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ONTOLOGY REPORT - ANNOTATIONS


Term:3-methylglutaconic aciduria type 1
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Accession:DOID:0110002 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type I;   3-methylglutaconyl-CoA hydratase deficiency;   3MG-CoA hydratase deficiency;   MGA type I;   MGA1;   MGCA1
 primary_id: MESH:C562801
 alt_id: OMIM:250950;   RDO:0012364
 xref: ORDO:67046
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3-methylglutaconic aciduria type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:7240710
RGD:8554872

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Path 1
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 1 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 1 1
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