FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ID (Ontology) DOID:0110001 (Human Disease)
Definition A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.
Also Known As "3-methylglutaconic aciduria type 6" ; "MEGDEL" ; "MEGDEL syndrome" (for all, see Synonyms field below)
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 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome       2
 for disease ribbon | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome       2
 model of | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
organic acidemia                 |
 |__3-methylglutaconic aciduria__|
                                 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  2 rec.
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Is a autosomal recessive disease
3-methylglutaconic aciduria
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Synonyms
  • "3-methylglutaconic aciduria type 6" EXACT
    "MEGDEL" EXACT OMO:0003012
    "MEGDEL syndrome" EXACT
    "MGCA6" EXACT OMO:0003012
Secondary IDs
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MIM:614739
ORDO:352328