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 type 3 ID (Ontology) DOID:0110004 (Human Disease)
Definition A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
Also Known As "3-methylglutaconic aciduria type III" ; "autosomal recessive optic atrophy plus syndrome" ; "autosomal recessive optic atrophy type 3" (for all, see Synonyms field below)
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DO.org
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 Genes
 3-methylglutaconic aciduria type 3       3
 for disease ribbon | 3-methylglutaconic aciduria type 3       3
 model of | 3-methylglutaconic aciduria type 3       3
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
organic acidemia                 |
 |__3-methylglutaconic aciduria__|
                                 3-methylglutaconic aciduria type 3  3 rec.
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Is a autosomal recessive disease
3-methylglutaconic aciduria
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Synonyms
  • "3-methylglutaconic aciduria type III" EXACT
    "autosomal recessive optic atrophy plus syndrome" EXACT
    "autosomal recessive optic atrophy type 3" EXACT
    "Costeff optic atrophy syndrome" EXACT
    "Costeff syndrome" EXACT
    "infantile optic atrophy with chorea and spastic paraplegia" EXACT
    "Iraqi-Jewish optic atrophy plus" EXACT
    "MGA3" EXACT OMO:0003012
Secondary IDs
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MIM:258501
ORDO:67047