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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12920088 PMID:17576681 PMID:24577744 PMID:25741868 More... NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676 		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 2 8
              pontocerebellar hypoplasia type 2E 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            cerebellar disease 1134
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 2 8
                  pontocerebellar hypoplasia type 2E 1
paths to the root