Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620903 http://purl.bioontology.org/ontology/OMIM/620903
Preferred Name	POLYCYSTIC KIDNEY DISEASE 8
Synonyms	PKD8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PKD8
prefLabel	POLYCYSTIC KIDNEY DISEASE 8
Gene Symbol	JCK NPHP9 NEK8 RHPD2 PKD8
Scope Statement	Caused by mutation in the in the NIMA-related kinase 8 gene (NEK8, 609799.0012) [MOLECULAR BASIS] Variable age of onset (prenatal to 8th decade) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010080 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU000621 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU002578 http://purl.bioontology.org/ontology/OMIM/MTHU061547 http://purl.bioontology.org/ontology/OMIM/MTHU000145 See more See less
tui	T047
Gene Locus	17q11.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620903
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5935640
OMIM Entry Type	3
OMIM MimType Value	pound

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