Disease

3-methylglutaconic aciduria type 3

Name: 3-methylglutaconic aciduria type 3
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110004 3-methylglutaconic aciduria type 3 A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. Costeff syndrome Costeff optic atrophy syndrome autosomal recessive optic atrophy type 3 MGA3 3-methylglutaconic aciduria type III autosomal recessive optic atrophy plus syndrome Iraqi-Jewish optic atrophy plus infantile optic atrophy with chorea and spastic paraplegia

Definition

A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.

Synonyms

3-methylglutaconic aciduria type III
autosomal recessive optic atrophy plus syndrome

Cross References

MIM:258501
ORDO:67047

Parent Terms

3-methylglutaconic aciduria
autosomal recessive disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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