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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:Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits
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Accession:DOID:9009231 term browser browse the term
Synonyms:exact_synonym: SCA42ND;   early-onset severe spinocerebellar ataxia-42 with neurodevelopmental deficits
 broad_synonym: CACNA1G-RELATED CONDITION
 primary_id: OMIM:618087


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Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29878067 PMID:30792901 PMID:31217264 More... NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        neurodegenerative disease 4894
          hereditary ataxia 636
            cerebellar ataxia 471
              autosomal dominant cerebellar ataxia 87
                Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Dyskinesias 2190
                Ataxia 957
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal dominant cerebellar ataxia 87
                        Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 1
paths to the root