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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 speech, hearing loss, and cerebellar atrophy. (DO)
Synonyms:exact_synonym: ADPRS-RELATED CONDITION;   CONDSIAS;   NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
 primary_id: MIM:618170


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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 OMIM
ClinVar		 PMID:25741868 PMID:30100084 PMID:30401461 PMID:37712079 NCBI chr 5:138,614,022...138,619,296
Ensembl chr 5:138,614,022...138,619,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        neurodegenerative disease 5063
          stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                Ataxia 957
                  stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
paths to the root