Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ANDROGEN INSENSITIVITY, PARTIAL
Synonyms	ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER
ID	http://purl.bioontology.org/ontology/OMIM/312300
altLabel	ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1 REIFENSTEIN SYNDROME PAIS
cui	C2931847 C0268301
Gene Locus	Xq11-q12
Gene Symbol	SBMA DHTR HYSP1 KD SMAX1 AR TFM
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU006960 http://purl.bioontology.org/ontology/OMIM/MTHU006969 http://purl.bioontology.org/ontology/OMIM/MTHU006961 http://purl.bioontology.org/ontology/OMIM/MTHU006967 http://purl.bioontology.org/ontology/OMIM/MTHU028957 http://purl.bioontology.org/ontology/OMIM/MTHU006959 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU006963 http://purl.bioontology.org/ontology/OMIM/MTHU003772 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU006966 http://purl.bioontology.org/ontology/OMIM/MTHU006964 http://purl.bioontology.org/ontology/OMIM/MTHU006962
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	308370 307300 312100 306500
notation	312300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ANDROGEN INSENSITIVITY, PARTIAL
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C538435	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.52	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D013734	Medical Subject Headings	CUI