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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


show annotations for term's descendants           Sort by:
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 susceptibility 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 chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Neurodevelopmental Disorders 6635
        Developmental Disabilities 770
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              visual pathway disease 330
                visual cortex disease 327
                  visual epilepsy 327
                    CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
paths to the root