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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
 xref: NCI:C190872


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pontocerebellar hypoplasia type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:23911318 PMID:25741868 PMID:28492532 PMID:34826127 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
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 Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		JBrowse link
G Clp1 cleavage factor polyribonucleotide kinase subunit 1 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar NCBI chr 3:69,806,774...69,818,633
Ensembl chr 3:69,806,778...69,810,421 		JBrowse link
G Exosc3 exosome component 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:18414213 PMID:22544365 PMID:23284067 PMID:23564332 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:2706168 PMID:16199547 PMID:17847012 PMID:20635367 PMID:20952379 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:9536098 PMID:17576681 PMID:20920667 PMID:23052947 PMID:23275319 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 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:49,225,599...49,248,382
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:16199547 PMID:18414213 PMID:18711368 PMID:20301773 PMID:20952379 More... 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 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 PMID:9536098 PMID:17576681 PMID:24577744 PMID:25741868 PMID:28492532 More... 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 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        neurodegenerative disease 4902
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 1 18
              pontocerebellar hypoplasia type 1B 14
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            cerebellar disease 1134
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 1 18
                  pontocerebellar hypoplasia type 1B 14
paths to the root