Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

disorder of sexual differentiation
Synonyms

disorders of sex development (DSD)

CARD

DSD

intersex

conditions affecting reproductive development

intersex conditions

disorders of sex development

disorder of sexual differentiation

sex differentiation disease

disorder of sex differentiation

differences of sex development

sexual differentiation disorder

sex differentiation disorder

disorder of sex development

Definitions

A congenital disorder characterized by abnormalities in the development of the sexual characteristics.

ID

http://purl.obolibrary.org/obo/MONDO_0002145

database_cross_reference

GTR:AN1172969

NCIT:C103186

UMLS:C2930619

Orphanet:90771

MESH:D012734

NANDO:2100140

MedDRA:10070597

MEDGEN:415936

SCTID:39179006

DOID:1923

definition

A congenital disorder characterized by abnormalities in the development of the sexual characteristics.

has_broad_synonym

CARD

DSD

has_exact_synonym

intersex

conditions affecting reproductive development

intersex conditions

disorders of sex development

disorder of sexual differentiation

sex differentiation disease

disorder of sex differentiation

differences of sex development

sexual differentiation disorder

sex differentiation disorder

disorder of sex development

has_related_synonym

disorders of sex development (DSD)

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4949

https://github.com/monarch-initiative/mondo/issues/4091

id

MONDO:0002145

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

label

disorder of sexual differentiation

notation

MONDO:0002145

prefLabel

disorder of sexual differentiation

skos_closeMatch

http://identifiers.org/meddra/10070597

skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_90771

http://identifiers.org/mesh/D012734

http://identifiers.org/snomedct/39179006

http://identifiers.org/medgen/415936

http://linkedlifedata.com/resource/umls/id/C2930619

http://purl.obolibrary.org/obo/NCIT_C103186

http://purl.obolibrary.org/obo/DOID_1923

terms_conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml

http://purl.obolibrary.org/obo/disrupts_process.yaml

treeView

http://purl.obolibrary.org/obo/MONDO_0019755

http://purl.obolibrary.org/obo/MONDO_0002259

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019755

http://purl.obolibrary.org/obo/MONDO_0002259

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