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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:stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
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Accession:DOID:0070352 term browser browse the term
Definition:A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy. (DO)
Synonyms:exact_synonym: CONDSIAS
 primary_id: OMIM:618170
For additional species annotation, visit the Alliance of Genome Resources.



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stress-induced childhood-onset neurodegeneration with variable ataxia and seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
ClinVar
OMIM
PMID:25741868 PMID:30100084 PMID:30401461 NCBI chr 5:138,614,022...138,619,296
Ensembl chr 5:138,614,022...138,619,296
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        neurodegenerative disease 3521
          stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Ataxia 510
                  stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
paths to the root