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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:Abnormality of the wrist
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Accession:HP:0003019 term browser browse the term
Definition:Abnormality of the wrist, the structure connecting the hand and the forearm.
Synonyms:exact_synonym: Abnormalities of the wrists
 alt_id: HP:0001224
 xref: UMLS:C4021744



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Abnormality of the wrist term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP ORPHA:85408 HPO NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ORPHA:333 HPO NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP ORPHA:529962 HPO NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G CD247 CD247 molecule IAGP ORPHA:85408 HPO NCBI chr 1:167,430,640...167,518,542
Ensembl chr 1:167,430,640...167,518,610
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93316 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ORPHA:89843 HPO NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ORPHA:85408 HPO NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP ORPHA:85408 HPO NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,125,843...37,175,054
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:2378 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP ORPHA:529962 HPO NCBI chr17:67,337,916...67,366,598
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:744 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP ORPHA:85408 HPO NCBI chr18:12,785,478...12,884,351
Ensembl chr18:12,785,478...12,929,643
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:85408 HPO NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:85408 HPO NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TBX3 T-box transcription factor 3 IAGP ORPHA:3138 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
Abnormal calcification of the carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ORPHA:51608 HPO NCBI chr16:16,149,565...16,223,617
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ORPHA:51608 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Abnormality of the carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:85166 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:216100 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G NIN ninein IAGP OMIM:614851 ORPHA:319675 HPO NCBI chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
JBrowse link
G PITX1 paired like homeodomain 1 IAGP OMIM:186550 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:1225 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 ORPHA:240 ORPHA:2632 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G TBX5 T-box transcription factor 5 IAGP OMIM:142900 HPO NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
Abnormality of the scaphoid term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP ORPHA:93321 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:93321 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
Abnormality of the trapezium term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP ORPHA:93321 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:93321 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
Abnormally shaped carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 ORPHA:968 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G KIF22 kinesin family member 22 IAGP ORPHA:93360 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
Absent scaphoid term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 IAGP OMIM:617247 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Accessory carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP OMIM:311300 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP OMIM:150250 ORPHA:503 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Advanced ossification of carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP OMIM:271640 OMIM:615349 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP OMIM:617719 HPO NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:215045 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP OMIM:616831 HPO NCBI chr 3:47,016,431...47,164,113
Ensembl chr 3:47,016,429...47,164,113
JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP OMIM:618363 HPO NCBI chr 4:146,253,981...146,522,351
Ensembl chr 4:146,253,975...146,521,964
JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP OMIM:269250 HPO NCBI chr 1:66,999,350...67,054,423
Ensembl chr 1:66,999,350...67,054,148
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP OMIM:615777 HPO NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
Aplasia/Hypoplasia involving the carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7A Wnt family member 7A IAGP OMIM:276820 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Bilateral wrist flexion contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:97297 HPO NCBI chr20:32,358,062...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:209951 HPO NCBI chr 8:37,736,627...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
Broad carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP ORPHA:239 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
Capitate-hamate fusion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP OMIM:304150 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:289 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP OMIM:225500 ORPHA:289 HPO NCBI chr 4:5,711,199...5,829,043
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP OMIM:225500 ORPHA:289 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:602849 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP OMIM:311300 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP OMIM:272460 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
Carpal bone aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:276820 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Carpal bone hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP OMIM:601162 HPO NCBI chr10:95,605,938...95,656,901
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G DYM dymeclin IAGP OMIM:223800 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G EXOC6B exocyst complex component 6B IAGP OMIM:618395 HPO NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP OMIM:252500 OMIM:252600 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G NANS N-acetylneuraminate synthase IAGP OMIM:610442 HPO NCBI chr 9:98,056,728...98,083,083
Ensembl chr 9:98,056,732...98,083,077
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,917,714...145,927,678
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Carpal osteolysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B IAGP OMIM:166300 ORPHA:2774
ClinVar Annotator: match by term: Carpal osteolysis
HPO
ClinVar
NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP ORPHA:371428 HPO NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP OMIM:259600 ORPHA:371428 HPO NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
Carpal synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP OMIM:271640 OMIM:615349 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:609441 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP OMIM:605282 HPO NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G FBLN1 fibulin 1 IAGP OMIM:608180 HPO NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:53271 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNB filamin B IAGP OMIM:272460 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:610017 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP OMIM:157800 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G MYH3 myosin heavy chain 3 IAGP OMIM:178110 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NOG noggin IAGP OMIM:185800 OMIM:186500 OMIM:186570 OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PAX3 paired box 3 IAGP OMIM:148820 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP OMIM:201750 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,917,714...145,927,678
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
Crowded carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 IAGP OMIM:102500 HPO NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
Delayed ossification of carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93346 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP OMIM:617425 HPO NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,755,599
JBrowse link
G HOXA13 homeobox A13 IAGP OMIM:140000 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP OMIM:600373 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:607078 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 IAGP OMIM:618392 HPO NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP OMIM:239300 HPO NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:600002 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:607095 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP OMIM:271510 HPO NCBI chr 8:144,428,775...144,444,488
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP OMIM:617974 HPO NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
Dislocated wrist term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP ORPHA:536532 HPO NCBI chr 7:44,104,320...44,114,564
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G FLNB filamin B IAGP OMIM:150250 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Enlargement of the wrists term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ORPHA:83629 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP OMIM:300009 OMIM:300554 HPO NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 ORPHA:289157 HPO NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP OMIM:600081 ORPHA:289157 HPO NCBI chr11:14,877,440...14,898,915
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP ORPHA:289176 HPO NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ORPHA:289176 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP OMIM:241530 HPO NCBI chr 9:137,230,757...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
G VDR vitamin D receptor IAGP OMIM:277440 HPO NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Irregular carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP OMIM:252600 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
Limited wrist extension term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP ORPHA:98915 HPO NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ORPHA:602 HPO NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ORPHA:98915 HPO NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:437572 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:108145 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
JBrowse link
Limited wrist movement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ORPHA:576 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G LMNA lamin A/C IAGP ORPHA:740 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ORPHA:67036 HPO NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,427...45,602,212
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 ORPHA:240 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP ORPHA:93284 HPO NCBI chr  X:13,712,243...13,734,633
Ensembl chr  X:13,712,244...13,734,635
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:740 HPO NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Madelung deformity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ORPHA:2710 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G NIN ninein IAGP OMIM:614851 ORPHA:319675 HPO NCBI chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 OMIM:249700 ORPHA:240 ORPHA:2632 ORPHA:314795 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
Malaligned carpal bone term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:228900 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Multiple carpal ossification centers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G FLNB filamin B IAGP OMIM:150250 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Partial fusion of carpals term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP OMIM:305620 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
Severe carpal ossification delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:184252 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Stippled calcification in carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP OMIM:302960 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP ORPHA:60025 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Synostosis of carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ORPHA:3258 HPO NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:157801 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2098 ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:289 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP ORPHA:3103 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:289 HPO NCBI chr 4:5,711,199...5,829,043
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:289 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101200 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLNA filamin A IAGP OMIM:311300 ORPHA:90650 ORPHA:90652 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2098 ORPHA:2639 ORPHA:3250 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G HOXA13 homeobox A13 IAGP ORPHA:2438 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:3258 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP ORPHA:1275 HPO NCBI chr 5:135,334,381...135,401,998
Ensembl chr 5:135,333,900...135,399,914
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:3238 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G NOG noggin IAGP ORPHA:140908 ORPHA:3250 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NXN nucleoredoxin IAGP ORPHA:1507 HPO NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G PAX3 paired box 3 IAGP ORPHA:896 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ORPHA:1275 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ORPHA:1507 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:2307 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP ORPHA:1106 HPO NCBI chr14:69,879,388...70,032,366
Ensembl chr14:69,854,131...70,032,366
JBrowse link
Two carpal ossification centers present at birth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,616
Ensembl chr  X:133,535,745...133,985,594
JBrowse link
G GPC4 glypican 4 IAGP OMIM:312870 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
Ulnar deviation of the wrist term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP ORPHA:79324 HPO NCBI chr22:49,860,163...49,918,469
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP OMIM:605039 HPO NCBI chr20:32,358,062...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G FLNB filamin B IAGP ORPHA:56305 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP OMIM:253000 HPO NCBI chr16:88,813,734...88,856,966
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G GLB1 galactosidase beta 1 IAGP OMIM:253010 HPO NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP OMIM:619501 HPO NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
JBrowse link
G KLHL7 kelch like family member 7 IAGP ClinVar Annotator: match by term: Ulnar deviation of the wrist ClinVar PMID:18414213 PMID:25741868 PMID:29074562 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ORPHA:1147 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NALCN sodium leak channel, non-selective IAGP ORPHA:1147 HPO NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G PAX3 paired box 3 IAGP ORPHA:1529 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G RAC3 Rac family small GTPase 3 IAGP OMIM:618577 HPO NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP OMIM:601680 ORPHA:1147
ClinVar Annotator: match by term: Ulnar deviation of wrists
HPO
ClinVar
PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP OMIM:618435 ORPHA:1147 HPO NCBI chr11:1,919,551...1,938,704
Ensembl chr11:1,919,703...1,938,706
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:1147 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
Wrist flexion contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP OMIM:231050 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G ANO5 anoctamin 5 IAGP ORPHA:206549 HPO NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G CAPN3 calpain 3 IAGP ORPHA:267 HPO NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP ORPHA:610 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ORPHA:610 HPO NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ORPHA:610 HPO NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ORPHA:610 HPO NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:618175 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DHX16 DEAH-box helicase 16 IAGP OMIM:618733 HPO NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:254528 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ORPHA:1143 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,683
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 ORPHA:3103 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FBN2 fibrillin 2 IAGP OMIM:121050 HPO NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP OMIM:300055 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:254528 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP OMIM:259600 HPO NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MYH3 myosin heavy chain 3 IAGP OMIM:193700 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYLPF myosin light chain, phosphorylatable, fast skeletal muscle IAGP OMIM:619110 HPO NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991
JBrowse link
G PRG4 proteoglycan 4 IAGP OMIM:208250 HPO NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:254528 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,046...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP OMIM:600638 HPO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
Wrist swelling term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP ORPHA:1159 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP OMIM:166300 ORPHA:2774 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP OMIM:309000 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13461
    Phenotypic abnormality 13458
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Abnormality of upper limb joint 497
            Abnormality of the wrist 147
              Abnormality of the carpal bones + 82
              Decreased carpal angles of wrist 0
              Dislocated wrist 2
              Enlargement of the wrists 8
              Limited wrist movement + 14
              Madelung deformity 4
              Narrow joint spaces of wrist 0
              Ulnar deviation of the wrist 19
              Wrist flexion contracture + 27
              Wrist ganglion 0
              Wrist swelling 3
Path 2
Term Annotations click to browse term
  Human phenotype 13461
    Phenotypic abnormality 13458
      Abnormality of the musculoskeletal system 3905
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal joint morphology 1154
              Abnormality of upper limb joint 497
                Abnormality of the wrist 147
                  Abnormality of the carpal bones + 82
                  Decreased carpal angles of wrist 0
                  Dislocated wrist 2
                  Enlargement of the wrists 8
                  Limited wrist movement + 14
                  Madelung deformity 4
                  Narrow joint spaces of wrist 0
                  Ulnar deviation of the wrist 19
                  Wrist flexion contracture + 27
                  Wrist ganglion 0
                  Wrist swelling 3
paths to the root