Polycystic liver disease 4 with or without kidney cysts

Preferred Label : Polycystic liver disease 4 with or without kidney cysts;

Symbol : PCLD4;

CISMeF acronym : PCLD4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0035);

Prefixed ID : #617875;

Détails

Origin ID

617875;

UMLS CUI

C4693479;

Genes related to phenotype
- Low density lipoprotein receptor-related protein 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hepatic cysts [HPO term]
- Incomplete penetrance [HPO term]
- Renal cyst [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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