Preferred Name |
Saccharopinuria |
|
Synonyms |
Hyperlysinemia type II |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_3354 |
|
ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
altLabel |
Hyperlysinemia type II Deficit di saccaropina deidrogenasi Hyperlysinämie Typ II Saccharopine dehydrogenase deficiency Saccharopin-Dehydrogenase-Mangel Hyperlysinémie type II Hiperlisinemia tipo II Déficit de sacaropina deshidrogenasa Deficiencia de sacaropina deshidrogenasa Sacaropina desidrogenase, deficiência de Iperlisinemia, tipo II Deficiência de sacaropina desidrogenase Déficit en saccharopine déshydrogénase |
|
id_Medline |
neant |
|
id_MeSH |
C537218 |
|
id_MIM |
268700 |
|
id_OMS |
E72.3 |
|
id_Orpha |
3124 |
|
id_SNOMEDCT |
111397004 |
|
id_UMLS |
C0268556 C2936921 |
|
patType |
disease |
|
prefixIRI |
hrdo:pat_id_3354 |
|
prefLabel |
Saccharopinurie Sacaropinúria Saccharopinuria Saccaropinuria Sacaropinuria Saccharopinurie |
|
prevalence |
Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto |
|
subClassOf |