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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



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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 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 More... NCBI chr15:302,480...1,007,675
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 21140
    Developmental Disease 18459
      Neurodevelopmental Disorders 6814
        Developmental Disabilities 775
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        Neurologic Manifestations 9994
          sensory system disease 6891
            eye disease 3449
              visual pathway disease 343
                visual cortex disease 340
                  visual epilepsy 340
                    CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
paths to the root