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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;   TSEN34-RELATED CONDITION
 primary_id: MESH:C567324
 alt_id: MIM:612390


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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 | ClinVar Annotator: match by term: TSEN34-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18414213 PMID:18711368 PMID:20301773 PMID:25741868 PMID:28492532 NCBI chr 1:74,432,687...74,440,553
Ensembl chr 1:74,432,685...74,440,832 		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 2C 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 2C 1
paths to the root