CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/237300

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY

CPS I DEFICIENCY

C0751753

C4082171

2q35

CPS1

PHN

http://purl.bioontology.org/ontology/OMIM/MTHU007048

http://purl.bioontology.org/ontology/OMIM/MTHU007050

http://purl.bioontology.org/ontology/OMIM/MTHU012326

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU007049

http://purl.bioontology.org/ontology/OMIM/MTHU037253

http://purl.bioontology.org/ontology/OMIM/MTHU007059

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU009877

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU012327

http://purl.bioontology.org/ontology/OMIM/MTHU012325

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU000242

Phenotype description, molecular basis known.

237300

3

pound

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO

Prevalence of 1 in 200,000 to 1 in 800,000 [MISCELLANEOUS]

Two types - lethal neonatal and less severe, late onset [MISCELLANEOUS]

Caused by mutation in the carbamoylphosphate synthetase I gene (CPS1, 608307.0001) [MOLECULAR BASIS]

T047