FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dimethylglycine dehydrogenase deficiency ID (Ontology) DOID:0081446 (Human Disease)
Definition An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14.
Also Known As "DMG dehydrogenase deficiency"
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 Genes
 dimethylglycine dehydrogenase deficiency       2
 for disease ribbon | dimethylglycine dehydrogenase deficiency       2
 model of | dimethylglycine dehydrogenase deficiency       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   dimethylglycine dehydrogenase deficiency  2 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
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Synonyms
  • "DMG dehydrogenase deficiency" EXACT
Secondary IDs
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MIM:605850
ORDO:243343