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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 1B
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Accession:DOID:0060266 term browser browse the term
Definition:A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. (DO)
Synonyms:exact_synonym: PCH1B
 broad_synonym: NON-SYNDROMIC PONTOCEREBELLAR HYPOPLASIA
 primary_id: OMIM:614678
For additional species annotation, visit the Alliance of Genome Resources.



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pontocerebellar hypoplasia type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B OMIM
ClinVar
PMID:18414213 PMID:22544365 PMID:23284067 PMID:23564332 PMID:23883322 More... NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:20635367 PMID:22086604 PMID:22569581 PMID:24033266 PMID:25356970 More... NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:20920667 PMID:23052947 PMID:23275319 PMID:24305467 PMID:25741868 More... NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:49,225,599...49,248,405
Ensembl chr 5:49,225,602...49,248,335
JBrowse link
G Tbc1d23 TBC1 domain family, member 23 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:28823707 NCBI chr11:43,303,355...43,361,507
Ensembl chr11:43,303,355...43,361,503
JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:18414213 PMID:18711368 PMID:20952379 PMID:25741868 PMID:28492532 NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215
JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B ClinVar PMID:9536098 PMID:16470708 PMID:17576681 PMID:18414213 PMID:18711368 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
G Vps53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        neurodegenerative disease 3902
          pontocerebellar hypoplasia 29
            pontocerebellar hypoplasia type 1 16
              pontocerebellar hypoplasia type 1B 11
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            cerebellar disease 776
              pontocerebellar hypoplasia 29
                pontocerebellar hypoplasia type 1 16
                  pontocerebellar hypoplasia type 1B 11
paths to the root