Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618270 http://purl.bioontology.org/ontology/OMIM/618270
Preferred Name	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
Synonyms	CAKUT3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CAKUT3
prefLabel	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
Gene Symbol	RIP140 NRIP1 CAKUT3
Scope Statement	One family has been reported (last curated January 2019) [MISCELLANEOUS] Variable age at diagnosis (onset usually in childhood) [MISCELLANEOUS] Caused by mutation in the nuclear receptor-interacting protein 1 gene (NRIP1, 602490.0001) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS] Variable expressivity [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036549 http://purl.bioontology.org/ontology/OMIM/MTHU043051 http://purl.bioontology.org/ontology/OMIM/MTHU004590 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU062779 http://purl.bioontology.org/ontology/OMIM/MTHU002507 See more See less
tui	T019
Gene Locus	21q11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618270
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4748921
OMIM Entry Type	3
OMIM MimType Value	pound

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