loading...| Preferred Name |
Hurler-Scheie syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_93476 |
| alternative_term |
MPS1H/S Mucopolysaccharidosis type 1H/S MPSIH/S Mucopolysaccharidosis type IH/S |
| definition |
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:607015 MedDRA:10056916 UMLS:C0086431 ICD-11:5C56.30 ICD-10:E76.0 |
| label |
Hurler-Scheie syndrome |
| notation |
Clinical subtype ORPHA:93476 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_93476 |
| prefLabel |
Hurler-Scheie syndrome |
| present_in |
United Kingdom AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 |
| treeView | |
| subClassOf |