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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 CDC40 on chromosome 6q21. (DO)
Synonyms:exact_synonym: PCH15
 primary_id: OMIM:619302
 alt_id: DOID:9005060
For additional species annotation, visit the Alliance of Genome Resources.



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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...44,325,610
Ensembl chr20:44,273,089...44,325,358
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        neurodegenerative disease 3902
          pontocerebellar hypoplasia 29
            pontocerebellar hypoplasia type 15 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                pontocerebellar hypoplasia type 15 1
paths to the root