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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



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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 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:258501
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
OMIM
CTD
MouseDO
ClinVar
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Nutritional and Metabolic Diseases 8266
      disease of metabolism 8266
        inherited metabolic disorder 6279
          3-methylglutaconic aciduria 152
            3-methylglutaconic aciduria type 3 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            movement disease 2599
              Dyskinesias 2211
                choreatic disease 469
                  3-methylglutaconic aciduria type 3 2
paths to the root