carbamoyl phosphate synthetase I deficiency disease
(Q5037834)
amino acid metabolic disorder that involves accumulation of ammonia in the blood
amino acid metabolic disorder that involves accumulation of ammonia in the blood
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Current Data About
carbamoyl phosphate synthetase I deficiency disease
other details
| aliases |
CPS I deficiency CPS1 deficiency Deficiency Disease Carbamoyl-phosphate synthetase I deficiency Carbamoyl-phosphate synthetase deficiency CPS1D Carbamoyl-phosphate synthetase 1 deficiency CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO Carbamoyl Phosphate Synthetase Deficiency Carbamoyl Phosphate Synthetase 1 Deficiency Cps 1 Deficiency Carbamoyl-Phosphate Synthase |
| description | amino acid metabolic disorder that involves accumulation of ammonia in the blood |
External Links
| (P486) |
D020165
|
| (P492) |
237300
|
| (P493) |
270.6
|
| (P665) |
H00164
|
| (P672) |
C10.228.140.163.100.937.249
C16.320.565.100.940.249 C16.320.565.189.937.249 C18.452.132.100.937.249 C18.452.648.100.940.249 C18.452.648.189.937.249 C18.452.660.097 |
| (P699) |
DOID:9280
|
| (P1550) |
147
|
| (P2892) |
C0751753
|
| (P4229) |
E72.2
|
| (P4317) |
7269
|
| (P5270) |
MONDO_0009376
|
| (P6366) |
2779142407
|
| (P7464) |
carbamoyl-phosphate-synthetase-i-deficiency
|
| (P11143) |
Carbamoyl phosphate synthetase I deficiency
|
| (P11430) |
DI-00209
|
| (P11956) |
0007193
|