JSON

hyperlipidemia, combined, 1

^ http://purl.obolibrary.org/obo/MONDO_0011237

An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene. [ MONDO:patterns/inherited_susceptibility MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • UMLS:C1865289 (OMIM:602491)
  • OMIM:602491 (MONDO:equivalentTo)
  • MESH:C566535 (MONDO:equivalentTo)
IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4882, https://github.com/monarch-initiative/mondo/issues/4521

definition

An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1865289, https://omim.org/entry/602491, http://identifiers.org/mesh/C566535

has exact synonym

hyperlipidemia, combined, 1, USF1 familial combined hyperlipidemia, hyperlipidemia, familial combined, susceptibility to, familial combined hyperlipidemia caused by mutation in USF1, hyperlipidemia, combined, type 1

has related synonym

hyplip1, hyperlipidemia, familial combined, 1

id

MONDO:0011237