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ONTOLOGY REPORT - ANNOTATIONS


Term:3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
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Accession:DOID:0110001 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type 6;   3-methylglutaconic aciduria type VI;   MEGDEL;   MEGDEL syndrome;   MGCA6
 primary_id: OMIM:614739
 alt_id: RDO:9000156
 xref: ORDO:352328
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3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15639
    syndrome 5218
      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  Deafness 250
                    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.