Preferred Name |
Hurler syndrome |
|
Synonyms |
Mucopolisaccaridosi, tipo 1H MPS1H Mucopolysaccharidosis type 1H |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_12381 |
|
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 |
Mucopolisaccaridosi, tipo 1H MPS1H Mucopolysaccharidosis type 1H Mucopolisacaridosis tipo 1H Mucopolysaccharidose de type 1H MPS1H MPS1H MPS1H Hurler-Krankheit |
|
id_Medline |
neant |
|
id_MIM |
607014 |
|
id_OMS |
E76.0 |
|
id_Orpha |
93473 |
|
inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
patType |
clinical subtype |
|
prefixIRI |
hrdo:pat_id_12381 |
|
prefLabel |
Hurler syndrome Síndrome de Hurler Síndrome de Hurler Syndrome de Hurler Sindrome di Hurler Hurler-Syndrom |
|
prevalence |
1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 |
|
subClassOf |