loading...| Preferred Name |
Glutaryl-CoA dehydrogenase deficiency |
|
| Synonyms |
GCDHD Acidurie glutarique type 1 Glutarazidurie Typ 1 |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_3564 |
|
| ageOfDeath |
Kind / Jugendlicher Bambino / Adolescente Criança / Adolescente Child / adolescent Child / adolescent Enfant / adolescent Niño / Adolescentes |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
GCDHD Acidurie glutarique type 1 Glutarazidurie Typ 1 GCDHD GA1 GA1 Deficit di glutaril-CoA deidrogenasi Glutaric acidemia type 1 Glutaric aciduria type 1 Déficit en glutaryl-Coenzyme A déshydrogénase Aciduria glutárica tipo 1 Acidémie glutarique type 1 Déficit de glutaril-CoA deshidrogenasa Aciduria glutarica, tipo 1 Glutaryl-Coenzyme A dehydrogenase deficiency Glutarazidämie Typ 1 Acidúria glutárica tipo 1 |
|
| id_Medline | ||
| id_MeSH |
C536833 |
|
| id_MIM |
231670 |
|
| id_OMS |
E72.3 |
|
| id_Orpha |
25 |
|
| id_SNOMEDCT |
360416003 76175005 |
|
| id_UMLS |
C0268595 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_3564 |
|
| prefLabel |
Déficit en glutaryl-CoA déshydrogénase Acidemia glutárica tipo 1 Glutaryl-CoA-Dehydrogenase-Mangel Deficiência de glutaril-CoA desidrogenase Glutaryl-CoA dehydrogenase deficiency Acidemia glutarica, tipo 1 |
|
| prevalence |
Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto |
|
| subClassOf |