Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/173900 http://purl.bioontology.org/ontology/OMIM/173900
Preferred Name	POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Synonyms	ADPKD POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, FORMERLY POLYCYSTIC KIDNEY DISEASE, ADULT POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I PKD1 APKD1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ADPKD POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, FORMERLY POLYCYSTIC KIDNEY DISEASE, ADULT POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I PKD1 APKD1 See more See less
prefLabel	POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Gene Symbol	PKD1
Scope Statement	Caused by mutation in the polycystin 1 gene (PKD1, 601313.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009628 http://purl.bioontology.org/ontology/OMIM/MTHU010080 http://purl.bioontology.org/ontology/OMIM/MTHU016178 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU016179 http://purl.bioontology.org/ontology/OMIM/MTHU016180 See more See less
tui	T047
Gene Locus	16p13.3-p13.12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	173900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3149841 C0085413
OMIM Entry Type	3
OMIM MimType Value	pound

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