An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. [ NCIT : C34704 ]

Synonyms:

familial hypercholesteremia

Fredrickson type IIa lipidaemia

familial hypercholesterolemia

hyperlipoproteinemia type II

hyperbetalipoproteinemia

familial hyperbetalipoproteinaemia

Fredrickson type IIa hyperlipoproteinemia

Hyperlipoproteinemia Type II

familial hypercholesterolaemia

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C34704 (MONDO:equivalentTo)
  • MONDO:0005439
  • SCTID:190773008 (MONDO:equivalentTo)
  • MedDRA:10054380
  • UMLS:CN118841 (MONDO:equivalentTo)
  • OMIM:143890
  • OMIM:144010
  • ICD9:V19.8 (MONDO:relatedTo)
  • OMIM:603776
  • SNOMEDCT:398036000
  • OMIMPS:143890 (MONDO:equivalentTo)
  • MeSH:D006938
  • DOID:13810 (MONDO:equivalentTo)
comment
  • Editor note: TODO check xrefs
  • PMID:26076948
exactMatch
  • http://linkedlifedata.com/resource/umls/id/CN118841
  • http://identifiers.org/snomedct/190773008
  • https://omim.org/phenotypicSeries/PS143890
  • http://purl.obolibrary.org/obo/NCIT_C34704
  • http://purl.obolibrary.org/obo/DOID_13810
gwas trait
  • true
has related synonym
  • type II hyperlipidemia
id
  • EFO:0004911
term editor
  • Laura Huerta