Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620374 http://purl.bioontology.org/ontology/OMIM/620374
Preferred Name	NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS
Synonyms	CAON2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CAON2
prefLabel	NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS
Gene Symbol	OXGR1 CAON2 GPR80
Scope Statement	Caused by mutation in the oxoglutarate receptor 1 gene (OXGR1, 606922.0001) [MOLECULAR BASIS] Renal function is usually preserved [MISCELLANEOUS] Variable age at onset (range childhood to adult) [MISCELLANEOUS] Stones are usually recurrent [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005829 http://purl.bioontology.org/ontology/OMIM/MTHU037859 http://purl.bioontology.org/ontology/OMIM/MTHU005377 http://purl.bioontology.org/ontology/OMIM/MTHU023248 http://purl.bioontology.org/ontology/OMIM/MTHU077202 http://purl.bioontology.org/ontology/OMIM/MTHU053502 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU077201 See more See less
tui	T047
Gene Locus	13q32.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620374
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5830516
OMIM Entry Type	3
OMIM MimType Value	pound

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