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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, DEVELOPMENTAL DELAY, AND SEIZURES
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Accession:DOID:9003251 term browser browse the term
Synonyms:exact_synonym: CADEDS
 primary_id: OMIM:617643;   RDO:9005145
For additional species annotation, visit the Alliance of Genome Resources.



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CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Neurodevelopmental Disorders 6102
        Developmental Disabilities 626
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            visual pathway disease 961
              visual cortex disease 959
                visual epilepsy 959
                  CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
paths to the root