JSON

polycystic liver disease 1

^ http://purl.obolibrary.org/obo/MONDO_0008265

A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. [ Orphanet:2924 ]

Term info

database cross reference
  • MedDRA:10010427 (Orphanet:2924/e)
  • MedDRA:10048834 (Orphanet:2924/e)
  • SCTID:716196007 (MONDO:equivalentTo)
  • UMLS:C4255088 (MONDO:equivalentObsolete)
  • OMIM:174050 (Orphanet:2924/e)
Subsets

ordo_malformation_syndrome

abbreviation
PCLD1 [ OMIM:174050 ]

abbreviation
ADPCLD [ Orphanet:2924 ]

abbreviation
PCLD [ Orphanet:2924 OMIM:174050 MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10010427, http://identifiers.org/meddra/10048834

definition

A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.

exactMatch

https://omim.org/entry/174050, http://identifiers.org/snomedct/716196007

has broad synonym

isolated congenital polycystic liver disease, isolated polycystic liver disease

has exact synonym

PCLD1, nonsyndromic polycystic liver disease (disease), polycystic liver disease 1 with or without kidney cysts, nonsyndromic congenital polycystic liver disease, polycystic liver disease 1

has related synonym

ADPCLD, autosomal dominant polycystic liver disease, polycystic liver disease, PCLD, isolated autosomal dominant polycystic liver disease

id

MONDO:0008265