loading...| Preferred Name |
Scheie syndrome |
|
| Synonyms |
MPSIS mucopolysaccharidosis type V MPS I S mucopolysaccharidosis type IS MPS1S mucopolysaccharidosis type 1S Scheie syndrome mucopolysaccharidosis type V, formerly MPS V, formerly MPS V MPS5, formerly MPS1-S mucopolysaccharidosis Is |
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| Definitions |
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), 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_0011760 |
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| has_exact_synonym |
MPSIS mucopolysaccharidosis type V MPS I S mucopolysaccharidosis type IS MPS1S mucopolysaccharidosis type 1S Scheie syndrome |
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| has_related_synonym |
mucopolysaccharidosis type V, formerly MPS V, formerly MPS V MPS5, formerly MPS1-S mucopolysaccharidosis Is |
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| IAO_0000233 | ||
| label |
Scheie syndrome |
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| prefixIRI |
MONDO:0011760 |
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| prefLabel |
Scheie syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome |
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| textual definition |
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001586 |