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DO Term : familial hypercholesterolemia [DOID:13810] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

synonyms:
familial hyperbetalipoproteinaemia,
143890,
UMLS_CUI:C0020445,
MESH:D006938,
NCI:C34704,
type II hyperlipidemia,
Fredrickson type IIa lipidaemia,
ORDO:406,
GARD:10416,
ICD10CM:E78.01,
familial hypercholesteremia,
Fredrickson type IIa hyperlipoproteinemia,
hyperbetalipoproteinemia,
SNOMEDCT_US_2023_03_01:190772003,
OMIM:143890

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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