Online Mendelian Inheritance in Man - NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1
Synonyms	AD4BP
ID	http://purl.bioontology.org/ontology/OMIM/184757
altLabel	AD4BP ADRENAL 4 BINDING PROTEIN SPERMATOGENIC FAILURE 8 FTZF1 FUSHI TARAZU FACTOR, DROSOPHILA, HOMOLOG 1 ADRENAL INSUFFICIENCY, NR5A1-RELATED 46,XY SEX REVERSAL 3 STEROIDOGENIC FACTOR 1 46,XX SEX REVERSAL 4 FTZ1 SF1 PREMATURE OVARIAN FAILURE 7 NR5A1
cui	C3151406 C2751825 C1417838 C4479552 C3489793 C4479664
Gene Locus	9q33
Gene Symbol	AD4BP SPGF8 FTZF1 POF7 SF1 SRXY3 FTZ1 SRXX4 NR5A1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/184757.0015 http://purl.bioontology.org/ontology/OMIM/184757.0013 http://purl.bioontology.org/ontology/OMIM/184757.0006 http://purl.bioontology.org/ontology/OMIM/184757.0007 http://purl.bioontology.org/ontology/OMIM/184757.0019 http://purl.bioontology.org/ontology/OMIM/184757.0008 http://purl.bioontology.org/ontology/OMIM/184757.0010 http://purl.bioontology.org/ontology/OMIM/184757.0011 http://purl.bioontology.org/ontology/OMIM/184757.0004 http://purl.bioontology.org/ontology/OMIM/184757.0016 http://purl.bioontology.org/ontology/OMIM/184757.0012 http://purl.bioontology.org/ontology/OMIM/184757.0009 http://purl.bioontology.org/ontology/OMIM/184757.0003 http://purl.bioontology.org/ontology/OMIM/184757.0005 http://purl.bioontology.org/ontology/OMIM/184757.0017 http://purl.bioontology.org/ontology/OMIM/184757.0018 http://purl.bioontology.org/ontology/OMIM/184757.0002 http://purl.bioontology.org/ontology/OMIM/184757.0001 http://purl.bioontology.org/ontology/OMIM/184757.0014
MIMTYPEMEANING	Gene with known sequence
notation	184757
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1
tui	T028 T019 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D058490	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567838	Medical Subject Headings	CUI