Online Mendelian Inheritance in Man - ARGININE VASOPRESSIN RECEPTOR 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	ARGININE VASOPRESSIN RECEPTOR 2
Synonyms	ADHR V2R VASOPRESSIN V2 RECEPTOR DIABETES INSIPIDUS, NEPHROGENIC, 1, X-LINKED AVPR2 ANTIDIURETIC HORMONE RECEPTOR NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
ID	http://purl.bioontology.org/ontology/OMIM/300538
altLabel	ADHR V2R VASOPRESSIN V2 RECEPTOR DIABETES INSIPIDUS, NEPHROGENIC, 1, X-LINKED AVPR2 ANTIDIURETIC HORMONE RECEPTOR NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
cui	C1332124 C1563705 C1845202
Gene Locus	Xq28
Gene Symbol	NDI1 AVPR2 ADHR DIR DI1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300538.0020 http://purl.bioontology.org/ontology/OMIM/300538.0022 http://purl.bioontology.org/ontology/OMIM/300538.0021 http://purl.bioontology.org/ontology/OMIM/300538.0011 http://purl.bioontology.org/ontology/OMIM/300538.0010 http://purl.bioontology.org/ontology/OMIM/300538.0018 http://purl.bioontology.org/ontology/OMIM/300538.0014 http://purl.bioontology.org/ontology/OMIM/300538.0013 http://purl.bioontology.org/ontology/OMIM/300538.0012 http://purl.bioontology.org/ontology/OMIM/300538.0015 http://purl.bioontology.org/ontology/OMIM/300538.0017 http://purl.bioontology.org/ontology/OMIM/300538.0019 http://purl.bioontology.org/ontology/OMIM/300538.0016 http://purl.bioontology.org/ontology/OMIM/300538.0001 http://purl.bioontology.org/ontology/OMIM/300538.0006 http://purl.bioontology.org/ontology/OMIM/300538.0002 http://purl.bioontology.org/ontology/OMIM/300538.0003 http://purl.bioontology.org/ontology/OMIM/300538.0004 http://purl.bioontology.org/ontology/OMIM/300538.0008 http://purl.bioontology.org/ontology/OMIM/300538.0007 http://purl.bioontology.org/ontology/OMIM/300538.0009 http://purl.bioontology.org/ontology/OMIM/300538.0005
MIMTYPEMEANING	Gene with known sequence
notation	300538
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ARGININE VASOPRESSIN RECEPTOR 2
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D018500	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/723440000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D018500	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/723440000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C564491	MESH	CUI
http://www.orpha.net/ORDO/Orphanet_118947	ORDO	LOOM