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
(all 6)
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
(all 8)
Ontology
Human Disease   ( DOID:13810 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.