loading...| Preferred Name |
Hurler-Scheie syndrome |
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| Synonyms |
Mucopolysaccharidosis type IH/S |
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| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_93476 |
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| alternative_term |
Mucopolysaccharidosis type IH/S MPSIH/S MPS1H/S Mucopolysaccharidosis type 1H/S |
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| 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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:E76.0 OMIM:607015 UMLS:C0086431 ICD-11:5C56.30 MedDRA:10056916 |
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| label |
Hurler-Scheie syndrome |
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| notation |
ORPHA:93476 Clinical subtype |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_93476 |
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| prefLabel |
Hurler-Scheie syndrome |
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| present_in |
Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.24 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView | ||
| subClassOf |