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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:3-methylglutaconic aciduria type 5
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Accession:DOID:0110000 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type V;   DCMA;   DCMA syndrome;   MGA type V;   MGA5;   MGCA5;   dilated cardiomyopathy with ataxia
 primary_id: MESH:C565706
 alt_id: OMIM:610198;   RDO:0014268
 xref: NCI:C173146;   ORDO:66634
For additional species annotation, visit the Alliance of Genome Resources.



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3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by OMIM:610198
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
OMIM
ClinVar
PMID:16055927 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27928778 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 5 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Ataxia 510
                  Spinocerebellar Ataxias 351
                    cerebellar ataxia 282
                      3-methylglutaconic aciduria type 5 1
paths to the root