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DO Term : dimethylglycine dehydrogenase deficiency [DOID:0081446] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • DMG dehydrogenase deficiency,
  • ORDO:243343,
  • OMIM:605850,
  • 605850
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents