loading...| Preferred Name |
Glycogen Storage Disease |
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| Synonyms |
GLYCOGEN STORAGE DIS glycogen storage disease GSD - Glycogen storage disease Glycogen storage disease, unspecified glycogenosis Glycogen storage disorder NOS Diseases, Glycogen Storage Glycogen storage disease (disorder) Storage Diseases, Glycogen Storage Disease, Glycogen Glycogen Storage Diseases Glycogen Storage Disease [Disease/Finding] Disease, Glycogen Storage Glycogenoses Glycogen storage disorder |
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| Definitions |
[MSH Definition]: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. [CSP Definition]: Any of a group of metabolic disorders characterized by excessive storage of glycogen. [NCIt Definition]: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0017919 |
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| Definition |
[MSH Definition]: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. [CSP Definition]: Any of a group of metabolic disorders characterized by excessive storage of glycogen. [NCIt Definition]: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. |
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| External Source |
https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0017919 |
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| Label |
Glycogen Storage Disease |
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| notation |
C0017919 |
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| PAT ID |
C0017919 |
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| prefLabel |
Glycogen Storage Disease |
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| Sub Class Of | ||
| Synonyms |
GLYCOGEN STORAGE DIS glycogen storage disease GSD - Glycogen storage disease Glycogen storage disease, unspecified glycogenosis Glycogen storage disorder NOS Diseases, Glycogen Storage Glycogen storage disease (disorder) Storage Diseases, Glycogen Storage Disease, Glycogen Glycogen Storage Diseases Glycogen Storage Disease [Disease/Finding] Disease, Glycogen Storage Glycogenoses Glycogen storage disorder |