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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 29
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Accession:DOID:9008984 term browser browse the term
Definition:A progressive neurodegenerative disorder characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. (OMIM)
Synonyms:exact_synonym: BAVAHAKA;   Barakat-van Ham-Kaya syndrome;   NEDHCA;   SCAR29;   neurodevelopmental disorder with hypotonia and cerebellar ataxia
 primary_id: OMIM:619389
For additional species annotation, visit the Alliance of Genome Resources.



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Autosomal Recessive Spinocerebellar Ataxia 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps41 VPS41 subunit of HOPS complex ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 OMIM
ClinVar
PMID:32808683 PMID:33764426 PMID:33851776 NCBI chr17:46,063,124...46,227,582
Ensembl chr17:46,063,124...46,227,791
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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 29 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 29 1
paths to the root