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renal-hepatic-pancreatic dysplasia 1

^ http://purl.obolibrary.org/obo/MONDO_0008833

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:208540 (MONDO:equivalentTo)
  • UMLS:C3715199 (MONDO:equivalentTo)
abbreviation
RHPD1 [ MONDO:Lexical OMIM:208540 ]

definition

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.

exactMatch

https://omim.org/entry/208540, http://linkedlifedata.com/resource/umls/id/C3715199

has exact synonym

renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3, renal-hepatic-pancreatic dysplasia 1, NPHP3 renal-hepatic-pancreatic dysplasia, renal-hepatic-pancreatic dysplasia type 1

has related synonym

RHPD1, Rhpd

id

MONDO:0008833

Term relations