Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	ANDROGEN RECEPTOR
Synonyms	AR PROSTATE CANCER, SOMATIC ANDROGEN INSENSITIVITY, PARTIAL ANDROGEN INSENSITIVITY, COMPLETE DIHYDROTESTOSTERONE RECEPTOR NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 4 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER ANDROGEN INSENSITIVITY SYNDROME DHTR PROSTATE CANCER SUSCEPTIBILITY HYPOSPADIAS 1, X-LINKED ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER NR3C4
ID	http://purl.bioontology.org/ontology/OMIM/313700
altLabel	AR PROSTATE CANCER, SOMATIC ANDROGEN INSENSITIVITY, PARTIAL ANDROGEN INSENSITIVITY, COMPLETE DIHYDROTESTOSTERONE RECEPTOR NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 4 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER ANDROGEN INSENSITIVITY SYNDROME DHTR PROSTATE CANCER SUSCEPTIBILITY HYPOSPADIAS 1, X-LINKED ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER NR3C4
cui	C0039585 C4015779 C4016581 C1367578 C0268301 C0936016 C3469524 C2678098 C1839259
Gene Locus	Xq11-q12
Gene Symbol	SBMA DHTR TFM SMAX1 HYSP1 AR KD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/313700.0049 http://purl.bioontology.org/ontology/OMIM/313700.0040 http://purl.bioontology.org/ontology/OMIM/313700.0042 http://purl.bioontology.org/ontology/OMIM/313700.0044 http://purl.bioontology.org/ontology/OMIM/313700.0043 http://purl.bioontology.org/ontology/OMIM/313700.0047 http://purl.bioontology.org/ontology/OMIM/313700.0046 http://purl.bioontology.org/ontology/OMIM/313700.0041 http://purl.bioontology.org/ontology/OMIM/313700.0045 http://purl.bioontology.org/ontology/OMIM/313700.0048 http://purl.bioontology.org/ontology/OMIM/313700.0033 http://purl.bioontology.org/ontology/OMIM/313700.0032 http://purl.bioontology.org/ontology/OMIM/313700.0031 http://purl.bioontology.org/ontology/OMIM/313700.0034 http://purl.bioontology.org/ontology/OMIM/313700.0030 http://purl.bioontology.org/ontology/OMIM/313700.0037 http://purl.bioontology.org/ontology/OMIM/313700.0036 http://purl.bioontology.org/ontology/OMIM/313700.0035 http://purl.bioontology.org/ontology/OMIM/313700.0039 http://purl.bioontology.org/ontology/OMIM/313700.0038 http://purl.bioontology.org/ontology/OMIM/313700.0029 http://purl.bioontology.org/ontology/OMIM/313700.0023 http://purl.bioontology.org/ontology/OMIM/313700.0027 http://purl.bioontology.org/ontology/OMIM/313700.0026 http://purl.bioontology.org/ontology/OMIM/313700.0022 http://purl.bioontology.org/ontology/OMIM/313700.0028 http://purl.bioontology.org/ontology/OMIM/313700.0020 http://purl.bioontology.org/ontology/OMIM/313700.0021 http://purl.bioontology.org/ontology/OMIM/313700.0024 http://purl.bioontology.org/ontology/OMIM/313700.0025 http://purl.bioontology.org/ontology/OMIM/313700.0060 http://purl.bioontology.org/ontology/OMIM/313700.0054 http://purl.bioontology.org/ontology/OMIM/313700.0055 http://purl.bioontology.org/ontology/OMIM/313700.0059 http://purl.bioontology.org/ontology/OMIM/313700.0056 http://purl.bioontology.org/ontology/OMIM/313700.0050 http://purl.bioontology.org/ontology/OMIM/313700.0058 http://purl.bioontology.org/ontology/OMIM/313700.0051 http://purl.bioontology.org/ontology/OMIM/313700.0053 http://purl.bioontology.org/ontology/OMIM/313700.0057 http://purl.bioontology.org/ontology/OMIM/313700.0052 http://purl.bioontology.org/ontology/OMIM/313700.0017 http://purl.bioontology.org/ontology/OMIM/313700.0018 http://purl.bioontology.org/ontology/OMIM/313700.0010 http://purl.bioontology.org/ontology/OMIM/313700.0019 http://purl.bioontology.org/ontology/OMIM/313700.0016 http://purl.bioontology.org/ontology/OMIM/313700.0013 http://purl.bioontology.org/ontology/OMIM/313700.0011 http://purl.bioontology.org/ontology/OMIM/313700.0012 http://purl.bioontology.org/ontology/OMIM/313700.0014 http://purl.bioontology.org/ontology/OMIM/313700.0015 http://purl.bioontology.org/ontology/OMIM/313700.0004 http://purl.bioontology.org/ontology/OMIM/313700.0008 http://purl.bioontology.org/ontology/OMIM/313700.0005 http://purl.bioontology.org/ontology/OMIM/313700.0002 http://purl.bioontology.org/ontology/OMIM/313700.0001 http://purl.bioontology.org/ontology/OMIM/313700.0009 http://purl.bioontology.org/ontology/OMIM/313700.0003 http://purl.bioontology.org/ontology/OMIM/313700.0006 http://purl.bioontology.org/ontology/OMIM/313700.0007
MIMTYPEMEANING	Gene with known sequence
notation	313700
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ANDROGEN RECEPTOR
tui	T047 T033 T191 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP33180-8	LOINC	CUI
http://purl.bioontology.org/ontology/MDRFRE/10038289	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10043319	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/C567482	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10068600	MDRGER	CUI
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://purl.bioontology.org/ontology/PDQ/CDR0000043580	PDQ	CUI
http://purl.bioontology.org/ontology/ICD9CM/259.52	ICD9CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/122811000119101	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D013734	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.52	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRGER/10038289	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/X40Nq	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/122811000119101	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-80420	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10038289	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/D013734	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/368851000119102	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/C17y0	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10043319	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/368851000119102	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D013734	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.51	ICD10CM	CUI
http://purl.bioontology.org/ontology/CSP/2586-8897	CRISP	CUI
http://purl.bioontology.org/ontology/SCTSPA/52832001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10054657	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10054657	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10043319	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10054657	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X40Ne	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D6-80410	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D013734	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10023331	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D055534	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D055534	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10068600	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230253001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10023331	MDRFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181249	NDFRT	CUI
http://purl.bioontology.org/ontology/SCTSPA/230253001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10023331	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10068600	MDRFRE	CUI
http://purl.obolibrary.org/obo/NCIT_C17063	BERO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0034786	OCHV	LOOM
http://www.orpha.net/ORDO/Orphanet_132285	ORDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10598	OCHV	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000043580	PDQ	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/65407002	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/dinto_2839	DINTO	LOOM
http://purl.uniprot.org/uniprot/P10275	FTC	LOOM
http://www.drugtargetontology.org/dto/DTO_00117516	DTO	LOOM
http://purl.obolibrary.org/obo/PR_000004191	PR	LOOM
http://purl.obolibrary.org/obo/PR_000004191	INBANCIDO	LOOM
http://purl.obolibrary.org/obo/PR_000004191	CIDO	LOOM
http://purl.obolibrary.org/obo/PR_000004191	NIFSTD	LOOM
http://purl.obolibrary.org/obo/PR_000004191	GO-PLUS	LOOM
http://www.semanticweb.org/ontologies/2018/1/ProstateCancer.owl#Androgen_receptor	PCAO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16667	HRDO	LOOM
http://purl.bioontology.org/ontology/CSP/2573-2420	CRISP	LOOM
http://purl.jp/bio/4/id/200906053972206493	IOBC	LOOM
http://purl.bioontology.org/ontology/LNC/LP68364-6	LOINC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17063	NCIT	LOOM