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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:3-methylglutaconic aciduria type 3
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Accession:DOID:0110004 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria, type III;   Costeff optic atrophy syndrome;   Costeff syndrome;   Iraqi Jewish optic atrophy plus;   MGA, type III;   MGA3;   MGCA3;   OPA3, Autosomal Recessive;   Optic Atrophy 3, Autosomal Recessive;   autosomal recessive optic atrophy plus syndrome;   autosomal recessive optic atrophy type 3;   infantile optic atrophy with chorea and spastic paraplegia;   optic atrophy plus syndrome
 primary_id: MESH:C535311
 alt_id: OMIM:258501
 xref: ORDO:67047
For additional species annotation, visit the Alliance of Genome Resources.



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3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by OMIM:258501
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
OMIM
ClinVar
PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:18985435 More... NCBI chr 1:78,881,392...78,899,549
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 3 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            movement disease 1417
              Dyskinesias 1079
                choreatic disease 172
                  3-methylglutaconic aciduria type 3 1
paths to the root