loading...| Preferred Name |
Hurler-Scheie syndrome |
|
| Synonyms |
MPSIH/S MPS1H/S mucopolysaccharidosis, mps-I-s Hurler-Scheie syndrome MPS I H-S mucopolysaccharidosis type 1H/S mucopolysaccharidosis type IH/S mucopolysaccharidosis type I mild form Scheie's syndrome l-iduronidase deficiency, Scheie type mucopolysaccharidosis IH/S Scheie disease mps type 1s MPS1-HS mucopolysaccharidosis type Ih/S mucopolysaccharidosis type I-S Hurler–Scheie syndrome |
|
| Definitions |
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011759 |
|
| has_exact_synonym |
MPSIH/S MPS1H/S mucopolysaccharidosis, mps-I-s Hurler-Scheie syndrome MPS I H-S mucopolysaccharidosis type 1H/S mucopolysaccharidosis type IH/S |
|
| has_related_synonym |
mucopolysaccharidosis type I mild form Scheie's syndrome l-iduronidase deficiency, Scheie type mucopolysaccharidosis IH/S Scheie disease mps type 1s MPS1-HS mucopolysaccharidosis type Ih/S mucopolysaccharidosis type I-S Hurler–Scheie syndrome |
|
| IAO_0000233 | ||
| label |
Hurler-Scheie syndrome |
|
| prefixIRI |
MONDO:0011759 |
|
| prefLabel |
Hurler-Scheie syndrome |
|
| textual definition |
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. |
|
| disjointWith | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001586 |