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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:osteoporosis
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Accession:DOID:11476 term browser browse the term
Definition:A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. (DO)
Synonyms:exact_synonym: Osteoporoses;   age related osteoporosis;   age-related bone loss;   age-related bone losses;   age-related osteoporoses;   involutional osteoporosis;   post-traumatic osteoporoses;   post-traumatic osteoporosis;   senile osteoporoses;   senile osteoporosis
 related_synonym: BMND;   BMND1;   BMND13;   BMND16;   BMND2;   Bone Mineral Density Quantitative Trait Locus;   Bone Mineral Density Quantitative Trait Locus 1;   Bone Mineral Density Quantitative Trait Locus 12;   Bone Mineral Density Quantitative Trait Locus 13;   Bone Mineral Density Quantitative Trait Locus 15;   Bone Mineral Density Quantitative Trait Locus 16;   Bone Mineral Density Quantitative Trait Locus 17;   Bone Mineral Density Quantitative Trait Locus 18;   Bone Mineral Density Quantitative Trait Locus 2;   FRACTURE, HIP, SUSCEPTIBILITY TO;   HBM;   HIGH BONE MASS;   OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO;   OSTEOPOROSIS, SUSCEPTIBILITY TO
 primary_id: MESH:D010024
 alt_id: OMIM:166710;   OMIM:300910;   OMIM:601884;   OMIM:605833;   OMIM:612560;   OMIM:612727;   OMIM:613418;   OMIM:615221;   OMIM:615311
 xref: ICD10CM:M81.0;   ICD9CM:733.0;   NCI:C3298
For additional species annotation, visit the Alliance of Genome Resources.


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osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
JBrowse link
G Actg1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105
JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009 PMID:22036861 RGD:6767561 RGD:7245948 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955450:14,545,586...14,574,161
Ensembl chrNW_004955450:14,512,381...14,574,696
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:14600402 PMID:18847323 RGD:10043196 RGD:10043198 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chrNW_004955404:362,410...372,077
Ensembl chrNW_004955404:362,368...372,077
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Bglap bone gamma-carboxyglutamate protein susceptibility ISO associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum
DNA:SNP, haplotype:promoter:g.-298C>T (human)
RGD PMID:15108065 PMID:21550389 PMID:23137636 RGD:10045665 RGD:6483552 RGD:6483579 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181
JBrowse link
G Ca2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363
JBrowse link
G Calcr calcitonin receptor susceptibility ISO DNA:SNP:cds:g.1340T>C (human) OMIM
RGD
PMID:23137636 RGD:10045665 NCBI chrNW_004955432:10,310,776...10,391,029
Ensembl chrNW_004955432:10,309,263...10,391,141
JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955452:17,503,530...17,528,049
Ensembl chrNW_004955452:17,503,531...17,528,049
JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955405:9,892,089...9,904,407
Ensembl chrNW_004955405:9,892,116...9,904,407
JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chrNW_004955559:515,341...517,521
Ensembl chrNW_004955559:514,134...517,787
JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO DNA:SNP, haplotype:intron:g.2046G>T (human) OMIM
RGD
PMID:23137636 RGD:10045665 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302
JBrowse link
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chrNW_004955588:149,036...158,093
Ensembl chrNW_004955588:148,748...158,093
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109
JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chrNW_004955437:6,728,703...6,839,903
Ensembl chrNW_004955437:6,728,523...6,839,903
JBrowse link
G Dbp D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004955559:1,915,424...1,921,322
Ensembl chrNW_004955559:1,916,018...1,921,075
JBrowse link
G Dspp dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chrNW_004955474:2,254,842...2,259,303 JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955486:4,275,371...4,287,152
Ensembl chrNW_004955486:4,274,238...4,289,809
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
JBrowse link
G Esr1 estrogen receptor 1 no_association
treatment
ISO DNA:SNP, haplotype:intron:g.938C>T (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNP:intron:397T>C (human)
DNA:SNP:exon:2014G>A (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
RGD PMID:10773580 PMID:16530497 PMID:16955786 PMID:17896124 PMID:17953702 PMID:20116372 PMID:21421090 PMID:23137636 RGD:10045665 RGD:10045825 RGD:10045826 RGD:10045828 RGD:10045834 RGD:10045839 RGD:10045841 RGD:8694129 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
JBrowse link
G Esr2 estrogen receptor 2 susceptibility
treatment
ISO DNA:SNP, haplotypes: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:3' utr: g.dupCA (human)
RGD PMID:16530497 PMID:16777502 PMID:16955786 PMID:21421090 PMID:22948905 RGD:10045825 RGD:10045841 RGD:1626507 RGD:7364765 RGD:8694129 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
JBrowse link
G Esrra estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chrNW_004955422:20,768,450...20,775,205
Ensembl chrNW_004955422:20,768,450...20,787,451
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955471:8,824,901...8,832,836
Ensembl chrNW_004955471:8,822,965...8,832,884
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:5448 PMID:1303173 PMID:1631957 PMID:1978554 PMID:2321910 PMID:2503817 PMID:2572288 PMID:2836867 PMID:3393536 PMID:3446582 PMID:4359638 PMID:4388132 PMID:6015571 PMID:7949118 PMID:8611726 PMID:8860013 PMID:9858856 PMID:10734064 PMID:12367584 PMID:12737938 PMID:14278484 PMID:16356170 PMID:25741868 PMID:26633385 PMID:27287612 PMID:28492532 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Ghr growth hormone receptor treatment ISO associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis
RGD PMID:17647196 PMID:19424739 RGD:10003128 RGD:10003131 NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
JBrowse link
G Gorab golgin, RAB6 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chrNW_004955462:6,807,618...6,824,296
Ensembl chrNW_004955462:6,807,707...6,825,935
JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chrNW_004955404:15,429,811...16,504,973
Ensembl chrNW_004955404:15,433,962...16,504,351
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955449:16,695,855...16,804,184
Ensembl chrNW_004955449:16,695,435...16,802,908
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) RGD PMID:24593045 RGD:10401929 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004955490:912,615...1,126,347
Ensembl chrNW_004955490:910,415...1,126,373
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Diabetes Mellitus, Experimental
associated with Cholestasis
RGD PMID:1466160 PMID:10499542 PMID:17647196 PMID:19424739 RGD:10003127 RGD:10003128 RGD:10003131 RGD:10003132 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004955490:708,144...758,195
Ensembl chrNW_004955490:709,446...758,272
JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
JBrowse link
G Irs2 insulin receptor substrate 2 ISO associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: RGD PMID:22820932 RGD:7207063 NCBI chrNW_004955404:2,531,484...2,555,383
Ensembl chrNW_004955404:2,531,484...2,555,689
JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9363890 RGD:10403047 NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215
JBrowse link
G Lep leptin treatment ISO protein:increased expression:serum (rat)
human protein in a rat model
associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
RGD PMID:11459801 PMID:12609558 PMID:21376149 PMID:24250662 RGD:10053572 RGD:10053615 RGD:10053630 RGD:5128771 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lgr4 leucine rich repeat containing G protein-coupled receptor 4 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23644456 NCBI chrNW_004955476:6,611,102...6,629,294
Ensembl chrNW_004955476:6,610,103...6,629,264
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
JBrowse link
G LOC102023780 aromatase ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17002564 PMID:20723554 RGD:1625350 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004955490:569,526...678,626
Ensembl chrNW_004955490:571,679...676,059
JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO OMIM
RGD
PMID:21977807 PMID:22704852 RGD:12793063 RGD:7240519 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004955490:448,290...490,242 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955429:15,760,159...15,960,774
Ensembl chrNW_004955429:15,759,540...15,960,835
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Nog noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chrNW_004955407:16,740,253...16,820,297
Ensembl chrNW_004955407:16,740,253...16,820,297
JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955426:25,885,518...25,998,187
Ensembl chrNW_004955426:25,885,518...26,003,743
JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027
JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955486:4,974,130...4,985,927
Ensembl chrNW_004955486:4,969,497...4,985,885
JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO OMIM NCBI chrNW_004955408:3,638,264...3,647,792
Ensembl chrNW_004955408:3,638,264...3,646,600
JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955524:797,439...801,070
Ensembl chrNW_004955524:793,239...801,107
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955450:4,907,962...4,935,179
Ensembl chrNW_004955450:4,907,788...4,936,199
JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955424:16,494,052...16,524,790
Ensembl chrNW_004955424:16,493,960...16,524,998
JBrowse link
G Pls3 plastin 3 ISO OMIM NCBI chrNW_004955490:125,913...221,152
Ensembl chrNW_004955490:122,328...221,388
JBrowse link
G Pnp purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955550:1,290,816...1,299,553
Ensembl chrNW_004955550:1,290,244...1,298,068
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955431:23,640,775...23,651,738
Ensembl chrNW_004955431:23,638,765...23,652,191
JBrowse link
G Psma2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955460:880,795...890,718
Ensembl chrNW_004955460:880,715...893,979
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955435:12,823,137...12,845,631
Ensembl chrNW_004955435:12,822,707...12,846,296
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822
JBrowse link
G Pth parathyroid hormone treatment ISO CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat)
CTD
RGD
PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 PMID:22312238 PMID:23161222 PMID:30639440 RGD:7242793 RGD:7242907 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
G Rab7b RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955406:41,615,302...41,638,157
Ensembl chrNW_004955406:41,615,302...41,638,151
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955429:11,043,205...11,234,698
Ensembl chrNW_004955429:11,043,040...11,235,758
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036
JBrowse link
G Sirt1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129 RGD:10053568 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility
no_association
ISO DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, exon, intron:multiple
RGD
CTD
PMID:18924182 PMID:26336112 RGD:11035299 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD
RGD
PMID:12706579 PMID:17647196 RGD:10003128 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955472:568,939...603,676
Ensembl chrNW_004955472:568,939...603,676
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:17002564 PMID:17882678 RGD:1625350 NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955524:1,419,061...1,432,114
Ensembl chrNW_004955524:1,415,848...1,432,139
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955407:38,895,741...38,909,820 JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253
JBrowse link
G Vdr vitamin D receptor no_association ISO associated with Cystic Fibrosis RGD PMID:16713399 RGD:4889871 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004955549:2,640,193...2,674,818
Ensembl chrNW_004955549:2,640,195...2,673,969
JBrowse link
G Wnt1 Wnt family member 1 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 16
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23499309 PMID:23656646 NCBI chrNW_004955500:7,797,063...7,811,142
Ensembl chrNW_004955500:7,797,060...7,811,167
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chrNW_004955476:105,347...152,415
Ensembl chrNW_004955476:105,347...154,615
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chrNW_004955408:29,644,279...29,665,161
Ensembl chrNW_004955408:29,642,096...29,650,950
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chrNW_004955408:29,644,279...29,665,161
Ensembl chrNW_004955408:29,642,096...29,650,950
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO OMIM NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 SLC9A3 regulator 1 ISO OMIM NCBI chrNW_004955553:1,639,267...1,656,850
Ensembl chrNW_004955553:1,639,267...1,656,850
JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763
JBrowse link
Postmenopausal Osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO protein:increased expression:femur (rat) RGD PMID:19736603 RGD:2315910 NCBI chrNW_004955495:2,418,113...2,421,181
Ensembl chrNW_004955495:2,418,364...2,421,538
JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Bmp15 bone morphogenetic protein 15 susceptibility ISO DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) RGD PMID:22335445 RGD:10045849 NCBI chrNW_004955543:2,304,112...2,345,376 JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26432670 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302
JBrowse link
G Esr1 estrogen receptor 1 treatment
susceptibility
ISO DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
RGD PMID:16604479 PMID:16972020 RGD:10045838 RGD:8158082 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:SNP: :-1213T>C (human)
RGD PMID:16777502 PMID:17945165 PMID:22335445 RGD:10045847 RGD:10045849 RGD:1626507 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
JBrowse link
G Fdps farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chrNW_004955545:1,757,090...1,765,028
Ensembl chrNW_004955545:1,757,418...1,765,028
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chrNW_004955413:2,182,459...2,192,279
Ensembl chrNW_004955413:2,182,459...2,192,279
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:18067744 PMID:24023068 RGD:10402191 RGD:10402540 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chrNW_004955444:2,365,077...2,400,953 JBrowse link
G LOC102023780 aromatase ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chrNW_004955407:16,740,253...16,820,297
Ensembl chrNW_004955407:16,740,253...16,820,297
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chrNW_004955403:49,856,056...49,970,800
Ensembl chrNW_004955403:49,855,541...49,973,225
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human)
ClinVar Annotator: match by term: Postmenopausal osteoporosis
RGD
ClinVar
PMID:16604479 PMID:25741868 RGD:8158082 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO OMIM NCBI chrNW_004955449:11,538,869...11,596,502
Ensembl chrNW_004955449:11,538,889...11,593,349
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DExD/H-box helicase 58 ISO OMIM NCBI chrNW_004955472:3,093,895...3,135,524
Ensembl chrNW_004955472:3,093,939...3,133,987
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 ISO OMIM NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12523
    Diseases of the Aged 966
      osteoporosis 126
        Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
        Diabetic Bone Disease 0
        Female Athlete Triad Syndrome 0
        Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
        Hernandez Fragoso Syndrome 0
        Infantile Multisystem Neurologic Disease with Osseous Fragility 0
        Macroepiphyseal Dysplasia, McAlister Coe Type 0
        Postmenopausal Osteoporosis 25
        Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
        Premature Aging, Okamoto Type 0
        Singleton Merten Syndrome + 2
        Winchester syndrome 1
        glucocorticoid-induced osteoporosis 0
        hypophosphatemic nephrolithiasis/osteoporosis + 3
        idiopathic juvenile osteoporosis 1
Path 2
Term Annotations click to browse term
  disease 12523
    disease of anatomical entity 12204
      Skin and Connective Tissue Diseases 4635
        connective tissue disease 3596
          bone disease 2449
            bone remodeling disease 217
              bone resorption disease 150
                osteoporosis 126
                  Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                  Diabetic Bone Disease 0
                  Female Athlete Triad Syndrome 0
                  Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                  Hernandez Fragoso Syndrome 0
                  Infantile Multisystem Neurologic Disease with Osseous Fragility 0
                  Macroepiphyseal Dysplasia, McAlister Coe Type 0
                  Postmenopausal Osteoporosis 25
                  Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                  Premature Aging, Okamoto Type 0
                  Singleton Merten Syndrome + 2
                  Winchester syndrome 1
                  glucocorticoid-induced osteoporosis 0
                  hypophosphatemic nephrolithiasis/osteoporosis + 3
                  idiopathic juvenile osteoporosis 1
paths to the root