Online Mendelian Inheritance in Man - ANDROGEN INSENSITIVITY SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300068 http://purl.bioontology.org/ontology/OMIM/300068
Preferred Name	ANDROGEN INSENSITIVITY SYNDROME
Synonyms	TFM ANDROGEN RECEPTOR DEFICIENCY DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY AR DEFICIENCY DHTR DEFICIENCY AIS TESTICULAR FEMINIZATION SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	TFM ANDROGEN RECEPTOR DEFICIENCY DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY AR DEFICIENCY DHTR DEFICIENCY AIS TESTICULAR FEMINIZATION SYNDROME See more See less
prefLabel	ANDROGEN INSENSITIVITY SYNDROME
Gene Symbol	SBMA DHTR TFM SMAX1 HYSP1 AR KD See more See less
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]
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
tui	T047
Gene Locus	Xq11-q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300068
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C0039585
Moved from	300274
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display