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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.



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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 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Infantile cortical hyperostosis
ClinVar Annotator: match by term: Caffey Disease
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)
ClinVar
OMIM
RGD
PMID:2037280 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 More... RGD:5688296, RGD:11667069 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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 More... NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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 term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
RGD
PMID:19268275 PMID:25741868 PMID:19268275 RGD:11344905 NCBI chr 3:141,228,443...141,239,337
Ensembl chr 3:141,228,443...141,239,331
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 chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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: Multiple congenital exostosis
ClinVar Annotator: match by term: Hereditary multiple exostosis
ClinVar Annotator: match by term: Multiple exostoses
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
RGD
PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple congenital exostosis
CTD
ClinVar
PMID:23439489 NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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 chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524
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 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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 Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar
OMIM
PMID:9536098 PMID:11891683 PMID:17576681 PMID:23455423 PMID:25741868 More... NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23455423 RGD:10395280 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
CTD
ClinVar
PMID:16247064 PMID:25492614 PMID:25884947 PMID:26467025 PMID:28492532 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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: Autosomal recessive Kenny-Caffey syndrome
ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1
OMIM
ClinVar
PMID:12389028 PMID:25097779 PMID:25741868 PMID:26336027 PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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:28492532 More... NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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 More... NCBI chr 5:149,677,437...149,778,594 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 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar PMID:28492532 NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921
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 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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 More... NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
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 chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Igf1 insulin-like growth factor 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 More... NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
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:21472776 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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 chr10:34,501,359...34,525,474
Ensembl chr10:34,501,384...34,525,469
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 More... NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
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 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Elevated alkaline phosphatase ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Elevated alkaline phosphatase ClinVar NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533
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 More... NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
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 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISS OMIM:167250 | OMIM:602080 | OMIM:606263 MouseDO NCBI chr 9:88,287,680...88,392,748
Ensembl chr 9:88,287,677...88,392,746
JBrowse link
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Paget disease of bone ClinVar NCBI chr10:34,501,359...34,525,474
Ensembl chr10:34,501,384...34,525,469
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
JBrowse link
G Optn optineurin ISO DNA:SNP: :rs1561570 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20436471 PMID:21059646 PMID:20436471 RGD:6480512 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
JBrowse link
G Rin3 Ras and Rab interactor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 6:121,431,803...121,540,957
Ensembl chr 6:121,431,339...121,540,957
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
RGD
PMID:11992264 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 More... RGD:1599121 NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
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
RGD
PMID:20436471 PMID:24033266 PMID:25741868 PMID:28492532 PMID:10615125 RGD:1599463 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B susceptibility ISO DNA:deletion:exon RGD PMID:12189164 RGD:1620794 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Vcp valosin-containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Zfp687 zinc finger protein 687 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11179006 RGD:68858 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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 chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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 chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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 5:149,677,437...149,778,594 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar PMID:25741868 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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:9536098 PMID:14740318 PMID:17576681 PMID:19603067 PMID:24033266 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
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 OMIM
ClinVar
PMID:1002767 PMID:10434540 PMID:11701785 PMID:11883972 PMID:12015390 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      musculoskeletal system disease 6466
        bone disease 3122
          bone remodeling disease 437
            hyperostosis 44
              Caffey disease + 4
              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 + 20
              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 17286
    disease of anatomical entity 16621
      musculoskeletal system disease 6466
        connective tissue disease 4445
          bone disease 3122
            bone remodeling disease 437
              hyperostosis 44
                Caffey disease + 4
                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 + 20
                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