loading...| Preferred Name |
Hurler-Scheie syndrome |
|
| Synonyms |
Hurler-Scheie-Variante Mukopolysaccharidose Typ 1H/S Mucopolisacaridosis tipo 1H/S MPS1H/S |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_12383 |
|
| ageOfDeath |
Adultos jóvenes Young adult Adulte jeune Giovani adulti Young adult Jovem adulto Junge Erwachsene |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
Hurler-Scheie-Variante Mukopolysaccharidose Typ 1H/S Mucopolisacaridosis tipo 1H/S MPS1H/S MPS1H/S MPS1H/S MPS1H/S Mucopolysaccharidosis type 1H/S Mucopolysaccharidose de type 1H/S MPS1H/S Mucopolisaccaridosi, tipo 1H/S |
|
| id_Medline |
neant |
|
| id_MIM |
607015 |
|
| id_OMS |
E76.0 |
|
| id_Orpha |
93476 |
|
| id_SNOMEDCT |
26745009 |
|
| id_UMLS |
C0086431 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
| patType |
clinical subtype |
|
| prefixIRI |
hrdo:pat_id_12383 |
|
| prefLabel |
Hurler-Scheie-Syndrom Sindrome di Hurler-Scheie Síndrome de Hurler-Scheie Syndrome de Hurler-Scheie Hurler-Scheie syndrome Síndrome de Hurler-Scheie |
|
| 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 |