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ONTOLOGY REPORT - ANNOTATIONS


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
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3-methylglutaconic aciduria type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            amino acid metabolic disorder 326
              organic acidemia 48
                3-methylglutaconic aciduria 12
                  3-methylglutaconic aciduria type 9 1
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