National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Androgen Insensitivity Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27226
code	C27226
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
DEFINITION	A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics.
FULL_SYN	Androgen Resistance Syndrome Testicular Feminization Syndrome
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
label	Androgen Insensitivity Syndrome
Legacy_Concept_Name	Testicular_Feminization_Syndrome
NICHD_Hierarchy_Term	Androgen Resistance Syndrome
Preferred_Name	Androgen Insensitivity Syndrome
prefixIRI	C27226
prefLabel	Androgen Insensitivity Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0039585
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26773

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/300068	Online Mendelian Inheritance in Man	LOOM
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	LOOM
http://purl.bioontology.org/ontology/MESH/D013734	Medical Subject Headings	LOOM