polycystic liver disease 1

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 ]

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

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C4255088 (MONDO:equivalentObsolete)
MedDRA:10010427 (Orphanet:2924/e)
SCTID:716196007 (MONDO:equivalentTo)
MedDRA:10048834 (Orphanet:2924/e)
OMIM:174050 (Orphanet:2924/e)

Subsets

rare, ordo_malformation_syndrome, nord_rare, clingen

closeMatch

http://identifiers.org/meddra/10010427

http://identifiers.org/meddra/10048834

exactMatch

http://identifiers.org/snomedct/716196007

https://omim.org/entry/174050

has broad synonym

isolated congenital polycystic liver disease

isolated polycystic liver disease

has related synonym

ADPCLD

autosomal dominant polycystic liver disease

polycystic liver disease

PCLD

isolated autosomal dominant polycystic liver disease

MONDO:0008265

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008265

Term relations

Subclass of:

autosomal dominant polycystic liver disease