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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:pontocerebellar hypoplasia type 15
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Accession:DOID:0112326 term browser browse the term
Definition:A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: PCH15
 primary_id: OMIM:619302
 alt_id: DOID:9005060


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pontocerebellar hypoplasia type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc40 cell division cycle 40 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15 OMIM
ClinVar		 PMID:33220177 NCBI chr20:44,273,080...44,325,605
Ensembl chr20:44,273,089...44,325,358 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        neurodegenerative disease 4902
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 15 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                pontocerebellar hypoplasia type 15 1
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