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
Accession: DOID:5408
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 disease of bone, familial; 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: GARD:8615 ; ICD10CM:M88 ; NCI:C3292 ; OMIM:PS167250 ; ORDO:280110
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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:27538664 PMID:27768726 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28692196 PMID:31848255
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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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
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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
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Egf
epidermal growth factor
ISO
protein:increased expression:plasma
RGD
PMID:24119107
RGD:10059681
NCBI chr 2:68,820,616...68,895,537
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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