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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:Childhood-Onset Neurodegeneration with Cerebellar Atrophy
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Accession:DOID:9000084 term browser browse the term
Synonyms:exact_synonym: CONDCA
 primary_id: OMIM:618276
For additional species annotation, visit the Alliance of Genome Resources.


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Childhood-Onset Neurodegeneration with Cerebellar Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy
OMIM
ClinVar
PMID:25741868 PMID:30420557 PMID:33624935 NCBI chr17:5,510,009...5,614,416
Ensembl chr17:5,511,385...5,614,435
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        neurodegenerative disease 3353
          Childhood-Onset Neurodegeneration with Cerebellar Atrophy 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          neurodegenerative disease 3353
            Childhood-Onset Neurodegeneration with Cerebellar Atrophy 1
paths to the root