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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Dimethylglycine Dehydrogenase Deficiency
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Accession:DOID:9005574 term browser browse the term
Synonyms:exact_synonym: DMGDH Deficiency;   DMGDHD
 primary_id: MESH:C565278;   RDO:0013961
 alt_id: OMIM:605850
For additional species annotation, visit the Alliance of Genome Resources.


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Dimethylglycine Dehydrogenase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmgdh dimethylglycine dehydrogenase ISO ClinVar Annotator: match by OMIM:605850
ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency
OMIM
ClinVar
PMID:10102904 PMID:10767172 PMID:11231903 PMID:25741868 PMID:28492532 NCBI chr 2:23,289,376...23,370,360
Ensembl chr 2:23,289,374...23,370,477
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            Dimethylglycine Dehydrogenase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              Dimethylglycine Dehydrogenase Deficiency 1
paths to the root