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ONTOLOGY REPORT - ANNOTATIONS


Term:Metabolic Bone Diseases
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Accession:DOID:9002278 term browser browse the term
Definition:Diseases that affect the METABOLIC PROCESSES of BONE TISSUE.
Synonyms:exact_synonym: Metabolic Bone Disease;   osteopenia;   osteopenias
 primary_id: MESH:D001851
 alt_id: RDO:0001042
For additional species annotation, visit the Alliance of Genome Resources.


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Metabolic Bone Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:11554173
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:11554173
G Cebpa CCAAT/enhancer binding protein alpha JBrowse link 1 91,363,492 91,366,164 RGD:10401269
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11566031
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:11554173
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:11554173
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:11554173
G Dhcr7 7-dehydrocholesterol reductase JBrowse link 1 217,018,916 217,034,890 RGD:11554173
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 JBrowse link 1 248,952,896 248,956,579 RGD:6907379
RGD:6907380
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:11554173
G Gc GC, vitamin D binding protein JBrowse link 14 20,267,023 20,302,577 RGD:11554173
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:1601375
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10402812
RGD:6907380
RGD:11554173
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:6907380
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:10402812
G Il7 interleukin 7 JBrowse link 2 96,427,884 96,474,979 RGD:10402929
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:11554173
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:11554173
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:11343819
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 JBrowse link 10 83,635,557 83,643,862 RGD:11554173
G Slc20a1 solute carrier family 20 member 1 JBrowse link 3 121,725,204 121,739,160 RGD:11554173
Albright's hereditary osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11568049
RGD:11568047
RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1598933
RGD:8554872
RGD:10044239
RGD:7240710
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
congenital disorder of glycosylation type IIa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:7240710
RGD:8554872
Familial Hypophosphatemic Rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:11554173
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11554173
RGD:8554872
glycoproteinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:1599045
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:1599926
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:8554872
RGD:13592920
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242924
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242924
RGD:13592920
RGD:7242925
G Slc34a3 solute carrier family 34 member 3 JBrowse link 3 2,448,391 2,454,019 RGD:7240710
RGD:8554872
Hypophosphatemic Nephrolithiasis/Osteoporosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7240710
RGD:8554872
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a3r1 SLC9A3 regulator 1 JBrowse link 10 103,713,045 103,730,145 RGD:7240710
RGD:8554872
Hypophosphatemic Rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11558021
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:10044208
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:8554872
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:7240710
RGD:8554872
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:6906930
RGD:8554872
RGD:7240710
RGD:6906931
idiopathic juvenile osteoporosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:12793058
inclusion-cell disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
RGD:7240710
microvillus inclusion disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:13592920
G Myo5b myosin Vb JBrowse link 18 70,426,865 70,729,985 RGD:7240710
RGD:8554872
Mucolipidosis III Gamma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:8554872
RGD:7240710
G Unkl unk like zinc finger JBrowse link 10 14,547,126 14,593,090 RGD:8554872
Neuraminidase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:7240710
RGD:8554872
osteomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7794797
G Mepe matrix extracellular phosphoglycoprotein JBrowse link 14 6,782,011 6,793,561 RGD:11554173
osteoporosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:10047094
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:2325225
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:11554173
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:11554173
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:6767561
RGD:7245948
G Antxr2 ANTXR cell adhesion molecule 2 JBrowse link 14 13,191,716 13,331,286 RGD:11554173
G Anxa2 annexin A2 JBrowse link 8 75,687,134 75,723,589 RGD:11554173
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:10043196
RGD:10043198
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:11554173
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:10047420
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054093
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054093
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483552
RGD:10045665
RGD:6483579
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:1625350
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:734677
G Calcr calcitonin receptor JBrowse link 4 28,627,439 28,702,559 RGD:7240710
RGD:8554872
RGD:10045665
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 JBrowse link 5 140,559,195 140,585,494 RGD:11554173
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:11554173
G Cct2 chaperonin containing TCP1 subunit 2 JBrowse link 7 60,106,532 60,122,779 RGD:11554173
G Cdk9 cyclin-dependent kinase 9 JBrowse link 3 11,742,269 11,747,117 RGD:8554872
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:13592920
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:7240710
RGD:11041180
RGD:10045665
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Ctsk cathepsin K JBrowse link 2 196,655,469 196,666,447 RGD:734856
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:1625350
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:1625350
RGD:11554173
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 3 168,097,484 168,111,920 RGD:11554173
G Daam2 dishevelled associated activator of morphogenesis 2 JBrowse link 9 13,444,883 13,493,154 RGD:11554173
G Dbp D-box binding PAR bZIP transcription factor JBrowse link 1 101,687,896 101,692,845 RGD:1625350
G Dspp dentin sialophosphoprotein JBrowse link 14 6,926,972 6,933,079 RGD:12911019
G Eno1 enolase 1 JBrowse link 5 167,288,223 167,299,610 RGD:11554173
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:10045609
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:10045665
RGD:10045841
RGD:10045839
RGD:10045834
RGD:8694129
RGD:10045828
RGD:10045826
RGD:10045825
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:1626507
RGD:10045841
RGD:10045825
RGD:8694129
RGD:7364765
G Esrra estrogen related receptor, alpha JBrowse link 1 222,168,729 222,178,842 RGD:10401868
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:11554173
G Fgb fibrinogen beta chain JBrowse link 2 182,028,044 182,035,026 RGD:11554173
G Gapdh glyceraldehyde-3-phosphate dehydrogenase JBrowse link 4 157,676,336 157,680,322 RGD:11554173
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:10003132
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003128
RGD:10003131
G Gorab golgin, RAB6-interacting JBrowse link 13 81,682,207 81,698,827 RGD:11554173
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:11554173
G Gpd2 glycerol-3-phosphate dehydrogenase 2 JBrowse link 3 43,223,892 43,359,069 RGD:11554173
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11554173
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:11554173
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:10401828
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:10401929
G Htr2c 5-hydroxytryptamine receptor 2C JBrowse link X 118,084,520 118,318,040 RGD:8554872
G Id4 inhibitor of DNA binding 4, HLH protein JBrowse link 17 16,692,557 16,695,126 RGD:13592920
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G Ifngr1 interferon gamma receptor 1 JBrowse link 1 15,062,380 15,080,815 RGD:13592920
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10003127
RGD:10003132
RGD:10003131
RGD:10003128
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:10045888
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:10402555
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:10402579
G Il13ra2 interleukin 13 receptor subunit alpha 2 JBrowse link X 118,443,955 118,514,716 RGD:8554872
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:6907107
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7204491
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8551834
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Il6r interleukin 6 receptor JBrowse link 2 189,196,180 189,255,987 RGD:11554173
G Irak3 interleukin-1 receptor-associated kinase 3 JBrowse link 7 64,922,830 64,982,224 RGD:13592920
G Irs1 insulin receptor substrate 1 JBrowse link 9 88,033,668 88,086,488 RGD:7207063
G Irs2 insulin receptor substrate 2 JBrowse link 16 83,824,515 83,848,569 RGD:7207063
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:10403047
RGD:11554173
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128771
RGD:10053630
RGD:10053615
RGD:10053572
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:10411886
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 JBrowse link 3 101,051,960 101,152,119 RGD:8554872
RGD:7240710
G Lrch2 leucine rich repeats and calponin homology domain containing 2 JBrowse link X 118,532,396 118,615,845 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:1625350
RGD:8554872
RGD:7240519
RGD:12793063
RGD:7240710
G Ltf lactotransferrin JBrowse link 8 119,290,416 119,313,261 RGD:11554173
G Luzp4 leucine zipper protein 4 JBrowse link X 118,725,749 118,766,413 RGD:8554872
G Mapk14 mitogen activated protein kinase 14 JBrowse link 20 5,933,290 5,995,137 RGD:10045965
G Mgll monoglyceride lipase JBrowse link 4 120,671,436 120,773,458 RGD:11554173
G Mir448 microRNA 448 JBrowse link X 118,277,684 118,277,795 RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5129553
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7240519
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:10414323
G Nrip1 nuclear receptor interacting protein 1 JBrowse link 11 14,658,225 14,742,478 RGD:10045825
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
G Oxct1 3-oxoacid CoA transferase 1 JBrowse link 2 53,859,738 54,007,733 RGD:11554173
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:11554173
G Park7 Parkinsonism associated deglycase JBrowse link 5 167,982,438 168,004,724 RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:10045656
G Pdlim4 PDZ and LIM domain 4 JBrowse link 10 39,390,578 39,405,322 RGD:8554872
RGD:7240710
G Pgls 6-phosphogluconolactonase JBrowse link 16 20,020,444 20,025,930 RGD:11554173
G Pkm pyruvate kinase M1/2 JBrowse link 8 64,480,963 64,502,957 RGD:11554173
G Plek pleckstrin JBrowse link 14 100,151,518 100,184,192 RGD:11554173
G Pls3 plastin 3 JBrowse link X 119,030,311 119,124,268 RGD:8554872
RGD:7240710
G Pnp purine nucleoside phosphorylase JBrowse link 15 27,875,883 27,883,566 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Prdx3 peroxiredoxin 3 JBrowse link 1 282,238,774 282,251,193 RGD:11554173
G Psma2 proteasome subunit alpha 2 JBrowse link 17 53,091,937 53,102,324 RGD:11554173
G Psma5 proteasome subunit alpha 5 JBrowse link 2 211,050,344 211,073,706 RGD:11554173
G Ptger4 prostaglandin E receptor 4 JBrowse link 2 54,951,625 54,966,470 RGD:10043381
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242793
RGD:11554173
RGD:7242907
G Rab7b Rab7b, member RAS oncogene family JBrowse link 13 48,456,143 48,483,714 RGD:11554173
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Rsu1 Ras suppressor protein 1 JBrowse link 17 80,388,477 80,577,338 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:10047129
RGD:10053568
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11035299
RGD:11554173
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:13592920
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:10003128
RGD:11554173
G Tln1 talin 1 JBrowse link 5 59,033,635 59,063,592 RGD:11554173
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:11554173
G Tnfrsf1b TNF receptor superfamily member 1B JBrowse link 5 163,136,390 163,167,299 RGD:1625350
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:1625350
RGD:11554173
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:11554173
G Tpm4 tropomyosin 4 JBrowse link 16 19,385,810 19,399,851 RGD:11554173
G Tuba1b tubulin, alpha 1B JBrowse link 7 140,614,746 140,617,721 RGD:11554173
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:11554173
G Ugt2b17 UDP glucuronosyltransferase family 2 member B17 JBrowse link 14 22,724,399 22,736,148 RGD:8554872
RGD:7240710
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:4889871
RGD:7240710
G Wdr1 WD repeat domain 1 JBrowse link 14 76,990,014 77,023,739 RGD:11554173
G Wnt1 Wnt family member 1 JBrowse link 7 140,464,999 140,469,046 RGD:7240710
RGD:8554872
G Zdhhc13 zinc finger, DHHC-type containing 13 JBrowse link 1 104,106,211 104,145,045 RGD:11554173
Postmenopausal Osteoporosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp5 acid phosphatase 5, tartrate resistant JBrowse link 8 23,142,733 23,149,067 RGD:2315910
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578682
G Bmp15 bone morphogenetic protein 15 JBrowse link X 17,016,831 17,021,894 RGD:10045849
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:1600860
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8158082
RGD:10045838
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:1626507
RGD:10045849
RGD:10045847
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:10044241
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:10402191
RGD:10402540
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10045861
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:10402556
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Il7 interleukin 7 JBrowse link 2 96,427,884 96,474,979 RGD:10402930
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Nrip1 nuclear receptor interacting protein 1 JBrowse link 11 14,658,225 14,742,478 RGD:10045849
G Ptger4 prostaglandin E receptor 4 JBrowse link 2 54,951,625 54,966,470 RGD:10003045
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
G Ptk2b protein tyrosine kinase 2 beta JBrowse link 15 42,827,306 42,947,796 RGD:1642610
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:1331525
RGD:8158082
Progressive Osseous Heteroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:9068449
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068449
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:9068449
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:9068449
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:9068449
pseudo-Hurler polydystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:7240710
RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:13592920
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 RGD:8554872
G Slc26a11 solute carrier family 26 member 11 JBrowse link 10 108,479,105 108,504,188 RGD:8554872
pseudohypoparathyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
RGD:8554872
RGD:11568048
RGD:11568047
RGD:11568042
Pseudohypoparathyroidism Type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
RGD:7240710
pseudohypoparathyroidism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
RGD:7240710
RGD:8554872
RGD:11568050
RGD:11568048
RGD:11568044
RGD:11568043
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872
RGD:7240710
pseudopseudohypoparathyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11554173
renal osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242687
Revesz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:7240710
RGD:8554872
RGD:11554173
rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:734698
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:1600874
RGD:8554872
RGD:11554173
RGD:734871
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:13592920
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:13592920
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:1624354
RGD:8554872
RGD:11554173
Singleton Merten Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:7240710
RGD:8554872
Singleton-Merten Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx58 DEXD/H-box helicase 58 JBrowse link 5 56,486,584 56,536,898 RGD:8554872
RGD:7240710
Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:7240710
RGD:8554872
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
G Trappc9 trafficking protein particle complex 9 JBrowse link 7 113,986,363 114,309,090 RGD:8554872
Vitamin D Hydroxylation-Deficient Rickets, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 JBrowse link 1 184,060,521 184,106,604 RGD:7240710
RGD:8554872
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:7240710
RGD:13432060
RGD:13210792
RGD:13210780
RGD:13210778
RGD:8554872
RGD:8158074
Winchester Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp14 matrix metallopeptidase 14 JBrowse link 15 33,074,441 33,083,666 RGD:8554872
RGD:7240710
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:7207229
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:11560488
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:7240710
RGD:8554872
RGD:7207229
RGD:11556248
RGD:11556247
RGD:11556246
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8554872
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4151
      disease of metabolism 4151
        Metabolic Bone Diseases 366
          Aloi Tomasini Isaia Syndrome 0
          Bone Demineralization, Pathologic + 0
          Chitty Hall Baraitser Syndrome 0
          Hypophosphatemic Bone Disease 0
          Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
          Kaler Garrity Stern Syndrome 0
          Panostotic Fibrous Dysplasia 0
          Progressive Osseous Heteroplasia 6
          Revesz syndrome 1
          congenital disorder of glycosylation type IIa 2
          glycoproteinosis + 10
          osteoporosis + 317
          pseudohypoparathyroidism + 3
          rickets + 19
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            Metabolic Bone Diseases 366
              Aloi Tomasini Isaia Syndrome 0
              Bone Demineralization, Pathologic + 0
              Chitty Hall Baraitser Syndrome 0
              Hypophosphatemic Bone Disease 0
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Kaler Garrity Stern Syndrome 0
              Panostotic Fibrous Dysplasia 0
              Progressive Osseous Heteroplasia 6
              Revesz syndrome 1
              congenital disorder of glycosylation type IIa 2
              glycoproteinosis + 10
              osteoporosis + 317
              pseudohypoparathyroidism + 3
              rickets + 19
paths to the root