loading...| Preferred Name |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
|
| Synonyms |
CPS I Deficiency |
|
| Definitions |
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020165 |
|
| altLabel |
CPS I Deficiency Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamyl Phosphate Synthetase 1 Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease - Carbamoyl-Phosphate Synthase 1 Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To Carbamyl Phosphate Synthetase I Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency CPS 1 Deficiency Carbamoyl-Phosphate Synthetase I Deficiency Disease Carbamyl-Phosphate Synthetase 1 Deficiency Disease Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Carbamoylphosphate Synthetase I Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease Carbamyl Phosphate Synthetase Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl Phosphate Synthase 1 Deficiency Disease Carbamyl Phosphate Synthetase (CPS) Deficiency CPS 1 Deficiencies Carbamyl-Phosphate Synthetase I Deficiency Disease CPS I Deficiencies Carbamoyl Phosphate Synthetase I Deficiency |
|
| AN |
consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0751753 C4082171 C4085580 |
|
| DC |
1 |
|
| definition |
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1) |
|
| DX |
20000101 |
|
| FX |
D002222 |
|
| HN |
2000 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2000 |
|
| MDA |
19991105 |
|
| MMR |
20160226 |
|
| MN |
C18.452.660.097 C16.320.565.189.937.249 C18.452.648.189.937.249 C16.320.565.100.940.249 C10.228.140.163.100.937.249 C18.452.648.100.940.249 C18.452.132.100.937.249 |
|
| notation |
D020165 |
|
| prefLabel |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
|
| TERMUI |
T366527 T358185 T366525 T000892581 T734575 T734574 T812448 T000894601 T366526 T734576 T366523 T824974 T000894600 T734474 T000894599 T000894598 T812447 T366524 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2010) GHR (2014) NLM (2017) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |