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ONTOLOGY REPORT - ANNOTATIONS


Term:osteochondrodysplasia
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Accession:DOID:2256 term browser browse the term
Definition:Abnormal development of cartilage and bone.
Synonyms:exact_synonym: Congenital anomaly of cartilage;   Dyschondroplasia;   Dyschondroplasias;   Late Onset Spondyloepiphyseal Dysplasia;   Late Spondyloepiphyseal Dysplasia;   MNS;   Melnick Needles Osteodysplasty;   Melnick Needles Syndrome;   Multiple Epiphyseal Dysplasia;   Myotonic Chondrodystrophy;   Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities;   Osteochondrodysplasia syndrome;   Osteodysplasty of Melnick and Needles;   SJA Syndrome;   Sost Sclerosing Bone Dysplasia;   Spondylo-Epimetaphyseal Dysplasia With Myotonia;   cartilage development disorder;   chondrodystrophic myotonia;   chondrodystrophy;   osteochondrodysplasias;   spondyloepiphyseal dysplasia
 narrow_synonym: chondrodysplasia;   chondrodysplasia, disproportionate short-limbed
 broad_synonym: TRIP11-related condition
 primary_id: MESH:D010009
 alt_id: OMIA:000187;   OMIA:001315;   OMIA:001886;   OMIM:184260;   RDO:0000496
 xref: ICD10CM:Q78.9;   ICD9CM:756.4;   NCI:C34466;   NCI:C84978
For additional species annotation, visit the Alliance of Genome Resources.


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osteochondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 86,733,853 86,771,420 RGD:9068941
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 2B 179,799,362 179,895,007 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 18 59,797,184 59,993,298 RGD:9068941
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:9068941
G CHST11 carbohydrate sulfotransferase 11 JBrowse link 12 105,730,321 105,735,380 RGD:9068941
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:9068941
G COL10A1 collagen type X alpha 1 chain JBrowse link 6 118,067,477 118,074,684 RGD:9068941
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G COL9A1 collagen type IX alpha 1 chain JBrowse link 6 71,349,471 71,436,370 RGD:9068941
G COL9A2 collagen type IX alpha 2 chain JBrowse link 1 40,918,814 40,935,953 RGD:9068941
G COL9A3 collagen type IX alpha 3 chain JBrowse link 20 60,496,269 60,522,232 RGD:9068941
G COMP cartilage oligomeric matrix protein JBrowse link 19 19,229,420 19,238,053 RGD:9068941
G DLL3 delta like canonical Notch ligand 3 JBrowse link 19 45,144,641 45,154,854 RGD:9068941
G DYM dymeclin JBrowse link 18 45,780,831 46,179,616 RGD:9068941
G FLNA filamin A RGD:9068941
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:9068941
G FLT1 fms related tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:9068941
G GLB1 galactosidase beta 1 JBrowse link 3 33,231,208 33,336,804 RGD:9068941
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,979,504 22,053,395 RGD:9068941
G IMPAD1 inositol monophosphatase domain containing 1 JBrowse link 8 50,753,792 50,785,055 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G LIFR LIF receptor subunit alpha JBrowse link 5 76,878,633 76,934,893 RGD:9068941
G MATN3 matrilin 3 JBrowse link 2A 20,095,710 20,116,015 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 RGD:9068941
G PTH1R parathyroid hormone 1 receptor JBrowse link 3 47,882,369 47,905,573 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
G SOST sclerostin JBrowse link 17 13,804,374 13,809,432 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 1 198,758,718 198,856,853 RGD:9068941
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 9 98,337,417 98,362,748 RGD:9068941
G TRAPPC2 trafficking protein particle complex 2 JBrowse link X 13,609,852 13,629,926 RGD:9068941
G TRIP11 thyroid hormone receptor interactor 11 JBrowse link 14 91,945,392 92,019,231 RGD:9068941
RGD:7240710
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 114,626,357 114,854,222 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMBR1 limb development membrane protein 1 JBrowse link 7 159,995,236 160,151,025 RGD:7240710
RGD:9068941
achondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
G TRIP11 thyroid hormone receptor interactor 11 JBrowse link 14 91,945,392 92,019,231 RGD:9068941
achondrogenesis type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRIP11 thyroid hormone receptor interactor 11 JBrowse link 14 91,945,392 92,019,231 RGD:7240710
RGD:9068941
achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:7240710
RGD:9068941
achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
achondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 86,733,853 86,771,420 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G PTHLH parathyroid hormone like hormone JBrowse link 12 60,959,327 60,973,749 RGD:9068941
G SPRED2 sprouty related EVH1 domain containing 2 JBrowse link 2A 66,503,260 66,624,840 RGD:9068941
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IHH Indian hedgehog signaling molecule JBrowse link 2B 224,905,488 224,917,887 RGD:7240710
RGD:9068941
acrodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM20A FAM20A golgi associated secretory pathway pseudokinase JBrowse link 17 67,863,696 67,927,152 RGD:9068941
G PDE4D phosphodiesterase 4D JBrowse link 5 55,749,248 56,675,724 RGD:9068941
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 17 67,838,484 67,859,610 RGD:9068941
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM20A FAM20A golgi associated secretory pathway pseudokinase JBrowse link 17 67,863,696 67,927,152 RGD:9068941
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 17 67,838,484 67,859,610 RGD:7240710
RGD:9068941
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DEPDC1B DEP domain containing 1B JBrowse link 5 54,940,401 55,046,660 RGD:9068941
G PDE4D phosphodiesterase 4D JBrowse link 5 55,749,248 56,675,724 RGD:7240710
RGD:9068941
acromesomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G SPAG8 sperm associated antigen 8 JBrowse link 9 36,460,951 36,465,112 RGD:9068941
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:7240710
RGD:9068941
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:7240710
RGD:9068941
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:9068941
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:7240710
RGD:9068941
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:7240710
RGD:9068941
G SPAG8 sperm associated antigen 8 JBrowse link 9 36,460,951 36,465,112 RGD:9068941
acromicric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:7240710
RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 18 44,572,213 44,669,008 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 RGD:9068941
anauxetic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGEF39 Rho guanine nucleotide exchange factor 39 JBrowse link 9 36,313,296 36,319,732 RGD:9068941
G C9H9orf131 chromosome 9 C9orf131 homolog JBrowse link 9 35,698,610 35,702,395 RGD:9068941
G CA9 carbonic anhydrase 9 JBrowse link 9 36,328,205 36,335,474 RGD:9068941
G CCDC107 coiled-coil domain containing 107 JBrowse link 9 36,312,688 36,315,926 RGD:9068941
G CCIN calicin JBrowse link 9 36,815,577 36,822,204 RGD:9068941
G CCL19 C-C motif chemokine ligand 19 JBrowse link 9 35,334,353 35,336,108 RGD:9068941
G CCL21 C-C motif chemokine ligand 21 JBrowse link 9 35,353,768 35,354,924 RGD:9068941
G CCL27 C-C motif chemokine ligand 27 JBrowse link 9 35,307,155 35,308,381 RGD:9068941
G CD72 CD72 molecule JBrowse link 9 36,264,494 36,272,952 RGD:9068941
G CLTA clathrin light chain A JBrowse link 9 36,841,477 36,862,528 RGD:9068941
G CREB3 cAMP responsive element binding protein 3 JBrowse link 9 36,385,867 36,390,540 RGD:9068941
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 9 35,643,056 35,651,879 RGD:9068941
G FAM166B family with sequence similarity 166 member B JBrowse link 9 36,216,030 36,247,009 RGD:9068941
G FAM205A family with sequence similarity 205 member A JBrowse link 9 35,367,419 35,373,899 RGD:9068941
G FAM205C family with sequence similarity 205 member C JBrowse link 9 35,545,038 35,551,746 RGD:9068941
G FAM214B family with sequence similarity 214 member B JBrowse link 9 35,760,019 35,772,033 RGD:9068941
G FAM221B family with sequence similarity 221 member B JBrowse link 9 36,471,284 36,481,503 RGD:9068941
G FANCG FA complementation group G JBrowse link 9 35,730,176 35,736,648 RGD:9068941
G GALT galactose-1-phosphate uridylyltransferase JBrowse link 9 35,291,695 35,295,835 RGD:9068941
G GBA2 glucosylceramidase beta 2 JBrowse link 9 36,390,407 36,402,949 RGD:9068941
G GLIPR2 GLI pathogenesis related 2 JBrowse link 9 36,787,649 36,814,812 RGD:9068941
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 9 36,867,094 36,908,212 RGD:9068941
G HINT2 histidine triad nucleotide binding protein 2 JBrowse link 9 36,465,806 36,468,325 RGD:9068941
G HRCT1 histidine rich carboxyl terminus 1 JBrowse link 9 36,558,786 36,559,868 RGD:9068941
G IL11RA interleukin 11 receptor subunit alpha JBrowse link 9 35,297,316 35,307,159 RGD:9068941
G LOC100981170 olfactory receptor 13J1 JBrowse link 9 36,522,294 36,523,368 RGD:9068941
G MSMP microseminoprotein, prostate associated JBrowse link 9 36,406,679 36,407,845 RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G PHF24 PHD finger protein 24 JBrowse link 9 35,310,959 35,635,964 RGD:9068941
G PIGO phosphatidylinositol glycan anchor biosynthesis class O JBrowse link 9 35,744,664 35,752,522 RGD:9068941
G POP1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 8 96,938,574 96,980,896 RGD:9068941
G RECK reversion inducing cysteine rich protein with kazal motifs JBrowse link 9 36,703,607 36,775,516 RGD:9068941
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 9 36,402,999 36,411,625 RGD:9068941
G RUSC2 RUN and SH3 domain containing 2 JBrowse link 9 36,175,130 36,216,093 RGD:9068941
G SIT1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 9 36,303,675 36,305,328 RGD:9068941
G SPAAR small regulatory polypeptide of amino acid response JBrowse link 9 36,561,412 36,564,351 RGD:9068941
G SPAG8 sperm associated antigen 8 JBrowse link 9 36,460,951 36,465,112 RGD:9068941
G STOML2 stomatin like 2 JBrowse link 9 35,755,790 35,759,091 RGD:9068941
G TESK1 testis associated actin remodelling kinase 1 JBrowse link 9 36,260,165 36,264,545 RGD:9068941
G TLN1 talin 1 JBrowse link 9 36,351,836 36,379,228 RGD:9068941
G TMEM8B transmembrane protein 8B JBrowse link 9 36,478,735 36,507,303 RGD:9068941
G TPM2 tropomyosin 2 JBrowse link 9 36,336,307 36,345,394 RGD:9068941
G UNC13B unc-13 homolog B JBrowse link 9 35,817,353 36,059,895 RGD:9068941
G VCP valosin containing protein JBrowse link 9 35,712,937 35,729,588 RGD:9068941
Anauxetic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POP1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 8 96,938,574 96,980,896 RGD:9068941
RGD:7240710
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:7240710
RGD:9068941
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9D1 B9 domain containing 1 JBrowse link 17 36,914,964 36,943,949 RGD:9068941
G C2CD3 C2 domain containing 3 centriole elongation regulator JBrowse link 11 72,392,606 72,551,620 RGD:9068941
G CEP120 centrosomal protein 120 JBrowse link 5 124,514,996 124,593,259 RGD:9068941
G CILK1 ciliogenesis associated kinase 1 JBrowse link 6 54,198,594 54,255,449 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2A 44,706,777 44,760,757 RGD:9068941
G EVC EvC ciliary complex subunit 1 JBrowse link 4 5,790,437 5,892,283 RGD:9068941
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,635,151 5,782,657 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G FLVCR1 FLVCR heme transporter 1 JBrowse link 1 193,284,158 193,321,962 RGD:9068941
G FUZ fuzzy planar cell polarity protein JBrowse link 19 55,736,325 55,742,589 RGD:9068941
G IFT140 intraflagellar transport 140 JBrowse link 16 1,566,309 1,662,833 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 2A 27,536,534 27,580,406 RGD:9068941
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:9068941
G IFT52 intraflagellar transport 52 JBrowse link 20 41,023,517 41,080,500 RGD:9068941
G IFT74 intraflagellar transport 74 JBrowse link 9 27,409,962 27,514,756 RGD:9068941
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:9068941
G IFT81 intraflagellar transport 81 JBrowse link 12 111,093,661 111,186,786 RGD:9068941
G IFT88 intraflagellar transport 88 JBrowse link 13 20,205,881 20,331,204 RGD:9068941
G INTU inturned planar cell polarity protein JBrowse link 4 131,109,630 131,186,930 RGD:9068941
G KIAA0586 KIAA0586 ortholog JBrowse link 14 57,287,138 57,405,914 RGD:9068941
G KIAA0753 KIAA0753 ortholog JBrowse link 17 6,603,983 6,666,231 RGD:9068941
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 RGD:9068941
G MATN3 matrilin 3 JBrowse link 2A 20,095,710 20,116,015 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G SLTM SAFB like transcription modulator JBrowse link 15 56,157,515 56,211,801 RGD:9068941
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 JBrowse link 4 97,240,372 97,324,366 RGD:9068941
G TCTEX1D2 Tctex1 domain containing 2 JBrowse link 3 203,580,040 203,607,193 RGD:9068941
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2B 244,404,777 244,481,785 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:9068941
G WDR34 WD repeat domain 34 JBrowse link 9 128,422,958 128,447,444 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:9068941
G WDR60 WD repeat domain 60 JBrowse link 7 162,142,751 162,219,783 RGD:9068941
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG5 ATP binding cassette subfamily G member 5 JBrowse link 2A 44,745,183 44,771,012 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2A 44,706,777 44,760,757 RGD:9068941
G IFT140 intraflagellar transport 140 JBrowse link 16 1,566,309 1,662,833 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:9068941
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:7240710
RGD:9068941
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:7240710
RGD:9068941
G FAM98C family with sequence similarity 98 member C JBrowse link 19 44,068,957 44,074,586 RGD:9068941
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G TCTEX1D2 Tctex1 domain containing 2 JBrowse link 3 203,580,040 203,607,193 RGD:9068941
G TMEM256 transmembrane protein 256 JBrowse link 17 7,423,648 7,424,799 RGD:9068941
G WDR34 WD repeat domain 34 JBrowse link 9 128,422,958 128,447,444 RGD:9068941
G WDR60 WD repeat domain 60 JBrowse link 7 162,142,751 162,219,783 RGD:9068941
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:7240710
RGD:9068941
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:7240710
RGD:9068941
atelosteogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
Atelosteogenesis Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941
Atelosteogenesis Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:7240710
RGD:9068941
Atelosteogenesis Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941
Autosomal Dominant Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKH ANKH inorganic pyrophosphate transport regulator JBrowse link 5 14,849,497 15,015,206 RGD:7240710
RGD:9068941
G OTULIN OTU deubiquitinase with linear linkage specificity JBrowse link 5 14,810,187 14,857,597 RGD:9068941
autosomal dominant endosteal hyperostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:7240710
RGD:9068941
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:7240710
RGD:9068941
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,498,432 1,518,783 RGD:7240710
RGD:9068941
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEKHM1 pleckstrin homology and RUN domain containing M1 JBrowse link 17 12,011,518 12,063,912 RGD:9068941
RGD:7240710
Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC154 coiled-coil domain containing 154 JBrowse link 16 1,488,751 1,498,392 RGD:9068941
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 JBrowse link 11 66,429,435 66,441,327 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFSF11 TNF superfamily member 11 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CA2 carbonic anhydrase 2 JBrowse link 8 83,601,163 83,618,327 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,498,432 1,518,783 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OSTM1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 6 109,705,522 109,738,691 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEKHM1 pleckstrin homology and RUN domain containing M1 JBrowse link 17 12,011,518 12,063,912 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 18 59,032,727 59,075,044 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNX10 sorting nexin 10 JBrowse link 7 26,537,519 26,618,862 RGD:7240710
RGD:9068941
Beemer-Langer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:9068941
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,635,151 5,782,657 RGD:9068941
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:9068941
Beukes hip dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C4H4orf47 chromosome 4 C4orf47 homolog JBrowse link 4 189,805,849 189,828,919 RGD:9068941
G UFSP2 UFM1 specific peptidase 2 JBrowse link 4 189,779,242 189,805,572 RGD:7240710
RGD:9068941
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941
brachyolmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LTBP3 latent transforming growth factor beta binding protein 3 JBrowse link 11 64,233,504 64,252,797 RGD:9068941
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 10 87,890,631 87,977,839 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
Brachyolmia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
Brachyolmia Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:7240710
RGD:9068941
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LTBP3 latent transforming growth factor beta binding protein 3 JBrowse link 11 64,233,504 64,252,797 RGD:7240710
RGD:9068941
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CSF1R colony stimulating factor 1 receptor JBrowse link 5 151,483,948 151,543,128 RGD:7240710
RGD:9068941
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:9068941
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 JBrowse link 3 150,675,423 150,764,939 RGD:9068941
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:7240710
RGD:9068941
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 JBrowse link 3 150,675,423 150,764,939 RGD:7240710
RGD:9068941
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G LEMD3 LEM domain containing 3 JBrowse link 12 24,172,749 24,251,533 RGD:7240710
RGD:9068941
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4GALT alpha 1,4-galactosyltransferase (P blood group) JBrowse link 22 41,738,285 41,765,283 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
campomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX9 SRY-box transcription factor 9 JBrowse link 17 71,491,419 71,498,911 RGD:7240710
RGD:9068941
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX9 SRY-box transcription factor 9 JBrowse link 17 71,491,419 71,498,911 RGD:9068941
Camurati-Engelmann disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:7240710
RGD:9068941
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,248,761 133,259,631 RGD:9068941
RGD:7240710
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 1 200,703,860 200,756,849 RGD:7240710
RGD:9068941
Catel Manzke Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGDS TDP-glucose 4,6-dehydratase JBrowse link 13 94,903,511 94,925,637 RGD:7240710
RGD:9068941
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR3B RNA polymerase III subunit B JBrowse link 12 107,330,315 107,477,279 RGD:9068941
cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SH3BP2 SH3 domain binding protein 2 JBrowse link 4 2,838,521 2,882,265 RGD:7240710
RGD:9068941
chondrodysplasia Blomstrand type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTH1R parathyroid hormone 1 receptor JBrowse link 3 47,882,369 47,905,573 RGD:9068941
RGD:7240710
chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARSL arylsulfatase L JBrowse link X 2,886,341 2,919,343 RGD:9068941
G EBP EBP cholestenol delta-isomerase JBrowse link X 48,683,531 48,690,829 RGD:9068941
Chondrodysplasia with Joint Dislocations, GPAPP Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IMPAD1 inositol monophosphatase domain containing 1 JBrowse link 8 50,753,792 50,785,055 RGD:7240710
RGD:9068941
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HDAC6 histone deacetylase 6 JBrowse link X 48,960,181 48,982,648 RGD:7240710
RGD:9068941
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAM16 presequence translocase associated motor 16 JBrowse link 16 4,421,899 4,445,761 RGD:7240710
RGD:9068941
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HHAT hedgehog acyltransferase JBrowse link 1 190,755,249 191,100,284 RGD:9068941
cleidocranial dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF146 ring finger protein 146 JBrowse link 6 129,170,440 129,192,602 RGD:9068941
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:7240710
RGD:9068941
G SUPT3H SPT3 homolog, SAGA and STAGA complex component JBrowse link 6 45,687,038 46,239,155 RGD:9068941
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:9068941
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:9068941
CODAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LONP1 lon peptidase 1, mitochondrial JBrowse link 19 5,644,525 5,670,956 RGD:7240710
RGD:9068941
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4HB prolyl 4-hydroxylase subunit beta JBrowse link 17 81,950,826 81,968,329 RGD:9068941
G SEC24D SEC24 homolog D, COPII coat complex component JBrowse link 4 121,468,914 121,584,647 RGD:9068941
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4HB prolyl 4-hydroxylase subunit beta JBrowse link 17 81,950,826 81,968,329 RGD:7240710
RGD:9068941
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SEC24D SEC24 homolog D, COPII coat complex component JBrowse link 4 121,468,914 121,584,647 RGD:7240710
RGD:9068941
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
RGD:7240710
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACP5 acid phosphatase 5, tartrate resistant JBrowse link 19 11,832,575 11,836,881 RGD:7240710
RGD:9068941
G ZNF627 zinc finger protein 627 JBrowse link 19 11,816,692 11,875,349 RGD:9068941
Craniodiaphyseal Dysplasia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOST sclerostin JBrowse link 17 13,804,374 13,809,432 RGD:7240710
RGD:9068941
craniometaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKH ANKH inorganic pyrophosphate transport regulator JBrowse link 5 14,849,497 15,015,206 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:9068941
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:9068941
G OTULIN OTU deubiquitinase with linear linkage specificity JBrowse link 5 14,810,187 14,857,597 RGD:9068941
G SOST sclerostin JBrowse link 17 13,804,374 13,809,432 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:9068941
Czech Dysplasia, Metatarsal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Desbuquois dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CANT1 calcium activated nucleotidase 1 JBrowse link 17 78,612,406 78,626,174 RGD:9068941
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,216,072 17,480,036 RGD:9068941
Desbuquois Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CANT1 calcium activated nucleotidase 1 JBrowse link 17 78,612,406 78,626,174 RGD:7240710
RGD:9068941
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,216,072 17,480,036 RGD:9068941
Desbuquois Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,216,072 17,480,036 RGD:7240710
RGD:9068941
diastrophic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:7240710
RGD:9068941
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYM dymeclin JBrowse link 18 45,780,831 46,179,616 RGD:7240710
RGD:9068941
Eiken Skeletal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTH1R parathyroid hormone 1 receptor JBrowse link 3 47,882,369 47,905,573 RGD:9068941
RGD:7240710
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC39 coiled-coil domain containing 39 JBrowse link 3 185,811,581 185,878,362 RGD:9068941
G EVC EvC ciliary complex subunit 1 JBrowse link 4 5,790,437 5,892,283 RGD:7240710
RGD:9068941
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,635,151 5,782,657 RGD:7240710
RGD:9068941
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2B 244,404,777 244,481,785 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:9068941
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:7240710
RGD:9068941
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:7240710
RGD:9068941
Fibrous Dysplasia of Bone term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 14 74,676,316 74,679,766 RGD:9068941
G TRIM37 tripartite motif containing 37 JBrowse link 17 57,904,813 58,027,160 RGD:9068941
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 JBrowse link 6 91,664,263 91,737,468 RGD:9068941
Frontometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:9068941
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 JBrowse link 6 91,664,263 91,737,468 RGD:9068941
Frontometaphyseal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:7240710
RGD:9068941
Frontometaphyseal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 JBrowse link 6 91,664,263 91,737,468 RGD:9068941
RGD:7240710
Geleophysic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:9068941
Geleophysic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:7240710
RGD:9068941
Geleophysic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:7240710
RGD:9068941
Geleophysic Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LTBP3 latent transforming growth factor beta binding protein 3 JBrowse link 11 64,233,504 64,252,797 RGD:9068941
RGD:7240710
Ghosal Hematodiaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBXAS1 thromboxane A synthase 1 JBrowse link 7 144,255,211 144,439,523 RGD:7240710
RGD:9068941
gnathodiaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 11 22,112,466 22,203,925 RGD:7240710
RGD:9068941
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 RGD:7240710
RGD:9068941
hereditary multiple exostoses term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXT1 exostosin glycosyltransferase 1 JBrowse link 8 117,011,571 117,325,464 RGD:9068941
G EXT2 exostosin glycosyltransferase 2 JBrowse link 11 44,551,242 44,699,447 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
Hyperostosis Cranialis Interna term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC39A14 solute carrier family 39 member 14 JBrowse link 8 18,555,894 18,610,606 RGD:9068941
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC9 ATP binding cassette subfamily C member 9 JBrowse link 12 66,960,888 67,102,496 RGD:7240710
RGD:9068941
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 JBrowse link 12 67,126,584 67,137,128 RGD:9068941
hypochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
hypochondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 1 216,018,878 216,076,060 RGD:9068941
G TBCE tubulin folding cofactor E JBrowse link 1 215,929,658 216,020,613 RGD:7240710
RGD:9068941
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLE DNA polymerase epsilon, catalytic subunit JBrowse link 12 134,695,976 134,758,650 RGD:9068941
RGD:7240710
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXTL3 exostosin like glycosyltransferase 3 JBrowse link 8 25,079,531 25,233,599 RGD:9068941
RGD:7240710
Jansen's metaphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTH1R parathyroid hormone 1 receptor JBrowse link 3 47,882,369 47,905,573 RGD:9068941
RGD:7240710
Kashin-Beck Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 54,793,594 54,800,466 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 18 59,797,184 59,993,298 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 10 89,199,070 89,244,884 RGD:9068941
Kenny-Caffey Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBCE tubulin folding cofactor E JBrowse link 1 215,929,658 216,020,613 RGD:7240710
RGD:9068941
Kenny-Caffey Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM111A family with sequence similarity 111 member A JBrowse link 11 57,814,345 57,824,589 RGD:7240710
RGD:9068941
G TBCE tubulin folding cofactor E JBrowse link 1 215,929,658 216,020,613 RGD:9068941
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Kniest Like Dysplasia Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,979,504 22,053,395 RGD:9068941
Langer Mesomelic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SHOX short stature homeobox JBrowse link X 532,424 542,450 RGD:7240710
RGD:9068941
Larsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:9068941
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941
Larsen Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:9068941
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GAT3 beta-1,3-glucuronyltransferase 3 JBrowse link 11 61,327,454 61,332,323 RGD:7240710
RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:9068941
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
Leri-Weill dyschondrosteosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SHOX short stature homeobox JBrowse link X 532,424 542,450 RGD:7240710
RGD:9068941
G SHOX2 short stature homeobox 2 JBrowse link 3 163,190,277 163,199,239 RGD:9068941
Lowry Wood Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLASP1 cytoplasmic linker associated protein 1 JBrowse link 2B 121,837,413 122,103,078 RGD:9068941
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF7 kinesin family member 7 JBrowse link 15 87,528,828 87,555,931 RGD:9068941
RGD:7240710
Marshall syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:7240710
RGD:9068941
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:9068941
McCune Albright syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAS GNAS complex locus JBrowse link 20 56,460,906 56,620,313 RGD:9068941
RGD:7240710
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LEMD3 LEM domain containing 3 JBrowse link 12 24,172,749 24,251,533 RGD:9068941
metachondromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:7240710
RGD:9068941
G RPL6 ribosomal protein L6 JBrowse link 12 113,398,795 113,403,247 RGD:9068941
Metaphyseal Anadysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP13 matrix metallopeptidase 13 JBrowse link 11 101,374,960 101,387,702 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
Metaphyseal Anadysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP13 matrix metallopeptidase 13 JBrowse link 11 101,374,960 101,387,702 RGD:9068941
Metaphyseal Anadysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:7240710
RGD:9068941
Metaphyseal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL10A1 collagen type X alpha 1 chain JBrowse link 6 118,067,477 118,074,684 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:9068941
G NT5DC1 5'-nucleotidase domain containing 1 JBrowse link 6 118,049,363 118,194,017 RGD:9068941
G PTH1R parathyroid hormone 1 receptor JBrowse link 3 47,882,369 47,905,573 RGD:9068941
Metaphyseal Chondrodysplasia Spahr Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP13 matrix metallopeptidase 13 JBrowse link 11 101,374,960 101,387,702 RGD:9068941
RGD:7240710
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CWC27 CWC27 spliceosome associated cyclophilin JBrowse link 5 50,634,936 50,885,617 RGD:9068941
RGD:7240710
metaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SFRP4 secreted frizzled related protein 4 JBrowse link 7 38,764,146 38,774,264 RGD:9068941
RGD:7240710
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:9068941
G SUPT3H SPT3 homolog, SAGA and STAGA complex component JBrowse link 6 45,687,038 46,239,155 RGD:9068941
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:7240710
RGD:9068941
metatropic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:7240710
RGD:9068941
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNT pericentrin JBrowse link 21 45,914,665 46,042,990 RGD:9068941
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLASP1 cytoplasmic linker associated protein 1 JBrowse link 2B 121,837,413 122,103,078 RGD:9068941
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCNT pericentrin JBrowse link 21 45,914,665 46,042,990 RGD:7240710
RGD:9068941
Microcephaly-Micromelia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DONSON downstream neighbor of SON JBrowse link 21 33,317,147 33,328,132 RGD:9068941
Miura type epiphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL9A1 collagen type IX alpha 1 chain JBrowse link 6 71,349,471 71,436,370 RGD:9068941
G COL9A2 collagen type IX alpha 2 chain JBrowse link 1 40,918,814 40,935,953 RGD:9068941
G COL9A3 collagen type IX alpha 3 chain JBrowse link 20 60,496,269 60,522,232 RGD:9068941
G COMP cartilage oligomeric matrix protein JBrowse link 19 19,229,420 19,238,053 RGD:9068941
G MATN3 matrilin 3 JBrowse link 2A 20,095,710 20,116,015 RGD:9068941
G TCFL5 transcription factor like 5 JBrowse link 20 60,522,153 60,541,900 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:9068941
multiple epiphyseal dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COMP cartilage oligomeric matrix protein JBrowse link 19 19,229,420 19,238,053 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL9A2 collagen type IX alpha 2 chain JBrowse link 1 40,918,814 40,935,953 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL9A3 collagen type IX alpha 3 chain JBrowse link 20 60,496,269 60,522,232 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MATN3 matrilin 3 JBrowse link 2A 20,095,710 20,116,015 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL9A1 collagen type IX alpha 1 chain JBrowse link 6 71,349,471 71,436,370 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CANT1 calcium activated nucleotidase 1 JBrowse link 17 78,612,406 78,626,174 RGD:9068941
RGD:7240710
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Multiple Exostoses Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXT1 exostosin glycosyltransferase 1 JBrowse link 8 117,011,571 117,325,464 RGD:7240710
RGD:9068941
Multiple Exostoses Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXT2 exostosin glycosyltransferase 2 JBrowse link 11 44,551,242 44,699,447 RGD:7240710
RGD:9068941
Nasu-Hakola disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TREM2 triggering receptor expressed on myeloid cells 2 JBrowse link 6 42,043,887 42,048,578 RGD:9068941
G TYROBP transmembrane immune signaling adaptor TYROBP JBrowse link 19 41,570,674 41,575,226 RGD:7240710
RGD:9068941
OI/EDS Combined Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
Ollier disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 JBrowse link 2B 213,599,036 213,628,840 RGD:9068941
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 15 87,972,883 87,991,270 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
omodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FZD2 frizzled class receptor 2 JBrowse link 17 13,007,752 13,013,346 RGD:9068941
G GPC6 glypican 6 JBrowse link 13 93,556,152 94,744,052 RGD:9068941
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPC6 glypican 6 JBrowse link 13 93,556,152 94,744,052 RGD:7240710
RGD:9068941
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FZD2 frizzled class receptor 2 JBrowse link 17 13,007,752 13,013,346 RGD:9068941
RGD:7240710
Opsismodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INPPL1 inositol polyphosphate phosphatase like 1 JBrowse link 11 70,527,525 70,540,623 RGD:7240710
RGD:9068941
Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPT1 transmembrane anterior posterior transformation 1 JBrowse link 4 15,886,075 15,938,591 RGD:9068941
RGD:7240710
Osteochondroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
osteogenesis imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP1 bone morphogenetic protein 1 JBrowse link 8 18,349,836 18,396,796 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G CRTAP cartilage associated protein JBrowse link 3 33,342,700 33,376,184 RGD:9068941
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:9068941
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:9068941
G P3H1 prolyl 3-hydroxylase 1 JBrowse link 1 43,423,579 43,443,443 RGD:9068941
G PPIB peptidylprolyl isomerase B JBrowse link 15 61,400,275 61,406,758 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 17 1,638,479 1,653,568 RGD:9068941
G SERPINH1 serpin family H member 1 JBrowse link 11 73,922,617 73,933,379 RGD:9068941
G SFTPC surfactant protein C JBrowse link 8 18,343,007 18,348,764 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 18 47,692,311 47,802,530 RGD:9068941
G SMPD3 sphingomyelin phosphodiesterase 3 JBrowse link 16 68,129,034 68,219,625 RGD:9068941
G SNX22 sorting nexin 22 JBrowse link 15 61,396,185 61,401,937 RGD:9068941
G SP7 Sp7 transcription factor JBrowse link 12 36,191,091 36,209,494 RGD:9068941
G SPARC secreted protein acidic and cysteine rich JBrowse link 5 153,091,160 153,115,745 RGD:9068941
G WNT1 Wnt family member 1 JBrowse link 12 40,648,413 40,652,583 RGD:9068941
osteogenesis imperfecta type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
RGD:7240710
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G ITGA3 integrin subunit alpha 3 JBrowse link 17 49,019,889 49,055,245 RGD:9068941
G PDK2 pyruvate dehydrogenase kinase 2 JBrowse link 17 49,060,030 49,076,115 RGD:9068941
G PPP1R9B protein phosphatase 1 regulatory subunit 9B JBrowse link 17 49,098,089 49,129,659 RGD:9068941
G SAMD14 sterile alpha motif domain containing 14 JBrowse link 17 49,076,058 49,094,497 RGD:9068941
G SGCA sarcoglycan alpha JBrowse link 17 49,130,330 49,141,188 RGD:9068941
osteogenesis imperfecta type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SERPINH1 serpin family H member 1 JBrowse link 11 73,922,617 73,933,379 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:7240710
RGD:9068941
G SP7 Sp7 transcription factor JBrowse link 12 36,191,091 36,209,494 RGD:9068941
osteogenesis imperfecta type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 17 1,638,479 1,653,568 RGD:9068941
G SP7 Sp7 transcription factor JBrowse link 12 36,191,091 36,209,494 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP1 bone morphogenetic protein 1 JBrowse link 8 18,349,836 18,396,796 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM38B transmembrane protein 38B JBrowse link 9 104,980,839 105,128,988 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WNT1 Wnt family member 1 JBrowse link 12 40,648,413 40,652,583 RGD:7240710
RGD:9068941
G WNT10B Wnt family member 10B JBrowse link 12 40,659,106 40,665,734 RGD:9068941
osteogenesis imperfecta type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CREB3L1 cAMP responsive element binding protein 3 like 1 JBrowse link 11 46,788,561 46,830,246 RGD:9068941
RGD:7240710
osteogenesis imperfecta type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPARC secreted protein acidic and cysteine rich JBrowse link 5 153,091,160 153,115,745 RGD:7240710
RGD:9068941
Osteogenesis Imperfecta Type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TENT5A terminal nucleotidyltransferase 5A JBrowse link 6 82,901,079 82,908,072 RGD:9068941
RGD:7240710
Osteogenesis Imperfecta Type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MBTPS2 membrane bound transcription factor peptidase, site 2 JBrowse link X 21,825,780 21,871,381 RGD:9068941
RGD:7240710
osteogenesis imperfecta type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:7240710
RGD:9068941
G SMPD3 sphingomyelin phosphodiesterase 3 JBrowse link 16 68,129,034 68,219,625 RGD:9068941
Osteogenesis Imperfecta Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MESD mesoderm development LRP chaperone JBrowse link 15 78,914,991 78,926,612 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
osteogenesis imperfecta type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:7240710
RGD:9068941
G SMPD3 sphingomyelin phosphodiesterase 3 JBrowse link 16 68,129,034 68,219,625 RGD:9068941
osteogenesis imperfecta type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFITM5 interferon induced transmembrane protein 5 JBrowse link 11 338,216 339,557 RGD:7240710
RGD:9068941
G SUCO SUN domain containing ossification factor JBrowse link 1 151,740,627 151,821,285 RGD:9068941
osteogenesis imperfecta type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SERPINF1 serpin family F member 1 JBrowse link 17 1,638,479 1,653,568 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRTAP cartilage associated protein JBrowse link 3 33,342,700 33,376,184 RGD:7240710
RGD:9068941
G GLB1 galactosidase beta 1 JBrowse link 3 33,231,208 33,336,804 RGD:9068941
G TMPPE transmembrane protein with metallophosphoesterase domain JBrowse link 3 33,327,829 33,336,778 RGD:9068941
osteogenesis imperfecta type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3H1 prolyl 3-hydroxylase 1 JBrowse link 1 43,423,579 43,443,443 RGD:7240710
RGD:9068941
osteogenesis imperfecta type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PPIB peptidylprolyl isomerase B JBrowse link 15 61,400,275 61,406,758 RGD:7240710
RGD:9068941
G SNX22 sorting nexin 22 JBrowse link 15 61,396,185 61,401,937 RGD:9068941
osteoglophonic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:7240710
RGD:9068941
osteopathia striata with cranial sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMER1 APC membrane recruitment protein 1 JBrowse link X 63,396,335 63,412,289 RGD:7240710
RGD:9068941
Osteopenic Nonfracture Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
osteopetrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CA2 carbonic anhydrase 2 JBrowse link 8 83,601,163 83,618,327 RGD:9068941
G CEBPA CCAAT enhancer binding protein alpha JBrowse link 19 38,969,065 38,971,031 RGD:9068941
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,498,432 1,518,783 RGD:9068941
G CSF1 colony stimulating factor 1 JBrowse link 1 127,764,916 127,864,188 RGD:9068941
G CTSK cathepsin K JBrowse link 1 129,795,966 129,808,316 RGD:9068941
G FERMT3 fermitin family member 3 JBrowse link 11 62,909,030 62,928,191 RGD:9068941
G FOSL1 FOS like 1, AP-1 transcription factor subunit JBrowse link 11 64,581,841 64,589,300 RGD:9068941
G GHR growth hormone receptor JBrowse link 5 72,700,150 72,997,356 RGD:9068941
G JUN Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 1 59,747,129 59,750,446 RGD:9068941
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:9068941
G LRRK1 leucine rich repeat kinase 1 JBrowse link 15 98,936,123 99,081,168 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 11 66,421,076 66,427,101 RGD:9068941
G OSTM1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 6 109,705,522 109,738,691 RGD:9068941
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 JBrowse link 11 66,429,435 66,441,327 RGD:9068941
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 18 59,032,727 59,075,044 RGD:9068941
G TNFSF11 TNF superfamily member 11 RGD:9068941
Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LEMD3 LEM domain containing 3 JBrowse link 12 24,172,749 24,251,533 RGD:9068941
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:7240710
RGD:9068941
osteosclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LTBP3 latent transforming growth factor beta binding protein 3 JBrowse link 11 64,233,504 64,252,797 RGD:9068941
G TBCE tubulin folding cofactor E JBrowse link 1 215,929,658 216,020,613 RGD:9068941
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRRK1 leucine rich repeat kinase 1 JBrowse link 15 98,936,123 99,081,168 RGD:9068941
Oto-Palato-Digital Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:7240710
RGD:9068941
G OFD1 OFD1 centriole and centriolar satellite protein JBrowse link X 13,630,006 13,669,285 RGD:9068941
Oto-Palato-Digital Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:7240710
RGD:9068941
Otopalatodigital Spectrum Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:9068941
otospondylomegaepiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:7240710
RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSX2 msh homeobox 2 JBrowse link 5 176,968,315 176,974,679 RGD:7240710
RGD:9068941
Pierre Robin Syndrome with Fetal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:7240710
RGD:9068941
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TREM2 triggering receptor expressed on myeloid cells 2 JBrowse link 6 42,043,887 42,048,578 RGD:9068941
RGD:7240710
Prenatal Cortical Hyperostosis, Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
progressive pseudorheumatoid arthropathy of childhood term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCN6 cellular communication network factor 6 JBrowse link 6 113,939,882 113,955,433 RGD:7240710
RGD:9068941
pseudoachondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COMP cartilage oligomeric matrix protein JBrowse link 19 19,229,420 19,238,053 RGD:7240710
RGD:9068941
pycnodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTSK cathepsin K JBrowse link 1 129,795,966 129,808,316 RGD:7240710
RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
Raine Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM20C FAM20C golgi associated secretory pathway kinase JBrowse link 7 575,633 635,643 RGD:7240710
RGD:9068941
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGPS alkylglycerone phosphate synthase JBrowse link 2B 182,375,149 182,526,192 RGD:9068941
G GNPAT glyceronephosphate O-acyltransferase JBrowse link 1 211,819,259 211,855,974 RGD:9068941
G PEX5 peroxisomal biogenesis factor 5 JBrowse link 12 7,235,049 7,255,815 RGD:9068941
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 6 138,671,616 138,763,241 RGD:9068941
rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 6 138,671,616 138,763,241 RGD:7240710
RGD:9068941
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNPAT glyceronephosphate O-acyltransferase JBrowse link 1 211,819,259 211,855,974 RGD:7240710
RGD:9068941
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGPS alkylglycerone phosphate synthase JBrowse link 2B 182,375,149 182,526,192 RGD:7240710
RGD:9068941
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PEX5 peroxisomal biogenesis factor 5 JBrowse link 12 7,235,049 7,255,815 RGD:7240710
RGD:9068941
Roifman Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLASP1 cytoplasmic linker associated protein 1 JBrowse link 2B 121,837,413 122,103,078 RGD:9068941
SADDAN term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
RGD:7240710
Saldino-Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:9068941
SAPHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 JBrowse link 6 20,705,442 21,406,933 RGD:9068941
G MDM2 MDM2 proto-oncogene JBrowse link 12 69,102,083 69,133,278 RGD:9068941
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 JBrowse link 18 42,804,773 42,902,203 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 RGD:9068941
SAUL-WILSON SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COG4 component of oligomeric golgi complex 4 JBrowse link 16 70,318,788 70,360,843 RGD:9068941
RGD:7240710
Schimke immuno-osseous dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 JBrowse link 2B 222,276,294 222,347,258 RGD:7240710
RGD:9068941
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL10A1 collagen type X alpha 1 chain JBrowse link 6 118,067,477 118,074,684 RGD:7240710
RGD:9068941
G NT5DC1 5'-nucleotidase domain containing 1 JBrowse link 6 118,049,363 118,194,017 RGD:9068941
schneckenbecken dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC35D1 solute carrier family 35 member D1 JBrowse link 1 68,133,647 68,188,694 RGD:7240710
RGD:9068941
Schwartz-Jampel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,979,504 22,053,395 RGD:9068941
RGD:7240710
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 JBrowse link 1 21,969,991 21,980,475 RGD:9068941
Schwartz-Lelek Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:9068941
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC10A7 solute carrier family 10 member 7 JBrowse link 4 150,249,964 150,511,066 RGD:7240710
RGD:9068941
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT172 intraflagellar transport 172 JBrowse link 2A 27,536,534 27,580,406 RGD:7240710
RGD:9068941
G KRTCAP3 keratinocyte associated protein 3 JBrowse link 2A 27,534,580 27,536,458 RGD:9068941
short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 9 128,341,739 128,422,971 RGD:9068941
G WDR34 WD repeat domain 34 JBrowse link 9 128,422,958 128,447,444 RGD:7240710
RGD:9068941
short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP120 centrosomal protein 120 JBrowse link 5 124,514,996 124,593,259 RGD:7240710
RGD:9068941
short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIAA0586 KIAA0586 ortholog JBrowse link 14 57,287,138 57,405,914 RGD:7240710
RGD:9068941
Short-Rib Thoracic Dysplasia 15 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG5 ATP binding cassette subfamily G member 5 JBrowse link 2A 44,745,183 44,771,012 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2A 44,706,777 44,760,757 RGD:9068941
RGD:7240710
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT52 intraflagellar transport 52 JBrowse link 20 41,023,517 41,080,500 RGD:9068941
RGD:7240710
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TCTEX1D2 Tctex1 domain containing 2 JBrowse link 3 203,580,040 203,607,193 RGD:9068941
RGD:7240710
short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:9068941
RGD:7240710
short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT81 intraflagellar transport 81 JBrowse link 12 111,093,661 111,186,786 RGD:9068941
RGD:7240710
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INTU inturned planar cell polarity protein JBrowse link 4 131,109,630 131,186,930 RGD:9068941
RGD:7240710
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:9068941
short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
RGD:7240710
short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:7240710
RGD:9068941
short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR60 WD repeat domain 60 JBrowse link 7 162,142,751 162,219,783 RGD:7240710
RGD:9068941
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT140 intraflagellar transport 140 JBrowse link 16 1,566,309 1,662,833 RGD:7240710
RGD:9068941
Silverman-Handmaker type dyssegmental dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,979,504 22,053,395 RGD:7240710
RGD:9068941
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 JBrowse link 1 21,969,991 21,980,475 RGD:9068941
Smith-McCort dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYM dymeclin JBrowse link 18 45,780,831 46,179,616 RGD:7240710
RGD:9068941
G RAB33B RAB33B, member RAS oncogene family JBrowse link 4 143,123,480 143,147,147 RGD:9068941
Smith-McCort Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB33B RAB33B, member RAS oncogene family JBrowse link 4 143,123,480 143,147,147 RGD:7240710
RGD:9068941
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX3-2 NK3 homeobox 2 JBrowse link 4 13,258,949 13,262,458 RGD:7240710
RGD:9068941
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,910,552 47,918,014 RGD:7240710
RGD:9068941
Spondyloenchondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACP5 acid phosphatase 5, tartrate resistant JBrowse link 19 11,832,575 11,836,881 RGD:9068941
spondyloepimetaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G DDR2 discoidin domain receptor tyrosine kinase 2 JBrowse link 1 141,845,361 141,997,082 RGD:9068941
G MMP13 matrix metallopeptidase 13 JBrowse link 11 101,374,960 101,387,702 RGD:9068941
G RPL13 ribosomal protein L13 JBrowse link 16 89,920,347 89,923,535 RGD:9068941
Spondyloepimetaphyseal Dysplasia with Joint Laxity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 1 1,188,683 1,191,648 RGD:9068941
G SDF4 stromal cell derived factor 4 JBrowse link 1 1,173,925 1,190,390 RGD:9068941
G TNFRSF4 TNF receptor superfamily member 4 JBrowse link 1 1,168,706 1,171,341 RGD:9068941
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 1 1,188,683 1,191,648 RGD:7240710
RGD:9068941
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF22 kinesin family member 22 JBrowse link 16 30,161,058 30,176,389 RGD:7240710
RGD:9068941
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXOC6B exocyst complex component 6B JBrowse link 2A 73,720,046 74,371,952 RGD:7240710
RGD:9068941
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UFSP2 UFM1 specific peptidase 2 JBrowse link 4 189,779,242 189,805,572 RGD:7240710
RGD:9068941
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RSPRY1 ring finger and SPRY domain containing 1 JBrowse link 16 56,596,843 56,648,085 RGD:7240710
RGD:9068941
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NANS N-acetylneuraminate synthase JBrowse link 9 97,267,088 97,293,385 RGD:9068941
RGD:7240710
G TRIM14 tripartite motif containing 14 JBrowse link 9 97,294,407 97,330,059 RGD:9068941
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIK3 SIK family kinase 3 JBrowse link 11 115,613,478 115,726,997 RGD:9068941
RGD:7240710
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MATN3 matrilin 3 JBrowse link 2A 20,095,710 20,116,015 RGD:7240710
RGD:9068941
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP13 matrix metallopeptidase 13 JBrowse link 11 101,374,960 101,387,702 RGD:7240710
RGD:9068941
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 10 87,890,631 87,977,839 RGD:7240710
RGD:9068941
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDRGK1 DDRGK domain containing 1 JBrowse link 20 3,038,779 3,052,789 RGD:9068941
RGD:7240710
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TONSL tonsoku like, DNA repair protein JBrowse link 8 144,185,674 144,200,930 RGD:7240710
RGD:9068941
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
G FN1 fibronectin 1 JBrowse link 2B 221,208,431 221,284,003 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
Spondyloepimetaphyseal Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BGN biglycan JBrowse link X 152,931,608 152,946,292 RGD:9068941
RGD:7240710
spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
G HAPLN1 hyaluronan and proteoglycan link protein 1 JBrowse link 5 31,879,669 31,963,636 RGD:9068941
G TRAPPC2 trafficking protein particle complex 2 JBrowse link X 13,609,852 13,629,926 RGD:9068941
spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G TRAPPC2 trafficking protein particle complex 2 JBrowse link X 13,609,852 13,629,926 RGD:7240710
RGD:9068941
spondyloepiphyseal dysplasia with congenital joint dislocations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:7240710
RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G TRAPPC2 trafficking protein particle complex 2 JBrowse link X 13,609,852 13,629,926 RGD:9068941
Spondyloepiphyseal Dysplasia, Kimberley Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 86,733,853 86,771,420 RGD:7240710
RGD:9068941
Spondyloepiphyseal Dysplasia, Kondo-Fu Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MBTPS1 membrane bound transcription factor peptidase, site 1 JBrowse link 16 84,063,508 84,126,000 RGD:7240710
RGD:9068941
Spondyloepiphyseal Dysplasia, Maroteaux Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:7240710
RGD:9068941
Spondyloepiphyseal Dysplasia, Stanescu Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,723,099 95,774,095 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDR2 discoidin domain receptor tyrosine kinase 2 JBrowse link 1 141,845,361 141,997,082 RGD:7240710
RGD:9068941
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCYT1A phosphate cytidylyltransferase 1, choline, alpha JBrowse link 3 203,522,292 203,576,851 RGD:7240710
RGD:9068941
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FN1 fibronectin 1 JBrowse link 2B 221,208,431 221,284,003 RGD:9068941
RGD:7240710
Spondylometaphyseal Dysplasia, Axial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFAP410 cilia and flagella associated protein 410 JBrowse link 21 43,879,949 43,890,112 RGD:9068941
Spondylometaphyseal Dysplasia, Kozlowski Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:7240710
RGD:9068941
Spondylometaphyseal Dysplasia, Sedaghatian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,082,917 1,085,538 RGD:9068941
RGD:7240710
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G XYLT2 xylosyltransferase 2 JBrowse link 17 49,314,397 49,329,729 RGD:9068941
Spondyloperipheral Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Stuve-Wiedemann Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,979,504 22,053,395 RGD:9068941
G LIFR LIF receptor subunit alpha JBrowse link 5 76,878,633 76,934,893 RGD:7240710
RGD:9068941
TARP Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RBM10 RNA binding motif protein 10 JBrowse link X 47,440,586 47,481,418 RGD:7240710
RGD:9068941
Ter Haar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SH3PXD2B SH3 and PX domains 2B JBrowse link 5 174,599,996 174,719,951 RGD:7240710
RGD:9068941
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:7240710
RGD:9068941
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,979,504 22,053,395 RGD:9068941
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
Torrance type platyspondylic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Trichorhinophalangeal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 114,626,357 114,854,222 RGD:9068941
trichorhinophalangeal syndrome type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARD alanine and arginine rich domain containing protein JBrowse link 8 116,155,559 116,160,040 RGD:9068941
G ACADL acyl-CoA dehydrogenase long chain JBrowse link 2B 215,847,775 215,885,524 RGD:9068941
G ANXA13 annexin A13 JBrowse link 8 123,131,305 123,167,399 RGD:9068941
G ATAD2 ATPase family AAA domain containing 2 JBrowse link 8 122,770,893 122,846,957 RGD:9068941
G C8H8orf76 chromosome 8 C8orf76 homolog JBrowse link 8 122,672,133 122,695,029 RGD:9068941
G CCN3 cellular communication network factor 3 JBrowse link 8 118,856,969 118,865,039 RGD:9068941
G COL14A1 collagen type XIV alpha 1 chain JBrowse link 8 119,588,512 119,834,226 RGD:9068941
G COLEC10 collectin subfamily member 10 JBrowse link 8 118,277,527 118,317,271 RGD:9068941
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 2B 216,136,857 216,337,728 RGD:9068941
G DEPTOR DEP domain containing MTOR interacting protein JBrowse link 8 119,311,942 119,492,127 RGD:9068941
G DERL1 derlin 1 JBrowse link 8 122,463,063 122,492,137 RGD:9068941
G DSCC1 DNA replication and sister chromatid cohesion 1 JBrowse link 8 119,272,490 119,294,342 RGD:9068941
G EIF3H eukaryotic translation initiation factor 3 subunit H JBrowse link 8 115,863,493 115,984,107 RGD:9068941
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 JBrowse link 8 118,998,530 119,114,271 RGD:9068941
G ERBB4 erb-b2 receptor tyrosine kinase 4 JBrowse link 2B 217,107,266 218,272,621 RGD:9068941
G EXT1 exostosin glycosyltransferase 1 JBrowse link 8 117,011,571 117,325,464 RGD:9068941
G FAM83A family with sequence similarity 83 member A JBrowse link 8 122,633,373 122,659,864 RGD:9068941
G FAM91A1 family with sequence similarity 91 member A1 JBrowse link 8 123,218,674 123,265,837 RGD:9068941
G FBXO32 F-box protein 32 JBrowse link 8 122,948,853 122,992,157 RGD:9068941
G FER1L6 fer-1 like family member 6 JBrowse link 8 123,399,020 123,562,429 RGD:9068941
G HAS2 hyaluronan synthase 2 JBrowse link 8 121,073,419 121,101,450 RGD:9068941
G IKZF2 IKAROS family zinc finger 2 JBrowse link 2B 218,731,828 218,882,087 RGD:9068941
G KANSL1L KAT8 regulatory NSL complex subunit 1 like JBrowse link 2B 215,683,077 215,831,064 RGD:9068941
G KLHL38 kelch like family member 38 JBrowse link 8 123,096,071 123,104,247 RGD:9068941
G LANCL1 LanC like 1 JBrowse link 2B 216,090,580 216,136,826 RGD:9068941
G LRATD2 LRAT domain containing 2 JBrowse link 8 125,965,364 125,971,383 RGD:9068941
G MAL2 mal, T cell differentiation protein 2 JBrowse link 8 118,413,406 118,452,972 RGD:9068941
G MAP2 microtubule associated protein 2 JBrowse link 2B 215,085,476 215,395,439 RGD:9068941
G MED30 mediator complex subunit 30 JBrowse link 8 116,732,720 116,752,249 RGD:9068941
G MRPL13 mitochondrial ribosomal protein L13 JBrowse link 8 119,856,492 119,903,642 RGD:9068941
G MTBP MDM2 binding protein JBrowse link 8 119,903,633 119,980,911 RGD:9068941
G MTSS1 MTSS I-BAR domain containing 1 JBrowse link 8 123,987,583 124,164,827 RGD:9068941
G MYC MYC proto-oncogene, bHLH transcription factor JBrowse link 8 127,130,877 127,136,861 RGD:9068941
G MYL1 myosin light chain 1 JBrowse link 2B 215,940,808 215,974,852 RGD:9068941
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 8 123,975,910 123,986,781 RGD:9068941
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 8 124,529,245 124,803,354 RGD:9068941
G POU5F1B POU class 5 homeobox 1B JBrowse link 8 126,812,875 126,814,404 RGD:9068941
G RAD21 RAD21 cohesin complex component JBrowse link 8 116,063,503 116,092,421 RGD:9068941
G RNF139 ring finger protein 139 JBrowse link 8 123,912,589 123,924,984 RGD:9068941
G RPE ribulose-5-phosphate-3-epimerase JBrowse link 2B 215,663,592 215,685,654 RGD:9068941
G SAMD12 sterile alpha motif domain containing 12 JBrowse link 8 117,345,231 117,832,607 RGD:9068941
G SLC30A8 solute carrier family 30 member 8 JBrowse link 8 116,167,700 116,394,095 RGD:9068941
G SNTB1 syntrophin beta 1 JBrowse link 8 119,993,019 120,269,695 RGD:9068941
G SPAG16 sperm associated antigen 16 JBrowse link 2B 219,014,837 220,139,499 RGD:9068941
G SQLE squalene epoxidase JBrowse link 8 124,435,668 124,459,441 RGD:9068941
G TAF2 TATA-box binding protein associated factor 2 JBrowse link 8 119,170,327 119,271,405 RGD:9068941
G TATDN1 TatD DNase domain containing 1 JBrowse link 8 123,925,580 123,975,908 RGD:9068941
G TBC1D31 TBC1 domain family member 31 JBrowse link 8 122,521,713 122,601,373 RGD:9068941
G TMEM65 transmembrane protein 65 JBrowse link 8 123,747,053 123,791,955 RGD:9068941
G TNFRSF11B TNF receptor superfamily member 11b JBrowse link 8 118,134,305 118,162,422 RGD:9068941
G TRIB1 tribbles pseudokinase 1 JBrowse link 8 124,867,334 124,874,863 RGD:9068941
G TRMT12 tRNA methyltransferase 12 homolog JBrowse link 8 123,888,217 123,890,475 RGD:9068941
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 114,626,357 114,854,222 RGD:7240710
RGD:9068941
G UNC80 unc-80 homolog, NALCN channel complex subunit JBrowse link 2B 215,434,345 215,660,429 RGD:9068941
G UTP23 UTP23 small subunit processome component JBrowse link 8 115,984,355 115,990,708 RGD:9068941
G WASHC5 WASH complex subunit 5 JBrowse link 8 124,461,424 124,529,262 RGD:9068941
G WDYHV1 WDYHV motif containing 1 JBrowse link 8 122,86