Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ANDROGEN INSENSITIVITY SYNDROME
Synonyms

TFM

ANDROGEN RECEPTOR DEFICIENCY

DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY

AR DEFICIENCY

DHTR DEFICIENCY

AIS

TESTICULAR FEMINIZATION SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/300068
altLabel

TFM

ANDROGEN RECEPTOR DEFICIENCY

DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY

AR DEFICIENCY

DHTR DEFICIENCY

AIS

TESTICULAR FEMINIZATION SYNDROME
cui

C0039585
Gene Locus

Xq11-q12
Gene Symbol

SBMA

DHTR

TFM

SMAX1

HYSP1

AR

KD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006965

http://purl.bioontology.org/ontology/OMIM/MTHU008622

http://purl.bioontology.org/ontology/OMIM/MTHU008613

http://purl.bioontology.org/ontology/OMIM/MTHU008630

http://purl.bioontology.org/ontology/OMIM/MTHU008624

http://purl.bioontology.org/ontology/OMIM/MTHU067961

http://purl.bioontology.org/ontology/OMIM/MTHU008628

http://purl.bioontology.org/ontology/OMIM/MTHU008617

http://purl.bioontology.org/ontology/OMIM/MTHU008619

http://purl.bioontology.org/ontology/OMIM/MTHU008623

http://purl.bioontology.org/ontology/OMIM/MTHU008620

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU008615

http://purl.bioontology.org/ontology/OMIM/MTHU008621

http://purl.bioontology.org/ontology/OMIM/MTHU008629

http://purl.bioontology.org/ontology/OMIM/MTHU008631

http://purl.bioontology.org/ontology/OMIM/MTHU008614

http://purl.bioontology.org/ontology/OMIM/MTHU008627

http://purl.bioontology.org/ontology/OMIM/MTHU008632

http://purl.bioontology.org/ontology/OMIM/MTHU008625

http://purl.bioontology.org/ontology/OMIM/MTHU008616

http://purl.bioontology.org/ontology/OMIM/MTHU008626
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

300274
notation

300068
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ANDROGEN INSENSITIVITY SYNDROME
Scope Statement

Caused by mutation in the androgen receptor gene (AR, 313700.0001) [MOLECULAR BASIS]

Presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal) [MISCELLANEOUS]

Incidence 1/20,000-1/64,000 male births [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/NDFRT/N0000002913 NDFRT CUI
http://purl.bioontology.org/ontology/ICD9CM/259.51 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10056292 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X40Nn RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D013734 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.5 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.50 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/12313004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/12313004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10/E34.5 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10056292 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10056292 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013734 MESH CUI
http://purl.bioontology.org/ontology/ICD9CM/259.5 ICD9CM CUI
http://purl.bioontology.org/ontology/SNMI/D6-80300 SNMI CUI
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://www.phoc.org.cn/pmo/class/PMO_00037256 PMAPP-PMO 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://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