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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 9
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Accession:DOID:0070002 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type IX;   3-methylglutaconic aciduria type IX, MGCA9;   3-methylglutaconic acuduria type IX, MGCA9;   MGCA9;   TIMM50-RELATED CONDITION
 primary_id: OMIM:617698


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3-methylglutaconic aciduria type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 | ClinVar Annotator: match by term: TIMM50-related condition OMIM
ClinVar		 PMID:25741868 PMID:27573165 PMID:28492532 PMID:30190335 PMID:31058414 More... NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          3-methylglutaconic aciduria 152
            3-methylglutaconic aciduria type 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            amino acid metabolic disorder 1525
              organic acidemia 384
                3-methylglutaconic aciduria 152
                  3-methylglutaconic aciduria type 9 1
paths to the root