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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 2A
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Accession:DOID:0060267 term browser browse the term
Definition:A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)
Synonyms:exact_synonym: PCH2A;   Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy;   Volendam Neurodegenerative Disease
 broad_synonym: TSEN54-RELATED CONDITION
 xref: GARD:3631;   MESH:C564738;   MIM:277470;   MONDO:0010190


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pontocerebellar hypoplasia type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A | ClinVar Annotator: match by term: VOLENDAM NEURODEGENERATIVE DISEASE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,540,479...101,549,022
Ensembl chr10:101,540,329...101,549,363 		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 2A 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 2A 1
paths to the root