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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-3893
http://purl.bioontology.org/ontology/CSP/1849-3893
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|---|---|
| Preferred Name | glycogen storage disease type III |
| Definitions |
autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes.
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| Synonyms |
glycogenosis type III
debrancher deficiency
Cori's disease
debrancher glycogen storage disease
amylo 1,6 glucosidase deficiency
limit dextrinosis
Forbes' disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. |
|---|---|
| altLabel |
glycogenosis type III
debrancher deficiency
Cori's disease
debrancher glycogen storage disease
amylo 1,6 glucosidase deficiency
limit dextrinosis
Forbes' disease
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| prefLabel | glycogen storage disease type III
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| type | |
| tui | T047
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| notation | 1849-3893
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| Semantic type UMLS property | |
| DID | 1849-3893
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| cui | C0017922
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| Inverse of RB | |
| subClassOf |
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