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Metadata
DOID DOID:9280
Name carbamoyl phosphate synthetase I deficiency disease
Definition An amino acid metabolic disorder that involves accumulation of ammonia in the blood.
http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency
Xrefs

GARD:7269

MESH:D020165

NCI:C84612

OMIM:237300

UMLS_CUI:C0751753

Subsets

NCIthesaurus

Synonyms

CPS I deficiency [EXACT]

Relationships

is_a amino acid metabolic disorder

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