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| Term | glycogen storage disease I | ID (Ontology) | DOID:0081329 (Human Disease) |
| Definition | A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. | ||
| Also Known As | "deficiency of glucose-6-phosphatase" ; "Glycogen storage disease 1" ; "glycogen storage disease type I" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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glycogen metabolism disorder |__glycogen storage disease |__glycogen storage disease I 2 rec. |__glycogen storage disease Ia 1 rec. |__glycogen storage disease Ib 1 rec. |__glycogen storage disease Ic 1 rec. |
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| Is a | glycogen storage disease | ||
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External Crossreferences & Linkouts
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ICD10CM:E74.01 MESH:D005953 NCI:C84733 ORDO:364 SNOMEDCT_US_2023_03_01:7265005 UMLS_CUI:C0017920 |
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