Visualize Submit Comment
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

NCI:C84612

OMIM:237300

SNOMEDCT_US_2019_09_01:765329008

UMLS_CUI:C0751753

Subsets

NCIthesaurus

Synonyms

CPS I deficiency [EXACT]

Parent Relationships

is_a urea cycle disorder

is_a autosomal recessive disease

Add an item to the term tracker