Carbamoyl phosphate synthetase I

Preferred Label : Carbamoyl phosphate synthetase I;

Symbol : CPS1;

CISMeF acronym : CPS1;

Type : Gene;

Ensembl ID : ENSG00000021826;

Prefixed ID : *608307;

Details

Origin ID

608307;

UMLS CUI

C1413683;

Automatic exact mappings (from CISMeF team)
- CPS1 gene [LOINC component]
- CYP21A2 wt Allele [NCIt concept]
- Carbamoyl-Phosphate Synthase [Ammonia], Mitochondrial [NCIt concept]
- carbamoyl-phosphate synthase (ammonia) [MeSH Descriptor]
- carbamoyl-phosphate synthase 1 [HGNC gene]
- carbamoyl-phosphate synthase 1 [ORDO Gene]
- cytochrome P450 family 21 subfamily A member 2 [ORDO Gene]
- cytochrome P450 family 21 subfamily A member 2 [HGNC gene]
HGNC gene
- carbamoyl-phosphate synthase 1 [HGNC gene]
Phenotypes related
- Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to [OMIM Phenotype]
- Pulmonary hypertension, neonatal, susceptibility to [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CPS1 Gene [NCIt concept]
- CPS1 gene [LOINC component]
- carbamoyl-phosphate synthase 1 [HGNC gene]

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