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hypercholanemia, familial 1

^ http://purl.obolibrary.org/obo/MONDO_0031446

A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. [ Orphanet:238475 ]

Term info

database cross reference
  • Orphanet:238475 (OMIM:607748)
  • OMIM:607748 (Orphanet:238475/e)
  • MESH:C564336 (MONDO:equivalentTo)
  • SCTID:723360007 (MONDO:equivalentTo)
  • UMLS:C1843139 (Orphanet:238475)
Subsets

ordo_disease

abbreviation
FHCA1 [ MONDO:Lexical OMIM:607748 ]

definition

A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_238475, https://omim.org/entry/607748, http://identifiers.org/snomedct/723360007, http://linkedlifedata.com/resource/umls/id/C1843139, http://identifiers.org/mesh/C564336

has broad synonym

hereditary hypercholanemia

id

MONDO:0031446

Term relations