ONTOLOGY REPORT - ANNOTATIONS


Term:Paget's disease of bone
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Accession:DOID:5408 term browser browse the term
Definition:A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.
Synonyms:exact_synonym: Osseous Paget's Disease;   Osteitis Deformans;   Paget Disease of Bone;   Paget Disease, Bone;   Paget's bone disease;   Pagets bone disease
 related_synonym: Familial Paget's disease of bone
 primary_id: MESH:D010001
 alt_id: RDO:0003584
 xref: GARD:8615;   OMIM:PS167250;   ORDO:280110
For additional species annotation, visit the Alliance of Genome Resources.


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Paget's disease of bone term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:11554173
G Dcstamp dendrocyte expressed seven transmembrane protein JBrowse link 7 78,642,016 78,651,763 RGD:11554173
G Inpp5d inositol polyphosphate-5-phosphatase D JBrowse link 9 94,745,220 94,850,778 RGD:13592920
G Mrnip MRN complex interacting protein JBrowse link 10 35,680,687 35,704,685 RGD:8554872
G Nup205 nucleoporin 205 JBrowse link 4 62,703,779 62,773,931 RGD:11554173
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:11554173
G Pml promyelocytic leukemia JBrowse link 8 63,002,515 63,034,310 RGD:11554173
G Rin3 Ras and Rab interactor 3 JBrowse link 6 126,170,672 126,279,682 RGD:11554173
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:1599121
RGD:11554173
RGD:8554872
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:1599463
RGD:8554872
RGD:11554173
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:1620794
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:1599735
G Zfp687 zinc finger protein 687 JBrowse link 2 196,172,266 196,180,946 RGD:11554173
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
RGD:8554872
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:8554872
RGD:7240710
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:7240710
RGD:8554872
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:10059681
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:11554173
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:10395280
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10059681
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:11554173
Paget Disease of Bone 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:6480512
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:8554872
Paget Disease of Bone 2, Early-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:8554872
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:8554872
RGD:7240710
Paget Disease of Bone 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:7240710
Paget Disease of Bone 5, Juvenile-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:8554872
RGD:7240710
Paget Disease of Bone 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp687 zinc finger protein 687 JBrowse link 2 196,172,266 196,180,946 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        bone disease 2125
          Paget's disease of bone 18
            Paget Disease of Bone 1 2
            Paget Disease of Bone 2, Early-Onset 2
            Paget Disease of Bone 3 1
            Paget Disease of Bone 4 0
            Paget Disease of Bone 5, Juvenile-Onset 2
            Paget Disease of Bone 6 1
            inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            bone remodeling disease 420
              hyperostosis 43
                Paget's disease of bone 18
                  Paget Disease of Bone 1 2
                  Paget Disease of Bone 2, Early-Onset 2
                  Paget Disease of Bone 3 1
                  Paget Disease of Bone 4 0
                  Paget Disease of Bone 5, Juvenile-Onset 2
                  Paget Disease of Bone 6 1
                  inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.