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familial hypercholesterolemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0005439

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

Synonyms: Fredrickson type IIa hyperlipoproteinemia hyperlipoproteinemia type II familial hypercholesteremia hyperbetalipoproteinemia familial hyperbetalipoproteinaemia Fredrickson type IIa lipidaemia

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C34704 (MONDO:equivalentTo)
  • EFO:0004911 (MONDO:equivalentTo)
  • SCTID:190773008 (MONDO:equivalentTo)
  • UMLS:C0020445 (MONDO:notFoundInDiseaseSubset)
  • Orphanet:477811 (MONDO:relatedTo)
  • OMIMPS:143890 (MONDO:equivalentTo)
  • DOID:13810 (MONDO:equivalentTo)
  • ICD9:V19.8 (MONDO:relatedTo)
Subsets

rare, inferred_rare

comment

Editor note: TODO check xrefs

exactMatch

http://purl.obolibrary.org/obo/NCIT_C34704

https://omim.org/phenotypicSeries/PS143890

http://purl.obolibrary.org/obo/DOID_13810

http://linkedlifedata.com/resource/umls/id/C0020445

http://identifiers.org/snomedct/190773008

has related synonym

type II hyperlipidemia

id

MONDO:0005439