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 |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0011759 |
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| closeMatch | ||
| database_cross_reference |
MedDRA:10056916 SCTID:73123008 GARD:12560 Orphanet:93476 OMIM:607015 DOID:0111389 UMLS:C0086431 NCIT:C122782 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/snomedct/73123008 http://purl.obolibrary.org/obo/NCIT_C122782 http://purl.obolibrary.org/obo/DOID_0111389 |
|
| 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 |
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| IAO_0000233 | ||
| id |
MONDO:0011759 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
Hurler-Scheie syndrome |
|
| notation |
MONDO:0011759 |
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| prefLabel |
Hurler-Scheie syndrome |
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| disjointWith | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001586 |