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 VI;   3-methylglutaconic aciduria type 6;   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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  disease 14823
    syndrome 4218
      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  Deafness 262
                    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
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