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

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	ANDROGEN INSENSITIVITY SYNDROME
Synonyms	TESTICULAR FEMINIZATION SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/300068
altLabel	TESTICULAR FEMINIZATION SYNDROME ANDROGEN RECEPTOR DEFICIENCY DHTR DEFICIENCY DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY AIS AR DEFICIENCY TFM
cui	C0039585
Gene Locus	Xq11-q12
Gene Symbol	SBMA DHTR HYSP1 KD SMAX1 AR TFM
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008632 http://purl.bioontology.org/ontology/OMIM/MTHU008630 http://purl.bioontology.org/ontology/OMIM/MTHU008615 http://purl.bioontology.org/ontology/OMIM/MTHU008618 http://purl.bioontology.org/ontology/OMIM/MTHU008621 http://purl.bioontology.org/ontology/OMIM/MTHU008625 http://purl.bioontology.org/ontology/OMIM/MTHU008613 http://purl.bioontology.org/ontology/OMIM/MTHU008628 http://purl.bioontology.org/ontology/OMIM/MTHU028730 http://purl.bioontology.org/ontology/OMIM/MTHU008635 http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU008623 http://purl.bioontology.org/ontology/OMIM/MTHU008631 http://purl.bioontology.org/ontology/OMIM/MTHU008617 http://purl.bioontology.org/ontology/OMIM/MTHU008624 http://purl.bioontology.org/ontology/OMIM/MTHU008629 http://purl.bioontology.org/ontology/OMIM/MTHU008627 http://purl.bioontology.org/ontology/OMIM/MTHU008616 http://purl.bioontology.org/ontology/OMIM/MTHU008614 http://purl.bioontology.org/ontology/OMIM/MTHU008619 http://purl.bioontology.org/ontology/OMIM/MTHU008626 http://purl.bioontology.org/ontology/OMIM/MTHU008634 http://purl.bioontology.org/ontology/OMIM/MTHU008622 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU008620
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	300274
notation	300068
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ANDROGEN INSENSITIVITY SYNDROME
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_4674	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/ICD10CM/E34.5	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	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/ICD10/E34.5	International Classification of Diseases, Version 10	CUI
	http://purl.bioontology.org/ontology/ICD10CM/E34.50	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/MESH/D013734	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D013734	Medical Subject Headings	LOOM
	http://purl.bmicc.cn/ontology/ICD10CN/E34.5	International Classification of Diseases, 10th Edition, China	CUI