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Metadata
ID DOID:9280
Name carbamoyl phosphate synthetase I deficiency disease
Definition A urea cycle 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

MIM:237300

NCI:C84612

SNOMEDCT_US_2023_03_01:765329008

UMLS_CUI:C0751753

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

CPS I deficiency [EXACT]

Parent Relationships

is_a urea cycle disorder

is_a autosomal recessive disease

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