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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 2C
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Accession:DOID:0060269 term browser browse the term
Definition:A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. (DO)
Synonyms:exact_synonym: PCH2C
 primary_id: MESH:C567324
 alt_id: OMIM:612390
For additional species annotation, visit the Alliance of Genome Resources.



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pontocerebellar hypoplasia type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsen34 tRNA splicing endonuclease subunit 34 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2C OMIM
ClinVar
PMID:18414213 PMID:18711368 PMID:25741868 PMID:28492532 NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412
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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 2C 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 2C 1
paths to the root