WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080957 primary hypoalphalipoproteinemia 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier 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:1387 hypolipoproteinemia A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.
DOID:0080957 primary hypoalphalipoproteinemia 1 A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:1387 DOID:0080957
is_a DOID:3146 DOID:0080957
is_a DOID:655 DOID:0080957
is_a DOID:630 DOID:0080957
is_a DOID:4 DOID:0080957
is_a DOID:0014667 DOID:0080957

2 Synonyms

Name Type
familial HDL deficiency synonym
familial hypoalphalipoproteinemia synonym