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ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION - Ontology Report - Rat Genome Database

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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:ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
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Accession:DOID:9009163 term browser browse the term
Definition:This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy.
Synonyms:primary_id: MIM:270500

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ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Neurodevelopmental Disorders 6972
        intellectual disability 4391
          ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  intellectual disability 4391
                    spastic ataxia 84
                      ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
paths to the root