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ONTOLOGY REPORT - ANNOTATIONS


Term:pontocerebellar hypoplasia
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Accession:DOID:0060264 term browser browse the term
Definition:A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO)
Synonyms:exact_synonym: Congenital Pontocerebellar Hypoplasia;   PCH
 primary_id: MESH:C580383
 alt_id: RDO:0015918
 xref: GARD:10977;   OMIM:PS607596
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
pontocerebellar hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:8554872
G Rars2 arginyl-tRNA synthetase 2, mitochondrial JBrowse link 5 50,075,510 50,127,625 RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Slc35a1 solute carrier family 35 member A1 JBrowse link 5 50,119,880 50,142,689 RGD:8554872
G Tbc1d23 TBC1 domain family, member 23 JBrowse link 11 45,401,396 45,459,841 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:11554173
G Trmt10b tRNA methyltransferase 10B JBrowse link 5 60,841,517 60,866,480 RGD:8554872
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:8554872
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
Pontocerebellar Hypoplasia Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:11554173
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
RGD:11554173
pontocerebellar hypoplasia type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clp1 cleavage and polyadenylation factor I subunit 1 JBrowse link 3 72,125,269 72,137,122 RGD:7240710
RGD:8554872
Pontocerebellar Hypoplasia Type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d23 TBC1 domain family, member 23 JBrowse link 11 45,401,396 45,459,841 RGD:8554872
RGD:7240710
Pontocerebellar Hypoplasia Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp1a charged multivesicular body protein 1A JBrowse link 19 56,001,724 56,010,004 RGD:8554872
G Exosc9 exosome component 9 JBrowse link 2 123,264,679 123,275,623 RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:7240710
RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
Pontocerebellar Hypoplasia Type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc8 exosome component 8 JBrowse link 2 143,925,643 143,932,240 RGD:8554872
RGD:7240710
Pontocerebellar Hypoplasia Type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc9 exosome component 9 JBrowse link 2 123,264,679 123,275,623 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps53 VPS53 subunit of GARP complex JBrowse link 10 64,218,596 64,341,064 RGD:7240710
RGD:8554872
Pontocerebellar Hypoplasia Type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen15 tRNA splicing endonuclease subunit 15 JBrowse link 13 69,765,093 69,781,019 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pclo piccolo (presynaptic cytomatrix protein) JBrowse link 4 16,454,904 17,058,921 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rars2 arginyl-tRNA synthetase 2, mitochondrial JBrowse link 5 50,075,510 50,127,625 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp1a charged multivesicular body protein 1A JBrowse link 19 56,001,724 56,010,004 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd2 adenosine monophosphate deaminase 2 JBrowse link 2 210,861,624 210,874,348 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          pontocerebellar hypoplasia 20
            Pontocerebellar Hypoplasia Type 1 + 6
            Pontocerebellar Hypoplasia Type 11 1
            Pontocerebellar Hypoplasia Type 12 1
            Pontocerebellar Hypoplasia Type 13 0
            Pontocerebellar Hypoplasia Type 2 + 6
            pontocerebellar hypoplasia type 10 1
            pontocerebellar hypoplasia type 3 1
            pontocerebellar hypoplasia type 4 1
            pontocerebellar hypoplasia type 5 1
            pontocerebellar hypoplasia type 6 1
            pontocerebellar hypoplasia type 7 1
            pontocerebellar hypoplasia type 8 1
            pontocerebellar hypoplasia type 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            cerebellar disease 310
              pontocerebellar hypoplasia 20
                Pontocerebellar Hypoplasia Type 1 + 6
                Pontocerebellar Hypoplasia Type 11 1
                Pontocerebellar Hypoplasia Type 12 1
                Pontocerebellar Hypoplasia Type 13 0
                Pontocerebellar Hypoplasia Type 2 + 6
                pontocerebellar hypoplasia type 10 1
                pontocerebellar hypoplasia type 3 1
                pontocerebellar hypoplasia type 4 1
                pontocerebellar hypoplasia type 5 1
                pontocerebellar hypoplasia type 6 1
                pontocerebellar hypoplasia type 7 1
                pontocerebellar hypoplasia type 8 1
                pontocerebellar hypoplasia type 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.