Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

androgen insensitivity syndrome

Synonyms

Feminisation - testicular

Definitions

A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

GARD:5803

ICD10CM:E34.5

ICD9CM:259.51

NCI:C27226

OMIM:300068

SNOMEDCT_US_2022_09_01:12313004

ORDO:754

MESH:D013734

UMLS_CUI:C0039585

definition

A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.

has exact synonym

Feminisation - testicular

Goldberg - Maxwell syndrome

Androgen resistance syndrome

Goldberg-Maxwell syndrome

testicular feminization

Androgen-Insensitivity Syndrome

testicular Feminization syndrome

has narrower match

MESH:D013734

has_alternative_id

DOID:4672

has_obo_namespace

disease_ontology

id

DOID:4674

in_subset

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

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

label

androgen insensitivity syndrome

notation

DOID:4674

prefLabel

androgen insensitivity syndrome

subClassOf

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

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/300068 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10CM/E34.5 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98812 National Cancer Institute Thesaurus LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27226 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D013734 Medical Subject Headings LOOM