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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 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
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Accession:DOID:9005240 term browser browse the term
Definition:An autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. (OMIM)
Synonyms:exact_synonym: NADGP
 primary_id: OMIM:617145
 alt_id: RDO:9001504
For additional species annotation, visit the Alliance of Genome Resources.


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Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ClinVar PMID:25741868 NCBI chr10:35,680,687...35,704,685
Ensembl chr10:35,680,658...35,704,776
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
ClinVar
OMIM
PMID:25741868 PMID:27545679 PMID:28492532 PMID:29959261 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        neurodegenerative disease 3353
          Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          neurodegenerative disease 3353
            Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy 2
paths to the root