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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 Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 OMIM
ClinVar
PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Nutritional and Metabolic Diseases 6810
      disease of metabolism 6810
        inherited metabolic disorder 4713
          3-methylglutaconic aciduria 14
            3-methylglutaconic aciduria type 5 3
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        central nervous system disease 11415
          brain disease 10712
            movement disease 1757
              Dyskinesias 1411
                Ataxia 558
                  Spinocerebellar Ataxias 363
                    cerebellar ataxia 287
                      3-methylglutaconic aciduria type 5 3
paths to the root