WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050573 2-hydroxyglutaric aciduria Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.

1 Ontology

Name
Disease Ontology

6 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:9252 amino acid metabolic disorder An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
DOID:0050573 2-hydroxyglutaric aciduria An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:9252 DOID:0050573
is_a DOID:0014667 DOID:0050573
is_a DOID:630 DOID:0050573
is_a DOID:4 DOID:0050573
is_a DOID:655 DOID:0050573
is_a DOID:0050573 DOID:0050574
is_a DOID:0050573 DOID:0050575
is_a DOID:0050573 DOID:0111351
is_a DOID:0050573 DOID:0111352
is_a DOID:0050573 DOID:0111619

0 Synonyms