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| Term | D-glyceric aciduria | ID (Ontology) | DOID:0111626 (Human Disease) |
| Definition | An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. | ||
| Also Known As | "D-glycerate kinase deficiency" ; "D-glyceric acidemia" ; "D-glycericacidemia" (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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disease of metabolism |__inherited metabolic disorder__ autosomal genetic disease | |__autosomal recessive disease___| genetic disease | |__inherited metabolic disorder__| D-glyceric aciduria 1 rec. |
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autosomal recessive disease inherited metabolic disorder |
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GARD:234 ICD10CM:E72.59 MESH:C535767 MIM:220120 ORDO:941 UMLS_CUI:C1291386 |
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