Preferred Name |
Mucopolysaccharidosis Type I |
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Synonyms |
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Definitions |
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C85053 |
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code |
C85053 |
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definition |
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). |
|
label |
Mucopolysaccharidosis Type I |
|
Preferred_Name |
Mucopolysaccharidosis Type I |
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prefixIRI |
NCIT:C85053 |
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prefLabel |
Mucopolysaccharidosis Type I |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0023786 |
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subClassOf |
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