Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

partial androgen insensitivity syndrome

Synonyms

Reifenstein syndrome

Definitions

An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.

ID

http://purl.obolibrary.org/obo/DOID_0080776

database_cross_reference

OMIM:312300

ORDO:90797

GARD:5692

definition

An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.

has exact synonym

Reifenstein syndrome

has material basis in

http://purl.obolibrary.org/obo/GENO_0000149

has_obo_namespace

disease_ontology

id

DOID:0080776

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

partial androgen insensitivity syndrome

notation

DOID:0080776

prefLabel

partial androgen insensitivity syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_4674

http://purl.obolibrary.org/obo/DOID_0080012

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120192 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10CM/E34.52 International Classification of Diseases, Version 10 - Clinical Modification LOOM