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familial hypercholesterolemia

Go to external page http://purl.obolibrary.org/obo/DOID_13810

A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. [ url:http://en.wikipedia.org/wiki/Familial_hypercholesterolemia http://purl.obolibrary.org/obo/ECO_0007638 ]

Synonyms: Fredrickson type IIa hyperlipoproteinemia type II hyperlipidemia 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
  • GARD:10416
  • ICD10CM:E78.01
  • SNOMEDCT_US_2023_03_01:190772003
  • ORDO:406
  • MIM:143890
  • UMLS_CUI:C0020445
  • NCI:C34704
  • MESH:D006938
Subsets

DO_rare_slim, NCIthesaurus

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:13810

Term relations