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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 2
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Accession:DOID:0112328 term browser browse the term
Definition:A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. (DO)
Synonyms:primary_id: MESH:C548070
 alt_id: DOID:9003707
For additional species annotation, visit the Alliance of Genome Resources.



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pontocerebellar hypoplasia type 2 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 2 ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
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 OMIM
ClinVar
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
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 OMIM
ClinVar
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
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:20301773 PMID:25741868 PMID:28492532 NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412
JBrowse link
pontocerebellar hypoplasia type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D OMIM
ClinVar
PMID:12920088 PMID:16199547 PMID:18414213 PMID:20920667 PMID:23052947 More... NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
JBrowse link
pontocerebellar hypoplasia type 2E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E OMIM
ClinVar
PMID:12920088 PMID:24577744 PMID:25741868 PMID:28492532 PMID:28567303 NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676
JBrowse link
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 ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:27392077 NCBI chr13:64,490,216...64,505,617
Ensembl chr13:64,490,218...64,505,617
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        neurodegenerative disease 3928
          pontocerebellar hypoplasia 29
            pontocerebellar hypoplasia type 2 6
              pontocerebellar hypoplasia type 2A 1
              pontocerebellar hypoplasia type 2B 1
              pontocerebellar hypoplasia type 2C 1
              pontocerebellar hypoplasia type 2D 1
              pontocerebellar hypoplasia type 2E 1
              pontocerebellar hypoplasia type 2F 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          brain disease 10660
            cerebellar disease 778
              pontocerebellar hypoplasia 29
                pontocerebellar hypoplasia type 2 6
                  pontocerebellar hypoplasia type 2A 1
                  pontocerebellar hypoplasia type 2B 1
                  pontocerebellar hypoplasia type 2C 1
                  pontocerebellar hypoplasia type 2D 1
                  pontocerebellar hypoplasia type 2E 1
                  pontocerebellar hypoplasia type 2F 1
paths to the root