OBO ID: DOID:0111626 |
Term Name: | D-glyceric aciduria | Search Ontology: | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/20949620 | ||
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Ontology: | Human Disease ( DOID:0111626 ) |
OTHER D-glyceric aciduria PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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