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| Term | phosphoglycerate kinase 1 deficiency | ID (Ontology) | DOID:0111933 (Human Disease) |
| Definition | A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. | ||
| Also Known As | "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" ; "glycogenosis due to phosphoglycerate kinase 1 deficiency" ; "GSD due to phosphoglycerate kinase 1 deficiency" (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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X-linked monogenic disease |__X-linked recessive disease___ carbohydrate metabolic disorder | |__glucose metabolism disease___| phosphoglycerate kinase 1 deficiency 2 rec. |
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| Is a |
X-linked recessive disease glucose metabolism disease |
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External Crossreferences & Linkouts
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GARD:7389 MESH:C567067 MIM:300653 NCI:C126738 ORDO:713 UMLS_CUI:C1970848 |
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