Search Ontology:
Human Disease

familial hypercholesterolemia

Term ID
DOID:13810
Synonyms
  • familial hyperbetalipoproteinaemia
  • familial hypercholesteremia
  • Fredrickson type IIa hyperlipoproteinemia
  • Fredrickson type IIa lipidaemia
  • hyperbetalipoproteinemia
  • type II hyperlipidemia
Definition
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. http://en.wikipedia.org/wiki/Familial_hypercholesterolemia
References
  • GARD:10416
  • ICD10CM:E78.01
  • MESH:D006938
  • MIM:143890
  • NCI:C34704
  • ORDO:406
  • SNOMEDCT_US_2023_03_01:190772003
  • UMLS_CUI:C0020445
Ontology
Human Disease   ( DOID:13810 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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