WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111027 hemochromatosis type 2A Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.

1 Ontology

Name
Disease Ontology

8 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:896 metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
DOID:0111034 hemochromatosis type 2 A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.
DOID:0111027 hemochromatosis type 2A A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.
DOID:2352 hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0111034 DOID:0111027
is_a DOID:4 DOID:0111027
is_a DOID:0014667 DOID:0111027
is_a DOID:2352 DOID:0111027
is_a DOID:630 DOID:0111027
is_a DOID:896 DOID:0111027
is_a DOID:655 DOID:0111027

1 Synonyms

Name Type
HFE2A synonym