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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


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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 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V OMIM
ClinVar		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        inherited metabolic disorder 5434
          3-methylglutaconic aciduria 155
            3-methylglutaconic aciduria type 5 3
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          brain disease 10901
            movement disease 2451
              Dyskinesias 2091
                Ataxia 910
                  Spinocerebellar Ataxias 538
                    cerebellar ataxia 463
                      3-methylglutaconic aciduria type 5 3
paths to the root