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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:neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
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Accession:DOID:0081364 term browser browse the term
Definition:A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: NADGP
 primary_id: OMIM:617145
 alt_id: DOID:9005240



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neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 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 chr10:34,501,359...34,525,474
Ensembl chr10:34,501,384...34,525,469
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15146436 PMID:21073987 PMID:22491873 PMID:23117207 PMID:25741868 More... NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        neurodegenerative disease 4872
          neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 2
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        central nervous system disease 12381
          neurodegenerative disease 4872
            neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 2
paths to the root