loading...| Preferred Name |
Argininosuccinic Aciduria |
| Synonyms |
Asauria |
| Definitions |
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. |
| ID |
http://purl.bioontology.org/ontology/MESH/D056807 |
| altLabel |
Asauria Deficiency, Argininosuccinate Lyase Deficiencies, Arginino Succinase Acidemia, Argininosuccinate Aciduria, Argininosuccinic Argininosuccinicacidurias Inborn Error of Urea Synthesis, Arginino Succinic Type ASA Deficiencies Deficiencies, ASL Argininosuccinase Deficiency ASA Deficiency Deficiencies, Argininosuccinate Lyase Argininosuccinic Acidurias Arginosuccinase Deficiency ASL Deficiencies Argininosuccinate Acidemias Argininosuccinate Lyase Deficiencies Acidemias, Argininosuccinate Argininosuccinate Lyase Deficiency Arginino Succinase Deficiencies Deficiency, ASL ASL Deficiency Deficiency, ASA Deficiencies, ASA Argininosuccinate Acidemia Argininosuccinic Acid Lyase Deficiency Arginino Succinase Deficiency Argininosuccinicaciduria Argininosuccinyl-Coa Lyase Deficiency Acidurias, Argininosuccinic Urea Cycle Disorder, Arginino Succinase Type Argininosuccinic Acidemia Deficiency, Arginino Succinase |
| 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 |
C0268547 |
| DC |
1 |
| definition |
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. |
| DX |
20100101 |
| FX |
D001123 |
| HN |
2010 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D020159 http://purl.bioontology.org/ontology/MESH/D020165 |
| Machine permutation |
2010 |
| MDA |
20090706 |
| MMR |
20130708 |
| MN |
C10.228.140.163.100.937.124 C18.452.132.100.937.124 C16.320.565.189.937.124 C18.452.648.100.940.124 C16.320.565.100.940.124 C18.452.648.189.937.124 |
| notation |
D056807 |
| prefLabel |
Argininosuccinic Aciduria |
| TERMUI |
T734488 T734498 T734497 T840919 T734495 T734496 T840918 T812234 T840917 T734490 T734493 T734494 T840916 T734489 T734499 |
| TH |
NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |