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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 Atrophy with Seizures and Variable Developmental Delay
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Accession:DOID:9009196 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging.
Synonyms:exact_synonym: CASVDD
 primary_id: OMIM:618501
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM
ClinVar
PMID:24358150, PMID:28492532, PMID:29997391, PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY ClinVar PMID:29997391, PMID:30410802 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        Developmental Disabilities 692
          Cerebellar Atrophy with Seizures and Variable Developmental Delay 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Developmental Disabilities 692
                  Cerebellar Atrophy with Seizures and Variable Developmental Delay 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.