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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 2F
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Accession:DOID:0112329 term browser browse the term
Definition:A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. (DO)
Synonyms:exact_synonym: PCH2F
 alt_id: DOID:9004573
 xref: MONDO:0014874;   OMIM:617026


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pontocerebellar hypoplasia type 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsen15 tRNA splicing endonuclease subunit 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F		 OMIM
CTD
ClinVar		 PMID:25558065 PMID:25741868 PMID:27392077 NCBI chr13:64,490,216...64,505,591
Ensembl chr13:64,490,218...64,505,617 		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 14091
        neurodegenerative disease 4906
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 2 8
              pontocerebellar hypoplasia type 2F 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebellar disease 1134
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 2 8
                  pontocerebellar hypoplasia type 2F 1
paths to the root