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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
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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           Sort by:
 
pontocerebellar hypoplasia 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: Pontocerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:24033266 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:28492532 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:24033266 NCBI chr 5:50,119,880...50,142,689
Ensembl chr 5:50,119,881...50,142,724
JBrowse link
G Tbc1d23 TBC1 domain family, member 23 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:28823707 NCBI chr11:45,401,396...45,459,841
Ensembl chr11:45,401,403...45,459,821
JBrowse link
G Toe1 target of EGR1, exonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:28092684 NCBI chr 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 4:147,455,506...147,490,869
Ensembl chr 4:147,455,533...147,490,733
JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:18414213, PMID:25741868 NCBI chr 1:64,023,924...64,031,756
Ensembl chr 1:64,024,240...64,030,175
Ensembl chr 1:64,024,240...64,030,175
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:23757202, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26701950, PMID:27430971, PMID:27570394, PMID:27884173, PMID:28492532, PMID:29410950, PMID:30311386, PMID:32214227 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
Pontocerebellar Hypoplasia Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc3 exosome component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544365 NCBI chr 5:60,866,498...60,871,734
Ensembl chr 5:60,868,502...60,871,705
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213, PMID:19646678, PMID:21937992, PMID:24088041, PMID:24126608, PMID:25356970, PMID:25609612, PMID:25741868, PMID:26583493, PMID:26633545, PMID:27281532, PMID:28492532 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
pontocerebellar hypoplasia type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clp1 cleavage factor polyribonucleotide kinase subunit 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 10 OMIM
ClinVar
PMID:24766809, PMID:24766810, PMID:25741868, PMID:29307788 NCBI chr 3:72,125,269...72,137,122
Ensembl chr 3:72,125,273...72,128,973
JBrowse link
Pontocerebellar Hypoplasia Type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d23 TBC1 domain family, member 23 ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 ClinVar
OMIM
PMID:25741868, PMID:28823706, PMID:28823707 NCBI chr11:45,401,396...45,459,841
Ensembl chr11:45,401,403...45,459,821
JBrowse link
Pontocerebellar Hypoplasia Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 ClinVar
OMIM
PMID:30089828 NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676
JBrowse link
Pontocerebellar Hypoplasia Type 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 OMIM
ClinVar
PMID:30624672, PMID:31207318 Ensembl chr 1:221,430,648...221,440,467 JBrowse link
pontocerebellar hypoplasia type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A ClinVar PMID:25741868 NCBI chr19:56,001,724...56,010,004
Ensembl chr19:56,001,724...56,010,004
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A OMIM
ClinVar
PMID:18414213, PMID:19646678, PMID:21937992, PMID:24088041, PMID:24126608, PMID:25356970, PMID:25609612, PMID:25741868, PMID:26467025, PMID:26583493, PMID:26633545, PMID:27281532, PMID:28492532 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
pontocerebellar hypoplasia type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1b
ClinVar Annotator: match by OMIM:614678
OMIM
ClinVar
PMID:8147499, PMID:11110791, PMID:18414213, PMID:22544365, PMID:23284067, PMID:23564332, PMID:23883322, PMID:23975261, PMID:24033266, PMID:24524299, PMID:25149867, PMID:25326635, PMID:25533962, PMID:25741868, PMID:25809939, PMID:27777260, PMID:28492532, PMID:28687512, PMID:29656927 NCBI chr 5:60,866,498...60,871,734
Ensembl chr 5:60,868,502...60,871,705
JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1b ClinVar NCBI chr 5:60,841,517...60,866,480
Ensembl chr 5:60,850,852...60,865,207
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1b ClinVar PMID:25741868 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
Pontocerebellar Hypoplasia Type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1c ClinVar
OMIM
PMID:24989451, PMID:25741868, PMID:28492532 NCBI chr 2:143,925,643...143,932,240
Ensembl chr 2:143,925,546...143,931,940
JBrowse link
Pontocerebellar Hypoplasia Type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D ClinVar
OMIM
PMID:25741868, PMID:29727687, PMID:30125339, PMID:30690203 NCBI chr 2:123,264,679...123,275,623
Ensembl chr 2:123,264,694...123,294,880
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
ClinVar Annotator: match by OMIM:277470
OMIM
ClinVar
PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
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
ClinVar Annotator: match by OMIM:612389
OMIM
ClinVar
PMID:18414213, PMID:18711368, PMID:23562994, PMID:25741868, PMID:28492532 NCBI chr 4:147,455,506...147,490,869
Ensembl chr 4:147,455,533...147,490,733
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
ClinVar Annotator: match by OMIM:612390
OMIM
ClinVar
PMID:18414213, PMID:18711368, PMID:25741868 NCBI chr 1:64,023,924...64,031,756
Ensembl chr 1:64,024,240...64,030,175
Ensembl chr 1:64,024,240...64,030,175
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
ClinVar Annotator: match by OMIM:613811
OMIM
ClinVar
PMID:12920088, PMID:18414213, PMID:20920667, PMID:25044680, PMID:25741868, PMID:28492532, PMID:32214227 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
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
ClinVar Annotator: match by OMIM:615851
OMIM
ClinVar
PMID:12920088, PMID:24577744, PMID:28567303, PMID:30100179 NCBI chr10:64,218,596...64,341,064
Ensembl chr10:64,222,276...64,341,109
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 ClinVar
OMIM
PMID:25558065, PMID:27392077 NCBI chr13:69,765,093...69,781,019
Ensembl chr13:69,765,091...69,781,019
JBrowse link
pontocerebellar hypoplasia type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3
ClinVar Annotator: match by OMIM:608027
OMIM
ClinVar
PMID:12771259, PMID:25741868, PMID:25832664 NCBI chr 4:16,454,904...17,058,921
Ensembl chr 4:16,454,904...17,058,921
JBrowse link
pontocerebellar hypoplasia type 4 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 4
ClinVar Annotator: match by term: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia
ClinVar
OMIM
PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:23757202, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26701950, PMID:27430971, PMID:27570394, PMID:27884173, PMID:28492532, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
pontocerebellar hypoplasia type 5 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 5
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia fetal-onset
ClinVar
OMIM
PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
pontocerebellar hypoplasia type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6
ClinVar Annotator: match by OMIM:611523
OMIM
ClinVar
PMID:17847012, PMID:18414213, PMID:20635367, PMID:20952379, PMID:22086604, PMID:22569581, PMID:25326635, PMID:25356970, PMID:25741868, PMID:25809939, PMID:26083569, PMID:26795593, PMID:26970947, PMID:27061686, PMID:28492532, PMID:30006346, PMID:32313153, PMID:32860008 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects ClinVar NCBI chr 5:50,119,880...50,142,689
Ensembl chr 5:50,119,881...50,142,724
JBrowse link
pontocerebellar hypoplasia type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 7 ClinVar
OMIM
PMID:21594990, PMID:28092684 NCBI chr 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
JBrowse link
pontocerebellar hypoplasia type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by OMIM:614961 OMIM
ClinVar
PMID:23023333, PMID:25741868 NCBI chr19:56,001,724...56,010,004
Ensembl chr19:56,001,724...56,010,004
JBrowse link
pontocerebellar hypoplasia type 9 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: Pontocerebellar hypoplasia, type 9
ClinVar Annotator: match by OMIM:615809
OMIM
ClinVar
PMID:23911318, PMID:25741868, PMID:27066553, PMID:28815207, PMID:32214227 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
JBrowse link
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL ClinVar
OMIM
PMID:25741868, PMID:29053800, PMID:31727539 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        neurodegenerative disease 3190
          pontocerebellar hypoplasia 23
            PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL 1
            Pontocerebellar Hypoplasia Type 1 + 7
            Pontocerebellar Hypoplasia Type 11 1
            Pontocerebellar Hypoplasia Type 12 1
            Pontocerebellar Hypoplasia Type 13 1
            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 2
            pontocerebellar hypoplasia type 7 1
            pontocerebellar hypoplasia type 8 1
            pontocerebellar hypoplasia type 9 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            cerebellar disease 448
              pontocerebellar hypoplasia 23
                PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL 1
                Pontocerebellar Hypoplasia Type 1 + 7
                Pontocerebellar Hypoplasia Type 11 1
                Pontocerebellar Hypoplasia Type 12 1
                Pontocerebellar Hypoplasia Type 13 1
                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 2
                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.