3-methylglutaconic aciduria type 3
Information
- Disease name
- 3-methylglutaconic aciduria type 3
- Disease ID
- DOID:0110004
- Description
- "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11668429, url:https\://www.ncbi.nlm.nih.gov/pubmed/12126933]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060336
- Cross Reference ID (Disease Ontology)
- MIM:258501
- Cross Reference ID (Disease Ontology)
- ORDO:67047
- Exact Synonym (Disease Ontology)
- 3-methylglutaconic aciduria type III
- Exact Synonym (Disease Ontology)
- autosomal recessive optic atrophy plus syndrome
- Exact Synonym (Disease Ontology)
- autosomal recessive optic atrophy type 3
- Exact Synonym (Disease Ontology)
- Costeff optic atrophy syndrome
- Exact Synonym (Disease Ontology)
- Costeff syndrome
- Exact Synonym (Disease Ontology)
- infantile optic atrophy with chorea and spastic paraplegia
- Exact Synonym (Disease Ontology)
- Iraqi-Jewish optic atrophy plus
- Exact Synonym (Disease Ontology)
- MGA3
- OrphaNumber from OrphaNet (Orphanet)
- 67047
- MedGen concept unique identifier (MedGen Concept name)
- C0574084
- MedGen unique identifier (MedGen Concept name)
- 108273