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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-3950
http://purl.bioontology.org/ontology/CSP/1849-3950
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|---|---|
| Preferred Name | glycogen storage disease type IV |
| Definitions |
autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2.
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| Synonyms |
amylo 1,4:1,6 transglucosidase deficiency
brancher deficiency
amylopectinosis
glycogenosis type IV
Andersen's disease
brancher deficiency glycogenosis
brancher glycogen storage disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2. |
|---|---|
| altLabel |
amylo 1,4:1,6 transglucosidase deficiency
brancher deficiency
amylopectinosis
glycogenosis type IV
Andersen's disease
brancher deficiency glycogenosis
brancher glycogen storage disease
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| prefLabel | glycogen storage disease type IV
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| type | |
| tui | T047
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| notation | 1849-3950
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| Semantic type UMLS property | |
| DID | 1849-3950
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| cui |
C0677581
C0017923
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| Inverse of RB | |
| subClassOf |
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