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

http://www.limics.org/hrdo/rdfns#typ_id_11

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