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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:cerebellar ataxia type 42
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Accession:DOID:0111742 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: CACNA1G-RELATED DISORDERS;   SCA42;   SPINOCEREBELLAR ATAXIA TYPE 42;   spinocerebellar ataxia 42
 broad_synonym: CACNA1G-RELATED CONDITION
 primary_id: MIM:616795
 xref: EFO:0009059;   NCI:C171269;   ORDO:458803


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cerebellar ataxia type 42 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
ISS		 ClinVar Annotator: match by term: CACNA1G-related disorders | ClinVar Annotator: match by term: Spinocerebellar ataxia type 42
OMIM:616795		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 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 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        neurodegenerative disease 5005
          hereditary ataxia 629
            cerebellar ataxia 480
              autosomal dominant cerebellar ataxia 90
                cerebellar ataxia type 42 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Ataxia 952
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal dominant cerebellar ataxia 90
                        cerebellar ataxia type 42 1
paths to the root