Human genes for carbamoyl phosphate synthetase I deficiency disease
Carbamoyl phosphate synthetase I deficiency disease [DOID:9280]
A urea cycle disorder that involves accumulation of ammonia in the blood.
Synonyms: carbamoyl phosphate synthetase I deficiency disease, carbamoyl phosphate synthetase I deficiency disorder, carbamoyl phosphate synthetase I deficiency syndrome, carbamoyl phosphate synthetase I deficiency diseases, DOID:9280 ...
Linkouts: OMIM