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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 Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hyperostosis ClinVar PMID:25741868 PMID:31089205 NCBI chr 2:184,111,570...184,129,200 JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 1:176,942,901...176,946,034 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 ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 PMID:28492532 NCBI chr 7:114,368,525...114,392,872 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)
ClinVar
CTD
OMIM
RGD
PMID:1770532 PMID:2037280 PMID:2542316 PMID:2794057 PMID:2894346 More... RGD:5688296, RGD:11667069 NCBI chr10:80,380,458...80,397,461 JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 8:119,617,077...119,623,215 JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
OMIM
CTD
ClinVar
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 8:119,572,295...119,597,405 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 9:22,897,099...22,911,640 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
CTD
ClinVar
RGD
PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 3:141,228,443...141,239,337 JBrowse link
exostosis 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 ClinVar PMID:10679937 PMID:11391482 PMID:16199547 PMID:18165274 PMID:19810120 More... NCBI chr 7:86,265,651...86,544,488 JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Exostosis ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589 JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,254,322...85,259,163 JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,983,788...87,990,810 JBrowse link
G Col14a1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,611,827...88,826,939 JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,634,686...87,695,465 JBrowse link
G Deptor DEP domain containing MTOR-interacting protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,404,745...88,574,065 JBrowse link
G Dscc1 DNA replication and sister chromatid cohesion 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,372,349...88,390,815 JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:84,980,891...85,064,284 JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,092,140...88,214,758 JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO
ISS
DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
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)
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
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 7:86,265,651...86,544,488 JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas
CTD
MouseDO
ClinVar
PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr 3:100,120,776...100,253,424 JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,790,239...87,823,219 JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,894,638...85,916,373 JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,841,265...88,862,821 JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,862,939...88,945,491 JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:41,026,079...41,085,577 JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,177,715...85,204,657 JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:86,658,709...86,953,879 JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,481,864...85,517,255 JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,950,642...89,219,017 JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:88,312,374...88,369,399 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 7:87,456,318...87,484,324 JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,806,121...84,032,609 JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,074,713...85,084,766 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 OMIM
ClinVar
PMID:2300107 PMID:25741868 PMID:28492532 PMID:28541650 PMID:29621230 More... NCBI chr15:51,786,517...51,833,260 JBrowse link
inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar
PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr16:1,419,627...1,464,590 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 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 5:62,005,984...62,025,387 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: HNRNPA2B1-related condition | 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 Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2
OMIM
ClinVar
PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr 4:81,867,354...81,875,886 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 OMIM
ClinVar
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:136,253,633...136,260,085 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 2:220,893,660...220,976,331 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
CTD
ClinVar
PMID:23455423 PMID:25741868 NCBI chr 7:136,253,633...136,260,085 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 4:81,867,354...81,875,886 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Vcp valosin-containing protein ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
CTD
ClinVar
MouseDO
PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 5:62,005,984...62,025,387 JBrowse link
Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome ClinVar PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr17:51,334,921...51,377,469 JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1
OMIM
CTD
ClinVar
PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr17:51,290,143...51,336,090 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
OMIM
CTD
ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:209,640,865...209,656,551 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 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:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:154,960,818...155,061,971 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 5:155,062,172...155,070,752 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:41,026,079...41,085,577 JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:41,008,142...41,012,756 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:9463333 PMID:9521425 More... NCBI chr 7:86,265,651...86,544,488 JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:100,120,776...100,253,424 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: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar
PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr 3:100,120,776...100,253,424 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 chr10:91,727,883...91,729,860 JBrowse link
G Igf1 insulin-like growth factor 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr 7:24,169,608...24,249,446 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 2:198,065,400...198,084,774 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 JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Paget disease of bone ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:20,342,430...20,394,660 JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISS OMIM:167250 | OMIM:602080 | OMIM:606263 MouseDO NCBI chr 9:95,735,533...95,840,584 JBrowse link
G Mrnip MRN complex interacting protein ISO ClinVar Annotator: match by term: Bone Paget disease ClinVar PMID:25741868 NCBI chr10:35,002,440...35,026,555 JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 4:63,854,934...63,920,852 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 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 JBrowse link
G Rin3 Ras and Rab interactor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 6:127,196,648...127,305,821 JBrowse link
G Sqstm1 sequestosome 1 ISO
ISS
DNA:point mutation: :p.P392L (human)
ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone, familial
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 More... RGD:1599121 NCBI chr10:35,026,598...35,037,750 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO
ISS
Paget disease of bone, OMIM:602080
ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
RGD
PMID:20436471 PMID:24033266 PMID:25741868 PMID:28492532 PMID:10615125 RGD:1599463 NCBI chr13:22,442,930...22,501,257 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B susceptibility ISO DNA:deletion:exon RGD PMID:12189164 RGD:1620794 NCBI chr 7:87,456,318...87,484,324 JBrowse link
G Vcp valosin-containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 5:62,005,984...62,025,387 JBrowse link
G Zfp687 zinc finger protein 687 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:182,572,893...182,581,641 JBrowse link
Paget's disease of bone 2 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 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset ClinVar PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15146436 More... NCBI chr10:35,026,598...35,037,750 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset OMIM
ClinVar
PMID:9536098 PMID:10615125 PMID:11771666 PMID:12568416 PMID:17447113 More... NCBI chr13:22,442,930...22,501,257 JBrowse link
Paget's 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 PMID:25741868 NCBI chr10:35,002,440...35,026,555 JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Paget disease of bone 3 OMIM
ClinVar
PMID:11473345 PMID:11992264 PMID:12374763 PMID:15125799 PMID:15176995 More... NCBI chr10:35,026,598...35,037,750 JBrowse link
Paget's disease of bone 5 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 7:87,634,686...87,695,465 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar Annotator: match by term: TNFRSF11B-related condition OMIM
ClinVar
PMID:106682 PMID:12124406 PMID:12189164 PMID:14672344 PMID:19436932 More... NCBI chr 7:87,456,318...87,484,324 JBrowse link
Paget's 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: ZNF687-related condition OMIM
ClinVar
PMID:9536098 PMID:15123951 PMID:17576681 PMID:22936311 PMID:25741868 More... NCBI chr 2:182,572,893...182,581,641 JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,153,027...78,280,181 JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:36,302,490...36,315,010 JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,290,437...78,316,633 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 JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
ClinVar Annotator: match by term: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:25741868 PMID:28492532 PMID:11179006 RGD:68858 NCBI chr10:87,412,722...87,415,766 JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO
ISS
ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1
OMIM:269500
OMIM
ClinVar
MouseDO
PMID:11179006 PMID:11181578 PMID:19072561 PMID:21221996 PMID:25741868 More... NCBI chr10:87,412,722...87,415,766 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
ISS
ClinVar Annotator: match by term: Sclerosteosis 2
OMIM:614305
OMIM
ClinVar
MouseDO
PMID:7891385 PMID:9536098 PMID:11385236 PMID:17576681 PMID:21471202 More... NCBI chr 3:77,429,600...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 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 5:6,715,935...6,735,013 JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Elevated alkaline phosphatase ClinVar PMID:28492532 NCBI chr 5:145,889,642...145,901,533 JBrowse link
G Sost sclerostin ISS OMIM:239100 MouseDO NCBI chr10:87,412,722...87,415,766 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 PMID:28492532 NCBI chr 5:154,960,818...155,061,971 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 2:45,798,872...45,839,501 JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:57,951,787...58,020,357 JBrowse link
Stuve-Wiedemann Syndrome 1 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: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:154,960,818...155,061,971 JBrowse link
G Lifr LIF receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
ClinVar Annotator: match by term: LIFR-related condition | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
OMIM
CTD
ClinVar
PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:57,951,787...58,020,357 JBrowse link
Stuve-Wiedemann Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:37,196,765...37,285,955 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:62,471,246...62,477,812 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 2:45,798,872...45,839,501 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:62,424,185...62,471,317 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: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr 1:200,814,247...200,917,581 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        bone disease 4362
          bone remodeling disease 508
            hyperostosis 72
              Caffey disease + 5
              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 3
              Schwartz-Lelek Syndrome 3
              Sternocostoclavicular Hyperostosis 0
              Worth syndrome 1
              diffuse idiopathic skeletal hyperostosis + 1
              exostosis + 36
              sclerosteosis + 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          bone disease 4362
            bone remodeling disease 508
              hyperostosis 72
                Caffey disease + 5
                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 3
                Schwartz-Lelek Syndrome 3
                Sternocostoclavicular Hyperostosis 0
                Worth syndrome 1
                diffuse idiopathic skeletal hyperostosis + 1
                exostosis + 36
                sclerosteosis + 2
paths to the root