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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: PCH;   congenital pontocerebellar hypoplasia
 narrow_synonym: HEATR5B-ASSOCIATED PONTOCEREBELLAR HYPOPLASIA
 primary_id: MESH:C580383
 xref: GARD:10977;   MIM:PS607596


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 Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: 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: 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 Cdc40 cell division cycle 40 ISO ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia ClinVar PMID:33220177 NCBI chr20:44,273,080...44,325,605
Ensembl chr20:44,273,089...44,325,358 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: 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: 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 ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:18414213 PMID:22544365 PMID:23284067 PMID:23975261 PMID:24033266 More... NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29727687 PMID:30125339 PMID:30690203 More... NCBI chr 2:119,416,028...119,426,981
Ensembl chr 2:119,388,715...119,427,051 		JBrowse link
G Heatr5b HEAT repeat containing 5B ISO ClinVar Annotator: match by term: HEATR5B-associated Pontocerebellar hypoplasia ClinVar PMID:25741868 PMID:33824466 NCBI chr 6:16,243,424...16,323,444
Ensembl chr 6:16,243,461...16,323,435 		JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia ClinVar PMID:24033266 PMID:33220177 NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: 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: 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: 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: Pontocerebellar hypoplasia ClinVar PMID:28823707 NCBI chr11:43,303,355...43,361,507
Ensembl chr11:43,303,355...43,361,503 		JBrowse link
G Toe1 target of EGR1, exonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:28092684 NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: 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: 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: 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: 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: Pontocerebellar hypoplasia ClinVar PMID:28492532 NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436 		JBrowse link
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 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 OMIM
ClinVar		 PMID:25741868 PMID:27640307 PMID:29053797 PMID:29053800 PMID:31727539 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482 		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 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436 		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
ISS		 ClinVar Annotator: match by term: CLP1-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 10
OMIM:615803		 OMIM
ClinVar
MouseDO		 PMID:24766809 PMID:24766810 PMID:25741868 PMID:28492532 PMID:29307788 NCBI chr 3:69,806,774...69,818,633
Ensembl chr 3:69,806,778...69,810,421 		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 Annotator: match by term: TBC1D23-related condition OMIM
ClinVar		 PMID:25741868 PMID:28823706 PMID:28823707 NCBI chr11:43,303,355...43,361,507
Ensembl chr11:43,303,355...43,361,503 		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: COASY-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12 OMIM
ClinVar		 PMID:16199547 PMID:24360804 PMID:25741868 PMID:28492532 PMID:30089828 More... NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		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 | ClinVar Annotator: match by term: VPS51-related condition OMIM
ClinVar		 PMID:25741868 PMID:30624672 PMID:31207318 NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430 		JBrowse link
pontocerebellar hypoplasia type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppil1 peptidylprolyl isomerase like 1 ISO
ISS		 OMIM:619301
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14		 OMIM
MouseDO
ClinVar		 PMID:24033266 PMID:25741868 PMID:33220177 NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354 		JBrowse link
pontocerebellar hypoplasia type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc40 cell division cycle 40 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15 OMIM
ClinVar		 PMID:25741868 PMID:33220177 NCBI chr20:44,273,080...44,325,605
Ensembl chr20:44,273,089...44,325,358 		JBrowse link
pontocerebellar hypoplasia type 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 OMIM
ClinVar		 PMID:25741868 PMID:33168985 PMID:33257696 NCBI chr 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730 		JBrowse link
pontocerebellar hypoplasia type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 OMIM
ClinVar		 PMID:35390279 NCBI chr 5:35,220,815...35,232,866
Ensembl chr 5:35,225,435...35,232,881 		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 chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19646678 More... NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436 		JBrowse link
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 ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B OMIM
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 Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29727687 PMID:30125339 PMID:30690203 More... NCBI chr 2:119,416,028...119,426,981
Ensembl chr 2:119,388,715...119,427,051 		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
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: EXOSC8-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C OMIM
ClinVar		 PMID:24989451 PMID:25741868 PMID:28492532 NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928 		JBrowse link
pontocerebellar hypoplasia type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccna2 cyclin A2 ISO ClinVar Annotator: match by term: EXOSC9-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577 		JBrowse link
G Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: EXOSC9-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29727687 PMID:30125339 PMID:30690203 More... NCBI chr 2:119,416,028...119,426,981
Ensembl chr 2:119,388,715...119,427,051 		JBrowse link
pontocerebellar hypoplasia type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E OMIM
ClinVar		 PMID:8147499 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
pontocerebellar hypoplasia type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc1 exosome component 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1F OMIM
ClinVar		 PMID:33463720 NCBI chr 1:240,734,777...240,745,431
Ensembl chr 1:240,734,773...240,745,438 		JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A | ClinVar Annotator: match by term: VOLENDAM NEURODEGENERATIVE DISEASE		 OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2B | ClinVar Annotator: match by term: TSEN2-related condition		 OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2C | ClinVar Annotator: match by term: TSEN34-related condition		 OMIM
CTD
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 Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D ClinVar PMID:25741868 NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
Ensembl chr 2:79,893,548...79,903,438 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D ClinVar PMID:22156789 PMID:25741868 PMID:28492532 PMID:30274917 PMID:30705822 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D | ClinVar Annotator: match by term: SEPSECS-related condition OMIM
ClinVar		 PMID:9536098 PMID:12920088 PMID:16199547 PMID:17576681 PMID:18414213 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 | ClinVar Annotator: match by term: VPS53-related condition OMIM
ClinVar		 PMID:9536098 PMID:12920088 PMID:17576681 PMID:24577744 PMID:25741868 More... 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...64,505,591
Ensembl chr13:64,490,218...64,505,617 		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: PCLO-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12771259 PMID:25741868 PMID:25832664 PMID:28492532 PMID:36474027 More... NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		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: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 4 | ClinVar Annotator: match by term: TSEN54-related condition OMIM
ClinVar		 PMID:9536098 PMID:16470708 PMID:17576681 PMID:17641900 PMID:18414213 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		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: Olivopontocerebellar hypoplasia fetal-onset | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 5 OMIM
ClinVar		 PMID:16470708 PMID:17641900 PMID:18414213 PMID:18711368 PMID:19459882 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		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: Encephalopathy fatal infantile with mitochondrial respiratory chain defects | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6 | ClinVar Annotator: match by term: RARS2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2259581 PMID:2706168 PMID:9536098 PMID:10447505 PMID:16199547 More... NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		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 PMID:25741868 PMID:28492532 NCBI chr 5:49,225,599...49,248,382
Ensembl chr 5:49,225,602...49,248,335 		JBrowse link
pontocerebellar hypoplasia type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 | ClinVar Annotator: match by term: TOE1-related condition ClinVar PMID:18271935 PMID:25741868 PMID:28492532 NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 | ClinVar Annotator: match by term: TOE1-related condition OMIM
ClinVar		 PMID:18271935 PMID:21594990 PMID:25741868 PMID:28092684 PMID:28492532 NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050 		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 term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		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: AMPD2-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 9 OMIM
ClinVar		 PMID:23911318 PMID:25558065 PMID:25741868 PMID:27066553 PMID:28492532 More... NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        neurodegenerative disease 5062
          pontocerebellar hypoplasia 33
            neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1
            pontocerebellar hypoplasia type 1 + 19
            pontocerebellar hypoplasia type 10 1
            pontocerebellar hypoplasia type 11 1
            pontocerebellar hypoplasia type 12 1
            pontocerebellar hypoplasia type 13 1
            pontocerebellar hypoplasia type 14 1
            pontocerebellar hypoplasia type 15 1
            pontocerebellar hypoplasia type 16 1
            pontocerebellar hypoplasia type 17 1
            pontocerebellar hypoplasia type 2 + 8
            pontocerebellar hypoplasia type 3 1
            pontocerebellar hypoplasia type 4 1
            pontocerebellar hypoplasia type 5 1
            pontocerebellar hypoplasia type 6 2
            pontocerebellar hypoplasia type 7 2
            pontocerebellar hypoplasia type 8 1
            pontocerebellar hypoplasia type 9 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            cerebellar disease 1147
              pontocerebellar hypoplasia 33
                neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1
                pontocerebellar hypoplasia type 1 + 19
                pontocerebellar hypoplasia type 10 1
                pontocerebellar hypoplasia type 11 1
                pontocerebellar hypoplasia type 12 1
                pontocerebellar hypoplasia type 13 1
                pontocerebellar hypoplasia type 14 1
                pontocerebellar hypoplasia type 15 1
                pontocerebellar hypoplasia type 16 1
                pontocerebellar hypoplasia type 17 1
                pontocerebellar hypoplasia type 2 + 8
                pontocerebellar hypoplasia type 3 1
                pontocerebellar hypoplasia type 4 1
                pontocerebellar hypoplasia type 5 1
                pontocerebellar hypoplasia type 6 2
                pontocerebellar hypoplasia type 7 2
                pontocerebellar hypoplasia type 8 1
                pontocerebellar hypoplasia type 9 1
paths to the root