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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 2E
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Accession:DOID:0060271 term browser browse the term
Definition:A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. (DO)
Synonyms:exact_synonym: PCH2E
 primary_id: OMIM:615851
For additional species annotation, visit the Alliance of Genome Resources.



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pontocerebellar hypoplasia type 2E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E OMIM
ClinVar
PMID:12920088 PMID:24577744 PMID:25741868 PMID:28492532 PMID:28567303 NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        neurodegenerative disease 3871
          pontocerebellar hypoplasia 28
            pontocerebellar hypoplasia type 2 6
              pontocerebellar hypoplasia type 2E 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            cerebellar disease 768
              pontocerebellar hypoplasia 28
                pontocerebellar hypoplasia type 2 6
                  pontocerebellar hypoplasia type 2E 1
paths to the root