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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, PMID:20350831, PMID:23700088, PMID:24136862, PMID:24749080, PMID:25159689, PMID:25201222, PMID:25205859, PMID:25741868, PMID:26190011, PMID:27528516, PMID:27629047, PMID:28081242, PMID:28492532, PMID:30311386 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                choreatic disease 175
                  3-methylglutaconic aciduria type 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.