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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-4121
http://purl.bioontology.org/ontology/CSP/1849-4121
|
|---|---|
| Preferred Name | glycogen storage disease type VII |
| Definitions |
autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant.
|
| Synonyms |
Tarui disease
glycogenosis type VII
muscle phosphofructokinase deficiency
phosphofructokinase myopathy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant. |
|---|---|
| altLabel |
Tarui disease
glycogenosis type VII
muscle phosphofructokinase deficiency
phosphofructokinase myopathy
|
| prefLabel | glycogen storage disease type VII
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| type | |
| tui | T047
|
| notation | 1849-4121
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| Semantic type UMLS property | |
| DID | 1849-4121
|
| cui | C0017926
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| Inverse of RB | |
| subClassOf |
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