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DO Term : urea cycle disorder [DOID:9267] 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.

synonyms:
urea cycle defect,
ICD9CM:270.6,
MESH:D056806,
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia,
GARD:7837,
UMLS_CUI:C0154246,
disorder of urea cycle metabolism,
ICD10CM:E72.2,
SNOMEDCT_US_2023_03_01:36444000,
NCI:C84785

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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