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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:Autosomal Recessive Spinocerebellar Ataxia 30
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Accession:DOID:9006343 term browser browse the term
Definition:A progressive neurologic disorder characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Caused by homozygous mutation in the PITRM1 gene on chromosome 10p15.
Synonyms:exact_synonym: SCAR30
 primary_id: OMIM:619405
For additional species annotation, visit the Alliance of Genome Resources.



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Autosomal Recessive Spinocerebellar Ataxia 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 OMIM
ClinVar
PMID:26697887 PMID:29383861 PMID:29764912 NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        neurodegenerative disease 3902
          hereditary ataxia 405
            cerebellar ataxia 280
              autosomal recessive cerebellar ataxia 157
                Autosomal Recessive Spinocerebellar Ataxia 30 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Ataxia 546
                  Spinocerebellar Ataxias 355
                    cerebellar ataxia 280
                      autosomal recessive cerebellar ataxia 157
                        Autosomal Recessive Spinocerebellar Ataxia 30 1
paths to the root