loading...| Preferred Name |
Citrullinemia |
|
| Synonyms |
Citrullinemia, Late-Onset |
|
| Definitions |
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020159 |
|
| altLabel |
Citrullinemia, Late-Onset Late-Onset Citrullinemia Neonatal Citrullinemias Deficiency, Argininosuccinate Synthetase Classical Citrullinemias Type I Citrullinemias Argininosuccinate Synthase Deficiency Disease Type I Citrullinemia Argininosuccinic Acid Synthase Deficiency Disease Citrullinemia, Type I Citrullinemia Type 1 Deficiency Disease, Argininosuccinic Acid Synthase Deficiency Disease, Argininosuccinate Synthase Citrullinurias ASS Deficiency Complete Argininosuccinic Acid Synthetase Deficiency Disease Argininosuccinic Acid Synthetase Deficiency Deficiency, ASS ASS Deficiencies Classical Citrullinemia Citrullinemia, Late Onset Classic Citrullinemias Classic Citrullinemia Citrullinemia 1 Citrullinemia, Neonatal Citrullinemia, Classical Neonatal Citrullinemia Citrullinemias Argininosuccinate Synthetase Deficiency Argininosuccinate Synthetase Deficiencies Deficiency, Argininosuccinic Acid Synthetase, Partial Citrullinemia, Classic Deficiency, Argininosuccinic Acid Synthetase, Complete Deficiencies, Argininosuccinate Synthetase Citrullinemias, Classic Citrullinuria Late-Onset Citrullinemias Argininosuccinic Acid Synthetase Deficiency Disease Partial Argininosuccinic Acid Synthetase Deficiency Disease Argininosuccinic Acid Synthetase Deficiency Disease, Partial Argininosuccinic Acid Synthetase Deficiency, Complete |
|
| 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 |
C4721769 C0751751 C0751750 C0175683 |
|
| DC |
1 |
|
| definition |
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) |
|
| DX |
20000101 |
|
| FX |
D001124 |
|
| 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 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C536398 |
|
| MDA |
19991103 |
|
| MMR |
20200527 |
|
| MN |
C18.452.132.100.937.374 C10.228.140.163.100.937.374 C16.320.565.189.937.374 C18.452.648.189.937.374 C18.452.648.100.940.374 C16.320.565.100.940.374 |
|
| notation |
D020159 |
|
| prefLabel |
Citrullinemia |
|
| TERMUI |
T367164 T367173 T367163 T367166 T367170 T734480 T734476 T367161 T367174 T734479 T734477 T367162 T367171 T367165 T367175 T367168 T367169 T358360 T734475 T812068 T734478 T367167 T367172 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |