dimethylglycine dehydrogenase deficiency

Preferred Label : dimethylglycine dehydrogenase deficiency;

MeSH note : mutation in DMGDH;

MeSH synonym : DMGDH deficiency; DMGDHD;

Origin ID

C565278;

UMLS CUI

C1853892;

Currated CISMeF NLP mapping
- Deficiency of dimethylglycine dehydrogenase (disorder) [SNOMED CT concept]
- Dimethylglycine dehydrogenase deficiency [OMIM Phenotype]
- Dimethylglycine dehydrogenase deficiency [ORDO Disease]
- dimethylglycine dehydrogenase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- dimethylglycine dehydrogenase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of dimethylglycine dehydrogenase (disorder) [SNOMED CT concept]
- Dimethylglycine dehydrogenase deficiency [OMIM Phenotype]
- Dimethylglycine dehydrogenase deficiency [ORDO Disease]
- dimethylglycine dehydrogenase deficiency [Disease (Nov.)]