_cross_reference: ICD10CM:G71.3
database_cross_reference: OMIM:614052
database_cross_reference: ORDO:1194
has_exact_synonym: MC5DN2
has_exact_synonym: neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
has_obo_namespace: disease_ontology
id: DOID:0060331
in_subset: DO_rare_slim

Axiom
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 2
annotated property: definition
annotated target: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614052

mitochondrial complex V (ATP synthase) deficiency nuclear type 3
type: Class
subclass of: DOID_0111143
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 ATP5E gene on chromosome 20q13.
created_by: emitraka
creation_date: 2015-03-12T16:04:59Z
database_cross_reference: ICD10CM:E88.8
database_cross_reference: OMIM:614053
has_exact_synonym: MC5DN3
has_obo_namespace: disease_ontology
id: DOID:0060332
in_subset: DO_rare_slim

Axiom
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 3
annotated property: definition
annotated target: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614053

mitochondrial complex V (ATP synthase) deficiency nuclear type 4
type: Class
subclass of: DOID_0111143
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 ATP5A1 gene on chromosome 18q.
created_by: emitraka
creation_date: 2015-03-12T16:04:59Z
database_cross_reference: ICD10CM:E88.8
database_cross_reference: OMIM:615228
database_cross_reference: ORDO:254913
has_exact_synonym: MC5DN4
has_obo_namespace: disease_ontology
id: DOID:0060333
in_subset: DO_rare_slim

Axiom
annotated source: mitochondrial complex V (ATP synthase) deficiency nuclear type 4
annotated property: definition
annotated target: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/615228

transient neonatal diabetes mellitus
type: Class
subclass of: DOID_11717
definition: A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
created_by: emitraka
creation_date: 2015-03-12T16:59:58Z
database_cross_reference: GARD:1839
database_cross_reference: ICD10CM:P70.2
database_cross_reference: OMIM:601410
database_cross_reference: OMIM:610374
database_cross_reference: OMIM:610582
database_cross_reference: ORDO:99886
has_obo_namespace: disease_ontology
id: DOID:0060334
in_subset: DO_rare_slim

Axiom
annotated source: transient neonatal diabetes mellitus
annotated property: definition
annotated target: A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17349054

autosomal dominant sideroblastic anemia 4
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 8955
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
created_by: emitraka
creation_date: 2015-04-16T10:44:34Z
database_cross_reference: OMIM:182170
has_obo_namespace: disease_ontology
id: DOID:0060335

Axiom
annotated source: autosomal dominant sideroblastic anemia 4
annotated property: definition
annotated target: A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Sideroblastic_anemia

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.
created_by: emitraka
creation_date: 2015-04-16T10:50:48Z
database_cross_reference: ICD10CM:E71.111
database_cross_reference: MESH:C579867
database_cross_reference: OMIM:PS250950
database_cross_reference: ORDO:289902
has_obo_namespace: disease_ontology
id: DOID:0060336
in_subset: DO_rare_slim

Axiom
annotated source: 3-methylglutaconic aciduria
annotated property: definition
annotated target: An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria

CEDNIK syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
created_by: emitraka
creation_date: 2015-05-11T10:31:37Z
database_cross_reference: MESH:C537943
database_cross_reference: OMIM:609528
database_cross_reference: ORDO:66631
database_cross_reference: SNOMEDCT_US_2022_09_01:722385008
database_cross_reference: UMLS_CUI:C1836033
has_exact_synonym: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
has_obo_namespace: disease_ontology
id: DOID:0060337
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
comment: Flybase.

Axiom
annotated source: CEDNIK syndrome
annotated property: definition
annotated target: A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21073448

parameningeal embryonal rhabdomyosarcoma
type: Class
subclass of: DOID 3246
definition: An embryonal rhabdomyosarcoma located in the parameningeal region.
created_by: emitraka
creation_date: 2015-05-14T14:32:27Z
has_obo_namespace: disease_ontology
id: DOID:0060338

Axiom
annotated source: parameningeal embryonal rhabdomyosarcoma
annotated property: definition
annotated target: An embryonal rhabdomyosarcoma located in the parameningeal region.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10717216
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23021437

chronic atrial and intestinal dysrhythmia
type: Class
subclass of: DOID 225
definition: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
created_by: emitraka
creation_date: 2015-05-18T15:37:53Z
database_cross_reference: OMIM:616201
has_exact_synonym: CAID syndrome
has_obo_namespace: disease_ontology
id: DOID:0060339

Axiom
annotated source: chronic atrial and intestinal dysrhythmia
annotated property: definition
annotated target: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25282101

ciliopathy
type: Class
subclass of: monogenic disease
subclass of: DOID 225
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.
created_by: emitraka
creation_date: 2015-05-21T10:41:29Z
has_obo_namespace: disease_ontology
id: DOID:0060340

Axiom
annotated source: ciliopathy
annotated property: definition
annotated target: A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Ciliopathy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18178628
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21210154

agnathia-otocephaly complex
type: Class
subclass of: DOID_0080015
definition: A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
created_by: emitraka
creation_date: 2015-05-26T16:14:08Z
database_cross_reference: ICD10CM:Q18.2
database_cross_reference: MESH:C562503
database_cross_reference: OMIM:202650
database_cross_reference: ORDO:990
has_exact_synonym: agnathia-holoprosencephaly-situs inversus syndrome
has_exact_synonym: dysgnathia complex agnathia-holoprosencephaly
has_exact_synonym: holoprosencephaly-agnathia
has_exact_synonym: otocephaly
has_obo_namespace: disease_ontology
id: DOID:0060341
in_subset: DO_rare_slim

Axiom
annotated source: agnathia-otocephaly complex
annotated property: definition
annotated target: A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17438667

acromelic frontonasal dysostosis
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 1934
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.
created_by: emitraka
creation_date: 2015-05-26T16:44:46Z
database_cross_reference: GARD:5539
database_cross_reference: MESH:C566345
database_cross_reference: OMIM:603671
database_cross_reference: ORDO:1827
has_obo_namespace: disease_ontology
id: DOID:0060342

Axiom
annotated source: acromelic frontonasal dysostosis
annotated property: definition
annotated target: A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15264282

glucocorticoid-induced osteoporosis
type: Class
subclass of: DOID_11476
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000369
definition: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
created_by: emitraka
creation_date: 2015-05-27T17:07:43Z
has_exact_synonym: steroid-induced osteoporosis
has_obo_namespace: disease_ontology
id: DOID:0060343

Axiom
annotated source: glucocorticoid-induced osteoporosis
annotated property: definition
annotated target: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17566815
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22870429

acrodermatitis chronica atrophicans
type: Class
subclass of: DOID 2722
definition: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
created_by: emitraka
creation_date: 2015-05-28T14:45:56Z
database_cross_reference: ICD9CM:701.8
database_cross_reference: SNOMEDCT_US_2022_09_01:201088002
database_cross_reference: UMLS_CUI:C0029805
has_exact_synonym: Herxheimer disease
has_exact_synonym: primary diffuse atrophy
has_obo_namespace: disease_ontology
id: DOID:0060344
in_subset: GOLD

Axiom
annotated source: acrodermatitis chronica atrophicans
annotated property: definition
annotated target: An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
dc:type: ECO_0007638
database_cross_reference: url:http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans
database_cross_reference: url:http://www.dermis.net/dermisroot/en/35111/diagnose.htm

bacillary angiomatosis
type: Class
subclass of: DOID_11102
definition: A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
created_by: emitraka
creation_date: 2015-05-28T16:26:12Z
database_cross_reference: MESH:D016917
database_cross_reference: NCI:C3477
database_cross_reference: SNOMEDCT_US_2022_09_01:58213005
database_cross_reference: UMLS_CUI:C0085434
has_obo_namespace: disease_ontology
id: DOID:0060345
in_subset: DO_infectious_disease_slim
in_subset: GOLD
in_subset: NCIthesaurus

Axiom
annotated source: bacillary angiomatosis
annotated property: definition
annotated target: A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9407154

Native American myopathy
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 440
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_0000369
definition: A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.
created_by: emitraka
creation_date: 2015-06-01T17:47:31Z
database_cross_reference: GARD:8432
database_cross_reference: MESH:C538343
database_cross_reference: OMIM:255995
database_cross_reference: ORDO:168572
database_cross_reference: SNOMEDCT_US_2022_09_01:723439002
database_cross_reference: UMLS_CUI:C1850625
has_obo_namespace: disease_ontology
id: DOID:0060346
in_subset: DO_rare_slim

Axiom
annotated source: Native American myopathy
annotated property: definition
annotated target: A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18553514

acrorenal syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
created_by: emitraka
creation_date: 2015-06-04T14:51:42Z
database_cross_reference: MESH:C563159
database_cross_reference: OMIM:102520
database_cross_reference: OMIM:201310
database_cross_reference: SNOMEDCT_US_2022_09_01:720458005
database_cross_reference: UMLS_CUI:C3495490
has_obo_namespace: disease_ontology
id: DOID:0060347

Axiom
annotated source: acrorenal syndrome
annotated property: definition
annotated target: A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26019842

hypoparathyroidism-retardation-dysmorphism syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.
created_by: elvira
creation_date: 2015-06-19T20:05:16Z
database_cross_reference: GARD:411
database_cross_reference: MESH:C537157
database_cross_reference: NCI:C133727
database_cross_reference: OMIM:241410
database_cross_reference: ORDO:2323
database_cross_reference: SNOMEDCT_US_2022_09_01:1197148005
database_cross_reference: UMLS_CUI:C1855840
has_exact_synonym: HRD syndrome
has_exact_synonym: Sanjad-Sakati syndrome
has_exact_synonym: hypoparathyroidism with short stature, mental retardation and seizures
has_obo_namespace: disease_ontology
id: DOID:0060348
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: hypoparathyroidism-retardation-dysmorphism syndrome
annotated property: definition
annotated target: A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15645691
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24339556

microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
created_by: elvira
creation_date: 2015-06-24T22:12:55Z
database_cross_reference: MESH:C537711
database_cross_reference: OMIM:152950
database_cross_reference: ORDO:2526
database_cross_reference: UMLS_CUI:C1835265
has_exact_synonym: chorioretinal dysplasia-microcephaly-mental retardation syndrome
has_exact_synonym: lymphedema and retinal folds with ficrocephaly and microphthalmos
has_exact_synonym: lymphedema, microcephaly and chorioretinopathy syndrome
has_exact_synonym: microcephaly lymphedema chorioretinal dysplasia
has_exact_synonym: microcephaly, lymphedema, chorioretinal dysplasia syndrome
has_obo_namespace: disease_ontology
id: DOID:0060349
in_subset: DO_rare_slim

Axiom
annotated source: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
annotated property: definition
annotated target: A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10482868
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11302131
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25124931
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/5936364

adenine phosphoribosyltransferase deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 653
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
created_by: elvira
creation_date: 2015-07-02T16:06:22Z
database_cross_reference: GARD:10666
database_cross_reference: GARD:546
database_cross_reference: MESH:C538228
database_cross_reference: NCI:C121564
database_cross_reference: OMIM:614723
database_cross_reference: SNOMEDCT_US_2022_09_01:11852004
database_cross_reference: UMLS_CUI:C0268120
database_cross_reference: UMLS_CUI:C3665382
has_exact_synonym: 2,8-dihydroxyadenine urolithiasis
has_exact_synonym: APRT deficiency
has_obo_namespace: disease_ontology
id: DOID:0060350
in_subset: NCIthesaurus

Axiom
annotated source: adenine phosphoribosyltransferase deficiency
annotated property: definition
annotated target: A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency
database_cross_reference: url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/22700886/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/8864750/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20150536

mitochondrial complex III deficiency nuclear type 2
type: Class
subclass of: DOID_0111139
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
created_by: elvira
creation_date: 2015-07-14T16:24:56Z
database_cross_reference: OMIM:615157
has_exact_synonym: MC3DN2
has_obo_namespace: disease_ontology
id: DOID:0060351
in_subset: DO_FlyBase_slim

Axiom
annotated source: mitochondrial complex III deficiency nuclear type 2
annotated property: definition
annotated target: A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.omim.org/entry/615157
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21278747

Kleefstra syndrome 1
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: DOID_0080597
subclass of: Class
  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
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
created_by: elvira
creation_date: 2015-07-14T16:49:09Z
has_alternative_id: DOID:0070075
database_cross_reference: GARD:8672
database_cross_reference: MESH:C563043
database_cross_reference: NCI:C129976
database_cross_reference: OMIM:610253
database_cross_reference: ORDO:261494
database_cross_reference: UMLS_CUI:C0795833
has_exact_synonym: 9q subtelomeric deletion syndrome
has_exact_synonym: 9q-syndrome
has_exact_synonym: 9q34 deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060352
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Kleefstra syndrome 1
annotated property: definition
annotated target: Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15264279
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16826528
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21245904

acrofacial dysostosis Cincinnati type
type: Class
subclass of: autosomal dominant disease
subclass of: acrofacial dysostosis
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_0000272
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0000347
definition: An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
created_by: elvira
creation_date: 2015-07-15T16:37:59Z
database_cross_reference: OMIM:616462
has_obo_namespace: disease_ontology
id: DOID:0060353

Axiom
annotated source: acrofacial dysostosis Cincinnati type
annotated property: definition
annotated target: An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25913037

Stormorken syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2218
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
created_by: elvira
creation_date: 2015-07-16T16:30:32Z
database_cross_reference: MESH:C566108
database_cross_reference: OMIM:185070
database_cross_reference: ORDO:3204
database_cross_reference: SNOMEDCT_US_2022_09_01:711407000
database_cross_reference: UMLS_CUI:C1861451
has_exact_synonym: thrombocytopathy, asplenia and miosis
has_obo_namespace: disease_ontology
id: DOID:0060354
in_subset: DO_rare_slim

Axiom
annotated source: Stormorken syndrome
annotated property: definition
annotated target: A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/stormorken-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24619930
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25577287

amyotrophic lateral sclerosis type 22
type: Class
subclass of: DOID 332
definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35.
created_by: elvira
creation_date: 2015-07-22T11:37:41Z
database_cross_reference: OMIM:616208
has_exact_synonym: ALS 22
has_exact_synonym: amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
has_exact_synonym: amyotrophic lateral sclerosis 22
has_obo_namespace: disease_ontology
id: DOID:0060355
in_subset: DO_rare_slim

Axiom
annotated source: amyotrophic lateral sclerosis type 22
annotated property: definition
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/616208

Vici syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
created_by: elvira
creation_date: 2015-08-19T16:22:27Z
database_cross_reference: GARD:448
database_cross_reference: MESH:C535566
database_cross_reference: NCI:C138174
database_cross_reference: OMIM:242840
database_cross_reference: ORDO:1493
database_cross_reference: SNOMEDCT_US_2022_09_01:719824001
database_cross_reference: UMLS_CUI:C1855772
has_exact_synonym: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
has_obo_namespace: disease_ontology
id: DOID:0060356
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Vici syndrome
annotated property: definition
annotated target: A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Vici_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21965116
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23222957

chylomicron retention disease
type: Class
subclass of: DOID 3146
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
created_by: elvira
creation_date: 2015-08-20T12:44:44Z
database_cross_reference: GARD:9683
database_cross_reference: ICD10CM:E78.3
database_cross_reference: MESH:C535460
database_cross_reference: OMIM:246700
database_cross_reference: ORDO:71
database_cross_reference: SNOMEDCT_US_2022_09_01:702364003
database_cross_reference: UMLS_CUI:C0795956
has_exact_synonym: Anderson disease
has_exact_synonym: CMRD
has_obo_namespace: disease_ontology
id: DOID:0060357
in_subset: DO_rare_slim

Axiom
annotated source: chylomicron retention disease
annotated property: definition
annotated target: A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10521380
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20920215
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3430059
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3792776

multiple acyl-CoA dehydrogenase deficiency
type: Class
subclass of: DOID 655
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0032245
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
created_by: elvira
creation_date: 2015-08-20T16:23:47Z
database_cross_reference: ICD10CM:E71.313
database_cross_reference: MESH:D054069
database_cross_reference: NCI:C84907
database_cross_reference: OMIM:231680
database_cross_reference: ORDO:26791
database_cross_reference: SNOMEDCT_US_2022_09_01:22886006
database_cross_reference: UMLS_CUI:C0268596
database_cross_reference: UMLS_CUI:C1856401
database_cross_reference: UMLS_CUI:C1856403
database_cross_reference: UMLS_CUI:C1856405
has_exact_synonym: MAD deficiency
has_exact_synonym: MADD
has_exact_synonym: electron transfer flavoprotein deficiency
has_exact_synonym: electron transfer flavoprotein ubiquinone oxidoreductase deficiency
has_exact_synonym: glutaric acidemia type 2
has_exact_synonym: glutaric aciduria type 2
has_obo_namespace: disease_ontology
id: DOID:0060358
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: multiple acyl-CoA dehydrogenase deficiency
annotated property: definition
annotated target: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii
database_cross_reference: url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12815589
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22580358

Sakati-Nyhan syndrome
type: Class
subclass of: DOID_12960
definition: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
created_by: elvira
creation_date: 2015-09-03T14:23:46Z
database_cross_reference: GARD:115
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MESH:C537227
database_cross_reference: OMIM:101120
database_cross_reference: ORDO:3128
has_exact_synonym: ACPS with leg hypoplasia
has_exact_synonym: Sakati syndrome
has_exact_synonym: Sakati-Nyhan-Tisdale syndrome
has_exact_synonym: acrocephalopolysyndactyly Type III
has_exact_synonym: acrocephalopolysyndactyly type 3
has_obo_namespace: disease_ontology
id: DOID:0060359
in_subset: DO_rare_slim

Axiom
annotated source: Sakati-Nyhan syndrome
annotated property: definition
annotated target: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome

hereditary papulotranslucent acrokeratoderma
type: Class
subclass of: DOID 869
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000346
definition: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
created_by: elvira
creation_date: 2015-09-03T14:36:52Z
database_cross_reference: MESH:C566323
database_cross_reference: OMIM:101840
has_obo_namespace: disease_ontology
id: DOID:0060360

Axiom
annotated source: hereditary papulotranslucent acrokeratoderma
annotated property: definition
annotated target: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16409913

punctate palmoplantar keratoderma
type: Class
subclass of: DOID 3390
definition: A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
created_by: elvira
creation_date: 2015-09-03T14:50:46Z
database_cross_reference: ORDO:307967
database_cross_reference: SNOMEDCT_US_2022_09_01:402773000
database_cross_reference: UMLS_CUI:C1274216
has_exact_synonym: punctate palmoplantar hyperkeratosis
has_obo_namespace: disease_ontology
has_related_synonym: punctate keratosis palmoplantaris
id: DOID:0060361
in_subset: DO_rare_slim

Axiom
annotated source: punctate palmoplantar keratoderma
annotated property: definition
annotated target: A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate

punctate palmoplantar keratoderma type III
type: Class
subclass of: autosomal dominant disease
subclass of: punctate palmoplantar keratoderma
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
created_by: elvira
creation_date: 2015-09-03T15:31:19Z
database_cross_reference: MESH:C535653
database_cross_reference: OMIM:101850
database_cross_reference: ORDO:38
database_cross_reference: SNOMEDCT_US_2022_09_01:111029001
database_cross_reference: UMLS_CUI:C0545044
has_exact_synonym: acrokeratoelastoidosis of Costa
has_exact_synonym: punctate palmoplantar hyperkeratosis type 3
has_exact_synonym: punctate palmoplantar keratoderma type 3
has_obo_namespace: disease_ontology
id: DOID:0060362
in_subset: DO_rare_slim

Axiom
annotated source: punctate palmoplantar keratoderma type III
annotated property: definition
annotated target: A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i

glycerol kinase deficiency
type: Class
subclass of: DOID 655
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
created_by: elvira
creation_date: 2015-09-17T15:45:20Z
database_cross_reference: OMIM:307030
database_cross_reference: ORDO:408
database_cross_reference: SNOMEDCT_US_2022_09_01:297256008
database_cross_reference: UMLS_CUI:C0574108
has_obo_namespace: disease_ontology
id: DOID:0060363
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim

Axiom
annotated source: glycerol kinase deficiency
annotated property: definition
annotated target: An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22427807

Galloway-Mowat syndrome 1
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080694
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
created_by: elvira
creation_date: 2015-09-17T16:00:31Z
database_cross_reference: OMIM:251300
has_exact_synonym: Galloway syndrome
has_exact_synonym: microcephaly, hiatal hernia and nephrotic syndrome
has_exact_synonym: nephrosis-microcephaly syndrome
has_exact_synonym: nephrosis-neuronal dysmigration syndrome
has_obo_namespace: disease_ontology
id: DOID:0060364
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Galloway-Mowat syndrome 1
annotated property: definition
annotated target: A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/26123727/

mandibulofacial dysostosis with alopecia
type: Class
subclass of: DOID 225
definition: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
created_by: elvira
creation_date: 2015-09-17T16:20:00Z
database_cross_reference: OMIM:616367
has_exact_synonym: MFDA
has_obo_namespace: disease_ontology
id: DOID:0060365

Axiom
annotated source: mandibulofacial dysostosis with alopecia
annotated property: definition
annotated target: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25772936

Hennekam syndrome
type: Class
subclass of: DOID 75
definition: A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
created_by: elvira
creation_date: 2015-09-17T16:36:59Z
database_cross_reference: GARD:3318
database_cross_reference: MESH:C537255
database_cross_reference: OMIM:235510
database_cross_reference: OMIM:616006
database_cross_reference: ORDO:2136
database_cross_reference: SNOMEDCT_US_2022_09_01:234146006
database_cross_reference: UMLS_CUI:C0340834
has_exact_synonym: Hennekam lymphangiectasia-lymphedema syndrome
has_exact_synonym: lymphedem-lymphangiectasia-intellectual disability syndrome
has_obo_namespace: disease_ontology
id: DOID:0060366
in_subset: DO_rare_slim

Axiom
annotated source: Hennekam syndrome
annotated property: definition
annotated target: A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/hennekam-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Hennekam_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14564208
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24870712
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2624276

Parkinson's disease 1
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_0060892
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1.
created_by: elvira
creation_date: 2015-09-17T16:48:14Z
database_cross_reference: OMIM:168601
has_exact_synonym: autosomal dominant Parkinson disease 1
has_exact_synonym: autosomal dominant Parkinson's disease 1
has_obo_namespace: disease_ontology
id: DOID:0060367
in_subset: DO_rare_slim

Axiom
annotated source: Parkinson's disease 1
annotated property: definition
annotated target: A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://www.omim.org/entry/168601
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22315721

Parkinson's disease 2
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0060894
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
created_by: elvira
creation_date: 2015-09-17T16:56:33Z
database_cross_reference: OMIM:600116
has_exact_synonym: autosomal recessive juvenile Parkinson disease 2
has_exact_synonym: autosomal recessive juvenile Parkinson's disease 2
has_obo_namespace: disease_ontology
id: DOID:0060368
in_subset: DO_rare_slim

Axiom
annotated source: Parkinson's disease 2
annotated property: definition
annotated target: An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22315721

Parkinson's disease 6
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0060894
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
created_by: elvira
creation_date: 2015-09-17T17:00:11Z
database_cross_reference: OMIM:605909
has_exact_synonym: autosomal recessive early-onset Parkinson disease 6
has_exact_synonym: autosomal recessive early-onset Parkinson's disease 6
has_exact_synonym: early-onset Parkinson disease 6
has_obo_namespace: disease_ontology
id: DOID:0060369
in_subset: DO_rare_slim

Axiom
annotated source: Parkinson's disease 6
annotated property: definition
annotated target: An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22315721

Parkinson's disease 7
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0060894
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
created_by: elvira
creation_date: 2015-09-17T17:04:57Z
database_cross_reference: OMIM:606324
has_exact_synonym: autosomal recessive early-onset Parkinson disease 7
has_exact_synonym: autosomal recessive early-onset Parkinson's disease 7
has_obo_namespace: disease_ontology
id: DOID:0060370
in_subset: DO_rare_slim

Axiom
annotated source: Parkinson's disease 7
annotated property: definition
annotated target: An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22315721

Parkinson's disease 8
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_0060892
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.
created_by: elvira
creation_date: 2015-09-17T17:07:35Z
database_cross_reference: OMIM:607060
has_exact_synonym: autosomal dominant Parkinson disease 8
has_exact_synonym: autosomal dominant Parkinson's disease 8
has_obo_namespace: disease_ontology
id: DOID:0060371
in_subset: DO_rare_slim

Axiom
annotated source: Parkinson's disease 8
annotated property: definition
annotated target: A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22315721

Parkinson's disease 15
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0060894
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.
created_by: elvira
creation_date: 2015-09-17T17:13:37Z
database_cross_reference: OMIM:260300
has_exact_synonym: Parkinsonian-pyramidal syndrome
has_exact_synonym: autosomal recessive early-onset Parkinson disease 15
has_exact_synonym: autosomal recessive early-onset Parkinson's disease 15
has_exact_synonym: pallidopyramidal syndrome
has_obo_namespace: disease_ontology
id: DOID:0060372
in_subset: DO_rare_slim

Axiom
annotated source: Parkinson's disease 15
annotated property: definition
annotated target: An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22315721

orofaciodigital syndrome III
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 4501
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance.
created_by: elvira
creation_date: 2015-09-18T14:58:32Z
database_cross_reference: MESH:C557817
database_cross_reference: OMIM:258850
database_cross_reference: ORDO:2752
database_cross_reference: SNOMEDCT_US_2022_09_01:239030004
database_cross_reference: UMLS_CUI:C0406726
has_exact_synonym: Sugarman syndrome
has_obo_namespace: disease_ontology
id: DOID:0060373
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome III
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3

orofaciodigital syndrome IV
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 4501
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
created_by: elvira
creation_date: 2015-09-18T15:00:19Z
database_cross_reference: MESH:C537133
database_cross_reference: OMIM:258860
database_cross_reference: ORDO:2753
database_cross_reference: SNOMEDCT_US_2022_09_01:239031000
database_cross_reference: UMLS_CUI:C0406727
has_exact_synonym: Baraitser-Burn syndrome
has_exact_synonym: OFD4
has_obo_namespace: disease_ontology
id: DOID:0060374
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome IV
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4

orofaciodigital syndrome V
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 4501
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
created_by: elvira
creation_date: 2015-09-18T15:00:19Z
database_cross_reference: MESH:C557819
database_cross_reference: OMIM:174300
database_cross_reference: ORDO:2919
database_cross_reference: SNOMEDCT_US_2022_09_01:722105002
database_cross_reference: UMLS_CUI:C1868118
has_exact_synonym: OFD5
has_exact_synonym: orofaciodigital syndrome Thurston type
has_exact_synonym: polydactyly, postaxial, with median cleft of upper lip
has_obo_namespace: disease_ontology
id: DOID:0060375
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome V
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23972372

Joubert syndrome with orofaciodigital defect
type: Class
subclass of: Joubert syndrome
definition: A Joubert syndrome that is characterized by orofaciodigital defect.
created_by: elvira
creation_date: 2015-09-18T15:00:19Z
database_cross_reference: GARD:4412
database_cross_reference: MESH:C536531
database_cross_reference: NCI:C124841
database_cross_reference: OMIM:277170
database_cross_reference: ORDO:2754
database_cross_reference: SNOMEDCT_US_2022_09_01:721873007
database_cross_reference: UMLS_CUI:C2745997
has_exact_synonym: OFD6
has_exact_synonym: Polydactyly cleft lip palate psychomotor retardation
has_exact_synonym: Varadi syndrome
has_exact_synonym: Varadi-Papp syndrome
has_exact_synonym: orofaciodigital syndrome VI
has_obo_namespace: disease_ontology
id: DOID:0060376
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Joubert syndrome with orofaciodigital defect
annotated property: definition
annotated target: A Joubert syndrome that is characterized by orofaciodigital defect.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23716954

orofaciodigital syndrome VII
type: Class
subclass of: DOID 4501
definition: An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.
created_by: elvira
creation_date: 2015-09-18T15:00:19Z
database_cross_reference: MESH:C563104
database_cross_reference: OMIM:608518
database_cross_reference: ORDO:90649
has_exact_synonym: OFD7
has_exact_synonym: Whelan syndrome
has_obo_namespace: disease_ontology
id: DOID:0060377
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome VII
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.
dc:type: ECO_0007636
database_cross_reference: url:https://omim.org/entry/608518

orofaciodigital syndrome VIII
type: Class
subclass of: DOID_0080012
subclass of: DOID 4501
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
created_by: elvira
creation_date: 2015-09-18T15:00:19Z
database_cross_reference: MESH:C557820
database_cross_reference: OMIM:300484
database_cross_reference: ORDO:2755
database_cross_reference: SNOMEDCT_US_2022_09_01:722106001
database_cross_reference: UMLS_CUI:C0796101
has_exact_synonym: Edwards syndrome
has_exact_synonym: OFD8
has_obo_namespace: disease_ontology
id: DOID:0060378
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome VIII
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8

acrofacial dysostosis
type: Class
subclass of: DOID 1934
definition: A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
created_by: elvira
creation_date: 2015-09-21T15:24:28Z
has_obo_namespace: disease_ontology
id: DOID:0060379

Axiom
annotated source: acrofacial dysostosis
annotated property: definition
annotated target: A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis

orofaciodigital syndrome X
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 4501
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
created_by: elvira
creation_date: 2015-09-18T15:00:20Z
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: MESH:C563491
database_cross_reference: OMIM:165590
database_cross_reference: ORDO:2756
has_exact_synonym: OFD10
has_exact_synonym: orofaciodigital syndrome with fibular aplasia
has_obo_namespace: disease_ontology
id: DOID:0060380
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome X
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
dc:type: ECO_0007636
database_cross_reference: url:https://omim.org/entry/165590

orofaciodigital syndrome XI
type: Class
subclass of: DOID 4501
definition: An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.
created_by: elvira
creation_date: 2015-09-18T15:00:20Z
database_cross_reference: MESH:C557821
database_cross_reference: OMIM:612913
database_cross_reference: ORDO:141000
database_cross_reference: SNOMEDCT_US_2022_09_01:718681002
database_cross_reference: UMLS_CUI:C2752048
has_obo_namespace: disease_ontology
id: DOID:0060381
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome XI
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11

orofaciodigital syndrome IX
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 4501
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
created_by: elvira
creation_date: 2015-09-18T15:24:17Z
database_cross_reference: GARD:10520
database_cross_reference: MESH:C557818
database_cross_reference: OMIM:258865
database_cross_reference: ORDO:141007
database_cross_reference: SNOMEDCT_US_2022_09_01:718680001
database_cross_reference: UMLS_CUI:C0796102
has_exact_synonym: OFD9
has_exact_synonym: orofaciodigital syndrome with retinal abnormalities
has_obo_namespace: disease_ontology
id: DOID:0060382
in_subset: DO_rare_slim

Axiom
annotated source: orofaciodigital syndrome IX
annotated property: definition
annotated target: An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18000902

acrofacial dysostosis Rodriguez type
type: Class
subclass of: acrofacial dysostosis
definition: An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.
created_by: elvira
creation_date: 2015-09-21T15:30:41Z
database_cross_reference: GARD:496
database_cross_reference: MESH:C538183
database_cross_reference: OMIM:201170
database_cross_reference: ORDO:1788
database_cross_reference: SNOMEDCT_US_2022_09_01:720430002
database_cross_reference: UMLS_CUI:C1860119
has_exact_synonym: acrofacial dysostosis, syndrome of Rodriguez
has_obo_namespace: disease_ontology
id: DOID:0060383
in_subset: DO_rare_slim

Axiom
annotated source: acrofacial dysostosis Rodriguez type
annotated property: definition
annotated target: An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type

acrofacial dysostosis, Catania type
type: Class
subclass of: acrofacial dysostosis
definition: An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
created_by: elvira
creation_date: 2015-09-21T15:34:09Z
database_cross_reference: GARD:494
database_cross_reference: MESH:C538182
database_cross_reference: OMIM:101805
database_cross_reference: ORDO:1786
database_cross_reference: SNOMEDCT_US_2022_09_01:720419000
database_cross_reference: UMLS_CUI:C2931762
has_exact_synonym: Opitz Mollica Sorge syndrome
has_exact_synonym: Opitz-Caltabiano syndrome
has_obo_namespace: disease_ontology
id: DOID:0060384
in_subset: DO_rare_slim

Axiom
annotated source: acrofacial dysostosis, Catania type
annotated property: definition
annotated target: An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type

acrofacial dysostosis, Patagonia type
type: Class
subclass of: acrofacial dysostosis
definition: An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.
created_by: elvira
creation_date: 2015-09-21T15:38:31Z
database_cross_reference: MESH:C538185
database_cross_reference: OMIM:601829
database_cross_reference: ORDO:1787
database_cross_reference: SNOMEDCT_US_2022_09_01:720429007
database_cross_reference: UMLS_CUI:C1866168
has_obo_namespace: disease_ontology
id: DOID:0060385
in_subset: DO_rare_slim

Axiom
annotated source: acrofacial dysostosis, Patagonia type
annotated property: definition
annotated target: An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance.
dc:type: ECO_0007636
database_cross_reference: url:https://omim.org/entry/601829

Chilblain lupus
type: Class
subclass of: cutaneous lupus erythematosus
definition: A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.
created_by: elvira
creation_date: 2015-09-22T17:10:37Z
database_cross_reference: MESH:C535924
database_cross_reference: OMIM:610448
database_cross_reference: OMIM:614415
database_cross_reference: ORDO:90280
database_cross_reference: UMLS_CUI:C0024145
has_obo_namespace: disease_ontology
id: DOID:0060386
in_subset: DO_rare_slim

Axiom
annotated source: Chilblain lupus
annotated property: definition
annotated target: A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/610448

chondrodysplasia Blomstrand type
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
created_by: elvira
creation_date: 2015-09-24T16:23:12Z
database_cross_reference: GARD:914
database_cross_reference: MESH:C537914
database_cross_reference: NCI:C131420
database_cross_reference: OMIM:215045
database_cross_reference: ORDO:50945
database_cross_reference: UMLS_CUI:C1859148
has_exact_synonym: Blomstrand lethal chondrodysplasia
has_obo_namespace: disease_ontology
id: DOID:0060387
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: chondrodysplasia Blomstrand type
annotated property: definition
annotated target: An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type

chromosomal deletion syndrome
type: Class
equivalent class: Class
  intersection of: DOID 4
  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
subclass of: DOID_0080014
definition: A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
created_by: elvira
creation_date: 2015-09-28T15:48:41Z
has_obo_namespace: disease_ontology
id: DOID:0060388

Axiom
annotated source: chromosomal deletion syndrome
annotated property: definition
annotated target: A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome
database_cross_reference: url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK23758/

chromosome 10q23 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.
created_by: elvira
creation_date: 2015-09-28T15:50:18Z
database_cross_reference: MESH:C567385
database_cross_reference: OMIM:612242
has_obo_namespace: disease_ontology
id: DOID:0060389

Axiom
annotated source: chromosome 10q23 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/21248748

distal 10q deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.
created_by: elvira
creation_date: 2015-09-28T16:08:42Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C567182
database_cross_reference: OMIM:609625
database_cross_reference: ORDO:96148
has_exact_synonym: chromosome 10q26 deletion syndrome
has_exact_synonym: distal monosomy 10q
has_exact_synonym: monosomy 10qter
has_exact_synonym: telomeric deletion 10q
has_exact_synonym: terminal chromosome 10q26 deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060390
in_subset: DO_rare_slim

Axiom
annotated source: distal 10q deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion

chromosome 13q14 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.
created_by: elvira
creation_date: 2015-09-28T16:14:46Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613884
database_cross_reference: ORDO:1587
has_exact_synonym: deletion 13q14
has_obo_namespace: disease_ontology
id: DOID:0060391
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 13q14 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.
dc:type: ECO_0007636
database_cross_reference: url:https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/

chromosome 14q11-q22 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.
created_by: elvira
creation_date: 2015-09-28T16:18:44Z
database_cross_reference: OMIM:613457
database_cross_reference: ORDO:261120
has_exact_synonym: 14q11.2 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060392
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 14q11-q22 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/21744488

chromosome 15q11.2 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
created_by: elvira
creation_date: 2015-09-28T16:21:07Z
database_cross_reference: OMIM:615656
database_cross_reference: ORDO:261183
database_cross_reference: UMLS_CUI:C3180937
has_exact_synonym: 15q11.2 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060393
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 15q11.2 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/615656

chromosome 15q13.3 microdeletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
created_by: elvira
creation_date: 2015-09-28T16:23:21Z
database_cross_reference: GARD:10296
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C567439
database_cross_reference: OMIM:612001
database_cross_reference: ORDO:199318
has_exact_synonym: 15q13.3 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060394
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 15q13.3 microdeletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome

chromosome 15q24 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.
created_by: elvira
creation_date: 2015-09-28T16:25:55Z
database_cross_reference: GARD:12219
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C579849
database_cross_reference: OMIM:613406
database_cross_reference: ORDO:94065
has_exact_synonym: 15q24 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060395
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 15q24 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/613406

chromosome 15q25 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.
created_by: elvira
creation_date: 2015-09-28T16:28:12Z
database_cross_reference: OMIM:614294
has_obo_namespace: disease_ontology
id: DOID:0060396

Axiom
annotated source: chromosome 15q25 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.
dc:type: ECO_0007637
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion

chromosome 15q26-qter deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
created_by: elvira
creation_date: 2015-09-28T16:30:51Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C567232
database_cross_reference: OMIM:612626
database_cross_reference: ORDO:1596
has_exact_synonym: 15q26 deletion syndrome
has_exact_synonym: Drayer syndrome
has_exact_synonym: distal 15q deletion syndrome
has_exact_synonym: distal monosomy 15q
has_exact_synonym: telomeric 15q deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060397
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 15q26-qter deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18651844

chromosome 16p11.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.
created_by: elvira
creation_date: 2015-09-28T16:35:34Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613444
database_cross_reference: ORDO:261222
has_exact_synonym: distal 16p11.2 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060398
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 16p11.2 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/20808231

chromosome 16p12.1 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
created_by: elvira
creation_date: 2015-09-28T16:36:57Z
database_cross_reference: OMIM:136570
has_obo_namespace: disease_ontology
id: DOID:0060399

Axiom
annotated source: chromosome 16p12.1 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20154674

chromosome 16p12.2-p11.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
created_by: elvira
creation_date: 2015-09-28T16:42:38Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613604
database_cross_reference: ORDO:261211
has_exact_synonym: 16p11.2-p12.2 microdeletion syndrome
has_exact_synonym: 16p11.2p12.2 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060400
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 16p12.2-p11.2 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19449418

chromosome 16q22 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
created_by: elvira
creation_date: 2015-09-28T16:46:03Z
database_cross_reference: OMIM:614541
has_obo_namespace: disease_ontology
id: DOID:0060401

Axiom
annotated source: chromosome 16q22 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1605249

chromosome 17p13.1 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
created_by: elvira
creation_date: 2015-09-28T16:49:53Z
database_cross_reference: GARD:10996
database_cross_reference: MESH:D054221
database_cross_reference: OMIM:613776
has_obo_namespace: disease_ontology
id: DOID:0060402

Axiom
annotated source: chromosome 17p13.1 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19617690

chromosome 17q11.2 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
created_by: elvira
creation_date: 2015-09-28T16:52:05Z
database_cross_reference: ICD10CM:Q85.0
database_cross_reference: MESH:C563524
database_cross_reference: OMIM:613675
database_cross_reference: ORDO:97685
has_exact_synonym: 17q11 microdeletion syndrome
has_exact_synonym: NF1 microdeletion syndrome
has_exact_synonym: Van Asperen syndrome
has_exact_synonym: neurofibromatosis type 1 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060403
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 17q11.2 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/10631140/

chromosome 17q12 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
created_by: elvira
creation_date: 2015-09-28T16:55:38Z
database_cross_reference: GARD:13297
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:614527
database_cross_reference: ORDO:261265
has_exact_synonym: 17q12 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060404
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 17q12 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome

chromosome 17q23.1-q23.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
created_by: elvira
creation_date: 2015-09-28T16:58:27Z
database_cross_reference: GARD:10936
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613355
database_cross_reference: ORDO:261279
has_exact_synonym: 17q23.1-q23.2 microdeletion syndrome
has_exact_synonym: 17q23.1q23.2 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060405
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 17q23.1-q23.2 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/20598276

chromosome 18p deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
created_by: elvira
creation_date: 2015-09-28T17:01:47Z
database_cross_reference: GARD:8631
database_cross_reference: MESH:C538309
database_cross_reference: NCI:C84521
database_cross_reference: OMIM:146390
database_cross_reference: ORDO:1598
database_cross_reference: SNOMEDCT_US_2022_09_01:205632001
database_cross_reference: UMLS_CUI:C0432442
has_exact_synonym: 18p- syndrome
has_exact_synonym: De Grouchy syndrome
has_exact_synonym: monosomy 18p
has_obo_namespace: disease_ontology
id: DOID:0060406
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: chromosome 18p deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/16691587

chromosome 18q deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
created_by: elvira
creation_date: 2015-09-28T17:05:53Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C536580
database_cross_reference: OMIM:601808
database_cross_reference: ORDO:1600
has_exact_synonym: 18q- syndrome
has_exact_synonym: deletion 18q
has_exact_synonym: monosomy 18q
has_obo_namespace: disease_ontology
id: DOID:0060407
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 18q deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome

chromosome 19q13.11 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.
created_by: elvira
creation_date: 2015-09-28T17:09:44Z
database_cross_reference: GARD:10592
database_cross_reference: MESH:C567810
database_cross_reference: OMIM:613026
database_cross_reference: ORDO:217346
database_cross_reference: UMLS_CUI:C2751651
has_exact_synonym: 19q13.11 microdeletion syndrome
has_exact_synonym: monosomy 19q13.11
has_obo_namespace: disease_ontology
id: DOID:0060408
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 19q13.11 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/24243649

NFIA-related disorder
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: DOID 225
subclass of: Class
  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
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 NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
created_by: elvira
creation_date: 2015-09-28T17:12:14Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C535594
database_cross_reference: OMIM:613735
database_cross_reference: ORDO:401986
has_exact_synonym: 1p31p32 microdeletion syndrome
has_exact_synonym: Chromosome 1, Monosomy 1p32
has_exact_synonym: brain malformations with or without urinary tract defects
has_exact_synonym: chromosome 1p32-p31 deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060409
in_subset: DO_rare_slim

Axiom
annotated source: NFIA-related disorder
annotated property: definition
annotated target: A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK542336/

chromosome 1p36 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
created_by: elvira
creation_date: 2015-09-28T17:14:10Z
database_cross_reference: GARD:6082
database_cross_reference: MESH:C535362
database_cross_reference: NCI:C74983
database_cross_reference: OMIM:607872
database_cross_reference: ORDO:1606
database_cross_reference: SNOMEDCT_US_2022_09_01:699306003
database_cross_reference: UMLS_CUI:C1842870
has_exact_synonym: 1p36 deletion syndrome
has_exact_synonym: deletion 1p36
has_exact_synonym: monosomy 1p36
has_obo_namespace: disease_ontology
has_related_synonym: subtelomeric 1p36 deletion
id: DOID:0060410
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: chromosome 1p36 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome

chromosome 1q21.1 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.
created_by: elvira
creation_date: 2015-09-28T17:17:38Z
database_cross_reference: GARD:10813
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:612474
database_cross_reference: ORDO:250989
has_exact_synonym: 1q21.1 microdeletion syndrome
has_obo_namespace: disease_ontology
has_related_synonym: monosomy 1q21.1
id: DOID:0060411
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 1q21.1 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/1q211-microdeletion

chromosome 1q41-q42 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
created_by: elvira
creation_date: 2015-09-28T17:24:43Z
database_cross_reference: GARD:3738
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:612530
database_cross_reference: ORDO:250999
has_exact_synonym: 1q41-q42 microdeletion syndrome
has_exact_synonym: 1q41q42 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060412
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 1q41-q42 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/16736036/

chromosome 22q11.2 deletion syndrome, distal
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
created_by: elvira
creation_date: 2015-09-28T17:28:28Z
database_cross_reference: MESH:C567511
database_cross_reference: OMIM:611867
database_cross_reference: ORDO:261330
has_exact_synonym: 22q11.2 deletion syndrome
has_exact_synonym: distal 22q11.2 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060413
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 22q11.2 deletion syndrome, distal
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18179902/

chromosome 2p12-p11.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region.
created_by: elvira
creation_date: 2015-09-28T17:31:12Z
database_cross_reference: OMIM:613564
has_obo_namespace: disease_ontology
id: DOID:0060414

Axiom
annotated source: chromosome 2p12-p11.2 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19764038/

chromosome 2p16.1-p15 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.
created_by: elvira
creation_date: 2015-09-28T17:32:44Z
database_cross_reference: GARD:13391
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C567289
database_cross_reference: OMIM:612513
database_cross_reference: ORDO:261349
has_exact_synonym: 2p15p16.1 microdeletion syndrome
has_obo_namespace: disease_ontology
has_related_synonym: 2p15-p16.1 microdeletion syndrome
id: DOID:0060415
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 2p16.1-p15 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/26019277/

chromosome 2q31.2 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region.
created_by: elvira
creation_date: 2015-09-28T17:36:55Z
database_cross_reference: MESH:C567344
database_cross_reference: OMIM:612345
has_obo_namespace: disease_ontology
id: DOID:0060416

Axiom
annotated source: chromosome 2q31.2 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19248183/

3p deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion 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_0000369
definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
created_by: elvira
creation_date: 2015-09-28T17:38:32Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:613792
database_cross_reference: ORDO:1620
has_exact_synonym: chromosome 3pter-P25 deletion syndrome
has_exact_synonym: distal monosomy 3p
has_obo_namespace: disease_ontology
id: DOID:0060417
in_subset: DO_rare_slim

Axiom
annotated source: 3p deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19760623

chromosome 3q13.31 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
created_by: elvira
creation_date: 2015-09-28T17:42:28Z
database_cross_reference: MESH:C536808
database_cross_reference: OMIM:615433
database_cross_reference: ORDO:1621
database_cross_reference: SNOMEDCT_US_2022_09_01:726705007
database_cross_reference: UMLS_CUI:C2931338
has_exact_synonym: 3q13 microdeletion syndrome
has_exact_synonym: monosomy 3q13
has_obo_namespace: disease_ontology
id: DOID:0060418
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 3q13.31 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/22180640/

chromosome 3q29 microdeletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.
created_by: elvira
creation_date: 2015-09-28T17:45:50Z
database_cross_reference: GARD:11974
database_cross_reference: MESH:C567184
database_cross_reference: OMIM:609425
database_cross_reference: ORDO:65286
has_exact_synonym: 3q subtelomere deletion syndrome
has_exact_synonym: 3q29 microdeletion syndrome
has_exact_synonym: 3q29 recurrent deletion
has_exact_synonym: 3qter deletion
has_obo_namespace: disease_ontology
id: DOID:0060419
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 3q29 microdeletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK385289/

chromosome 4q21 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region.
created_by: elvira
creation_date: 2015-09-28T17:49:18Z
database_cross_reference: OMIM:613509
database_cross_reference: ORDO:238750
has_exact_synonym: 4q21 microdeletion syndrome
has_exact_synonym: monosomy 4q21
has_obo_namespace: disease_ontology
id: DOID:0060420
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 4q21 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/20522426/

chromosome 5q12 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.
created_by: elvira
creation_date: 2015-09-28T17:52:47Z
database_cross_reference: OMIM:615668
has_obo_namespace: disease_ontology
id: DOID:0060421

Axiom
annotated source: chromosome 5q12 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/24203977/

chromosome 6pter-p24 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.
created_by: elvira
creation_date: 2015-09-28T17:55:16Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C567239
database_cross_reference: OMIM:612582
database_cross_reference: ORDO:96125
has_exact_synonym: 6p subtelomeric deletion syndrome
has_exact_synonym: 6p25 microdeletion syndrome
has_exact_synonym: distal monosomy 6p
has_obo_namespace: disease_ontology
id: DOID:0060422
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 6pter-p24 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18629875/

chromosome 6q11-q14 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.
created_by: elvira
creation_date: 2015-09-28T17:58:28Z
database_cross_reference: OMIM:613544
has_obo_namespace: disease_ontology
id: DOID:0060423

Axiom
annotated source: chromosome 6q11-q14 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19213033/

chromosome 6q24-q25 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region.
created_by: elvira
creation_date: 2015-09-28T17:59:36Z
database_cross_reference: OMIM:612863
database_cross_reference: ORDO:251056
has_exact_synonym: 6q25 microdeletion syndrome
has_exact_synonym: monosomy 6q25
has_obo_namespace: disease_ontology
id: DOID:0060424
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 6q24-q25 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/17512813/

chromosome 8q21.11 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.
created_by: elvira
creation_date: 2015-09-28T18:06:23Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: OMIM:614230
database_cross_reference: ORDO:284160
has_exact_synonym: 8q21.11 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060425
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 8q21.11 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/21802062/

chromosome 19p13.13 deletion syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.
created_by: elvira
creation_date: 2015-09-29T15:26:36Z
database_cross_reference: OMIM:613638
has_obo_namespace: disease_ontology
id: DOID:0060426

Axiom
annotated source: chromosome 19p13.13 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome

chromosome Xp21 deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region.
created_by: elvira
creation_date: 2015-09-29T16:13:28Z
database_cross_reference: ICD10CM:Q99.8
database_cross_reference: OMIM:300679
database_cross_reference: ORDO:261476
has_exact_synonym: Xp21 microdeletion syndrome
has_exact_synonym: complex glycerol kinase deficiency
has_exact_synonym: monosomy Xp21
has_obo_namespace: disease_ontology
id: DOID:0060427
in_subset: DO_rare_slim

Axiom
annotated source: chromosome Xp21 deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/17089405/

SATB2-associated syndrome
type: Class
subclass of: chromosomal deletion syndrome
subclass of: DOID 225
subclass of: Class
  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
definition: A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
created_by: elvira
creation_date: 2015-10-01T15:37:11Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C567350
database_cross_reference: OMIM:612313
database_cross_reference: ORDO:251019
has_exact_synonym: 2q32-q33 microdeletion syndrome
has_exact_synonym: 2q32q33 microdeletion syndrome
has_exact_synonym: Glass syndrome
has_exact_synonym: chromosome 2q32-q33 deletion syndrome
has_exact_synonym: monosomy 2q32
has_exact_synonym: monosomy 2q32-q33
has_exact_synonym: monosomy 2q32q33
has_obo_namespace: disease_ontology
id: DOID:0060428
in_subset: DO_rare_slim

Axiom
annotated source: SATB2-associated syndrome
annotated property: definition
annotated target: A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK458647/

chromosomal duplication syndrome
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: has material basis in
    some values from: SO_0000340
  intersection of: Restriction
    on property: has material basis in
    some values from: SO_1000035
subclass of: DOID_0080014
definition: A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
created_by: elvira
creation_date: 2015-10-02T15:19:23Z
has_obo_namespace: disease_ontology
id: DOID:0060429

Axiom
annotated source: chromosomal duplication syndrome
annotated property: definition
annotated target: A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
database_cross_reference: url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/

chromosome 16p11.2 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
created_by: elvira
creation_date: 2015-10-02T15:19:40Z
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:614671
database_cross_reference: ORDO:370079
has_exact_synonym: proximal 16p11.2 microduplication syndrome
has_exact_synonym: proximal dup(16)(p11.2)
has_exact_synonym: proximal trisomy 16p11.2
has_obo_namespace: disease_ontology
id: DOID:0060430
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 16p11.2 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/16p112-duplication

chromosome 16p13.3 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.
created_by: elvira
creation_date: 2015-10-02T15:43:05Z
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:613458
database_cross_reference: ORDO:96078
has_exact_synonym: 16p13.3 microduplication syndrome
has_exact_synonym: distal duplication 16p
has_exact_synonym: distal trisomy 16p
has_exact_synonym: telomeric duplication 16p
has_obo_namespace: disease_ontology
id: DOID:0060431
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 16p13.3 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19833603/

chromosome 17p13.3 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region.
created_by: elvira
creation_date: 2015-10-02T15:45:43Z
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: MESH:C567705
database_cross_reference: OMIM:613215
database_cross_reference: ORDO:217385
has_exact_synonym: 17p13.3 duplication syndrome
has_exact_synonym: 17p13.3 microduplication syndrome
has_exact_synonym: chromosome 17p13.3 centromeric duplication syndrome
has_exact_synonym: trisomy 17p13.3
has_obo_namespace: disease_ontology
id: DOID:0060432
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 17p13.3 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19136950/

chromosome 17q12 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
created_by: elvira
creation_date: 2015-10-02T15:49:05Z
database_cross_reference: GARD:13296
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:614526
database_cross_reference: ORDO:261272
has_exact_synonym: 17q12 microduplication syndrome
has_exact_synonym: trisomy 17q12
has_obo_namespace: disease_ontology
id: DOID:0060433
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 17q12 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/17q12-duplication
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK344340/

chromosome 17q21.31 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region.
created_by: elvira
creation_date: 2015-10-02T15:50:26Z
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: OMIM:613533
database_cross_reference: ORDO:217340
has_exact_synonym: 17q21.31 microduplication syndrome
has_exact_synonym: trisomy 17q21.31
has_obo_namespace: disease_ontology
id: DOID:0060434
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 17q21.31 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19502243/

chromosome 1q21.1 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.
created_by: elvira
creation_date: 2015-10-02T16:58:42Z
database_cross_reference: GARD:10591
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: MESH:C567290
database_cross_reference: OMIM:612475
database_cross_reference: ORDO:250994
has_exact_synonym: 1q21.1 microduplication syndrome
has_exact_synonym: trisomy 1q21.1
has_obo_namespace: disease_ontology
id: DOID:0060435
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 1q21.1 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/1q211-microduplication

chromosome 22q11.2 microduplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.
created_by: elvira
creation_date: 2015-10-02T17:02:03Z
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: MESH:C567224
database_cross_reference: OMIM:608363
database_cross_reference: ORDO:1727
has_exact_synonym: 22q11.2 microduplication syndrome
has_exact_synonym: duplication 22q11.2
has_exact_synonym: trisomy 22q11.2
has_obo_namespace: disease_ontology
id: DOID:0060436
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 22q11.2 microduplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/22q112-duplication

chromosome 22q13 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region.
created_by: elvira
creation_date: 2015-10-02T17:11:03Z
database_cross_reference: OMIM:615538
has_obo_namespace: disease_ontology
id: DOID:0060437

Axiom
annotated source: chromosome 22q13 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/24153177/

Cole-Carpenter syndrome
type: Class
subclass of: DOID_12347
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000369
definition: An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
created_by: elvira
creation_date: 2015-10-06T16:24:18Z
database_cross_reference: MESH:C535963
database_cross_reference: NCI:C130985
database_cross_reference: OMIM:112240
database_cross_reference: OMIM:616294
database_cross_reference: ORDO:2050
has_obo_namespace: disease_ontology
id: DOID:0060438
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Cole-Carpenter syndrome
annotated property: definition
annotated target: An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10842295

lysinuric protein intolerance
type: Class
subclass of: DOID 9252
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
created_by: elvira
creation_date: 2015-10-13T15:04:00Z
database_cross_reference: GARD:3335
database_cross_reference: MESH:C562687
database_cross_reference: NCI:C121563
database_cross_reference: OMIM:222700
database_cross_reference: ORDO:470
database_cross_reference: SNOMEDCT_US_2022_09_01:13138006
database_cross_reference: UMLS_CUI:C0268647
has_exact_synonym: LPI
has_exact_synonym: dibasic amino aciduria II
has_exact_synonym: hyperdibasic aminoaciduria
has_obo_namespace: disease_ontology
id: DOID:0060439
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: lysinuric protein intolerance
annotated property: definition
annotated target: An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1361/
database_cross_reference: url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1155480

epithelial and subepithelial dystrophy
type: Class
subclass of: DOID 2566
definition: A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.
created_by: elvira
creation_date: 2015-10-16T16:37:13Z
has_obo_namespace: disease_ontology
id: DOID:0060440

Axiom
annotated source: epithelial and subepithelial dystrophy
annotated property: definition
annotated target: A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19236704

epithelial-stromal TGFBI dystrophy
type: Class
subclass of: DOID 2566
definition: A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.
created_by: elvira
creation_date: 2015-10-16T16:39:25Z
has_obo_namespace: disease_ontology
id: DOID:0060441

Axiom
annotated source: epithelial-stromal TGFBI dystrophy
annotated property: definition
annotated target: A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.
dc:type: ECO_0007645
database_cross_reference: url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm

stromal dystrophy
type: Class
subclass of: DOID 2566
definition: A corneal dystrophy that affects the corneal stroma.
created_by: elvira
creation_date: 2015-10-16T16:39:25Z
has_obo_namespace: disease_ontology
id: DOID:0060442

Axiom
annotated source: stromal dystrophy
annotated property: definition
annotated target: A corneal dystrophy that affects the corneal stroma.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19236704

corneal endothelial dystrophy
type: Class
subclass of: DOID 2566
definition: A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.
created_by: elvira
creation_date: 2015-10-16T16:39:25Z
has_exact_synonym: endothelial dystrophy
has_obo_namespace: disease_ontology
id: DOID:0060443

Axiom
annotated source: corneal endothelial dystrophy
annotated property: definition
annotated target: A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19236704

granular corneal dystrophy 2
type: Class
subclass of: DOID_12318
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
created_by: elvira
creation_date: 2015-10-16T16:44:27Z
database_cross_reference: MESH:C535474
database_cross_reference: OMIM:607541
database_cross_reference: ORDO:98963
database_cross_reference: SNOMEDCT_US_2022_09_01:397568004
database_cross_reference: UMLS_CUI:C1275685
has_exact_synonym: CGD2
has_exact_synonym: avellino corneal dystrophy
has_exact_synonym: combined granular-lattice corneal dystrophy
has_exact_synonym: corneal dystrophy, Avellino type
has_exact_synonym: granular corneal dystrophy type 2
has_obo_namespace: disease_ontology
id: DOID:0060444
in_subset: DO_rare_slim

Axiom
annotated source: granular corneal dystrophy 2
annotated property: definition
annotated target: An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
dc:type: ECO_0007636
database_cross_reference: url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm
database_cross_reference: url:https://www.omim.org/entry/607541

congenital stromal corneal dystrophy
type: Class
subclass of: stromal dystrophy
subclass of: DOID_0080015
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.
created_by: elvira
creation_date: 2015-10-16T17:09:23Z
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MESH:C566452
database_cross_reference: OMIM:610048
database_cross_reference: ORDO:101068
has_exact_synonym: CSCD
has_exact_synonym: congenital hereditary stromal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0060445
in_subset: DO_rare_slim

Axiom
annotated source: congenital stromal corneal dystrophy
annotated property: definition
annotated target: A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK2690/

X-linked endothelial corneal dystrophy
type: Class
subclass of: corneal endothelial dystrophy
subclass of: DOID_0080009
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
created_by: elvira
creation_date: 2015-10-16T17:13:34Z
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MESH:C567587
database_cross_reference: OMIM:300779
database_cross_reference: ORDO:293621
has_exact_synonym: XECD
has_obo_namespace: disease_ontology
id: DOID:0060446
in_subset: DO_rare_slim

Axiom
annotated source: X-linked endothelial corneal dystrophy
annotated property: definition
annotated target: A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/16490493/

epithelial basement membrane dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: epithelial and subepithelial dystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.
created_by: elvira
creation_date: 2015-10-16T17:17:01Z
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MESH:C535477
database_cross_reference: OMIM:121820
database_cross_reference: ORDO:98956
has_exact_synonym: Cogan corneal dystrophy
has_exact_synonym: EBMD
has_exact_synonym: microcystic corneal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0060447
in_subset: DO_rare_slim

Axiom
annotated source: epithelial basement membrane dystrophy
annotated property: definition
annotated target: An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/16652336/

Fleck corneal dystrophy
type: Class
subclass of: stromal dystrophy
definition: A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
created_by: elvira
creation_date: 2015-10-16T17:20:34Z
database_cross_reference: MESH:C563256
database_cross_reference: OMIM:121850
database_cross_reference: ORDO:98970
database_cross_reference: SNOMEDCT_US_2022_09_01:417183007
database_cross_reference: UMLS_CUI:C1562113
has_exact_synonym: FCD
has_exact_synonym: Francois-Neetens speckled corneal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0060448
in_subset: DO_rare_slim

Axiom
annotated source: Fleck corneal dystrophy
annotated property: definition
annotated target: A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/23288988/
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/26396486

gelatinous drop-like corneal dystrophy
type: Class
subclass of: autosomal recessive disease
subclass of: epithelial and subepithelial dystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
created_by: elvira
creation_date: 2015-10-16T17:26:37Z
database_cross_reference: MESH:C535480
database_cross_reference: NCI:C142805
database_cross_reference: OMIM:204870
database_cross_reference: ORDO:98957
database_cross_reference: SNOMEDCT_US_2022_09_01:419900000
database_cross_reference: UMLS_CUI:C0339273
has_exact_synonym: GDCD
has_exact_synonym: corneal amyloidosis
has_exact_synonym: primary familial amyloidosis of the cornea
has_exact_synonym: subepithelial amyloidosis of the cornea
has_obo_namespace: disease_ontology
id: DOID:0060449
in_subset: DO_rare_slim

Axiom
annotated source: gelatinous drop-like corneal dystrophy
annotated property: definition
annotated target: An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/10192395/

Lisch epithelial corneal dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
subclass of: DOID_0080009
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns.
created_by: elvira
creation_date: 2015-10-16T17:42:58Z
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MESH:C567588
database_cross_reference: OMIM:300778
database_cross_reference: ORDO:98955
has_exact_synonym: LECD
has_exact_synonym: band-shaped and whorled microcystic
has_obo_namespace: disease_ontology
id: DOID:0060450
in_subset: DO_rare_slim

Axiom
annotated source: Lisch epithelial corneal dystrophy
annotated property: definition
annotated target: An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/11024418/

Meesmann corneal dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
definition: An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
created_by: elvira
creation_date: 2015-10-16T17:45:27Z
database_cross_reference: GARD:9688
database_cross_reference: ICD10CM:H18.52
database_cross_reference: ICD9CM:371.51
database_cross_reference: MESH:D053559
database_cross_reference: NCI:C84795
database_cross_reference: OMIM:PS122100
database_cross_reference: ORDO:98954
database_cross_reference: SNOMEDCT_US_2022_09_01:193833008
database_cross_reference: UMLS_CUI:C0339277
has_exact_synonym: MECD
has_exact_synonym: Stocker-Holt dystrophy
has_exact_synonym: juvenile hereditary epithelial dystrophy
has_obo_namespace: disease_ontology
id: DOID:0060451
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Meesmann corneal dystrophy
annotated property: definition
annotated target: An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy

posterior amorphous corneal dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: stromal dystrophy
subclass of: Class
  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
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome.
created_by: elvira
creation_date: 2015-10-16T17:48:04Z
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MESH:C567546
database_cross_reference: OMIM:612868
database_cross_reference: ORDO:98971
has_exact_synonym: PACD
has_exact_synonym: chromosome 12q21.33 deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060452
in_subset: DO_rare_slim

Axiom
annotated source: posterior amorphous corneal dystrophy
annotated property: definition
annotated target: A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/27096414/

Reis-Bucklers corneal dystrophy
type: Class
subclass of: epithelial-stromal TGFBI dystrophy
definition: An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
created_by: elvira
creation_date: 2015-10-16T17:51:03Z
database_cross_reference: MESH:C535476
database_cross_reference: OMIM:608470
database_cross_reference: ORDO:98961
database_cross_reference: SNOMEDCT_US_2022_09_01:231930000
database_cross_reference: UMLS_CUI:C0339278
has_exact_synonym: RBCD
has_exact_synonym: anterior limiting membrane dystrophy type I
has_exact_synonym: corneal dystrophy of Bowman layer type I
has_exact_synonym: geographic corneal dystrophy
has_exact_synonym: granular corneal dystrophy type III
has_obo_namespace: disease_ontology
id: DOID:0060453
in_subset: DO_rare_slim

Axiom
annotated source: Reis-Bucklers corneal dystrophy
annotated property: definition
annotated target: An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/608470

subepithelial mucinous corneal dystrophy
type: Class
subclass of: epithelial and subepithelial dystrophy
definition: An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.
created_by: elvira
creation_date: 2015-10-16T17:55:14Z
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MESH:C567547
database_cross_reference: OMIM:612867
database_cross_reference: ORDO:98959
has_exact_synonym: SMCD
has_obo_namespace: disease_ontology
id: DOID:0060454
in_subset: DO_rare_slim

Axiom
annotated source: subepithelial mucinous corneal dystrophy
annotated property: definition
annotated target: An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/8352693/

Thiel-Behnke corneal dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: epithelial-stromal TGFBI dystrophy
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 honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
created_by: elvira
creation_date: 2015-10-16T17:57:16Z
database_cross_reference: MESH:C535942
database_cross_reference: OMIM:602082
database_cross_reference: ORDO:98960
database_cross_reference: SNOMEDCT_US_2022_09_01:417065002
database_cross_reference: UMLS_CUI:C1562894
has_exact_synonym: TBCD
has_exact_synonym: Waardenburg-Jonker corneal dystrophy
has_exact_synonym: anterior limiting membrane dystrophy type II
has_exact_synonym: corneal dystrophy honeycomb-shaped
has_exact_synonym: corneal dystrophy of Bowman layer type II
has_obo_namespace: disease_ontology
id: DOID:0060455
in_subset: DO_rare_slim

Axiom
annotated source: Thiel-Behnke corneal dystrophy
annotated property: definition
annotated target: An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
dc:type: ECO_0007636
database_cross_reference: url:https://www.omim.org/entry/602082

Schnyder corneal dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: stromal dystrophy
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.
created_by: elvira
creation_date: 2015-10-16T18:01:14Z
database_cross_reference: GARD:9277
database_cross_reference: MESH:C535475
database_cross_reference: OMIM:121800
database_cross_reference: ORDO:98967
database_cross_reference: SNOMEDCT_US_2022_09_01:420212002
database_cross_reference: UMLS_CUI:C0271287
has_exact_synonym: SCCD
has_exact_synonym: Schnyder crystalline corneal dystrophy
has_exact_synonym: corneal dystrophy crystalline of Schnyder
has_exact_synonym: crystalline stromal dystrophy
has_exact_synonym: hereditary crystalline stromal dystrophy of Schnyder
has_obo_namespace: disease_ontology
id: DOID:0060456
in_subset: DO_rare_slim

Axiom
annotated source: Schnyder corneal dystrophy
annotated property: definition
annotated target: A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/23169578/

posterior polymorphous corneal dystrophy
type: Class
subclass of: DOID 2566
definition: A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer.
created_by: elvira
creation_date: 2015-10-16T18:05:26Z
database_cross_reference: ICD10CM:H18.5
database_cross_reference: MESH:C562745
database_cross_reference: OMIM:PS122000
database_cross_reference: ORDO:98973
has_exact_synonym: PPCD
has_exact_synonym: Schlichting dystrophy
has_exact_synonym: hereditary polymorphus posterior corneal dystrophy
has_obo_namespace: disease_ontology
id: DOID:0060457
in_subset: DO_rare_slim

Axiom
annotated source: posterior polymorphous corneal dystrophy
annotated property: definition
annotated target: A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer.
database_cross_reference: url:https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy

chromosome 2q31.1 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region.
created_by: elvira
creation_date: 2015-10-19T14:42:34Z
database_cross_reference: OMIM:613681
has_obo_namespace: disease_ontology
id: DOID:0060458

Axiom
annotated source: chromosome 2q31.1 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/20577005/

chromosome 3q29 microduplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region.
created_by: elvira
creation_date: 2015-10-19T14:45:49Z
database_cross_reference: GARD:10360
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: MESH:C567626
database_cross_reference: OMIM:611936
database_cross_reference: ORDO:251038
has_exact_synonym: 3q29 microduplication
has_exact_synonym: trisomy 3q29
has_obo_namespace: disease_ontology
id: DOID:0060459
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 3q29 microduplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome

chromosome 5p13 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.
created_by: elvira
creation_date: 2015-10-19T15:25:26Z
database_cross_reference: ICD10CM:Q92.3
database_cross_reference: MESH:C567717
database_cross_reference: OMIM:613174
database_cross_reference: ORDO:329802
has_exact_synonym: 5p13 microduplication syndrome
has_exact_synonym: trisomy 5p13
has_obo_namespace: disease_ontology
id: DOID:0060460
in_subset: DO_rare_slim

Axiom
annotated source: chromosome 5p13 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19052029/

chromosome Xp11.23-p11.22 duplication syndrome
type: Class
subclass of: chromosomal duplication syndrome
subclass of: DOID_0080009
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.
created_by: elvira
creation_date: 2015-10-19T15:29:51Z
database_cross_reference: ICD10CM:Q99.8
database_cross_reference: MESH:C567585
database_cross_reference: OMIM:300801
database_cross_reference: ORDO:217377
has_exact_synonym: microduplication Xp11.22-p11.23 syndrome
has_exact_synonym: trisomy Xp11.22-p11.23
has_obo_namespace: disease_ontology
id: DOID:0060461
in_subset: DO_rare_slim

Axiom
annotated source: chromosome Xp11.23-p11.22 duplication syndrome
annotated property: definition
annotated target: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/19716111/

Desbuquois dysplasia
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
created_by: elvira
creation_date: 2015-11-02T16:22:42Z
database_cross_reference: GARD:1818
database_cross_reference: MESH:C535943
database_cross_reference: NCI:C124056
database_cross_reference: OMIM:251450
database_cross_reference: OMIM:615777
database_cross_reference: ORDO:1425
database_cross_reference: SNOMEDCT_US_2022_09_01:254099008
database_cross_reference: UMLS_CUI:C0432242
has_exact_synonym: Desbuquois syndrome
has_exact_synonym: micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
has_obo_namespace: disease_ontology
id: DOID:0060462
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Desbuquois dysplasia
annotated property: definition
annotated target: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19853239
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21037275

NUT midline carcinoma
type: Class
subclass of: DOID 305
definition: A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
created_by: elvira
creation_date: 2015-11-04T14:54:36Z
database_cross_reference: NCI:C45716
database_cross_reference: SNOMEDCT_US_2022_09_01:733922002
database_cross_reference: UMLS_CUI:C1707291
has_exact_synonym: nuclear protein in testis midline carcinoma
has_obo_namespace: disease_ontology
id: DOID:0060463
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
annotated source: NUT midline carcinoma
annotated property: definition
annotated target: A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum.
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma
database_cross_reference: url:https://omim.org/entry/608749
database_cross_reference: url:https://omim.org/entry/608963
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21221870
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25685583
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26378054
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26402248

Feingold syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
created_by: elvira
creation_date: 2015-11-04T16:11:58Z
database_cross_reference: GARD:8407
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MESH:C537734
database_cross_reference: OMIM:164280
database_cross_reference: OMIM:614326
database_cross_reference: ORDO:1305
has_exact_synonym: FGLDS
has_exact_synonym: MODED syndrome
has_exact_synonym: ODED syndrome
has_exact_synonym: digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
has_exact_synonym: microcephaly-digital anomalies-normal intelligence syndrome
has_exact_synonym: microcephaly-oculo-digito-esophageal-duodenal syndrome
has_exact_synonym: oculo-digito-esophageal-duodenal syndrome
has_obo_namespace: disease_ontology
id: DOID:0060464
in_subset: DO_rare_slim

Axiom
annotated source: Feingold syndrome
annotated property: definition
annotated target: A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/feingold-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Feingold_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14518066
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16906565

fibrochondrogenesis
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.
created_by: elvira
creation_date: 2015-11-04T16:24:41Z
database_cross_reference: GARD:2321
database_cross_reference: MESH:C562524
database_cross_reference: OMIM:PS228520
database_cross_reference: ORDO:2021
database_cross_reference: SNOMEDCT_US_2022_09_01:17144009
database_cross_reference: UMLS_CUI:C0265282
has_obo_namespace: disease_ontology
id: DOID:0060465
in_subset: DO_rare_slim

Axiom
annotated source: fibrochondrogenesis
annotated property: definition
annotated target: An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/fibrochondrogenesis

gingival fibromatosis
type: Class
subclass of: DOID 3086
definition: A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
created_by: elvira
creation_date: 2015-11-04T16:47:21Z
database_cross_reference: MESH:C562884
database_cross_reference: OMIM:135300
database_cross_reference: OMIM:605544
database_cross_reference: OMIM:609955
database_cross_reference: OMIM:611010
database_cross_reference: ORDO:2024
database_cross_reference: SNOMEDCT_US_2022_09_01:109620006
database_cross_reference: UMLS_CUI:C0399440
has_exact_synonym: hereditary gingival fibromatosis
has_exact_synonym: hereditary gingival hyperplasia
has_obo_namespace: disease_ontology
id: DOID:0060466
in_subset: DO_rare_slim

Axiom
annotated source: gingival fibromatosis
annotated property: definition
annotated target: A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11868160
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17385395

humeroradial synostosis
type: Class
subclass of: DOID_11971
definition: A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
creation_date: 2015-11-11T21:29:39Z
database_cross_reference: GARD:2748
database_cross_reference: MESH:C535284
database_cross_reference: OMIM:143050
database_cross_reference: OMIM:236400
database_cross_reference: ORDO:3265
database_cross_reference: SNOMEDCT_US_2021_07_31:205329008
has_obo_namespace: disease_ontology
has_related_synonym: humero-radial fusion
id: DOID:0060467
in_subset: DO_rare_slim

Axiom
annotated source: humeroradial synostosis
annotated property: definition
annotated target: A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis

Holt-Oram syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
created_by: elvira
creation_date: 2015-11-17T16:06:23Z
database_cross_reference: GARD:6666
database_cross_reference: ICD10CM:Q87.2
database_cross_reference: MESH:C535326
database_cross_reference: NCI:C125592
database_cross_reference: OMIM:142900
database_cross_reference: ORDO:392
database_cross_reference: SNOMEDCT_US_2022_09_01:205814003
database_cross_reference: UMLS_CUI:C0265264
has_exact_synonym: atrio-digital syndrome
has_exact_synonym: atriodigital dysplasia
has_exact_synonym: heart-hand syndrome
has_obo_namespace: disease_ontology
id: DOID:0060468
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Holt-Oram syndrome
annotated property: definition
annotated target: A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12223419
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12436037

Miller-Dieker lissencephaly syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
created_by: elvira
creation_date: 2015-11-17T16:22:00Z
database_cross_reference: ICD10CM:Q93.88
database_cross_reference: MESH:D054221
database_cross_reference: NCI:C124852
database_cross_reference: OMIM:247200
database_cross_reference: ORDO:531
database_cross_reference: SNOMEDCT_US_2022_09_01:253148005
database_cross_reference: UMLS_CUI:C0265219
has_exact_synonym: MDS
has_exact_synonym: Miller-Dieker syndrome
has_obo_namespace: disease_ontology
id: DOID:0060469
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Miller-Dieker lissencephaly syndrome
annotated property: definition
annotated target: A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21239872
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9473821

salt and pepper syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2.
created_by: elvira
creation_date: 2015-11-17T16:40:23Z
database_cross_reference: OMIM:609056
database_cross_reference: ORDO:370938
has_exact_synonym: salt & pepper syndrome
has_exact_synonym: salt-and-pepper syndrome
has_obo_namespace: disease_ontology
id: DOID:0060470
in_subset: DO_rare_slim

Axiom
annotated source: salt and pepper syndrome
annotated property: definition
annotated target: A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24026681

fetal valproate syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
created_by: elvira
creation_date: 2015-11-17T16:47:50Z
database_cross_reference: MESH:C536525
database_cross_reference: NCI:C98930
database_cross_reference: OMIM:609442
database_cross_reference: ORDO:1906
database_cross_reference: SNOMEDCT_US_2022_09_01:205792006
database_cross_reference: UMLS_CUI:C0236026
has_exact_synonym: fetal valproic acid syndrome
has_exact_synonym: foetal valproate syndrome
has_exact_synonym: foetal valproic acid syndrome
has_obo_namespace: disease_ontology
id: DOID:0060471
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: fetal valproate syndrome
annotated property: definition
annotated target: A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17090909
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25400349

Kindler syndrome
type: Class
subclass of: DOID 37
definition: A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
created_by: elvira
creation_date: 2015-11-17T16:54:49Z
database_cross_reference: GARD:4391
database_cross_reference: MESH:C536321
database_cross_reference: OMIM:173650
database_cross_reference: ORDO:306539
has_exact_synonym: hereditary acrokeratotic poikiloderma of Kindler-Weary
has_exact_synonym: poikiloderma of Kindler
has_obo_namespace: disease_ontology
id: DOID:0060472
in_subset: DO_rare_slim

Axiom
annotated source: Kindler syndrome
annotated property: definition
annotated target: A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Kindler_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12668616

Kabuki syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
created_by: elvira
creation_date: 2015-11-18T16:21:35Z
database_cross_reference: GARD:6810
database_cross_reference: MESH:C537705
database_cross_reference: NCI:C124837
database_cross_reference: OMIM:147920
database_cross_reference: OMIM:300867
database_cross_reference: ORDO:2322
database_cross_reference: SNOMEDCT_US_2022_09_01:205805008
database_cross_reference: UMLS_CUI:C0796004
has_exact_synonym: KMS
has_exact_synonym: Kabuki make up syndrome
has_exact_synonym: Niikawa-Kuroki syndrome
has_obo_namespace: disease_ontology
id: DOID:0060473
in_subset: DO_cancer_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Kabuki syndrome
annotated property: definition
annotated target: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Kabuki_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25281733
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25972376
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26512256

familial erythrocytosis 2
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_10780
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
created_by: elvira
creation_date: 2015-11-18T16:42:50Z
database_cross_reference: ICD10CM:D75.1
database_cross_reference: OMIM:263400
database_cross_reference: ORDO:238557
has_exact_synonym: Chuvash erythromatosis
has_exact_synonym: Chuvash polycythemia
has_exact_synonym: Chuvash type polycythemia
has_exact_synonym: ECYT2
has_exact_synonym: autosomal recessive benign erythrocytosis
has_obo_namespace: disease_ontology
id: DOID:0060474
in_subset: DO_rare_slim

Axiom
annotated source: familial erythrocytosis 2
annotated property: definition
annotated target: A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15725900

childhood onset epileptic encephalopathy
type: Class
subclass of: DOID 1827
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011463
definition: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
created_by: elvira
creation_date: 2015-11-19T16:30:12Z
database_cross_reference: OMIM:615369
has_exact_synonym: EEOC
has_obo_namespace: disease_ontology
id: DOID:0060475

Axiom
annotated source: childhood onset epileptic encephalopathy
annotated property: definition
annotated target: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/615369
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23708187
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24207121

Perlman syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
created_by: elvira
creation_date: 2015-11-20T16:04:30Z
database_cross_reference: GARD:3936
database_cross_reference: ICD10CM:Q87.3
database_cross_reference: MESH:C536399
database_cross_reference: OMIM:267000
database_cross_reference: ORDO:2849
has_exact_synonym: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
has_exact_synonym: nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
has_exact_synonym: renal hamartomas, nephroblastomatosis and fetal gigantism
has_obo_namespace: disease_ontology
id: DOID:0060476
in_subset: DO_rare_slim

Axiom
annotated source: Perlman syndrome
annotated property: definition
annotated target: A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Perlman_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18780370
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22306653

Zika fever
type: Class
subclass of: DOID 934
subclass of: Restriction
  on property: RO_0002451
  some values from: NCBITaxon 7158
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_0000504
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000613
definition: A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
database_cross_reference: ICD10CM:A92.8
database_cross_reference: MESH:D000071243
has_exact_synonym: Zika virus disease
has_obo_namespace: disease_ontology
id: DOID:0060478
in_subset: DO_infectious_disease_slim

Axiom
annotated source: Zika fever
annotated property: definition
annotated target: A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx
database_cross_reference: url:http://www.who.int/mediacentre/factsheets/zika/en/
database_cross_reference: url:https://en.wikipedia.org/wiki/Zika_fever
database_cross_reference: url:https://www.cdc.gov/zika/about/

Shwachman-Diamond syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
has_alternative_id: DOID:0080023
database_cross_reference: GARD:4863
database_cross_reference: ICD10CM:D61.0
database_cross_reference: MESH:C537330
database_cross_reference: OMIM:260400
has_exact_synonym: Shwachman syndrome
has_exact_synonym: Shwachman-Bodian-Diamond syndrome
has_exact_synonym: Shwachman-Diamond type metaphyseal dysplasia
has_exact_synonym: pancreatic insufficiency and bone marrow dysfunction
has_obo_namespace: disease_ontology
id: DOID:0060479

Axiom
annotated source: Shwachman-Diamond syndrome
annotated property: definition
annotated target: A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18356737
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22201042

left ventricular noncompaction
type: Class
subclass of: intrinsic cardiomyopathy
definition: An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
database_cross_reference: GARD:10985
database_cross_reference: OMIM:604169
database_cross_reference: ORDO:54260
has_exact_synonym: left ventricular hypertrabeculation
has_obo_namespace: disease_ontology
id: DOID:0060480
in_subset: DO_rare_slim

Axiom
annotated source: left ventricular noncompaction
annotated property: definition
annotated target: An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16567565

Goldberg-Shprintzen syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
database_cross_reference: GARD:9849
database_cross_reference: MESH:C537279
database_cross_reference: OMIM:609460
database_cross_reference: ORDO:66629
database_cross_reference: SNOMEDCT_US_2022_09_01:717822006
database_cross_reference: UMLS_CUI:C1836123
has_exact_synonym: Goldberg-Shprintzen megacolon syndrome
has_obo_namespace: disease_ontology
id: DOID:0060481
in_subset: DO_rare_slim

Axiom
annotated source: Goldberg-Shprintzen syndrome
annotated property: definition
annotated target: A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15883926
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23427148

oculoauricular syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: MESH:C567416
database_cross_reference: OMIM:612109
database_cross_reference: ORDO:157962
has_obo_namespace: disease_ontology
id: DOID:0060482
in_subset: DO_rare_slim

Axiom
annotated source: oculoauricular syndrome
annotated property: definition
annotated target: A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18423520
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25574057

MEDNIK syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
database_cross_reference: OMIM:609313
database_cross_reference: ORDO:171851
has_exact_synonym: erythrokeratodermia variabilis 3
has_exact_synonym: erythrokeratodermia variabilis, Kamouraska type
has_exact_synonym: mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
has_obo_namespace: disease_ontology
id: DOID:0060483
in_subset: DO_rare_slim

Axiom
annotated source: MEDNIK syndrome
annotated property: definition
annotated target: A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23423674
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24754424

EAST syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
database_cross_reference: MESH:C557674
database_cross_reference: OMIM:612780
database_cross_reference: ORDO:199343
database_cross_reference: SNOMEDCT_US_2022_09_01:721207002
database_cross_reference: UMLS_CUI:C2748572
has_exact_synonym: SeSAME syndrome
has_exact_synonym: epilepsy, ataxia, sensorineural deafness and tubulopathy
has_exact_synonym: seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
has_obo_namespace: disease_ontology
id: DOID:0060484
in_subset: DO_rare_slim

Axiom
annotated source: EAST syndrome
annotated property: definition
annotated target: A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19289823
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19420365
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23471908

Mowat-Wilson syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
database_cross_reference: GARD:9673
database_cross_reference: MESH:C536990
database_cross_reference: NCI:C74999
database_cross_reference: OMIM:235730
database_cross_reference: ORDO:2152
database_cross_reference: SNOMEDCT_US_2022_09_01:703535000
database_cross_reference: UMLS_CUI:C1856113
has_exact_synonym: Hirschsprung disease mental retardation syndrome
has_exact_synonym: microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
has_obo_namespace: disease_ontology
id: DOID:0060485
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Mowat-Wilson syndrome
annotated property: definition
annotated target: A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17958891
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23466526

Perry syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
database_cross_reference: GARD:10453
database_cross_reference: MESH:C566822
database_cross_reference: OMIM:168605
database_cross_reference: ORDO:178509
has_exact_synonym: parkinsonism with alveolar hypoventilation and mental depression
has_obo_namespace: disease_ontology
id: DOID:0060486
in_subset: DO_rare_slim

Axiom
annotated source: Perry syndrome
annotated property: definition
annotated target: A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
dc:type: ECO_0007637
dc:type: ECO_0007646
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK47027/
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/perry-syndrome

Pitt-Hopkins syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
database_cross_reference: GARD:4372
database_cross_reference: MESH:C537403
database_cross_reference: NCI:C129872
database_cross_reference: OMIM:610954
database_cross_reference: ORDO:2896
database_cross_reference: SNOMEDCT_US_2022_09_01:702344008
database_cross_reference: UMLS_CUI:C1970431
has_obo_namespace: disease_ontology
id: DOID:0060488
in_subset: DO_FlyBase_slim
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Pitt-Hopkins syndrome
annotated property: definition
annotated target: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome
database_cross_reference: url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17436255
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26621827
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/728011

Schimke immuno-osseous dysplasia
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080027
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
database_cross_reference: GARD:4984
database_cross_reference: MESH:C536629
database_cross_reference: NCI:C135087
database_cross_reference: OMIM:242900
database_cross_reference: ORDO:1830
database_cross_reference: SNOMEDCT_US_2022_09_01:723995003
database_cross_reference: UMLS_CUI:C0877024
has_exact_synonym: Schimke immunoosseous dysplasia
has_exact_synonym: Schimke syndrome
has_exact_synonym: immunoosseous dysplasia Schimke type
has_exact_synonym: spondyloepiphyseal dysplasia - nephrotic syndrome
has_obo_namespace: disease_ontology
id: DOID:0060490
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Schimke immuno-osseous dysplasia
annotated property: definition
annotated target: A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
dc:type: ECO_0007637
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/books/NBK1376/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10653321

SPOAN syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 1289
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
database_cross_reference: ICD10CM:G11.4
database_cross_reference: MESH:C563702
database_cross_reference: OMIM:609541
database_cross_reference: ORDO:320406
has_exact_synonym: spastic paraplegia, optic atropy, and neuropathy
has_exact_synonym: spastic paraplegia, optic atropy, and neuropathy syndrome
has_obo_namespace: disease_ontology
id: DOID:0060491
in_subset: DO_rare_slim

Axiom
annotated source: SPOAN syndrome
annotated property: definition
annotated target: A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15852396
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26385635

chicken egg allergy
type: Class
subclass of: DOID 4377
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001275
definition: An egg allergy triggered by Gallus gallus eggs.
has_exact_synonym: Gallus gallus egg allergy
has_obo_namespace: disease_ontology
id: DOID:0060492
in_subset: DO_IEDB_slim

Axiom
annotated source: chicken egg allergy
annotated property: definition
annotated target: An egg allergy triggered by Gallus gallus eggs.
dc:type: ECO_0007638
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001
database_cross_reference: url:https://en.wikipedia.org/wiki/Egg_allergy

shellfish allergy
type: Class
subclass of: DOID 3044
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001293
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 6447
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 6657
definition: A food allergy triggered by Crustacea or Mollusca.
has_obo_namespace: disease_ontology
id: DOID:0060495
in_subset: DO_IEDB_slim

Axiom
annotated source: shellfish allergy
annotated property: definition
annotated target: A food allergy triggered by Crustacea or Mollusca.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28027402
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29858102
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30893087

respiratory allergy
type: Class
equivalent class: Class
  intersection of: DOID 1205
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000065
subclass of: DOID 1205
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

Axiom
annotated source: respiratory allergy
annotated property: definition
annotated target: An allergic disease that is located_in the respiratory tract.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25006500
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28187789

pollen allergy
type: Class
subclass of: respiratory allergy
definition: A respiratory allergy triggered by pollen.
has_obo_namespace: disease_ontology
id: DOID:0060497
in_subset: DO_IEDB_slim

Axiom
annotated source: pollen allergy
annotated property: definition
annotated target: A respiratory allergy triggered by pollen.
dc:type: ECO_0007637
database_cross_reference: url:https://acaai.org/allergies/types-allergies/pollen-allergy
database_cross_reference: url:https://www.aafa.org/pollen-allergy/

Timothy grass allergy
type: Class
subclass of: pollen allergy
definition: A pollen allergy triggered by Phleum pratense pollen.
has_obo_namespace: disease_ontology
id: DOID:0060498
in_subset: DO_IEDB_slim

Axiom
annotated source: Timothy grass allergy
annotated property: definition
annotated target: A pollen allergy triggered by Phleum pratense pollen.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25685162

autoimmune neuropathy
type: Class
subclass of: autoimmune disease of central nervous system
definition: An autoimmune disease of central nervous system caused by an autoimmune response.
has_obo_namespace: disease_ontology
id: DOID:0060499

Axiom
annotated source: autoimmune neuropathy
annotated property: definition
annotated target: An autoimmune disease of central nervous system caused by an autoimmune response.
dc:type: ECO_0007645
database_cross_reference: url:https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28601415

drug allergy
type: Class
equivalent class: Class
  intersection of: DOID 1205
  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
subclass of: DOID 1205
definition: An allergic disease that is triggered by a drug.
has_obo_namespace: disease_ontology
id: DOID:0060500
in_subset: DO_IEDB_slim

Axiom
annotated source: drug allergy
annotated property: definition
annotated target: An allergic disease that is triggered by a drug.
dc:type: ECO_0007637
database_cross_reference: url:https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835

metal allergy
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0001022
    some values from: Class
      union of: CHEBI_25213
      union of: CHEBI_33521
      union of: CHEBI_35479
subclass of: DOID 1205
definition: An allergic disease that is triggered by a metal.
has_obo_namespace: disease_ontology
id: DOID:0060501
in_subset: DO_IEDB_slim

Axiom
annotated source: metal allergy
annotated property: definition
annotated target: An allergic disease that is triggered by a metal.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/27228132

gastrointestinal allergy
type: Class
subclass of: DOID 1205
definition: An allergic disease that is located_in the gastrointestinal tract.
has_obo_namespace: disease_ontology
id: DOID:0060502
in_subset: DO_IEDB_slim

Axiom
annotated source: gastrointestinal allergy
annotated property: definition
annotated target: An allergic disease that is located_in the gastrointestinal tract.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18721321

fruit allergy
type: Class
subclass of: DOID 3044
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001057
definition: A food allergy triggered by a plant fruit product.
has_obo_namespace: disease_ontology
id: DOID:0060503
in_subset: DO_IEDB_slim

Axiom
annotated source: fruit allergy
annotated property: definition
annotated target: A food allergy triggered by a plant fruit product.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Fruit_allergy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26022876
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26549334

apple allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001611
definition: A fruit allergy triggered by Malus domestica plant fruit food product.
has_exact_synonym: Malus domestica fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060504
in_subset: DO_IEDB_slim

Axiom
annotated source: apple allergy
annotated property: definition
annotated target: A fruit allergy triggered by Malus domestica plant fruit food product.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26549334
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29130794

apricot allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001615
definition: A fruit allergy triggered by Prunus armeniaca plant fruit food product.
has_exact_synonym: Prunus armeniaca fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060505
in_subset: DO_IEDB_slim

Axiom
annotated source: apricot allergy
annotated property: definition
annotated target: A fruit allergy triggered by Prunus armeniaca plant fruit food product.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30611476

cherry allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001717
definition: A fruit allergy triggered by Prunus avium plant fruit food product.
has_exact_synonym: Prunus avium fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060506
in_subset: DO_IEDB_slim

Axiom
annotated source: cherry allergy
annotated property: definition
annotated target: A fruit allergy triggered by Prunus avium plant fruit food product.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26549334
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30093847

Indian plum allergy
type: Class
subclass of: fruit allergy
definition: A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.
has_exact_synonym: Ziziphus mauritiana fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060507
in_subset: DO_IEDB_slim

Axiom
annotated source: Indian plum allergy
annotated property: definition
annotated target: A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Fruit_allergy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14976388
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24696647

orange allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002071
definition: A fruit allergy triggered by Citrus sinensis plant fruit food product.
has_exact_synonym: Citrus sinensis fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060508
in_subset: DO_IEDB_slim

Axiom
annotated source: orange allergy
annotated property: definition
annotated target: A fruit allergy triggered by Citrus sinensis plant fruit food product.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26549334
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30099793

melon allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002029
definition: A fruit allergy triggered by Cucumis melo plant fruit food product.
has_exact_synonym: Cucumis melo fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060509
in_subset: DO_IEDB_slim

Axiom
annotated source: melon allergy
annotated property: definition
annotated target: A fruit allergy triggered by Cucumis melo plant fruit food product.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26549334

peach allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002095
definition: A fruit allergy triggered by Prunus persica plant fruit food product.
has_exact_synonym: Prunus persica fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060510
in_subset: DO_IEDB_slim

Axiom
annotated source: peach allergy
annotated property: definition
annotated target: A fruit allergy triggered by Prunus persica plant fruit food product.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30672059

plum allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002161
definition: A fruit allergy triggered by Prunus domestica plant fruit food product.
has_exact_synonym: Prunus domestica fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060511
in_subset: DO_IEDB_slim

Axiom
annotated source: plum allergy
annotated property: definition
annotated target: A fruit allergy triggered by Prunus domestica plant fruit food product.
dc:type: ECO_0007636
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27

tomato allergy
type: Class
subclass of: fruit allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001164
definition: A fruit allergy triggered by Solanum lycopersicum plant fruit food product.
has_exact_synonym: Solanum lycopersicum fruit allergy
has_obo_namespace: disease_ontology
id: DOID:0060512
in_subset: DO_IEDB_slim

Axiom
annotated source: tomato allergy
annotated property: definition
annotated target: A fruit allergy triggered by Solanum lycopersicum plant fruit food product.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12001794
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23653972

fish allergy
type: Class
subclass of: DOID 3044
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001248
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 7898
definition: A food allergy triggered by fish.
has_obo_namespace: disease_ontology
id: DOID:0060513
in_subset: DO_IEDB_slim

Axiom
annotated source: fish allergy
annotated property: definition
annotated target: A food allergy triggered by fish.
dc:type: ECO_0007645
database_cross_reference: url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24795722
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30323632

Atlantic cod allergy
type: Class
subclass of: fish allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 8049
definition: A fish allergy triggered by Gadus morhua.
has_exact_synonym: Gadus morhua fish allergy
has_obo_namespace: disease_ontology
id: DOID:0060514
in_subset: DO_IEDB_slim

Axiom
annotated source: Atlantic cod allergy
annotated property: definition
annotated target: A fish allergy triggered by Gadus morhua.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24795722
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30323632

Atlantic salmon allergy
type: Class
subclass of: fish allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001623
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 8030
definition: A fish allergy triggered by Salmo salar.
has_exact_synonym: Salmo salar fish allergy
has_obo_namespace: disease_ontology
id: DOID:0060515
in_subset: DO_IEDB_slim

Axiom
annotated source: Atlantic salmon allergy
annotated property: definition
annotated target: A fish allergy triggered by Salmo salar.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24795722
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30323632

carp allergy
type: Class
subclass of: fish allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00001684
definition: A fish allergy triggered by Cyprinus carpio.
has_exact_synonym: Cyprinus carpio fish allergy
has_obo_namespace: disease_ontology
id: DOID:0060516
in_subset: DO_IEDB_slim

Axiom
annotated source: carp allergy
annotated property: definition
annotated target: A fish allergy triggered by Cyprinus carpio.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24795722
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30323632

zebrafish allergy
type: Class
subclass of: fish allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 7955
definition: A fish allergy triggered by Danio rerio.
has_exact_synonym: Danio rerio allergy
has_obo_namespace: disease_ontology
id: DOID:0060517
in_subset: DO_IEDB_slim

Axiom
annotated source: zebrafish allergy
annotated property: definition
annotated target: A fish allergy triggered by Danio rerio.
dc:type: ECO_0007637
database_cross_reference: url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy

rainbow trout allergy
type: Class
subclass of: fish allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002185
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 8022
definition: A fish allergy triggered by Oncorhynchus mykiss.
has_exact_synonym: Oncorhynchus mykiss allergy
has_obo_namespace: disease_ontology
id: DOID:0060518
in_subset: DO_IEDB_slim

Axiom
annotated source: rainbow trout allergy
annotated property: definition
annotated target: A fish allergy triggered by Oncorhynchus mykiss.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24795722
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26111497
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30323632

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
annotated source: beta-lactam allergy
annotated property: definition
annotated target: A drug allergy triggered by a beta-lactam.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity
database_cross_reference: url:https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/31009700

penicillin allergy
type: Class
subclass of: beta-lactam allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: CHEBI_17334
definition: A beta-lactam allergy triggered by penicillin.
has_obo_namespace: disease_ontology
id: DOID:0060520
in_subset: DO_IEDB_slim

Axiom
annotated source: penicillin allergy
annotated property: definition
annotated target: A beta-lactam allergy triggered by penicillin.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities
database_cross_reference: url:https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222

cow milk allergy
type: Class
subclass of: DOID 4376
definition: A milk allergy triggered by Bos taurus milk.
has_exact_synonym: Bos taurus milk allergy
has_obo_namespace: disease_ontology
id: DOID:0060521
in_subset: DO_IEDB_slim

Axiom
annotated source: cow milk allergy
annotated property: definition
annotated target: A milk allergy triggered by Bos taurus milk.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/31083388

goat milk allergy
type: Class
subclass of: DOID 4376
definition: A milk allergy triggered by Capra hircus milk.
has_exact_synonym: Capra hircus milk allergy
has_obo_namespace: disease_ontology
id: DOID:0060522
in_subset: DO_IEDB_slim

Axiom
annotated source: goat milk allergy
annotated property: definition
annotated target: A milk allergy triggered by Capra hircus milk.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17002714
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24372684

mollusc allergy
type: Class
subclass of: shellfish allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002044
definition: A shellfish allergy triggered by Mollusca.
has_obo_namespace: disease_ontology
id: DOID:0060523
in_subset: DO_IEDB_slim

Axiom
annotated source: mollusc allergy
annotated property: definition
annotated target: A shellfish allergy triggered by Mollusca.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28027402
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29858102
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30893087

crustacean allergy
type: Class
subclass of: shellfish allergy
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
annotated source: crustacean allergy
annotated property: definition
annotated target: A shellfish allergy triggered by Crustacea.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28027402
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29858102
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30893087

brown shrimp allergy
type: Class
subclass of: shrimp allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 6690
definition: A crustacean allergy triggered by Farfantepenaeus aztecus.
has_exact_synonym: Farfantepenaeus aztecus allergy
has_obo_namespace: disease_ontology
id: DOID:0060525
in_subset: DO_IEDB_slim

Axiom
annotated source: brown shrimp allergy
annotated property: definition
annotated target: A crustacean allergy triggered by Farfantepenaeus aztecus.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28027402
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29858102

crab allergy
type: Class
subclass of: crustacean allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon_85552
definition: A crustacean allergy triggered by Scylla paramamosain.
has_exact_synonym: Scylla paramamosain allergy
has_exact_synonym: green mud crab allergy
has_obo_namespace: disease_ontology
id: DOID:0060526
in_subset: DO_IEDB_slim

Axiom
annotated source: crab allergy
annotated property: definition
annotated target: A crustacean allergy triggered by Scylla paramamosain.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25728640
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29858102

Indian prawn allergy
type: Class
subclass of: shrimp allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon_29960
definition: A crustacean allergy triggered by Fenneropenaeus indicus.
has_exact_synonym: Fenneropenaeus indicus allergy
has_obo_namespace: disease_ontology
id: DOID:0060527
in_subset: DO_IEDB_slim

Axiom
annotated source: Indian prawn allergy
annotated property: definition
annotated target: A crustacean allergy triggered by Fenneropenaeus indicus.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29858102

tiger prawn allergy
type: Class
subclass of: shrimp allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 6687
definition: A crustacean allergy triggered by Penaeus monodon.
has_exact_synonym: Penaeus monodon allergy
has_obo_namespace: disease_ontology
id: DOID:0060528
in_subset: DO_IEDB_slim

Axiom
annotated source: tiger prawn allergy
annotated property: definition
annotated target: A crustacean allergy triggered by Penaeus monodon.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22135598
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29178679

white shrimp allergy
type: Class
subclass of: shrimp allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 6689
definition: A crustacean allergy triggered by Litopenaeus vannamei.
has_exact_synonym: Litopenaeus vannamei allergy
has_obo_namespace: disease_ontology
id: DOID:0060529
in_subset: DO_IEDB_slim

Axiom
annotated source: white shrimp allergy
annotated property: definition
annotated target: A crustacean allergy triggered by Litopenaeus vannamei.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20471069
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/28027402
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29858102

snail allergy
type: Class
subclass of: mollusc allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: FOODON_00002244
definition: A mollusc allergy triggered by snails.
has_obo_namespace: disease_ontology
id: DOID:0060530
in_subset: DO_IEDB_slim

Axiom
annotated source: snail allergy
annotated property: definition
annotated target: A mollusc allergy triggered by snails.
dc:type: ECO_0007645
database_cross_reference: url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15591808

horned turban snail allergy
type: Class
subclass of: snail allergy
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon_63673
definition: A snail allergy triggered by the horned turban snail.
has_exact_synonym: Turbo cornutus allergy
has_obo_namespace: disease_ontology
id: DOID:0060531
in_subset: DO_IEDB_slim

Axiom
annotated source: horned turban snail allergy
annotated property: definition
annotated target: A snail allergy triggered by the horned turban snail.
database_cross_reference: url:https://farrp.unl.edu/informallmollshellfish

latex allergy
type: Class
subclass of: DOID 1205
subclass of: Restriction
  on property: RO_0001022
  some values from: NCBITaxon 3981
definition: An allergic disease that is triggered by latex.
has_obo_namespace: disease_ontology
id: DOID:0060532
in_subset: DO_IEDB_slim

Axiom
annotated source: latex allergy
annotated property: definition
annotated target: An allergic disease that is triggered by latex.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Latex_allergy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/27010091

hepatoid adenocarcinoma
type: Class
subclass of: DOID 299
definition: An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
database_cross_reference: ICDO:8576/3
database_cross_reference: NCI:C66950
has_obo_namespace: disease_ontology
id: DOID:0060534
in_subset: NCIthesaurus

Axiom
annotated source: hepatoid adenocarcinoma
annotated property: definition
annotated target: An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Adenocarcinoma

Warsaw breakage syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
database_cross_reference: GARD:13708
database_cross_reference: OMIM:613398
database_cross_reference: ORDO:280558
has_exact_synonym: WABS
has_obo_namespace: disease_ontology
id: DOID:0060535

Axiom
annotated source: Warsaw breakage syndrome
annotated property: definition
annotated target: A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20137776
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21490908
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23033317
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26089203
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/31169992

mitochondrial complex I deficiency
type: Class
subclass of: DOID 700
definition: A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
database_cross_reference: GARD:3908
database_cross_reference: MESH:C537475
database_cross_reference: OMIM:252010
database_cross_reference: ORDO:2609
database_cross_reference: SNOMEDCT_US_2022_09_01:237988006
database_cross_reference: UMLS_CUI:C1838979
has_exact_synonym: isolated NADH-CoQ reductase deficiency
has_exact_synonym: isolated NADH-coenzyme Q reductase deficiency
has_exact_synonym: isolated NADH-ubiquinone reductase deficiency
has_exact_synonym: isolated mitochondrial respiratory chain complex I deficiency
has_obo_namespace: disease_ontology
id: DOID:0060536

Axiom
annotated source: mitochondrial complex I deficiency
annotated property: definition
annotated target: A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
dc:type: ECO_0007636
database_cross_reference: url:http://www.omim.org/entry/252010

mitochondrial complex II deficiency
type: Class
subclass of: DOID 700
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.
database_cross_reference: GARD:5053
database_cross_reference: ICD10CM:G71.3
database_cross_reference: MESH:C565375
database_cross_reference: OMIM:252011
database_cross_reference: ORDO:3208
has_exact_synonym: isolated mitochondrial respiratory chain complex II deficiency
has_exact_synonym: isolated succinate-CoQ reductase deficiency
has_exact_synonym: isolated succinate-coenzyme Q reductase deficiency
has_exact_synonym: isolated succinate-ubiquinone reductase deficiency
has_obo_namespace: disease_ontology
id: DOID:0060537

Axiom
annotated source: mitochondrial complex II deficiency
annotated property: definition
annotated target: A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23322652

purpura fulminans
type: Class
subclass of: DOID 3326
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000132
definition: A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal.
database_cross_reference: ICD10CM:D65
database_cross_reference: MESH:D055665
database_cross_reference: ORDO:49566
has_exact_synonym: purpura gangrenosa
has_obo_namespace: disease_ontology
id: DOID:0060538

Axiom
annotated source: purpura fulminans
annotated property: definition
annotated target: A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal.
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Purpura_fulminans
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26955583
database_cross_reference: url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566

Hermansky-Pudlak syndrome 1
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
database_cross_reference: OMIM:203300
has_obo_namespace: disease_ontology
id: DOID:0060539

Axiom
annotated source: Hermansky-Pudlak syndrome 1
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/203300

Hermansky-Pudlak syndrome 2
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
database_cross_reference: MESH:C537709
database_cross_reference: OMIM:608233
has_obo_namespace: disease_ontology
id: DOID:0060540

Axiom
annotated source: Hermansky-Pudlak syndrome 2
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/608233

Hermansky-Pudlak syndrome 3
type: Class
subclass of: DOID 3753
definition: A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
database_cross_reference: OMIM:614072
has_obo_namespace: disease_ontology
id: DOID:0060541

Axiom
annotated source: Hermansky-Pudlak syndrome 3
annotated property: definition
annotated target: A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614072

Hermansky-Pudlak syndrome 4
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
database_cross_reference: OMIM:614073
has_obo_namespace: disease_ontology
id: DOID:0060542

Axiom
annotated source: Hermansky-Pudlak syndrome 4
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614073

Hermansky-Pudlak syndrome 5
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
database_cross_reference: OMIM:614074
has_obo_namespace: disease_ontology
id: DOID:0060543

Axiom
annotated source: Hermansky-Pudlak syndrome 5
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614074

Hermansky-Pudlak syndrome 6
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
database_cross_reference: OMIM:614075
has_obo_namespace: disease_ontology
id: DOID:0060544

Axiom
annotated source: Hermansky-Pudlak syndrome 6
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614075

Hermansky-Pudlak syndrome 7
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
database_cross_reference: OMIM:614076
has_obo_namespace: disease_ontology
id: DOID:0060545

Axiom
annotated source: Hermansky-Pudlak syndrome 7
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614076

Hermansky-Pudlak syndrome 8
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
database_cross_reference: OMIM:614077
has_obo_namespace: disease_ontology
id: DOID:0060546

Axiom
annotated source: Hermansky-Pudlak syndrome 8
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614077

Hermansky-Pudlak syndrome 9
type: Class
subclass of: DOID 3753
definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
database_cross_reference: OMIM:614171
has_obo_namespace: disease_ontology
id: DOID:0060547

Axiom
annotated source: Hermansky-Pudlak syndrome 9
annotated property: definition
annotated target: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
dc:type: ECO_0007636
database_cross_reference: url:http://omim.org/entry/614171

luminal breast carcinoma A
type: Class
subclass of: DOID 3459
definition: A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
has_broad_synonym: breast tumor luminal
has_broad_synonym: luminal breast cancer
database_cross_reference: NCI:C53554
database_cross_reference: UMLS_CUI:C3642345
has_exact_synonym: Luminal A Breast Carcinoma
has_obo_namespace: disease_ontology
id: DOID:0060548

Axiom
annotated source: luminal breast carcinoma A
annotated property: definition
annotated target: A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3.
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/

Barber-Say syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
database_cross_reference: GARD:819
database_cross_reference: MESH:C537908
database_cross_reference: OMIM:209885
database_cross_reference: ORDO:1231
database_cross_reference: SNOMEDCT_US_2022_09_01:408537003
database_cross_reference: UMLS_CUI:C1319466
has_obo_namespace: disease_ontology
id: DOID:0060549

Axiom
annotated source: Barber-Say syndrome
annotated property: definition
annotated target: A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
dc:type: ECO_0007645
database_cross_reference: url:https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/27196381

ablepharon macrostomia syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
database_cross_reference: GARD:3
database_cross_reference: MESH:C535557
database_cross_reference: OMIM:200110
database_cross_reference: ORDO:920
database_cross_reference: SNOMEDCT_US_2022_09_01:718575002
database_cross_reference: UMLS_CUI:C1860224
has_obo_namespace: disease_ontology
id: DOID:0060550

Axiom
annotated source: ablepharon macrostomia syndrome
annotated property: definition
annotated target: A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
dc:type: ECO_0007636
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/
database_cross_reference: url:https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/27196381

poikiloderma with neutropenia
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 37
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.
database_cross_reference: GARD:4085
database_cross_reference: ICD10CM:D82.8
database_cross_reference: MESH:C565820
database_cross_reference: OMIM:604173
database_cross_reference: ORDO:221046
has_exact_synonym: poikiloderma with neutropenia, Clericuzio type
has_obo_namespace: disease_ontology
id: DOID:0060551

Axiom
annotated source: poikiloderma with neutropenia
annotated property: definition
annotated target: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20734427

Kufor-Rakeb syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0060894
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
database_cross_reference: MESH:C537177
database_cross_reference: OMIM:606693
database_cross_reference: ORDO:306674
database_cross_reference: SNOMEDCT_US_2022_09_01:723992000
database_cross_reference: UMLS_CUI:C1847640
has_exact_synonym: autosomal recessive Parkinson disease 9
has_exact_synonym: autosomal recessive juvenile onset Parkinson disease 9
has_obo_namespace: disease_ontology
id: DOID:0060556

Axiom
annotated source: Kufor-Rakeb syndrome
annotated property: definition
annotated target: An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15986421
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23791710

ataxia with oculomotor apraxia type 3
type: Class
subclass of: autosomal recessive cerebellar ataxia
definition: An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.
database_cross_reference: OMIM:615217
has_exact_synonym: ataxia-oculomotor apraxia 3
has_obo_namespace: disease_ontology
id: DOID:0060557

Axiom
annotated source: ataxia with oculomotor apraxia type 3
annotated property: definition
annotated target: An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia

lethal congenital contracture syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080015
subclass of: DOID 225
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
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000982
definition: A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
database_cross_reference: GARD:12643
database_cross_reference: ICD10CM:Q68.8
database_cross_reference: OMIM:PS253310
database_cross_reference: ORDO:294965
has_obo_namespace: disease_ontology
id: DOID:0060558

Axiom
annotated source: lethal congenital contracture syndrome
annotated property: definition
annotated target: A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22610851

lethal congenital contracture syndrome 1
type: Class
subclass of: lethal congenital contracture syndrome
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.
database_cross_reference: GARD:3227
database_cross_reference: MESH:C537194
database_cross_reference: OMIM:253310
database_cross_reference: ORDO:1486
database_cross_reference: SNOMEDCT_US_2022_09_01:715418007
database_cross_reference: UMLS_CUI:C1854664
has_exact_synonym: LCCS1
has_exact_synonym: multiple contracture syndrome, Finnish type
has_obo_namespace: disease_ontology
id: DOID:0060559

Axiom
annotated source: lethal congenital contracture syndrome 1
annotated property: definition
annotated target: A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9683599

lethal congenital contracture syndrome 2
type: Class
subclass of: lethal congenital contracture syndrome
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.
database_cross_reference: GARD:9177
database_cross_reference: MESH:C564369
database_cross_reference: OMIM:607598
database_cross_reference: ORDO:137776
has_exact_synonym: LCCS2
has_exact_synonym: multiple contracture syndrome, Israeli-Bedouin type
has_obo_namespace: disease_ontology
id: DOID:0060560

Axiom
annotated source: lethal congenital contracture syndrome 2
annotated property: definition
annotated target: A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15378541
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17701904

obsolete DMD-related dilated cardiomyopathy
type: Class
definition: A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene.
has_obo_namespace: disease_ontology
id: DOID:0060561
owl:deprecated: true

Axiom
annotated source: obsolete DMD-related dilated cardiomyopathy
annotated property: definition
annotated target: A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene.
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy

anomalous left coronary artery from the pulmonary artery
type: Class
subclass of: DOID_11843
definition: A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.
database_cross_reference: MESH:D063748
has_exact_synonym: ALCAPA
has_exact_synonym: Bland-White-Garland syndrome
has_exact_synonym: White-Garland syndrome
has_obo_namespace: disease_ontology
id: DOID:0060562

Axiom
annotated source: anomalous left coronary artery from the pulmonary artery
annotated property: definition
annotated target: A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery

Char syndrome
type: Class
subclass of: DOID_13832
definition: A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
database_cross_reference: GARD:1237
database_cross_reference: MESH:C566815
database_cross_reference: OMIM:169100
has_obo_namespace: disease_ontology
id: DOID:0060563

Axiom
annotated source: Char syndrome
annotated property: definition
annotated target: A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
dc:type: ECO_0007636
database_cross_reference: url:https://omim.org/entry/169100

spinal disease
type: Class
equivalent class: Class
  intersection of: DOID 4
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0001130
subclass of: DOID_0080001
definition: A bone disease that is located_in the spine.
has_obo_namespace: disease_ontology
id: DOID:0060564

Axiom
annotated source: spinal disease
annotated property: definition
annotated target: A bone disease that is located_in the spine.
database_cross_reference: url:https://en.wikipedia.org/wiki/Spinal_disease

Ritscher-Schinzel syndrome
type: Class
subclass of: monogenic disease
subclass of: DOID 225
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
database_cross_reference: MESH:C535313
database_cross_reference: OMIM:PS220210
database_cross_reference: ORDO:7
database_cross_reference: SNOMEDCT_US_2022_09_01:718556007
database_cross_reference: UMLS_CUI:C0796137
has_exact_synonym: CCC dysplasia
has_exact_synonym: craniocerebellocardiac dysplasia
has_obo_namespace: disease_ontology
id: DOID:0060565

Axiom
annotated source: Ritscher-Schinzel syndrome
annotated property: definition
annotated target: A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/3C_syndrome

Holzgreve-Wagner-Rehder Syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
database_cross_reference: MESH:C535327
database_cross_reference: OMIM:236110
database_cross_reference: ORDO:2167
database_cross_reference: SNOMEDCT_US_2022_09_01:783159001
database_cross_reference: UMLS_CUI:C1856095
has_exact_synonym: Holzgreve Wagner Rehder Syndrome
has_exact_synonym: Holzgreve syndrome
has_obo_namespace: disease_ontology
id: DOID:0060566

Axiom
annotated source: Holzgreve-Wagner-Rehder Syndrome
annotated property: definition
annotated target: A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3232694

erythema elevatum diutinum
type: Class
subclass of: DOID 865
definition: A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks.
database_cross_reference: GARD:8653
database_cross_reference: ICD10CM:L95.1
database_cross_reference: MESH:C535509
database_cross_reference: ORDO:90000
database_cross_reference: SNOMEDCT_US_2022_09_01:201300002
database_cross_reference: UMLS_CUI:C0263398
has_obo_namespace: disease_ontology
id: DOID:0060567

Axiom
annotated source: erythema elevatum diutinum
annotated property: definition
annotated target: A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks.
dc:type: ECO_0007637
database_cross_reference: url:http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html

hypertrichotic osteochondrodysplasia Cantu type
type: Class
subclass of: DOID 2256
definition: An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.
database_cross_reference: GARD:8585
database_cross_reference: MESH:C535572
database_cross_reference: OMIM:239850
has_exact_synonym: Cantu syndrome
has_obo_namespace: disease_ontology
id: DOID:0060569

Axiom
annotated source: hypertrichotic osteochondrodysplasia Cantu type
annotated property: definition
annotated target: An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/cantu-syndrome

cardiac tuberculosis
type: Class
equivalent class: Class
  intersection of: DOID 399
  intersection of: Restriction
    on property: RO_0004026
    some values from: UBERON_0000948
subclass of: DOID 114
subclass of: DOID 399
definition: A tuberculosis located in the heart.
database_cross_reference: MESH:D014381
has_narrow_synonym: cardiovascular tuberculosis
has_obo_namespace: disease_ontology
id: DOID:0060570
in_subset: DO_infectious_disease_slim

Axiom
annotated source: cardiac tuberculosis
annotated property: definition
annotated target: A tuberculosis located in the heart.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/28814447/

Ritscher-Schinzel syndrome 1
type: Class
subclass of: autosomal recessive disease
subclass of: Ritscher-Schinzel syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
database_cross_reference: OMIM:220210
database_cross_reference: ORDO:7
has_obo_namespace: disease_ontology
id: DOID:0060571

Axiom
annotated source: Ritscher-Schinzel syndrome 1
annotated property: definition
annotated target: A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24065355

Ritscher-Schinzel syndrome 2
type: Class
subclass of: Ritscher-Schinzel syndrome
subclass of: DOID_0080012
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.
database_cross_reference: OMIM:300963
database_cross_reference: ORDO:7
has_obo_namespace: disease_ontology
id: DOID:0060572

Axiom
annotated source: Ritscher-Schinzel syndrome 2
annotated property: definition
annotated target: A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24916641

von Willebrand's disease 1
type: Class
subclass of: DOID_12531
definition: A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
database_cross_reference: ICD10CM:D68.01
database_cross_reference: MESH:D056725
database_cross_reference: NCI:C131685
database_cross_reference: OMIM:193400
database_cross_reference: SNOMEDCT_US_2022_09_01:128106003
database_cross_reference: UMLS_CUI:C1264039
has_exact_synonym: VWD type 1
has_exact_synonym: VWD1
has_exact_synonym: von Willebrand disease type 1
has_exact_synonym: von Willebrand disease type I
has_obo_namespace: disease_ontology
id: DOID:0060573
in_subset: NCIthesaurus

Axiom
annotated source: von Willebrand's disease 1
annotated property: definition
annotated target: A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16889557
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8456432

von Willebrand's disease 2
type: Class
subclass of: DOID_12531
definition: A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
database_cross_reference: ICD10CM:D68.02
database_cross_reference: MESH:D056728
database_cross_reference: OMIM:613554
database_cross_reference: ORDO:166081
database_cross_reference: SNOMEDCT_US_2022_09_01:128107007
database_cross_reference: UMLS_CUI:C1264040
has_exact_synonym: VWD type 2
has_exact_synonym: VWD2
has_exact_synonym: von Willebrand disease type 2
has_exact_synonym: von Willebrand disease type II
has_obo_namespace: disease_ontology
id: DOID:0060574

Axiom
annotated source: von Willebrand's disease 2
annotated property: definition
annotated target: A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20409624

3MC syndrome 1
type: Class
subclass of: 3MC syndrome
definition: A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
database_cross_reference: OMIM:257920
has_obo_namespace: disease_ontology
id: DOID:0060575

Axiom
annotated source: 3MC syndrome 1
annotated property: definition
annotated target: A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/3mc-syndrome
database_cross_reference: url:https://www.omim.org/entry/257920

3MC syndrome 2
type: Class
subclass of: 3MC syndrome
disjoint with: 3MC syndrome 3
definition: A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
database_cross_reference: OMIM:265050
has_obo_namespace: disease_ontology
id: DOID:0060576

Axiom
annotated source: 3MC syndrome 2
annotated property: definition
annotated target: A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
dc:type: ECO_0007636
dc:type: ECO_0007637
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/3mc-syndrome
database_cross_reference: url:https://www.omim.org/entry/265050

3MC syndrome 3
type: Class
subclass of: 3MC syndrome
definition: A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
database_cross_reference: OMIM:248340
has_obo_namespace: disease_ontology
id: DOID:0060577

Axiom
annotated source: 3MC syndrome 3
annotated property: definition
annotated target: A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21258343

Noonan syndrome 1
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
has_alternative_id: DOID:0070101
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: OMIM:163950
has_exact_synonym: NS1
has_obo_namespace: disease_ontology
id: DOID:0060578

Axiom
annotated source: Noonan syndrome 1
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18203203

Noonan syndrome 2
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance.
has_alternative_id: DOID:0070102
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MESH:C548081
database_cross_reference: OMIM:605275
has_exact_synonym: NS2
has_obo_namespace: disease_ontology
id: DOID:0060580

Axiom
annotated source: Noonan syndrome 2
annotated property: definition
annotated target: A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/5782826

Noonan syndrome 3
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.
has_alternative_id: DOID:0070103
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MESH:C537847
database_cross_reference: OMIM:609942
has_exact_synonym: NS3
has_obo_namespace: disease_ontology
id: DOID:0060581

Axiom
annotated source: Noonan syndrome 3
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16474405

Noonan syndrome 4
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.
has_alternative_id: DOID:0070104
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MESH:C548082
database_cross_reference: OMIM:610733
has_exact_synonym: NS4
has_obo_namespace: disease_ontology
id: DOID:0060582

Axiom
annotated source: Noonan syndrome 4
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19438935

Noonan syndrome 5
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.
has_alternative_id: DOID:0070105
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MESH:C548083
database_cross_reference: OMIM:611553
has_exact_synonym: NS5
has_obo_namespace: disease_ontology
id: DOID:0060583

Axiom
annotated source: Noonan syndrome 5
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17603483

Noonan syndrome 6
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
has_alternative_id: DOID:0070106
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MESH:C548084
database_cross_reference: OMIM:613224
has_exact_synonym: NS6
has_obo_namespace: disease_ontology
id: DOID:0060584

Axiom
annotated source: Noonan syndrome 6
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19966803

Noonan syndrome 7
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.
has_alternative_id: DOID:0070107
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: OMIM:613706
has_exact_synonym: NS7
has_obo_namespace: disease_ontology
id: DOID:0060585

Axiom
annotated source: Noonan syndrome 7
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19206169

Noonan syndrome 8
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22.
has_alternative_id: DOID:0070108
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: OMIM:615355
has_exact_synonym: NS8
has_obo_namespace: disease_ontology
id: DOID:0060586

Axiom
annotated source: Noonan syndrome 8
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24939608
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25124994

Noonan syndrome 9
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.
has_alternative_id: DOID:0070109
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: OMIM:616559
has_exact_synonym: NS9
has_obo_namespace: disease_ontology
id: DOID:0060587

Axiom
annotated source: Noonan syndrome 9
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25795793

Noonan syndrome 10
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3490
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.
has_alternative_id: DOID:0070110
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: OMIM:616564
has_exact_synonym: NS10
has_obo_namespace: disease_ontology
id: DOID:0060588

Axiom
annotated source: Noonan syndrome 10
annotated property: definition
annotated target: A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25795793

Yunis-Varon syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
database_cross_reference: GARD:331
database_cross_reference: MESH:C536719
database_cross_reference: OMIM:216340
database_cross_reference: UMLS_CUI:C1857663
has_exact_synonym: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
has_exact_synonym: cleidocranial dysplasia-micrognathia-absent thumbs syndrome
has_obo_namespace: disease_ontology
id: DOID:0060589

Axiom
annotated source: Yunis-Varon syndrome
annotated property: definition
annotated target: A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23623387

XFE progeroid syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.
database_cross_reference: GARD:10628
database_cross_reference: MESH:C567043
database_cross_reference: OMIM:610965
has_exact_synonym: XFEPS
has_exact_synonym: XPF-ERCC1 progeroid syndrome
has_obo_namespace: disease_ontology
id: DOID:0060590

Axiom
annotated source: XFE progeroid syndrome
annotated property: definition
annotated target: A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17183314

WHIM syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 612
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
database_cross_reference: GARD:9297
database_cross_reference: MESH:C536697
database_cross_reference: NCI:C176819
database_cross_reference: OMIM:193670
database_cross_reference: SNOMEDCT_US_2022_09_01:234571003
database_cross_reference: UMLS_CUI:C0472817
has_exact_synonym: WHIMS
has_exact_synonym: warts, hypogammaglobulinemia, infections, and myelokathexis
has_exact_synonym: warts-hypogammaglobulinemia-infections-myelokathexis syndrome
has_obo_namespace: disease_ontology
id: DOID:0060591

Axiom
annotated source: WHIM syndrome
annotated property: definition
annotated target: An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/WHIM_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10767001

B-cell adult acute lymphocytic leukemia
type: Class
subclass of: lymphoma
subclass of: DOID 5604
subclass of: Restriction
  on property: has material basis in
  some values from: CL_0000945
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0003581
definition: An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
database_cross_reference: NCI:C9143
has_exact_synonym: B-cell adult acute lymphocytic leukaemia
has_exact_synonym: adult B acute lymphoblastic leukaemia
has_exact_synonym: adult B acute lymphoblastic leukemia
has_exact_synonym: adult B-lymphoblastic leukaemia
has_exact_synonym: adult B-lymphoblastic leukemia
has_exact_synonym: adult b-cell acute lymphoblastic leukaemia
has_exact_synonym: adult b-cell acute lymphoblastic leukemia
has_exact_synonym: adult b-cell lymphocytic leukaemia
has_exact_synonym: adult b-cell lymphocytic leukemia
has_obo_namespace: disease_ontology
id: DOID:0060592
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
annotated source: B-cell adult acute lymphocytic leukemia
annotated property: definition
annotated target: An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes.
database_cross_reference: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143

atypical chronic myeloid leukemia, BCR-ABL1 negative
type: Class
subclass of: DOID 4972
definition: A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
has_alternative_id: DOID:8747
database_cross_reference: ICD10CM:C92.2
database_cross_reference: ICD9CM:205.2
database_cross_reference: ICDO:9876/3
database_cross_reference: MESH:D054438
database_cross_reference: NCI:C3519
database_cross_reference: ORDO:98824
database_cross_reference: SNOMEDCT_US_2022_09_01:128826001
database_cross_reference: SNOMEDCT_US_2022_12_31:74326002
database_cross_reference: UMLS_CUI:C1292772
has_exact_synonym: aCML
has_exact_synonym: atypical CML
has_exact_synonym: atypical chronic myeloid leukaemia
has_exact_synonym: atypical chronic myeloid leukaemia BCR-ABL1 negative
has_exact_synonym: atypical chronic myeloid leukemia BCR-ABL1 negative
has_exact_synonym: subacute myeloid leukemia
has_obo_namespace: disease_ontology
id: DOID:0060597
in_subset: DO_cancer_slim
in_subset: NCIthesaurus

Axiom
annotated source: atypical chronic myeloid leukemia, BCR-ABL1 negative
annotated property: definition
annotated target: A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/29226717

Nance-Horan syndrome
type: Class
subclass of: DOID_0080009
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000146
definition: A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
database_cross_reference: GARD:7161
database_cross_reference: MESH:C538336
database_cross_reference: OMIM:302350
database_cross_reference: ORDO:627
database_cross_reference: SNOMEDCT_US_2022_09_01:445257004
database_cross_reference: UMLS_CUI:C0796085
has_obo_namespace: disease_ontology
id: DOID:0060599

Axiom
annotated source: Nance-Horan syndrome
annotated property: definition
annotated target: A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Nance-Horan_syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2246772
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6467651

obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
type: Class
has_obo_namespace: disease_ontology
id: DOID:0060600
owl:deprecated: true

alpha-2-plasmin inhibitor deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2213
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_0000007
definition: A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.
database_cross_reference: ICD10CM:D68.8
database_cross_reference: OMIM:262850
database_cross_reference: ORDO:79
has_exact_synonym: antiplasmin defiency
has_exact_synonym: plasmin inhibitor deficiency
has_obo_namespace: disease_ontology
id: DOID:0060601

Axiom
annotated source: alpha-2-plasmin inhibitor deficiency
annotated property: definition
annotated target: A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11472338
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/156196

alpha-methylacyl-CoA racemase deficiency
type: Class
subclass of: DOID 906
definition: A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
database_cross_reference: MESH:C565768
database_cross_reference: OMIM:614307
has_exact_synonym: AMACR deficiency
has_obo_namespace: disease_ontology
id: DOID:0060602

Axiom
annotated source: alpha-methylacyl-CoA racemase deficiency
annotated property: definition
annotated target: A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11861706

isolated anhidrosis with normal sweat glands
type: Class
subclass of: DOID_11156
definition: An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.
database_cross_reference: OMIM:106190
has_exact_synonym: Dann-Epstein-Sohar syndrome
has_obo_namespace: disease_ontology
id: DOID:0060603

Axiom
annotated source: isolated anhidrosis with normal sweat glands
annotated property: definition
annotated target: An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/2401610

ankyloglossia
type: Class
subclass of: DOID_10944
definition: A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.
database_cross_reference: ICD10CM:Q38.1
database_cross_reference: MESH:D000072676
database_cross_reference: OMIM:106280
has_exact_synonym: tongue-tie
has_obo_namespace: disease_ontology
id: DOID:0060604

Axiom
annotated source: ankyloglossia
annotated property: definition
annotated target: A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Ankyloglossia
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18983637
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/5251442

obsolete anterior segment mesenchymal dysgenesis
type: Class
definition: An eye disease that is characterized by impaired development of the anterior segment of the eye.
has_obo_namespace: disease_ontology
id: DOID:0060605
owl:deprecated: true

fetal nicotine spectrum disorder
type: Class
subclass of: specific developmental disorder
definition: A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.
has_obo_namespace: disease_ontology
id: DOID:0060606

Axiom
annotated source: fetal nicotine spectrum disorder
annotated property: definition
annotated target: A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.
dc:type: ECO_0007645
database_cross_reference: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20363831

microcephalic osteodysplastic primordial dwarfism type I
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2256
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
database_cross_reference: GARD:5120
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MESH:C537577
database_cross_reference: OMIM:210710
database_cross_reference: ORDO:2636
has_exact_synonym: Taybi-Linder syndrome
has_exact_synonym: brachymelic primordial dwarfism
has_exact_synonym: cephaloskeletal dysplasia
has_exact_synonym: low-birth-weight dwarfism with skeletal dysplasia
has_exact_synonym: osteodysplastic primordial dwarfism type I
has_obo_namespace: disease_ontology
id: DOID:0060608

Axiom
annotated source: microcephalic osteodysplastic primordial dwarfism type I
annotated property: definition
annotated target: A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/210710
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22302400

microcephalic osteodysplastic primordial dwarfism type II
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2256
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
database_cross_reference: ICD10CM:Q87.1
database_cross_reference: MESH:C565898
database_cross_reference: OMIM:210720
database_cross_reference: ORDO:2637
has_exact_synonym: Majewski osteodysplastic primordial dwarfism type II
has_exact_synonym: osteodysplastic primordial dwarfism type II
has_obo_namespace: disease_ontology
id: DOID:0060609

Axiom
annotated source: microcephalic osteodysplastic primordial dwarfism type II
annotated property: definition
annotated target: A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/210720
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7551160

megacystis-microcolon-intestinal hypoperistalsis syndrome
type: Class
subclass of: DOID 225
definition: A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
database_cross_reference: MESH:C536138
database_cross_reference: NCI:C98982
database_cross_reference: OMIM:155310
database_cross_reference: ORDO:2241
database_cross_reference: SNOMEDCT_US_2022_09_01:253781004
database_cross_reference: UMLS_CUI:C1608393
has_exact_synonym: Berdon syndrome
has_exact_synonym: Megacystis microcolon intestinal hypoperistalsis syndrome
has_exact_synonym: megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
has_exact_synonym: visceral myopathy
has_obo_namespace: disease_ontology
id: DOID:0060610
in_subset: NCIthesaurus

Axiom
annotated source: megacystis-microcolon-intestinal hypoperistalsis syndrome
annotated property: definition
annotated target: A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Berdon_syndrome
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21792650
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25407000

abdominal obesity-metabolic syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.
database_cross_reference: GARD:9226
database_cross_reference: MESH:C535554
database_cross_reference: OMIM:PS605552
has_obo_namespace: disease_ontology
id: DOID:0060611

Axiom
annotated source: abdominal obesity-metabolic syndrome
annotated property: definition
annotated target: A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/17167477/

abdominal obesity-metabolic syndrome 3
type: Class
subclass of: abdominal obesity-metabolic syndrome
definition: An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13.
database_cross_reference: OMIM:615812
has_obo_namespace: disease_ontology
id: DOID:0060612

Axiom
annotated source: abdominal obesity-metabolic syndrome 3
annotated property: definition
annotated target: An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13.
dc:type: ECO_0007636
dc:type: ECO_0007645
database_cross_reference: url:http://omim.org/entry/615812
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24827035

X-linked cleft palate with or without ankyloglossia
type: Class
subclass of: X-linked monogenic disease
subclass of: DOID 674
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000936
definition: A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21.
database_cross_reference: OMIM:303400
database_cross_reference: ORDO:324601
has_exact_synonym: X-linked cleft palate and ankyloglossia
has_obo_namespace: disease_ontology
id: DOID:0060613

Axiom
annotated source: X-linked cleft palate with or without ankyloglossia
annotated property: definition
annotated target: A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14729838

ulnar-mammary syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
database_cross_reference: GARD:118
database_cross_reference: MESH:C536937
database_cross_reference: OMIM:181450
database_cross_reference: ORDO:3138
database_cross_reference: SNOMEDCT_US_2022_09_01:700211007
database_cross_reference: UMLS_CUI:C1866994
has_exact_synonym: Pallister ulnar-mammary syndrome
has_exact_synonym: Schinzel syndrome
has_obo_namespace: disease_ontology
id: DOID:0060614

Axiom
annotated source: ulnar-mammary syndrome
annotated property: definition
annotated target: A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8595424
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8923944

neonatal diabetes mellitus with congenital hypothyroidism
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080015
subclass of: DOID_11717
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 neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.
database_cross_reference: OMIM:610199
database_cross_reference: ORDO:79118
has_exact_synonym: NDH syndrome
has_obo_namespace: disease_ontology
id: DOID:0060638

Axiom
annotated source: neonatal diabetes mellitus with congenital hypothyroidism
annotated property: definition
annotated target: A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16715098

permanent neonatal diabetes mellitus
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: DOID_11717
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 neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
database_cross_reference: GARD:10457
database_cross_reference: OMIM:606176
has_exact_synonym: PDMI
has_exact_synonym: PNDM
has_exact_synonym: permanent diabetes mellitus of infancy
has_obo_namespace: disease_ontology
id: DOID:0060639

Axiom
annotated source: permanent neonatal diabetes mellitus
annotated property: definition
annotated target: A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17213273

ethylmalonic encephalopathy
type: Class
subclass of: DOID 700
subclass of: Restriction
  on property: RO_0002200
  some values from: HP_0012758
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000570
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
database_cross_reference: GARD:2198
database_cross_reference: MESH:C535737
database_cross_reference: OMIM:602473
database_cross_reference: ORDO:51188
database_cross_reference: SNOMEDCT_US_2022_09_01:723307008
database_cross_reference: UMLS_CUI:C1865349
has_obo_namespace: disease_ontology
id: DOID:0060640

Axiom
annotated source: ethylmalonic encephalopathy
annotated property: definition
annotated target: A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
dc:type: ECO_0007637
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20528888

endocrine-cerebro-osteodysplasia syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: OMIM:612651
database_cross_reference: ORDO:199332
has_exact_synonym: ECO syndrome
has_obo_namespace: disease_ontology
id: DOID:0060641

Axiom
annotated source: endocrine-cerebro-osteodysplasia syndrome
annotated property: definition
annotated target: A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19185282
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24853502

recessive dystrophic epidermolysis bullosa
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 4959
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
database_cross_reference: ICD10CM:Q81.2
database_cross_reference: OMIM:226600
database_cross_reference: ORDO:79408
has_exact_synonym: RDEB, Hallopeau-Siemens type
has_exact_synonym: autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
has_exact_synonym: autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
has_narrow_synonym: severe generalized RDEB
has_narrow_synonym: severe generalized recessive dystrophic epidermolysis bullosa
has_obo_namespace: disease_ontology
id: DOID:0060642

Axiom
annotated source: recessive dystrophic epidermolysis bullosa
annotated property: definition
annotated target: An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3307723
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8513326

primary sclerosing cholangitis
type: Class
subclass of: DOID_14268
definition: A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
database_cross_reference: GARD:1280
database_cross_reference: ICD10CM:K83.01
database_cross_reference: MESH:D015209
database_cross_reference: NCI:C4828
database_cross_reference: OMIM:613806
database_cross_reference: ORDO:171
database_cross_reference: SNOMEDCT_US_2022_09_01:4032000
database_cross_reference: UMLS_CUI:C0566602
has_obo_namespace: disease_ontology
id: DOID:0060643
in_subset: NCIthesaurus

Axiom
annotated source: primary sclerosing cholangitis
annotated property: definition
annotated target: A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7877651

chondrodysplasia-pseudohermaphroditism syndrome
type: Class
subclass of: DOID 225
definition: A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
database_cross_reference: MESH:C536123
database_cross_reference: OMIM:600092
database_cross_reference: ORDO:1422
database_cross_reference: SNOMEDCT_US_2022_09_01:720851007
database_cross_reference: UMLS_CUI:C1838654
has_exact_synonym: Nivelon-Nivelon-Mabille syndrome
has_exact_synonym: chondrodysplasia-disorder of sex development syndrome
has_obo_namespace: disease_ontology
id: DOID:0060644

Axiom
annotated source: chondrodysplasia-pseudohermaphroditism syndrome
annotated property: definition
annotated target: A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1342874

chronic recurrent multifocal osteomyelitis
type: Class
subclass of: spinal disease
subclass of: DOID 1019
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001130
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001270
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0003606
definition: An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
database_cross_reference: ICD10CM:M86.3
database_cross_reference: MESH:C535456
database_cross_reference: OMIM:259680
database_cross_reference: ORDO:324964
has_exact_synonym: CRMO
has_exact_synonym: chronic multifocal osteomyelitis
has_obo_namespace: disease_ontology
id: DOID:0060645
in_subset: DO_infectious_disease_slim

Axiom
annotated source: chronic recurrent multifocal osteomyelitis
annotated property: definition
annotated target: An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11973628
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/4403064

congenital chylothorax
type: Class
subclass of: DOID_0080015
subclass of: DOID 1532
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.
database_cross_reference: OMIM:603523
database_cross_reference: ORDO:264688
has_obo_namespace: disease_ontology
id: DOID:0060646

Axiom
annotated source: congenital chylothorax
annotated property: definition
annotated target: A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life.
dc:type: ECO_0007638
dc:type: ECO_0007645
database_cross_reference: url:https://en.wikipedia.org/wiki/Chylothorax
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/416049

fetal encasement syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.
database_cross_reference: OMIM:613630
database_cross_reference: ORDO:465824
has_exact_synonym: cocoon syndrome
has_obo_namespace: disease_ontology
id: DOID:0060647

Axiom
annotated source: fetal encasement syndrome
annotated property: definition
annotated target: A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20961246

anterior segment dysgenesis
type: Class
subclass of: monogenic disease
subclass of: DOID 5614
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:0060605
database_cross_reference: GARD:10025
database_cross_reference: ICD10CM:Q13.8
database_cross_reference: OMIM: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: sclerocornea with other ocular anomalies
has_obo_namespace: disease_ontology
id: DOID:0060648

Axiom
annotated source: anterior segment dysgenesis
annotated property: definition
annotated target: 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.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17914436
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/30242500

congenital hereditary endothelial dystrophy of cornea
type: Class
subclass of: autosomal recessive disease
subclass of: corneal endothelial dystrophy
subclass of: DOID_0080015
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 corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
database_cross_reference: OMIM:217700
has_exact_synonym: CHED
has_obo_namespace: disease_ontology
id: DOID:0060649

Axiom
annotated source: congenital hereditary endothelial dystrophy of cornea
annotated property: definition
annotated target: A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16767101

dicarboxylic aminoaciduria
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 9252
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids.
database_cross_reference: GARD:1855
database_cross_reference: MESH:C536171
database_cross_reference: OMIM:222730
database_cross_reference: ORDO:2195
database_cross_reference: SNOMEDCT_US_2022_09_01:716747007
database_cross_reference: UMLS_CUI:C1857253
has_exact_synonym: glutamate-aspartate transport defect
has_obo_namespace: disease_ontology
id: DOID:0060650

Axiom
annotated source: dicarboxylic aminoaciduria
annotated property: definition
annotated target: An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids.
database_cross_reference: url:https://pubmed.ncbi.nlm.nih.gov/18200002/

MYH-9 related disease
type: Class
subclass of: DOID 2218
definition: A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
database_cross_reference: ICD10CM:D69.4
database_cross_reference: OMIM:155100
database_cross_reference: ORDO:182050
has_obo_namespace: disease_ontology
id: DOID:0060651

Axiom
annotated source: MYH-9 related disease
annotated property: definition
annotated target: A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/myh9-related-disorder
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21567368

familial erythrocytosis 1
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_10780
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
database_cross_reference: ICD10CM:D75.0
database_cross_reference: OMIM:133100
database_cross_reference: ORDO:90042
has_exact_synonym: ECYT1
has_exact_synonym: autosomal dominant benign erythrocytosis
has_exact_synonym: primary familial and congenital polycythemia
has_obo_namespace: disease_ontology
id: DOID:0060652

Axiom
annotated source: familial erythrocytosis 1
annotated property: definition
annotated target: A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9292543

lethal congenital contracture syndrome 3
type: Class
subclass of: lethal congenital contracture syndrome
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
database_cross_reference: ORDO:137783
has_exact_synonym: Israeli Bedouin type B multiple contracture syndrome
has_obo_namespace: disease_ontology
id: DOID:0060653

Axiom
annotated source: lethal congenital contracture syndrome 3
annotated property: definition
annotated target: A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17701898

lethal congenital contracture syndrome 4
type: Class
subclass of: lethal congenital contracture syndrome
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
database_cross_reference: GARD:12645
has_obo_namespace: disease_ontology
id: DOID:0060654

Axiom
annotated source: lethal congenital contracture syndrome 4
annotated property: definition
annotated target: A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22610851

autosomal recessive congenital ichthyosis
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080015
subclass of: DOID 1697
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 ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
has_alternative_id: DOID:1699
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: MESH:D017490
database_cross_reference: NCI:C84805
database_cross_reference: OMIM:PS242300
database_cross_reference: ORDO:281097
database_cross_reference: SNOMEDCT_US_2022_09_01:12215009
database_cross_reference: UMLS_CUI:C0079154
has_exact_synonym: ARCI
has_exact_synonym: lamellar ichthyosis
has_exact_synonym: non bullous congenital ichthyosiform erythroderma
has_obo_namespace: disease_ontology
id: DOID:0060655
in_subset: NCIthesaurus

Axiom
annotated source: autosomal recessive congenital ichthyosis
annotated property: definition
annotated target: An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
dc:type: ECO_0007637
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1420/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20643494

autosomal recessive congenital ichthyosis 1
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:242300
database_cross_reference: ORDO:100976
database_cross_reference: ORDO:281122
database_cross_reference: ORDO:313
has_exact_synonym: ARCI1
has_narrow_synonym: bathing suit ichthyosis
has_obo_namespace: disease_ontology
id: DOID:0060656

Axiom
annotated source: autosomal recessive congenital ichthyosis 1
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7824952

anencephaly
type: Class
subclass of: DOID 2490
definition: A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
database_cross_reference: GARD:5808
database_cross_reference: ICD10CM:Q00.0
database_cross_reference: MESH:D000757
database_cross_reference: OMIM:206500
database_cross_reference: ORDO:1048
has_obo_namespace: disease_ontology
id: DOID:0060668
in_subset: DO_rare_slim

Axiom
annotated source: anencephaly
annotated property: definition
annotated target: A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
dc:type: ECO_0007637
dc:type: ECO_0007638
database_cross_reference: url:https://en.wikipedia.org/wiki/Anencephaly
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/anencephaly

cerebral cavernous malformation
type: Class
subclass of: DOID 6713
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0001893
definition: A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
has_exact_synonym: cavernous angiomatous malformations
has_exact_synonym: cerebral capillary malformations
has_exact_synonym: familial cavernous angioma
has_obo_namespace: disease_ontology
id: DOID:0060669
in_subset: DO_rare_slim

Axiom
annotated source: cerebral cavernous malformation
annotated property: definition
annotated target: A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:http://hmg.oxfordjournals.org/content/18/5/919.long
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation

cerebral cavernous malformation 2
type: Class
subclass of: cerebral cavernous malformation
definition: A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13.
database_cross_reference: ICD10CM:Q28.3
database_cross_reference: OMIM:603284
database_cross_reference: ORDO:221061
has_obo_namespace: disease_ontology
id: DOID:0060670
in_subset: DO_rare_slim

Axiom
annotated source: cerebral cavernous malformation 2
annotated property: definition
annotated target: A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14624391

cerebral cavernous malformation 3
type: Class
subclass of: cerebral cavernous malformation
definition: A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1.
database_cross_reference: ICD10CM:Q28.3
database_cross_reference: OMIM:603285
database_cross_reference: ORDO:221061
has_obo_namespace: disease_ontology
id: DOID:0060671
in_subset: DO_rare_slim

Axiom
annotated source: cerebral cavernous malformation 3
annotated property: definition
annotated target: A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15543491

Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 9255
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
database_cross_reference: ICD10CM:G31.0
database_cross_reference: OMIM:607485
has_obo_namespace: disease_ontology
id: DOID:0060672

Axiom
annotated source: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
annotated property: definition
annotated target: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16862116
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16983677

Peters anomaly
type: Class
subclass of: DOID_10124
definition: A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
database_cross_reference: GARD:7377
database_cross_reference: ICD10CM:Q13.4
database_cross_reference: MESH:C537884
database_cross_reference: OMIM:604229
database_cross_reference: ORDO:708
has_obo_namespace: disease_ontology
id: DOID:0060673
in_subset: DO_rare_slim

Axiom
annotated source: Peters anomaly
annotated property: definition
annotated target: A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11403040
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12614756
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8162071

catecholaminergic polymorphic ventricular tachycardia
type: Class
subclass of: monogenic disease
subclass of: DOID_10273
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000827
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.
database_cross_reference: ICD10CM:I47.2
database_cross_reference: OMIM:PS604772
database_cross_reference: ORDO:3286
has_obo_namespace: disease_ontology
id: DOID:0060674

Axiom
annotated source: catecholaminergic polymorphic ventricular tachycardia
annotated property: definition
annotated target: A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1289
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17875969

catecholaminergic polymorphic ventricular tachycardia 1
type: Class
subclass of: catecholaminergic polymorphic ventricular tachycardia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000827
definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.
database_cross_reference: ICD10CM:I47.2
database_cross_reference: OMIM:604772
has_exact_synonym: CVPT1
has_obo_namespace: disease_ontology
id: DOID:0060675

Axiom
annotated source: catecholaminergic polymorphic ventricular tachycardia 1
annotated property: definition
annotated target: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12093772
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17875969

catecholaminergic polymorphic ventricular tachycardia 2
type: Class
subclass of: catecholaminergic polymorphic ventricular tachycardia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000827
definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.
database_cross_reference: ICD10CM:I47.2
database_cross_reference: OMIM:611938
has_exact_synonym: CVPT2
has_obo_namespace: disease_ontology
id: DOID:0060676

Axiom
annotated source: catecholaminergic polymorphic ventricular tachycardia 2
annotated property: definition
annotated target: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11401939

catecholaminergic polymorphic ventricular tachycardia 3
type: Class
subclass of: catecholaminergic polymorphic ventricular tachycardia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000827
definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14.
database_cross_reference: ICD10CM:I47.2
database_cross_reference: OMIM:614021
has_exact_synonym: CVPT3
has_obo_namespace: disease_ontology
id: DOID:0060677

Axiom
annotated source: catecholaminergic polymorphic ventricular tachycardia 3
annotated property: definition
annotated target: A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17666061

catecholaminergic polymorphic ventricular tachycardia 4
type: Class
subclass of: catecholaminergic polymorphic ventricular tachycardia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000827
definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32.
database_cross_reference: ICD10CM:I47.2
database_cross_reference: OMIM:614916
has_exact_synonym: CVPT4
has_obo_namespace: disease_ontology
id: DOID:0060678

Axiom
annotated source: catecholaminergic polymorphic ventricular tachycardia 4
annotated property: definition
annotated target: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23040497

catecholaminergic polymorphic ventricular tachycardia 5
type: Class
subclass of: catecholaminergic polymorphic ventricular tachycardia
subclass of: Restriction
  on property: RO_0002452
  some values from: SYMP_0000827
definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.
database_cross_reference: ICD10CM:I47.2
database_cross_reference: OMIM:615441
has_exact_synonym: CVPT5
has_obo_namespace: disease_ontology
id: DOID:0060679

Axiom
annotated source: catecholaminergic polymorphic ventricular tachycardia 5
annotated property: definition
annotated target: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22422768

pigment dispersion syndrome
type: Class
subclass of: DOID 5614
definition: An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.
database_cross_reference: MESH:C563184
database_cross_reference: OMIM:600510
has_exact_synonym: glaucoma-related pigment dispersion syndrome
has_exact_synonym: pigment-dispersion type glaucoma
has_obo_namespace: disease_ontology
id: DOID:0060680

Axiom
annotated source: pigment dispersion syndrome
annotated property: definition
annotated target: An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10192392
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/3947295

autosomal dominant nocturnal frontal lobe epilepsy
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3331
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.
database_cross_reference: GARD:11918
database_cross_reference: MESH:C579932
database_cross_reference: OMIM:PS600513
database_cross_reference: ORDO:98784
has_exact_synonym: ENFL
has_obo_namespace: disease_ontology
id: DOID:0060681
in_subset: DO_rare_slim

Axiom
annotated source: autosomal dominant nocturnal frontal lobe epilepsy
annotated property: definition
annotated target: A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7895015

autosomal dominant nocturnal frontal lobe epilepsy 1
type: Class
subclass of: autosomal dominant nocturnal frontal lobe epilepsy
definition: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.
database_cross_reference: OMIM:600513
has_exact_synonym: ENFL1
has_exact_synonym: nocturnal frontal lobe epilepsy 1
has_obo_namespace: disease_ontology
id: DOID:0060682
in_subset: DO_rare_slim

Axiom
annotated source: autosomal dominant nocturnal frontal lobe epilepsy 1
annotated property: definition
annotated target: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7550350

autosomal dominant nocturnal frontal lobe epilepsy 2
type: Class
subclass of: autosomal dominant nocturnal frontal lobe epilepsy
definition: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24.
database_cross_reference: OMIM:603204
has_exact_synonym: ENFL2
has_exact_synonym: nocturnal frontal lobe epilepsy 2
has_obo_namespace: disease_ontology
id: DOID:0060683
in_subset: DO_rare_slim

Axiom
annotated source: autosomal dominant nocturnal frontal lobe epilepsy 2
annotated property: definition
annotated target: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9758605

autosomal dominant nocturnal frontal lobe epilepsy 3
type: Class
subclass of: autosomal dominant nocturnal frontal lobe epilepsy
definition: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.
database_cross_reference: OMIM:605375
has_exact_synonym: ENFL3
has_exact_synonym: nocturnal frontal lobe epilepsy 3
has_obo_namespace: disease_ontology
id: DOID:0060684
in_subset: DO_rare_slim

Axiom
annotated source: autosomal dominant nocturnal frontal lobe epilepsy 3
annotated property: definition
annotated target: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11062464

autosomal dominant nocturnal frontal lobe epilepsy 4
type: Class
subclass of: autosomal dominant nocturnal frontal lobe epilepsy
definition: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.
database_cross_reference: OMIM:610353
has_exact_synonym: ENFL4
has_exact_synonym: nocturnal frontal lobe epilepsy 4
has_obo_namespace: disease_ontology
id: DOID:0060685
in_subset: DO_rare_slim

Axiom
annotated source: autosomal dominant nocturnal frontal lobe epilepsy 4
annotated property: definition
annotated target: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16826524

autosomal dominant nocturnal frontal lobe epilepsy 5
type: Class
subclass of: autosomal dominant nocturnal frontal lobe epilepsy
definition: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
database_cross_reference: OMIM:615005
has_exact_synonym: ENFL5
has_exact_synonym: nocturnal frontal lobe epilepsy 5
has_obo_namespace: disease_ontology
id: DOID:0060686
in_subset: DO_rare_slim

Axiom
annotated source: autosomal dominant nocturnal frontal lobe epilepsy 5
annotated property: definition
annotated target: An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23086396

arteriovenous malformations of the brain
type: Class
subclass of: central nervous system benign neoplasm
subclass of: DOID 255
subclass of: DOID 6713
subclass of: Restriction
  on property: RO_0001000
  some values from: CL_0000115
subclass of: Restriction
  on property: RO_0004026
  some values from: UBERON_0000955
definition: A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.
database_cross_reference: ICD10CM:Q28.2
database_cross_reference: MESH:D002538
database_cross_reference: OMIM:108010
database_cross_reference: ORDO:46724
database_cross_reference: UMLS_CUI:C0007772
has_exact_synonym: cerebral arteriovenous malformation
has_exact_synonym: intracranial arteriovenous malformation
has_obo_namespace: disease_ontology
id: DOID:0060688
in_subset: DO_rare_slim

Axiom
annotated source: arteriovenous malformations of the brain
annotated property: definition
annotated target: A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7193302

atrichia with papular lesions
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 987
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.
database_cross_reference: ICD10CM:L65.8
database_cross_reference: MESH:C565924
database_cross_reference: OMIM:209500
database_cross_reference: ORDO:86819
has_exact_synonym: papular atrichia
has_obo_namespace: disease_ontology
id: DOID:0060689

Axiom
annotated source: atrichia with papular lesions
annotated property: definition
annotated target: An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10205263

autosomal dominant auditory neuropathy 1
type: Class
subclass of: autosomal dominant nonsyndromic deafness
definition: An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.
database_cross_reference: ICD10CM:H90.3
database_cross_reference: OMIM:609129
has_exact_synonym: AUNA1
has_exact_synonym: NSDAN
has_exact_synonym: nonsyndromic dominant auditory neuropathy
has_obo_namespace: disease_ontology
id: DOID:0060690

Axiom
annotated source: autosomal dominant auditory neuropathy 1
annotated property: definition
annotated target: An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15520414
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20624953

platelet-type bleeding disorder 16
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2218
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_0000007
definition: A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
database_cross_reference: ICD10CM:D69.4
database_cross_reference: OMIM:187800
database_cross_reference: ORDO:140957
has_exact_synonym: autosomal dominant Glanzmann thrombasthenia
has_exact_synonym: autosomal dominant thrombasthenia of Glanzmann and Naegeli
has_obo_namespace: disease_ontology
id: DOID:0060691

Axiom
annotated source: platelet-type bleeding disorder 16
annotated property: definition
annotated target: A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18065693
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21454453
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9834222

platelet-type bleeding disorder 8
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2218
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_0000007
definition: A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
database_cross_reference: ICD10CM:D69.8
database_cross_reference: OMIM:609821
database_cross_reference: ORDO:36355
has_exact_synonym: ADP platelet receptor P2Y12 defect
has_exact_synonym: P2Y12 defect
has_obo_namespace: disease_ontology
id: DOID:0060692

Axiom
annotated source: platelet-type bleeding disorder 8
annotated property: definition
annotated target: A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11196645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20966167

Brunner Syndrome
type: Class
subclass of: DOID_0080012
subclass of: DOID 9252
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.
database_cross_reference: ICD10CM:E70.8
database_cross_reference: MESH:C563156
database_cross_reference: OMIM:300615
database_cross_reference: ORDO:3057
has_exact_synonym: monoamine oxidase A deficiency
has_obo_namespace: disease_ontology
id: DOID:0060693
in_subset: DO_rare_slim

Axiom
annotated source: Brunner Syndrome
annotated property: definition
annotated target: An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8211186
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8503438

Cayman type cerebellar ataxia
type: Class
subclass of: autosomal recessive cerebellar ataxia
definition: An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
database_cross_reference: ICD10CM:G11.0
database_cross_reference: MESH:C563363
database_cross_reference: OMIM:601238
database_cross_reference: ORDO:94122
has_exact_synonym: Cayman cerebellar ataxia
has_obo_namespace: disease_ontology
id: DOID:0060694

Axiom
annotated source: Cayman type cerebellar ataxia
annotated property: definition
annotated target: An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/14556008
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8845847

hyperekplexia
type: Class
subclass of: DOID 863
definition: A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
database_cross_reference: ICD10CM:G25.8
database_cross_reference: MESH:D000071017
database_cross_reference: OMIM:PS149400
database_cross_reference: ORDO:3197
has_exact_synonym: Kok disease
has_exact_synonym: congenital stiff man syndrome
has_exact_synonym: familial startle disease
has_exact_synonym: hereditary hyperekplexia
has_exact_synonym: startle disease
has_obo_namespace: disease_ontology
id: DOID:0060695
in_subset: DO_rare_slim

Axiom
annotated source: hyperekplexia
annotated property: definition
annotated target: A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12427512
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1334371

hyperekplexia 1
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: hyperekplexia
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 hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
database_cross_reference: ICD10CM:G25.8
database_cross_reference: MESH:D000071017
database_cross_reference: OMIM:149400
database_cross_reference: ORDO:3197
has_exact_synonym: HKPX1
has_obo_namespace: disease_ontology
id: DOID:0060696
in_subset: DO_rare_slim

Axiom
annotated source: hyperekplexia 1
annotated property: definition
annotated target: A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7881416
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8298642

hyperekplexia 2
type: Class
subclass of: autosomal recessive disease
subclass of: hyperekplexia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
database_cross_reference: ICD10CM:G25.8
database_cross_reference: OMIM:614619
database_cross_reference: ORDO:3197
has_exact_synonym: HKPX2
has_obo_namespace: disease_ontology
id: DOID:0060697
in_subset: DO_rare_slim

Axiom
annotated source: hyperekplexia 2
annotated property: definition
annotated target: A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11929858
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21391991

hyperekplexia 3
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: hyperekplexia
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 hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
database_cross_reference: ICD10CM:G25.8
database_cross_reference: OMIM:614618
database_cross_reference: ORDO:3197
has_exact_synonym: HKPX3
has_obo_namespace: disease_ontology
id: DOID:0060698
in_subset: DO_rare_slim

Axiom
annotated source: hyperekplexia 3
annotated property: definition
annotated target: A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16751771
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22700964

familial hypocalciuric hypercalcemia
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_12678
subclass of: DOID 655
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.
database_cross_reference: GARD:10828
database_cross_reference: ICD10CM:E83.5
database_cross_reference: OMIM:PS145980
database_cross_reference: ORDO:405
has_exact_synonym: FBH
has_exact_synonym: FBHH
has_exact_synonym: FHH
has_exact_synonym: familial benign hypercalcemia
has_exact_synonym: familial benign hypocalciuric hypercalcemia
has_obo_namespace: disease_ontology
id: DOID:0060699

Axiom
annotated source: familial hypocalciuric hypercalcemia
annotated property: definition
annotated target: A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19809483

familial hypocalciuric hypercalcemia 1
type: Class
subclass of: familial hypocalciuric hypercalcemia
definition: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
database_cross_reference: ICD10CM:E83.5
database_cross_reference: OMIM:145980
database_cross_reference: ORDO:93372
has_exact_synonym: FHH type 1
has_exact_synonym: HHC1
has_exact_synonym: familial benign hypercalcemia 1
has_exact_synonym: familial hypocalciuric hypercalcemia type I
has_exact_synonym: hypocalciuric hypercalcemia type I
has_obo_namespace: disease_ontology
id: DOID:0060700

Axiom
annotated source: familial hypocalciuric hypercalcemia 1
annotated property: definition
annotated target: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7916660

familial hypocalciuric hypercalcemia 2
type: Class
subclass of: familial hypocalciuric hypercalcemia
definition: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.
database_cross_reference: GARD:9758
database_cross_reference: ICD10CM:E83.5
database_cross_reference: OMIM:145981
database_cross_reference: ORDO:101049
has_exact_synonym: FHH type 2
has_exact_synonym: HHC2
has_exact_synonym: familial hypocalciuric hypercalcemia type 2
has_exact_synonym: hypocalciuric hypercalcemia type II
has_obo_namespace: disease_ontology
id: DOID:0060701

Axiom
annotated source: familial hypocalciuric hypercalcemia 2
annotated property: definition
annotated target: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23802516

familial hypocalciuric hypercalcemia 3
type: Class
subclass of: familial hypocalciuric hypercalcemia
definition: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
database_cross_reference: GARD:2878
database_cross_reference: ICD10CM:E83.5
database_cross_reference: OMIM:600740
database_cross_reference: ORDO:101050
has_exact_synonym: FHH type 3
has_exact_synonym: HHC3
has_exact_synonym: familial hypocalciuric hypercalcemia type 3
has_exact_synonym: hypocalciuric hypercalcemia type III
has_obo_namespace: disease_ontology
id: DOID:0060702

Axiom
annotated source: familial hypocalciuric hypercalcemia 3
annotated property: definition
annotated target: A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23222959

Muenke Syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2340
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
database_cross_reference: GARD:7097
database_cross_reference: MESH:C537369
database_cross_reference: NCI:C84904
database_cross_reference: OMIM:602849
database_cross_reference: ORDO:53271
database_cross_reference: SNOMEDCT_US_2022_09_01:440350001
database_cross_reference: UMLS_CUI:C1864436
has_exact_synonym: FGFR3-related craniosynostosis
has_obo_namespace: disease_ontology
id: DOID:0060703
in_subset: DO_rare_slim
in_subset: NCIthesaurus

Axiom
annotated source: Muenke Syndrome
annotated property: definition
annotated target: A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18000976
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9042914

lymphoproliferative syndrome
type: Class
subclass of: DOID 612
definition: A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.
database_cross_reference: OMIM:PS308240
has_obo_namespace: disease_ontology
id: DOID:0060704
in_subset: DO_rare_slim

Axiom
annotated source: lymphoproliferative syndrome
annotated property: definition
annotated target: A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/198660
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22197273

X-linked lymphoproliferative syndrome 1
type: Class
subclass of: lymphoproliferative syndrome
subclass of: DOID_0080012
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.
database_cross_reference: GARD:7906
database_cross_reference: ICD10CM:D82.3
database_cross_reference: OMIM:308240
has_exact_synonym: XLP1
has_obo_namespace: disease_ontology
id: DOID:0060705
in_subset: DO_rare_slim

Axiom
annotated source: X-linked lymphoproliferative syndrome 1
annotated property: definition
annotated target: A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6283885
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9771704

X-linked lymphoproliferative syndrome 2
type: Class
subclass of: lymphoproliferative syndrome
subclass of: DOID_0080012
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
definition: A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
database_cross_reference: GARD:10916
database_cross_reference: ICD10CM:D82.3
database_cross_reference: OMIM:300635
has_exact_synonym: XIAP deficiency
has_exact_synonym: XLP2
has_obo_namespace: disease_ontology
id: DOID:0060706
in_subset: DO_rare_slim

Axiom
annotated source: X-linked lymphoproliferative syndrome 2
annotated property: definition
annotated target: A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17080092

lymphoproliferative syndrome 1
type: Class
subclass of: autosomal recessive disease
subclass of: lymphoproliferative syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
database_cross_reference: ICD10CM:D47.9
database_cross_reference: OMIM:613011
has_exact_synonym: LPFS1
has_obo_namespace: disease_ontology
id: DOID:0060707
in_subset: DO_rare_slim

Axiom
annotated source: lymphoproliferative syndrome 1
annotated property: definition
annotated target: A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19425169
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21109689

lymphoproliferative syndrome 2
type: Class
subclass of: autosomal recessive disease
subclass of: lymphoproliferative syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.
database_cross_reference: ICD10CM:D47.9
database_cross_reference: OMIM:615122
has_exact_synonym: CD27 deficiency
has_exact_synonym: LPFS2
has_obo_namespace: disease_ontology
id: DOID:0060708
in_subset: DO_rare_slim

Axiom
annotated source: lymphoproliferative syndrome 2
annotated property: definition
annotated target: A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22197273
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22801960

autosomal recessive congenital ichthyosis 2
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:242100
has_exact_synonym: ARCI2
has_exact_synonym: BROCQ congenital ichthyosiform erythroderma nonbullous form
has_exact_synonym: NCIE1
has_exact_synonym: nonbullous congenital ichthyosiform erythroderma 1
has_obo_namespace: disease_ontology
id: DOID:0060710
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 2
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11773004
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16116617

autosomal recessive congenital ichthyosis 3
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:606545
has_exact_synonym: ARCI3
has_exact_synonym: lamellar ichthyosis 5
has_obo_namespace: disease_ontology
id: DOID:0060711
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 3
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11398099
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11773004

autosomal recessive congenital ichthyosis 4A
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:601277
has_exact_synonym: ARCI4A
has_exact_synonym: ICR2B
has_exact_synonym: ichthyosis congenita IIB
has_exact_synonym: lamellar ichthyosis 2
has_obo_namespace: disease_ontology
id: DOID:0060712
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 4A
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10094194
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20672373

autosomal recessive congenital ichthyosis 4B
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
database_cross_reference: ICD10CM:Q80.4
database_cross_reference: OMIM:242500
database_cross_reference: ORDO:457
has_exact_synonym: ARCI4B
has_exact_synonym: harlequin ichthyosis
has_exact_synonym: harlequin type ichthyosis congenita
has_exact_synonym: harlequin type ichthyosis fetalis
has_obo_namespace: disease_ontology
id: DOID:0060713
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 4B
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
dc:type: ECO_0007637
dc:type: ECO_0007645
database_cross_reference: url:https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21339420

autosomal recessive congenital ichthyosis 5
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:604777
has_exact_synonym: ARCI5
has_exact_synonym: autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
has_obo_namespace: disease_ontology
id: DOID:0060714
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 5
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10712223
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16436457

autosomal recessive congenital ichthyosis 6
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:612281
has_exact_synonym: ARCI6
has_obo_namespace: disease_ontology
id: DOID:0060715
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 6
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16436457
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17557927

autosomal recessive congenital ichthyosis 7
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:615022
has_exact_synonym: ARCI7
has_obo_namespace: disease_ontology
id: DOID:0060716
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 7
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16117785

autosomal recessive congenital ichthyosis 8
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:613943
has_exact_synonym: ARCI8
has_exact_synonym: lamellar ichthyosis 4
has_exact_synonym: late-onset lamellar ichthyosis
has_obo_namespace: disease_ontology
id: DOID:0060717
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 8
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21439540

autosomal recessive congenital ichthyosis 9
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:615023
has_exact_synonym: ARCI9
has_obo_namespace: disease_ontology
id: DOID:0060718
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 9
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21093221
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/23754960

autosomal recessive congenital ichthyosis 10
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
database_cross_reference: ICD10CM:Q80.2
database_cross_reference: OMIM:615024
has_exact_synonym: ARCI10
has_obo_namespace: disease_ontology
id: DOID:0060719
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 10
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/22246504

autosomal recessive congenital ichthyosis 11
type: Class
subclass of: autosomal recessive congenital ichthyosis
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
database_cross_reference: ICD10CM:Q80.8
database_cross_reference: OMIM:602400
has_exact_synonym: IFAH syndrome
has_exact_synonym: IHS
has_exact_synonym: autosomal recessive ichthyosis with hypotrichosis
has_exact_synonym: hypotrichosis-congenital ichthyosis syndrome
has_exact_synonym: ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
has_exact_synonym: ichthyosis-follicular atrophoderma-hypotrichosis syndrome
has_exact_synonym: ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
has_exact_synonym: ichthyosis-hypotrichosis syndrome
has_obo_namespace: disease_ontology
id: DOID:0060720
in_subset: DO_rare_slim

Axiom
annotated source: autosomal recessive congenital ichthyosis 11
annotated property: definition
annotated target: An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17273967
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18843291
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9450882

NGLY1-deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 2978
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24.
database_cross_reference: ICD10CM:E77.8
database_cross_reference: MESH:C000626124
database_cross_reference: OMIM:615273
database_cross_reference: ORDO:404454
has_exact_synonym: NGLY1-CDDG
has_exact_synonym: congenital disorder of deglycosylation
has_exact_synonym: congenital disorder of glycosylation type Iv
has_exact_synonym: deficiency of N-glycanase 1
has_obo_namespace: disease_ontology
id: DOID:0060728

Axiom
annotated source: NGLY1-deficiency
annotated property: definition
annotated target: A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24651605
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/27388694

torsion dystonia 1
type: Class
subclass of: autosomal dominant disease
subclass of: generalized dystonia
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.
database_cross_reference: ICD10CM:G24.1
database_cross_reference: OMIM:128100
database_cross_reference: ORDO:256
has_exact_synonym: dystonia musculorum deformans
has_obo_namespace: disease_ontology
id: DOID:0060730

Axiom
annotated source: torsion dystonia 1
annotated property: definition
annotated target: A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11912106
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9288096

congenital central hypoventilation syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID_0080015
subclass of: DOID_11465
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004019
  some values from: HP_0001197
definition: An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
database_cross_reference: GARD:8535
database_cross_reference: ICD10CM:G47.3
database_cross_reference: MESH:C536209
database_cross_reference: OMIM:209880
database_cross_reference: ORDO:661
has_exact_synonym: CCHS
has_exact_synonym: Ondine curse
has_exact_synonym: Ondine syndrome
has_exact_synonym: central congenital hypoventilation syndrome
has_exact_synonym: congenital central alveolar hypoventilation syndrome
has_obo_namespace: disease_ontology
id: DOID:0060731

Axiom
annotated source: congenital central hypoventilation syndrome
annotated property: definition
annotated target: An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11840487
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12640453
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8135282
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8696331

chromosome 9p deletion syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C538024
database_cross_reference: OMIM:158170
database_cross_reference: ORDO:261112
has_exact_synonym: 9p syndrome
has_exact_synonym: Alfi syndrome
has_exact_synonym: monosomy 9p syndrome
has_obo_namespace: disease_ontology
id: DOID:0060732

Axiom
annotated source: chromosome 9p deletion syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18452192
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/4541805
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6985017

junctional epidermolysis bullosa with pyloric atresia
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 3209
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.
database_cross_reference: ICD10CM:Q81.8
database_cross_reference: OMIM:226730
database_cross_reference: ORDO:79403
has_exact_synonym: Carmi syndrome
has_exact_synonym: JEB-PA
has_exact_synonym: epidermolysis bullosa junctionalis with pyloric atresia
has_exact_synonym: junctional epidermolysis bullosa-pyloric atresia syndrome
has_obo_namespace: disease_ontology
id: DOID:0060733

Axiom
annotated source: junctional epidermolysis bullosa with pyloric atresia
annotated property: definition
annotated target: A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16473856
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7545057
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9185503

epidermolysis bullosa simplex Dowling-Meara type
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 4644
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
database_cross_reference: ICD10CM:Q81.0
database_cross_reference: OMIM:131760
database_cross_reference: ORDO:79396
has_exact_synonym: EBS-gen sev
has_exact_synonym: EBSDM
has_exact_synonym: epidermolysis bullosa herpetiformis Dowling-Meara type
has_exact_synonym: epidermolysis bullosa simplex, herpetiformis
has_exact_synonym: generalized severe epidermolysis bullosa simplex
has_obo_namespace: disease_ontology
id: DOID:0060735

Axiom
annotated source: epidermolysis bullosa simplex Dowling-Meara type
annotated property: definition
annotated target: An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1369/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1372711
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1717157
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18374450

epidermolysis bullosa simplex Ogna type
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 4644
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
database_cross_reference: ICD10CM:Q81.0
database_cross_reference: OMIM:131950
database_cross_reference: ORDO:79401
has_exact_synonym: EBS-O
has_exact_synonym: EBS-Og
has_exact_synonym: EBSOG
has_obo_namespace: disease_ontology
id: DOID:0060736

Axiom
annotated source: epidermolysis bullosa simplex Ogna type
annotated property: definition
annotated target: An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11851880

junctional epidermolysis bullosa Herlitz type
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 3209
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
database_cross_reference: ICD10CM:Q81.1
database_cross_reference: OMIM:226700
database_cross_reference: ORDO:79404
has_exact_synonym: Herlitz type epidermolysis bullosa junctionalis
has_exact_synonym: Herlitz-Pearson-type epidermolysis bullosa
has_exact_synonym: JEB-H
has_exact_synonym: JEB-Herlitz type
has_exact_synonym: epidermolysis bullosa letalis
has_exact_synonym: junctional epidermolysis bullosa generalisata gravis
has_exact_synonym: junctional epidermolysis bullosa, Herlitz-Pearson type
has_obo_namespace: disease_ontology
id: DOID:0060737

Axiom
annotated source: junctional epidermolysis bullosa Herlitz type
annotated property: definition
annotated target: A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18374450
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8012393
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8586427

junctional epidermolysis bullosa non-Herlitz type
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 3209
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.
database_cross_reference: ICD10CM:Q81.8
database_cross_reference: OMIM:226650
database_cross_reference: ORDO:79402
database_cross_reference: ORDO:89840
has_exact_synonym: GABEB
has_exact_synonym: JEB-nH gen
has_exact_synonym: JEN-nH
has_exact_synonym: generalized atrophic benign epidermolysis bullosa
has_exact_synonym: generalized junctional epidermolysis bullosa, non-Herlitz type
has_exact_synonym: junctional epidermolysis bullosa generalisata mitis
has_exact_synonym: junctional epidermolysis bullosa, Disentis type
has_obo_namespace: disease_ontology
id: DOID:0060738

Axiom
annotated source: junctional epidermolysis bullosa non-Herlitz type
annotated property: definition
annotated target: A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10792571
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11810295
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18374450
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7550320
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7706760

hand-foot-genital syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
subclass of: Restriction
  on property: RO_0004026
  some values from: Class
    intersection of: UBERON_0002387
    intersection of: UBERON_0002398
definition: A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
database_cross_reference: GARD:2594
database_cross_reference: ICD10CM:Q51.2
database_cross_reference: OMIM:140000
database_cross_reference: ORDO:2438
has_exact_synonym: HFGS
has_exact_synonym: hand-foot-uterus syndrome
has_obo_namespace: disease_ontology
id: DOID:0060739

Axiom
annotated source: hand-foot-genital syndrome
annotated property: definition
annotated target: A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/5450271
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9020844

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
type: Class
subclass of: DOID_14749
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
database_cross_reference: ICD10CM:E71.1
database_cross_reference: MESH:C565390
database_cross_reference: OMIM:251000
database_cross_reference: ORDO:27
has_exact_synonym: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
has_exact_synonym: methylmalonic aciduria mut type
has_exact_synonym: vitamin B12-unresponsive methylmalonic aciduria
has_obo_namespace: disease_ontology
id: DOID:0060740

Axiom
annotated source: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
annotated property: definition
annotated target: A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1975493
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/1977311

methylmalonic acidemia due to transcobalamin receptor defect
type: Class
subclass of: DOID_14749
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
database_cross_reference: ICD10CM:E71.1
database_cross_reference: OMIM:613646
database_cross_reference: ORDO:280183
has_exact_synonym: methylmalonic acidemia, TCblR type
has_exact_synonym: methylmalonic aciduria due to transcobalamin receptor defect
has_obo_namespace: disease_ontology
id: DOID:0060741

Axiom
annotated source: methylmalonic acidemia due to transcobalamin receptor defect
annotated property: definition
annotated target: A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20524213

methylmalonic acidemia cblA type
type: Class
subclass of: DOID_14749
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
database_cross_reference: ICD10CM:E71.1
database_cross_reference: OMIM:251100
database_cross_reference: ORDO:79310
has_exact_synonym: methylmalonic aciduria cblA type
has_exact_synonym: methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
has_obo_namespace: disease_ontology
id: DOID:0060742

Axiom
annotated source: methylmalonic acidemia cblA type
annotated property: definition
annotated target: A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12438653
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/5686220

methylmalonic acidemia cblB type
type: Class
subclass of: DOID_14749
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0001537
definition: A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
database_cross_reference: ICD10CM:E71.1
database_cross_reference: OMIM:251110
database_cross_reference: ORDO:79311
has_exact_synonym: methylmalonic aciduria cblB type
has_exact_synonym: methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
has_obo_namespace: disease_ontology
id: DOID:0060743

Axiom
annotated source: methylmalonic acidemia cblB type
annotated property: definition
annotated target: A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12471062
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/7213387

Pendred Syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
database_cross_reference: GARD:4271
database_cross_reference: ICD10CM:E07.1
database_cross_reference: MESH:C536648
database_cross_reference: NCI:C121745
database_cross_reference: OMIM:274600
database_cross_reference: ORDO:705
database_cross_reference: SNOMEDCT_US_2022_09_01:70348004
database_cross_reference: UMLS_CUI:C0271829
has_exact_synonym: TDH2B
has_exact_synonym: congenital hypothyroidism due to dyshormonogenesis 2B
has_exact_synonym: deafness with goiter
has_exact_synonym: genetic defect in thyroid hormonogenesis 2B
has_exact_synonym: goiter-deafness syndrome
has_exact_synonym: thyroid dyshormonogenesis 2B
has_obo_namespace: disease_ontology
id: DOID:0060744
in_subset: NCIthesaurus

Axiom
annotated source: Pendred Syndrome
annotated property: definition
annotated target: A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9398842

Doyne honeycomb retinal dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 2569
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16.
database_cross_reference: GARD:1912
database_cross_reference: ICD10CM:H35.5
database_cross_reference: MESH:C535602
database_cross_reference: OMIM:126600
database_cross_reference: ORDO:75376
has_exact_synonym: DHRD
has_exact_synonym: Doyne honeycomb degeneration of retina
has_obo_namespace: disease_ontology
id: DOID:0060745

Axiom
annotated source: Doyne honeycomb retinal dystrophy
annotated property: definition
annotated target: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10369267
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11384588

basal laminar drusen
type: Class
subclass of: monogenic disease
subclass of: DOID 2569
subclass of: Restriction
  on property: RO_0004019
  some values from: SO_0000704
definition: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.
database_cross_reference: ICD10CM:H35.5
database_cross_reference: MESH:C563034
database_cross_reference: OMIM:126700
database_cross_reference: ORDO:75376
has_exact_synonym: cuticular drusen
has_exact_synonym: drusen of bruch membrane
has_exact_synonym: early adult-onset grouped drusen
has_obo_namespace: disease_ontology
id: DOID:0060746

Axiom
annotated source: basal laminar drusen
annotated property: definition
annotated target: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18252232
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/5448127

Duane-radial ray syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 225
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
database_cross_reference: GARD:9182
database_cross_reference: ICD10CM:Q87.8
database_cross_reference: OMIM:607323
database_cross_reference: ORDO:93293
has_exact_synonym: DR syndrome
has_exact_synonym: Duane anomaly with radial ray abnormalities and deafness
has_exact_synonym: Okihiro syndrome
has_exact_synonym: acrorenocular syndrome
has_obo_namespace: disease_ontology
id: DOID:0060747

Axiom
annotated source: Duane-radial ray syndrome
annotated property: definition
annotated target: A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12393809
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12843316
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8882787

familial temporal lobe epilepsy 1
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.
database_cross_reference: OMIM:600512
database_cross_reference: ORDO:101046
has_exact_synonym: ETL1
has_exact_synonym: partial epilepsy with auditory features
has_obo_namespace: disease_ontology
id: DOID:0060748

Axiom
annotated source: familial temporal lobe epilepsy 1
annotated property: definition
annotated target: A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10851389
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12205652
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15079010

familial temporal lobe epilepsy 6
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.
database_cross_reference: OMIM:615697
database_cross_reference: ORDO:163717
has_exact_synonym: ETL6
has_obo_namespace: disease_ontology
id: DOID:0060749

Axiom
annotated source: familial temporal lobe epilepsy 6
annotated property: definition
annotated target: A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24021842

familial temporal lobe epilepsy 3
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.
database_cross_reference: OMIM:611630
database_cross_reference: ORDO:163717
has_exact_synonym: FMTLE
has_exact_synonym: familial mesial temporal lobe epilepsy
has_obo_namespace: disease_ontology
id: DOID:0060750

Axiom
annotated source: familial temporal lobe epilepsy 3
annotated property: definition
annotated target: A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17377072

familial temporal lobe epilepsy 7
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.
database_cross_reference: OMIM:616436
database_cross_reference: ORDO:101046
has_exact_synonym: ETL7
has_obo_namespace: disease_ontology
id: DOID:0060751

Axiom
annotated source: familial temporal lobe epilepsy 7
annotated property: definition
annotated target: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26046367

familial temporal lobe epilepsy 5
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: DOID 3328
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 temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.
database_cross_reference: OMIM:614417
database_cross_reference: ORDO:163717
has_exact_synonym: ETL5
has_obo_namespace: disease_ontology
id: DOID:0060752

Axiom
annotated source: familial temporal lobe epilepsy 5
annotated property: definition
annotated target: A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21922598

familial temporal lobe epilepsy 4
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.
database_cross_reference: OMIM:611631
database_cross_reference: ORDO:98819
has_exact_synonym: EPOLM
has_exact_synonym: ETL4
has_exact_synonym: occipitotemporal lobe epilepsy and migraine with aura
has_obo_namespace: disease_ontology
id: DOID:0060753

Axiom
annotated source: familial temporal lobe epilepsy 4
annotated property: definition
annotated target: A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17460155
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/18332351

familial temporal lobe epilepsy 8
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13.
database_cross_reference: OMIM:616461
database_cross_reference: ORDO:101046
has_exact_synonym: ETL8
has_obo_namespace: disease_ontology
id: DOID:0060754

Axiom
annotated source: familial temporal lobe epilepsy 8
annotated property: definition
annotated target: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25691535

familial temporal lobe epilepsy 2
type: Class
subclass of: autosomal dominant disease
subclass of: DOID 3328
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3.
database_cross_reference: OMIM:608096
database_cross_reference: ORDO:98819
has_exact_synonym: ETL2
has_obo_namespace: disease_ontology
id: DOID:0060755

Axiom
annotated source: familial temporal lobe epilepsy 2
annotated property: definition
annotated target: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12011300
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15342703

sclerosteosis 1
type: Class
subclass of: autosomal recessive disease
subclass of: sclerosteosis
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.
database_cross_reference: ICD10CM:M85.2
database_cross_reference: OMIM:269500
database_cross_reference: ORDO:3152
has_exact_synonym: SOST1
has_obo_namespace: disease_ontology
id: DOID:0060756

Axiom
annotated source: sclerosteosis 1
annotated property: definition
annotated target: A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11179006

sclerosteosis 2
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: sclerosteosis
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 sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.
database_cross_reference: ICD10CM:M85.2
database_cross_reference: OMIM:614305
database_cross_reference: ORDO:3152
has_exact_synonym: SOST2
has_obo_namespace: disease_ontology
id: DOID:0060757

Axiom
annotated source: sclerosteosis 2
annotated property: definition
annotated target: A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21471202

immunodeficiency with hyper-IgM type 2
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080544
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
database_cross_reference: ICD10CM:D80.5
database_cross_reference: OMIM:605258
database_cross_reference: ORDO:101089
database_cross_reference: ORDO:183666
has_exact_synonym: AID deficiency
has_exact_synonym: HIGM2
has_exact_synonym: activation-induced cytidine deaminase deficiency
has_exact_synonym: hyper-IgM syndrome type 2
has_obo_namespace: disease_ontology
id: DOID:0060758

Axiom
annotated source: immunodeficiency with hyper-IgM type 2
annotated property: definition
annotated target: A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/11007475

immunodeficiency with hyper IgM type 5
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080544
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
database_cross_reference: ICD10CM:D80.5
database_cross_reference: OMIM:608106
database_cross_reference: ORDO:101092
database_cross_reference: ORDO:183666
has_exact_synonym: HIGM5
has_exact_synonym: hyper-IgM syndrome 5
has_exact_synonym: hyper-IgM syndrome due to UNG deficiency
has_exact_synonym: hyper-IgM syndrome due to uracil N-glycosylase
has_obo_namespace: disease_ontology
id: DOID:0060759

Axiom
annotated source: immunodeficiency with hyper IgM type 5
annotated property: definition
annotated target: A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12958596

immunodeficiency with hyper-IgM type 4
type: Class
subclass of: DOID_0080544
definition: A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
database_cross_reference: ICD10CM:D80.5
database_cross_reference: OMIM:608184
database_cross_reference: ORDO:101091
database_cross_reference: ORDO:183666
has_exact_synonym: HIGM4
has_exact_synonym: hyper-IgM syndrome type 4
has_obo_namespace: disease_ontology
id: DOID:0060760

Axiom
annotated source: immunodeficiency with hyper-IgM type 4
annotated property: definition
annotated target: A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/12840068

familial chronic myelocytic leukemia-like syndrome
type: Class
subclass of: DOID 8552
definition: A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
database_cross_reference: OMIM:600080
has_exact_synonym: familial CML-like syndrome
has_obo_namespace: disease_ontology
id: DOID:0060761

Axiom
annotated source: familial chronic myelocytic leukemia-like syndrome
annotated property: definition
annotated target: A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/8086739

lethal restrictive dermopathy
type: Class
subclass of: autosomal recessive disease
subclass of: DOID 37
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
database_cross_reference: MESH:C536920
database_cross_reference: OMIM:275210
database_cross_reference: ORDO:1662
database_cross_reference: SNOMEDCT_US_2022_09_01:400128006
database_cross_reference: UMLS_CUI:C0406585
has_exact_synonym: hyperkeratosis-contracture syndrome
has_exact_synonym: tight skin contracture syndrome
has_obo_namespace: disease_ontology
id: DOID:0060762

Axiom
annotated source: lethal restrictive dermopathy
annotated property: definition
annotated target: A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/15317753
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/20101687

X-linked juvenile retinoschisis 1
type: Class
subclass of: DOID_0080012
subclass of: DOID 8465
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000149
subclass of: Restriction
  on property: RO_0002488
  some values from: HP_0011462
definition: A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.
database_cross_reference: ICD10CM:Q14.1
database_cross_reference: OMIM:312700
database_cross_reference: ORDO:792
has_exact_synonym: X-linked juvenile retinoschisis
has_exact_synonym: X-linked retinoschisis
has_exact_synonym: XLRS
has_obo_namespace: disease_ontology
id: DOID:0060763

Axiom
annotated source: X-linked juvenile retinoschisis 1
annotated property: definition
annotated target: A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/17172462
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/9326935

autosomal recessive Robinow syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: Robinow syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000148
definition: A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
database_cross_reference: OMIM:268310
database_cross_reference: ORDO:1507
has_exact_synonym: COVESDEM syndrome
has_exact_synonym: RRS
has_exact_synonym: costovertebral segmentation defect-mesomelia syndrome
has_obo_namespace: disease_ontology
id: DOID:0060764

Axiom
annotated source: autosomal recessive Robinow syndrome
annotated property: definition
annotated target: A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10932186
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/10932187

autosomal dominant Robinow syndrome 2
type: Class
subclass of: autosomal dominant disease
subclass of: Robinow syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
database_cross_reference: OMIM:616331
database_cross_reference: ORDO:3107
has_exact_synonym: DRS2
has_obo_namespace: disease_ontology
id: DOID:0060765

Axiom
annotated source: autosomal dominant Robinow syndrome 2
annotated property: definition
annotated target: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/25817014
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26924530

autosomal dominant Robinow syndrome 1
type: Class
subclass of: autosomal dominant disease
subclass of: Robinow syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
database_cross_reference: OMIM:180700
database_cross_reference: ORDO:3107
has_exact_synonym: DRS1
has_obo_namespace: disease_ontology
id: DOID:0060766

Axiom
annotated source: autosomal dominant Robinow syndrome 1
annotated property: definition
annotated target: A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/19918918
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/24716670

autosomal dominant Robinow syndrome 3
type: Class
subclass of: autosomal dominant disease
subclass of: Robinow syndrome
subclass of: Restriction
  on property: has material basis in
  some values from: GENO_0000147
definition: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.
database_cross_reference: OMIM:616894
database_cross_reference: ORDO:3107
database_cross_reference: ORDO:97360
has_exact_synonym: DRS3
has_obo_namespace: disease_ontology
id: DOID:0060767

Axiom
annotated source: autosomal dominant Robinow syndrome 3
annotated property: definition
annotated target: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.
dc:type: ECO_0007645
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/26924530

Smith-Magenis syndrome
type: Class
subclass of: chromosomal deletion syndrome
definition: A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
database_cross_reference: GARD:8197
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:D058496
database_cross_reference: OMIM:182290
database_cross_reference: ORDO:819
has_exact_synonym: 17p11.2 microdeletion syndrome
has_exact_synonym: chromosome 17p11.2 deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060768

Axiom
annotated source: Smith-Magenis syndrome
annotated property: definition
annotated target: A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
dc:type: ECO_0007645
dc:type: ECO_0007646
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/books/NBK1310/
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/16845274
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/21844811
database_cross_reference: url:https://www.ncbi.nlm.nih.gov/pubmed/6745947

T-cell immunodeficiency, congenital alopecia, and nail dystrophy
type: Class
subclass of: autosomal recessive disease
subclass of: DOID_0080015
subclass of: DOID 627
definition: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
database_cross_reference: ICD10CM:D82.8
database_cross_reference: MESH:C536781
database_cross_reference: OMIM:601705
database_cross_reference: ORDO:169095
has_exact_synonym: alymphoid cystic thymic dysgenesis
has_exact_synonym: severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
has_exact_synonym: winged helix deficiency
has_obo_namespace: disease_ontology
id: DOID:0060769