ZFIN Human Disease: carbamoyl phosphate synthetase I deficiency disease

OBO ID: DOID:9280

Term Name:	carbamoyl phosphate synthetase I deficiency disease		Search Ontology:
Synonyms:	CPS I deficiency
Definition:	A urea cycle disorder that involves accumulation of ammonia in the blood. http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency
References:	GARD:7269 MESH:D020165 NCI:C84612 OMIM:237300 SNOMEDCT_US_2023_03_01:765329008 UMLS_CUI:C0751753
Ontology:	Human Disease ( DOID:9280 )

Relationships

is a type of:	autosomal recessive disease urea cycle disorder autosomal recessive disease urea cycle disorder Show first 5 Terms

OTHER carbamoyl phosphate synthetase I deficiency disease PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CPS1	cps1	Carbamoylphosphate synthetase I deficiency	237300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None