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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:childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
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Accession:DOID:0081419 term browser browse the term
Definition:A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. (DO)
Synonyms:exact_synonym: DYSTONIA 29, CHILDHOOD-ONSET;   DYT29;   DYTOABG;   MECR-related neurologic disorder;   MEPAN syndrome;   Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
 broad_synonym: MECR-RELATED CONDITION
 primary_id: MIM:617282
 alt_id: DOID:9003458
 xref: GARD:13488;   ORDO:508093


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childhood-onset dystonia with optic atrophy and basal ganglia abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: DYSTONIA 29, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | ClinVar Annotator: match by term: MECR-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7373
      eye disease 3721
        optic nerve disease 500
          optic atrophy 323
            childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          sensory system disease 7373
            eye disease 3721
              optic nerve disease 500
                optic atrophy 323
                  childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1
paths to the root