PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Androgen-Insensitivity Syndrome
Synonyms
Definitions

A sex differentiation disease that is characterized by the partial or complete 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.

ID

http://www.phoc.org.cn/pmo/class/PMO_00037256

Database_Cross_Reference

RCD:X40Nn

ICD9CM:259.51

OMIM:313700

SNOMEDCT_US:12313004

MTH:NOCODE

ICD9CM:259.5

ICD10CM:E34.50

OMIM:300068

DO:DOID:4674

NDFRT:N0000002913

SNM:D-2651

MSH:D013734

NCI:C27226

ICD10AM:E34.5

MDR:10056292

NCI_NICHD:C27226

ICD10:E34.5

ICD10CM:E34.5

MEDCIN:279008

CHV:0000012115

SNMI:D6-80300

Definition

A sex differentiation disease that is characterized by the partial or complete 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.

label

Androgen-Insensitivity Syndrome

MCID

MC00012625

PMOID

PMO:00037256

prefixIRI

pmo:PMO_00037256

prefLabel

Androgen-Insensitivity Syndrome

Synonym

testicular Feminization syndrome

Androgen Insensitivity Syndromes

Androgen-Insensitivity Syndrome [Disease/Finding]

Feminisation - testicular

Androgen Resistance Syndromes

Goldberg-Maxwell syndrome

Resistance Syndromes, Androgen

Androgen Resistance Syndrome

Goldberg - Maxwell syndrome

Testicular Feminization Syndrome

TESTICULAR FEMINIZATION SYNDROME

Androgen insensitivity syndrome, unspecified

AR DEFICIENCY

Androgen insensitvty syn

Insensitivity Syndromes, Androgen

Insensitivity Syndrome, Androgen

androgen insensitivity syndrome

TFM

Androgen resistance syndrome (disorder)

Male Pseudohermaphroditism Due to Androgen Insensitivity

androgen-insensitivity syndrome

ANDROGEN RECEPTOR DEFICIENCY

androgen insensitivity syndrome (diagnosis)

Androgen-Insensitivity Syndromes

Androgen Insensitivity Syndrome

Resistance Syndrome, Androgen

testicular feminization

Androgen insensitivity syndrome

AIS

ANDROGEN INSENSITIVITY SYNDROME

DHTR DEFICIENCY

DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY

Androgen resistance syndrome

Androgen resistance syndrome, NOS

Tree Number

T9.19.2.5.6.2.6

T9.9.9.5.2.6

T9.8.3.11.6.2.6

T9.24.4.6.2.6

T9.8.4.41.9

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036611

http://www.phoc.org.cn/pmo/class/PMO_00037255

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Delete Mapping To Ontology Source
http://www.owl-ontologies.com/NPOntology.owl#DOID_4674 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD9CM/259.51 ICD9CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.706.316.096.500 RH-MESH LOOM
http://identifiers.org/omim/300068 REXO LOOM
http://identifiers.org/omim/300068 GEXO LOOM
http://identifiers.org/omim/300068 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013734 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.875.253.096.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056292 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_300068 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.061 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Testicular_Feminization_Syndrome CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#12115 OCHV LOOM
rgo:24776 GAMUTS LOOM
http://purl.bioontology.org/ontology/ICD10CM/E34.5 ICD10CM LOOM
http://nanbyodata.jp/ontology/NANDO_2200391 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27226 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_918 HRDO LOOM
http://purl.obolibrary.org/obo/OMIT_0014589 OMIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0039585 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/300068 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.939.316.096.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C27226 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.119.096.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0019154 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019154 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019154 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_4674 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4674 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4674 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4674 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4674 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4674 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4674 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4674 FNS-H LOOM
http://purl.jp/bio/4/id/200906085063934510 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_754 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D013734 MESH LOOM
http://purl.bioontology.org/ontology/ICD9CM/259.5 ICD9CM LOOM