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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:An autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect. (OMIM)
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
 alt_id: RDO:9005209
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 IX
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9
ClinVar
OMIM
PMID:25741868 PMID:27573165 NCBI chr 1:85,470,810...85,480,813
Ensembl chr 1:85,470,831...85,480,407
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        inherited metabolic disorder 2255
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            amino acid metabolic disorder 433
              organic acidemia 55
                3-methylglutaconic aciduria 12
                  3-methylglutaconic aciduria type 9 1
paths to the root