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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
 primary_id: OMIM:617698
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30190335 PMID:31058414 PMID:32369862 NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          3-methylglutaconic aciduria 14
            3-methylglutaconic aciduria type 9 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            amino acid metabolic disorder 802
              organic acidemia 96
                3-methylglutaconic aciduria 14
                  3-methylglutaconic aciduria type 9 1
paths to the root