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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-6334
http://purl.bioontology.org/ontology/CSP/1849-6334
|
|---|---|
| Preferred Name | mucopolysaccharidosis type I |
| Definitions |
autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.
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| Synonyms |
mucolipidosis I
lipomucopolysaccharidosis
Hurler syndrome
iduronidase deficiency disease
gargoylism
lipochondrodystrophy
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. |
|---|---|
| altLabel |
mucolipidosis I
lipomucopolysaccharidosis
Hurler syndrome
iduronidase deficiency disease
gargoylism
lipochondrodystrophy
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| prefLabel | mucopolysaccharidosis type I
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-6334
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| Semantic type UMLS property | |
| DID | 1849-6334
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| cui |
C0023786
C0086795
C0268226
C0023806
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |