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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:Paget's disease of bone
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Accession:DOID:5408 term browser browse the term
Definition:A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. (DO)
Synonyms:exact_synonym: Osseous Paget's Disease;   Osteitis Deformans;   Paget disease of bone;   Paget disease of bone, familial;   Paget disease, bone;   Paget's bone disease;   Pagets bone disease
 related_synonym: Paget disease of bone 1;   Paget disease of bone, type 1;   familial Paget's disease of bone
 primary_id: MESH:D010001
 alt_id: MESH:C538098
 xref: EFO:0004261;   GARD:8615;   ICD10CM:M88;   MIM:PS167250;   NCI:C3292;   ORDO:280110
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
Ensembl chr 2:198,065,405...198,084,468 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 7:72,692,364...72,706,983
Ensembl chr 7:72,671,477...72,707,009 		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 8:28,618,523...28,670,741
Ensembl chr 8:28,618,523...28,670,648 		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
Ensembl chr 9:95,735,530...95,840,589 		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 4:64,822,051...64,887,996
Ensembl chr 4:64,822,065...64,887,988 		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 chr17:78,118,847...78,169,543
Ensembl chr17:78,118,866...78,169,543 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:21623375 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:67,523,164...67,576,083 		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
Ensembl chr 6:127,196,632...127,305,821 		JBrowse link
G Sqstm1 sequestosome 1 ISO
ISS 		DNA:point mutation: :p.P392L (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Osteitis deformans 		CTD
MouseDO
ClinVar
RGD		 PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 More... RGD:1599121 NCBI chr10:35,026,598...35,037,750
Ensembl chr10:35,026,598...35,037,750 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO
ISS 		Paget disease of bone, OMIM:602080
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone 		CTD
ClinVar
MouseDO
RGD		 PMID:20436471 PMID:24033266 PMID:25741868 PMID:28492532 PMID:10615125 RGD:1599463 NCBI chr13:22,442,930...22,501,257
Ensembl chr13:22,442,665...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
Ensembl chr 7:87,456,319...87,485,075 		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
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
G Zfp687 zinc finger protein 687 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:185,261,903...185,270,651
Ensembl chr 2:185,261,903...185,270,641 		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
Ensembl chr16:1,418,351...1,464,839 		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
Ensembl chr 5:62,005,985...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
Ensembl chr 4:81,869,661...81,877,572 		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 term: MULTISYSTEM PROTEINOPATHY 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...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
Ensembl chr 2:220,893,660...220,976,297 		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
Ensembl chr 7:136,253,278...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
Ensembl chr 4:81,869,661...81,877,572 		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
Ensembl chr20:3,626,532...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
Ensembl chr 5:62,005,985...62,025,387 		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
Ensembl 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
Ensembl chr13:22,442,665...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
Ensembl 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
Ensembl chr 7:87,634,654...87,699,534 		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
Ensembl chr 7:87,456,319...87,485,075 		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 2:185,261,903...185,270,651
Ensembl chr 2:185,261,903...185,270,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        bone disease 4398
          bone remodeling disease 512
            hyperostosis 72
              Paget's disease of bone 20
                Paget's disease of bone 2 2
                Paget's disease of bone 3 2
                Paget's disease of bone 4 0
                Paget's disease of bone 5 2
                Paget's disease of bone 6 1
                inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone remodeling disease 512
              hyperostosis 72
                Paget's disease of bone 20
                  Paget's disease of bone 2 2
                  Paget's disease of bone 3 2
                  Paget's disease of bone 4 0
                  Paget's disease of bone 5 2
                  Paget's disease of bone 6 1
                  inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
paths to the root