Polycystic liver disease 3 with or without kidney cysts

Preferred Label : Polycystic liver disease 3 with or without kidney cysts;

Symbol : PCLD3;

CISMeF acronym : PCLD3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the S. Cerevisiae ALG8 gene (ALG8, 608103.0007);

Prefixed ID : #617874;

Détails

Origin ID

617874;

UMLS CUI

C4693472;

Genes related to phenotype
- Alg8 alpha-1,3-glucosyltransferase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hepatic cysts [HPO term]
- Renal cyst [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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