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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: MIM: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 chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14694
      Neurodevelopmental Disorders 6979
        Developmental Disabilities 744
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        central nervous system disease 12648
          brain disease 11868
            disease of mental health 8486
              Neurodevelopmental Disorders 6979
                Developmental Disabilities 744
                  CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
paths to the root