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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-4178
http://purl.bioontology.org/ontology/CSP/1849-4178
|
|---|---|
| Preferred Name | glycogen storage disease type VIII |
| Definitions |
x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity; symptoms are relatively mild, hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present; liver shrinkage occurs in response to glucagon.
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| Synonyms |
glycogenosis type VIII
hepatic phosphorylase kinase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity; symptoms are relatively mild, hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present; liver shrinkage occurs in response to glucagon. |
|---|---|
| altLabel |
glycogenosis type VIII
hepatic phosphorylase kinase deficiency
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| prefLabel | glycogen storage disease type VIII
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| type | |
| tui | T047
|
| notation | 1849-4178
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| Semantic type UMLS property | |
| DID | 1849-4178
|
| cui |
C0017927
C0268147
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| Inverse of RB | |
| subClassOf |
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