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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 profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: PCH2E
 broad_synonym: VPS53-related condition
 xref: MIM:615851;   MONDO:0014370


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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 | ClinVar Annotator: match by term: VPS53-related condition OMIM
ClinVar		 PMID:9536098 PMID:12920088 PMID:17576681 PMID:24033266 PMID:24577744 More... NCBI chr10:60,919,820...61,038,674
Ensembl chr10:61,418,076...61,531,760 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        neurodegenerative disease 5086
          pontocerebellar hypoplasia 33
            pontocerebellar hypoplasia type 2 8
              pontocerebellar hypoplasia type 2E 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            cerebellar disease 1147
              pontocerebellar hypoplasia 33
                pontocerebellar hypoplasia type 2 8
                  pontocerebellar hypoplasia type 2E 1
paths to the root