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DO Term : 3-methylglutaconic aciduria type 3 [DOID:0110004] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
  • synonyms:
  • ORDO:67047,
  • 3-methylglutaconic aciduria type III,
  • Iraqi-Jewish optic atrophy plus,
  • Costeff syndrome,
  • Costeff optic atrophy syndrome,
  • autosomal recessive optic atrophy plus syndrome,
  • autosomal recessive optic atrophy type 3,
  • MGA3,
  • infantile optic atrophy with chorea and spastic paraplegia,
  • OMIM:258501,
  • 258501
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Ontology Term --> Direct children

Ontology Term --> Direct parents