Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/600666 http://purl.bioontology.org/ontology/OMIM/600666
Preferred Name	POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Synonyms	PKD3 POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III APKD3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PKD3 POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III APKD3
prefLabel	POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Gene Symbol	PKD3 GANAB
notation	600666
Scope Statement	Onset usually in mid- to late-adulthood [MISCELLANEOUS] Highly variable severity [MISCELLANEOUS] Renal disease is typically mild [MISCELLANEOUS] Caused by mutation in the glucosidase, alpha, neutral AB gene (GANAB, 104160.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU032649 http://purl.bioontology.org/ontology/OMIM/MTHU054151 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU013529 http://purl.bioontology.org/ontology/OMIM/MTHU002507 http://purl.bioontology.org/ontology/OMIM/MTHU016180 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	11q13-qter
tui	T047
cui	C3887964

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