WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:9267 urea cycle disorder Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

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:9267 urea cycle disorder An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

13 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:9267 DOID:0070340
is_a DOID:9267 DOID:0070341
is_a DOID:9267 DOID:0070342
is_a DOID:9267 DOID:0112258
is_a DOID:9252 DOID:9267
is_a DOID:655 DOID:9267
is_a DOID:0014667 DOID:9267
is_a DOID:4 DOID:9267
is_a DOID:630 DOID:9267
is_a DOID:9267 DOID:9271
is_a DOID:9267 DOID:9273
is_a DOID:9267 DOID:9278
is_a DOID:9267 DOID:9280

3 Synonyms

Name Type
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia synonym
disorder of urea cycle metabolism synonym
urea cycle defect synonym