Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal pons morphology
go back to main search page
Accession:HP:0007361 term browser browse the term
Definition:A structural abnormality of the pons.
Comment:The pons is the portion of the brainstem superior to the medulla oblongata.
Synonyms:exact_synonym: Abnormality of the pons
 xref: UMLS:C4024905


show annotations for term's descendants           Sort by:
Abnormal pons morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 IAGP HPO ORPHA:370997 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G RANBP2 RAN binding protein 2 susceptibility IAGP DNA:missense mutation:cds:p.T585M RGD PMID:19118815 RGD:9835035 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
Abnormal superior cerebellar peduncle morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
Elongated superior cerebellar peduncle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 IAGP HPO MIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ARL3 ARF like GTPase 3 IAGP HPO PMID:30269812 MIM:618161 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO PMID:34186028 MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO PMID:24360808 MIM:615636 ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO MIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP HPO ORPHA:370022 NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO MIM:609583 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Hot cross bun sign term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTH1 ferritin heavy chain 1 IAGP HPO PMID:37660254 MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
Hypoplasia of the pons term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO PMID:11845408 MIM:606854 ORPHA:101070 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO PMID:30420557 MIM:618276 ORPHA:2254 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO PMID:23911318 MIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO PMID:31585108 MIM:618677 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 IAGP HPO PMID:28453519 MIM:617523 NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO PMID:24139043 PMID:27469131 PMID:28776279 MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ATXN8 ataxin 8 IAGP HPO ORPHA:98760
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO ORPHA:98760 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO PMID:23453667 MIM:615181 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO PMID:25561519 MIM:616202 ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO PMID:19165920 MIM:300749 ORPHA:163937 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:280195 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO PMID:34186028 MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:280195 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO PMID:28250456 MIM:617542 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP HPO PMID:36067010 MIM:620504 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:280195 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:280195 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP HPO PMID:24814191 MIM:615859 ORPHA:411986 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386 		JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO PMID:36528028 MIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G EXOSC1 exosome component 1 IAGP HPO PMID:33463720 MIM:619304 NCBI chr10:97,435,909...97,446,006
Ensembl chr10:97,435,909...97,446,017 		JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Hypoplasia of the pons HPO
ClinVar		 PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... ORPHA:2254 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO ORPHA:2254 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO ORPHA:2254 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280195 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FKRP fukutin related protein IAGP HPO PMID:15121789 MIM:613153 ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:280195 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:280195 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:280195 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO PMID:23768512 MIM:615350 ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GPHN gephyrin IAGP HPO PMID:22040219 MIM:615501 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:613154 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G MAB21L1 mab-21 like 1 IAGP HPO MIM:618479 ORPHA:495875 NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO PMID:30471716 MIM:618325 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:25754315 MIM:616430 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MDH1 malate dehydrogenase 1 IAGP HPO PMID:31538237 MIM:618959 NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197 		JBrowse link
G MED23 mediator complex subunit 23 IAGP HPO PMID:25845469 MIM:614249 NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO PMID:33257696 MIM:619527 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:280195 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO PMID:25832664 MIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO PMID:30564627 PMID:35880319 MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO PMID:34415310 MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO PMID:33410539 MIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO PMID:25344692 MIM:616171 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:613151 ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370959 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO PMID:33220177 MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803 		JBrowse link
G PRDM13 PR/SET domain 13 IAGP HPO PMID:35390279 MIM:619909 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:280195 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:101070 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RELN reelin IAGP HPO PMID:10973257 MIM:257320 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO PMID:27087320 MIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO PMID:30692597 MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G ROBO3 roundabout guidance receptor 3 IAGP HPO PMID:16525029 MIM:607313 NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO PMID:32710489 MIM:620155 MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:280195 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:280195 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO PMID:27543974 MIM:619303 ORPHA:2254 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP HPO PMID:27904971 MIM:618973 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO PMID:32694869 MIM:619293 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:280195 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G TBC1D23 TBC1 domain family member 23 IAGP HPO PMID:28823707 MIM:617695 NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:280195 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO PMID:28092684 MIM:614969 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO PMID:28777934 MIM:617669 ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO PMID:27392077 MIM:617026 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO PMID:20956791 MIM:225753 MIM:277470 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:467166 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 ORPHA:467166 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:467166 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP HPO PMID:30624672 MIM:618606 NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO PMID:19646678 PMID:24126608 PMID:30847374 PMID:31090908 PMID:31837156 MIM:607596 MIM:620542 ORPHA:2254 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO MIM:615220 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G ZIC1 Zic family member 1 IAGP HPO PMID:26340333 MIM:618736 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:280195 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Hypoplasia of the ventral pons term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO MIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
Olivopontocerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 IAGP HPO ORPHA:98756 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G LOC112533671 Sharpr-MPRA regulatory region 12010 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:18414213 NCBI chr17:75,516,308...75,516,766 JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO MIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370959 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar
HPO		 PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... MIM:610204 ORPHA:166063 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Pontine T2 hypointensity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone IAGP HPO PMID:23497566 MIM:270550 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
Pontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC88C coiled-coil domain containing 88C IAGP HPO PMID:25062847 MIM:616053 ORPHA:423275 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO PMID:29100083 MIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO PMID:37054711 MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G RORA RAR related orphan receptor A IAGP HPO PMID:29656859 MIM:618060 NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302 		JBrowse link
G SETX senataxin IAGP HPO MIM:606002 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A IAGP HPO PMID:33186545 MIM:619273 NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939 		JBrowse link
Thickened superior cerebellar peduncle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP HPO MIM:610188 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO PMID:15138899 MIM:609583 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO PMID:17160906 MIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the nervous system 34791
        Abnormal nervous system morphology 9756
          Morphological central nervous system abnormality 9638
            Abnormal brain morphology 4362
              Abnormal brainstem morphology 292
                Abnormal pons morphology 121
                  Abnormal superior cerebellar peduncle morphology + 12
                  Hot cross bun sign 1
                  Hypoplasia of the pons + 94
                  Pontine T2 hypointensity 1
                  Pontine ischemic lacunes 0
                  Pontine tegmental cap 0
                  Pontocerebellar atrophy 9
                  Punctate pontine perivascular enhancement 0
                  Superior olive hypertrophy 0
Path 2
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the nervous system 34791
        Abnormal nervous system morphology 9756
          Morphological central nervous system abnormality 9638
            Abnormal brain morphology 4362
              Abnormal hindbrain morphology 1122
                Abnormal metencephalon morphology 1122
                  Abnormal pons morphology 121
                    Abnormal superior cerebellar peduncle morphology + 12
                    Hot cross bun sign 1
                    Hypoplasia of the pons + 94
                    Pontine T2 hypointensity 1
                    Pontine ischemic lacunes 0
                    Pontine tegmental cap 0
                    Pontocerebellar atrophy 9
                    Punctate pontine perivascular enhancement 0
                    Superior olive hypertrophy 0
paths to the root