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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 2B
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Accession:DOID:0060268 term browser browse the term
Definition:A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. (DO)
Synonyms:exact_synonym: PCH2B
 xref: MESH:C567325;   MIM:612389;   MONDO:0012890


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pontocerebellar hypoplasia type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:18711368 PMID:20301773 PMID:20952379 PMID:23562994 More... NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        neurodegenerative disease 5005
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 2 8
              pontocerebellar hypoplasia type 2B 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            cerebellar disease 1140
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 2 8
                  pontocerebellar hypoplasia type 2B 1
paths to the root