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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:hyperostosis
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Accession:DOID:205 term browser browse the term
Definition:A bone remodeling disease that results in an abnormal growth of located in bone. (DO)
Synonyms:exact_synonym: Bone Hypertrophies;   Bone Hypertrophy;   Hyperostoses;   hypertrophy of bone
 primary_id: MESH:D015576
 xref: ICD10CM:M89.3;   NCI:C34712
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
Caffey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO ClinVar Annotator: match by term: Hyperostosis, Cortical, Congenital ClinVar PMID:20971946 NCBI chr 7:124,085,832...124,110,440
Ensembl chr 7:124,085,834...124,089,385 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease
ClinVar Annotator: match by term: Infantile cortical hyperostosis
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)		 ClinVar
OMIM		 PMID:2037280 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:11090261 PMID:11317364 PMID:11432962 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:20696291 PMID:21249479 PMID:21567126 PMID:21667357 PMID:21884818 PMID:22589248 PMID:22753364 PMID:24147872 PMID:24390061 PMID:24668929 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27060301 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 PMID:29543232 PMID:29946973, PMID:17309652, PMID:15864348 RGD:5688296, RGD:11667069 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type		 ClinVar
OMIM		 PMID:3975110 PMID:9268097 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:18559376 PMID:25741868 PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671 		JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 ISS OMIM:106400 MouseDO NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005 		JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)		 OMIM
ClinVar		 PMID:19268275, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416 		JBrowse link
exostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Exostoses ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444 		JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary multiple exostosis
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar Annotator: match by term: Multiple exostoses
ClinVar Annotator: match by term: MULTIPLE OSTEOCHONDROMAS
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11169766 PMID:11170095 PMID:11342960 PMID:11391482 PMID:11432960 PMID:11668521 PMID:12032595 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16283885 PMID:17041877 PMID:17301954 PMID:17589361 PMID:18165274 PMID:18330718 PMID:18373409 PMID:18976157 PMID:19344451 PMID:19810120 PMID:19839753 PMID:20025490 PMID:20080592 PMID:20418910 PMID:21039224 PMID:21280143 PMID:21499719 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22913777 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25541963 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26622573 PMID:26690531 PMID:26961984 PMID:28492532 PMID:28690282 PMID:29126381 PMID:29529714 PMID:29620724 PMID:29989442 PMID:30311386 PMID:30334991 PMID:30806661, PMID:8981950, PMID:17767039, PMID:17767039, PMID:25421355, PMID:12490068, PMID:24297320, PMID:18330718, PMID:26839764 RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23439489 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999 		JBrowse link
Hyperostosis Cranialis Interna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hyperostosis cranialis interna ClinVar
OMIM		 PMID:2300107 PMID:29621230 NCBI chr15:51,982,872...52,029,841
Ensembl chr15:51,982,982...52,029,816 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:17889967 PMID:18341608 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24123792 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26555887 PMID:26627873 PMID:27165006 PMID:27226613 PMID:27768726 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28692196 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 ClinVar
OMIM		 PMID:11891683 PMID:23455423 PMID:25741868 PMID:28492532 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
ClinVar Annotator: match by OMIM:615424		 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585 		JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:23455423 RGD:10395280 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 OMIM
ClinVar		 PMID:12389028 PMID:25097779 PMID:25741868 PMID:26336027 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027 		JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2
ClinVar Annotator: match by OMIM:127000		 OMIM
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:29073591 PMID:32996714 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29901129 PMID:30311386 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893 		JBrowse link
metachondromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
ClinVar Annotator: match by OMIM:156250		 OMIM
ClinVar		 PMID:9491886 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12634870 PMID:12717436 PMID:12960218 PMID:14634749 PMID:14644997 PMID:14961557 PMID:14974085 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15712196 PMID:15723289 PMID:15761018 PMID:15834506 PMID:15928039 PMID:15929108 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16078230 PMID:16124853 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16498234 PMID:16638574 PMID:16679933 PMID:16804314 PMID:17020470 PMID:17143285 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17661820 PMID:17935252 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18470943 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:19020799 PMID:19054014 PMID:19077116 PMID:19133693 PMID:19174044 PMID:19352411 PMID:19449407 PMID:19509418 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19825837 PMID:19864201 PMID:20186801 PMID:20308328 PMID:20493809 PMID:20535210 PMID:20577567 PMID:20718194 PMID:20883402 PMID:20979190 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21407260 PMID:21533187 PMID:21567923 PMID:21590266 PMID:21706501 PMID:21747628 PMID:21901340 PMID:21910245 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22411627 PMID:22465605 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22781091 PMID:22822385 PMID:22923420 PMID:23312806 PMID:23317994 PMID:23334668 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:24033266 PMID:24037001 PMID:24183200 PMID:24401936 PMID:24451042 PMID:24628801 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24935154 PMID:25231023 PMID:25326637 PMID:25337068 PMID:25500235 PMID:25544017 PMID:25585602 PMID:25595571 PMID:25612910 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25917897 PMID:26206283 PMID:26337637 PMID:26467025 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27153395 PMID:27238887 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27626068 PMID:27659786 PMID:28051113 PMID:28074573 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28957739 PMID:29276006 PMID:29493581 PMID:30311386 PMID:32581362 PMID:32860008 PMID:32963807 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124 		JBrowse link
Multiple Exostoses Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11391482 PMID:11432960 PMID:15253765 PMID:16283885 PMID:17041877 PMID:18165274 PMID:18330718 PMID:19810120 PMID:20418910 PMID:22258776 PMID:23439489 PMID:24532482 PMID:25230886 PMID:25468659 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26961984 PMID:28492532 PMID:29126381 PMID:30806661 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068 		JBrowse link
Multiple Exostoses Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple exostoses type 2
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II
ClinVar Annotator: match by OMIM:133701		 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:10480354 PMID:10671060 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11169766 PMID:11170095 PMID:11432960 PMID:11668521 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15586175 PMID:15796962 PMID:16088908 PMID:16283885 PMID:17041877 PMID:17301954 PMID:17589361 PMID:18165274 PMID:18373409 PMID:18666861 PMID:18976157 PMID:19309273 PMID:19344451 PMID:19504431 PMID:19810120 PMID:19839753 PMID:20425833 PMID:21520333 PMID:22382802 PMID:22820392 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24496678 PMID:24532482 PMID:24728327 PMID:24728384 PMID:25230886 PMID:25449079 PMID:25468659 PMID:25591329 PMID:25741868 PMID:25744876 PMID:26246518 PMID:26961984 PMID:28492532 PMID:28690282 PMID:28849184 PMID:29126381 PMID:29529714 PMID:30288735 PMID:30334991 PMID:30806661 PMID:30997052 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533 		JBrowse link
Osteophytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609 		JBrowse link
Paget Disease of Bone 2, Early-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Paget disease of bone 2, early-onset ClinVar PMID:11992264 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16813535 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:23417734 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24899140 PMID:25241215 PMID:25741868 PMID:26467025 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29599744 PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Paget disease of bone 2, early-onset ClinVar
OMIM		 PMID:10615125 PMID:11771666 PMID:12568416 PMID:17447113 PMID:25063546 PMID:25741868 PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
Paget Disease of Bone 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Paget disease of bone 3 ClinVar NCBI chr10:35,680,687...35,704,685
Ensembl chr10:35,680,658...35,704,776 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Paget disease of bone 3 OMIM
ClinVar		 PMID:11992264 PMID:12374763 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16813535 PMID:17129171 PMID:17188686 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:23303844 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25512523 PMID:25741868 PMID:25796131 PMID:25852467 PMID:26208961 PMID:26467025 PMID:26627873 PMID:26713335 PMID:26836416 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29599744 PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294 		JBrowse link
Paget Disease of Bone 5, Juvenile-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease ClinVar PMID:106682 PMID:12124406 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease ClinVar
OMIM		 PMID:106682 PMID:12124406 PMID:12189164 PMID:14672344 PMID:19436932 PMID:23837846 PMID:25108083 PMID:25741868 PMID:28492532 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665 		JBrowse link
Paget Disease of Bone 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: PAGET DISEASE OF BONE 6
ClinVar Annotator: match by term: Paget disease of bone 6		 ClinVar
OMIM		 PMID:15123951 PMID:22936311 PMID:25741868 PMID:26849110 NCBI chr 2:196,172,266...196,180,946
Ensembl chr 2:196,172,712...196,177,775 		JBrowse link
Paget's disease of bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1 colony stimulating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436471 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 7:78,642,016...78,651,763
Ensembl chr 7:78,649,875...78,650,906 		JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISS OMIM:167250 | OMIM:602080 | OMIM:606263 MouseDO NCBI chr 9:94,745,220...94,850,778
Ensembl chr 9:94,745,217...94,850,771 		JBrowse link
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Paget disease of bone ClinVar NCBI chr10:35,680,687...35,704,685
Ensembl chr10:35,680,658...35,704,776 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923 		JBrowse link
G Optn optineurin ISO DNA:SNP: :rs1561570 (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:20436471 PMID:21059646, PMID:20436471 RGD:6480512 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 6:126,170,672...126,279,682
Ensembl chr 6:126,170,720...126,279,682 		JBrowse link
G Sqstm1 sequestosome 1 ISO DNA:point mutation: :p.P392L (human)
ClinVar Annotator: match by term: Paget disease of bone, familial
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteitis deformans		 ClinVar
CTD		 PMID:11992264 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16813535 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:23417734 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24899140 PMID:25241215 PMID:25741868 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29599744 PMID:30154079, PMID:11992264 RGD:1599121 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO Paget disease of bone, OMIM:602080
ClinVar Annotator: match by term: Paget disease of bone
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:20436471 PMID:24033266 PMID:25741868 PMID:28492532, PMID:10615125 RGD:1599463 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B susceptibility ISO DNA:deletion:exon RGD PMID:12189164 RGD:1620794 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665 		JBrowse link
G Vcp valosin-containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
G Zfp687 zinc finger protein 687 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:196,172,266...196,180,946
Ensembl chr 2:196,172,712...196,177,775 		JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		JBrowse link
sclerosteosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679 		JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:11179006 RGD:68858 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131 		JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Sclerosteosis 1 ClinVar
OMIM		 PMID:9712543 PMID:11179006 PMID:11181578 PMID:28492532 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131 		JBrowse link
sclerosteosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Sclerosteosis 2
ClinVar Annotator: match by OMIM:614305		 OMIM
ClinVar		 PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679 		JBrowse link
SOST-related sclerosing bone dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO OMIM NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131 		JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by OMIM:601559
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14740318 PMID:19603067 PMID:24033266 PMID:24988918 PMID:25326635 PMID:25540807 PMID:25741868 PMID:26752647 PMID:28334964 PMID:28492532 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415 		JBrowse link
Worth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Worth disease
ClinVar Annotator: match by OMIM:607636		 OMIM
ClinVar		 PMID:10434540 PMID:12015390 PMID:12579474 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        bone disease 3538
          bone remodeling disease 429
            hyperostosis 43
              Caffey disease + 5
              Calvarial Hyperostosis 0
              Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
              Hyperostosis Cranialis Interna 1
              Hyperostosis Frontalis Interna + 0
              Paget's disease of bone + 18
              Polyosteolysis-Hyperostosis Syndrome 0
              SOST-related sclerosing bone dysplasia 1
              Schwartz-Lelek Syndrome 1
              Sternocostoclavicular Hyperostosis 0
              Worth syndrome 1
              diffuse idiopathic skeletal hyperostosis + 1
              exostosis + 12
              sclerosteosis + 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone remodeling disease 429
              hyperostosis 43
                Caffey disease + 5
                Calvarial Hyperostosis 0
                Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
                Hyperostosis Cranialis Interna 1
                Hyperostosis Frontalis Interna + 0
                Paget's disease of bone + 18
                Polyosteolysis-Hyperostosis Syndrome 0
                SOST-related sclerosing bone dysplasia 1
                Schwartz-Lelek Syndrome 1
                Sternocostoclavicular Hyperostosis 0
                Worth syndrome 1
                diffuse idiopathic skeletal hyperostosis + 1
                exostosis + 12
                sclerosteosis + 2
paths to the root