OBO ID: DOID:0110004
Term Name: 3-methylglutaconic aciduria type 3 Search Ontology:
Synonyms:
  • 3-methylglutaconic aciduria type III
  • autosomal recessive optic atrophy plus syndrome
  • autosomal recessive optic atrophy type 3
  • Costeff optic atrophy syndrome
  • Costeff syndrome
  • infantile optic atrophy with chorea and spastic paraplegia
  • Iraqi-Jewish optic atrophy plus
  • MGA3
Definition: A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. (2)
References:
Ontology: Human Disease   (DOID:0110004)
OTHER 3-methylglutaconic aciduria type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OPA3 3-methylglutaconic aciduria, type III 258501
ZEBRAFISH MODELS
Fish Conditions Citations
opa3hg8Tg/hg8Tg standard conditions Pei et al., 2010
PHENOTYPE No data available

CITATIONS (1)