WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:13810 familial hypercholesterolemia 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.

1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:655 inherited metabolic disorder A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:3146 lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids.
DOID:13810 familial hypercholesterolemia A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
DOID:1168 familial hyperlipidemia  

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:13810 DOID:0090105
is_a DOID:1168 DOID:13810
is_a DOID:630 DOID:13810
is_a DOID:655 DOID:13810
is_a DOID:3146 DOID:13810
is_a DOID:4 DOID:13810
is_a DOID:0014667 DOID:13810

6 Synonyms

Name Type
familial hyperbetalipoproteinaemia synonym
familial hypercholesteremia synonym
Fredrickson type IIa hyperlipoproteinemia synonym
Fredrickson type IIa lipidaemia synonym
hyperbetalipoproteinemia synonym
type II hyperlipidemia synonym