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: Postmenopausal Osteoporosis
Accession: DOID:9004914
browse the term
Definition: Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.
Synonyms: exact_synonym: Post-Menopausal Osteoporoses; Postmenopausal Bone Loss; Postmenopausal Bone Losses; perimenopausal bone loss; perimenopausal bone losses; post-menopausal osteoporosis; postmenopausal osteoporoses
primary_id: MESH:D015663
alt_id: RDO:0006911
xref: EFO:0003854
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Acp5
acid phosphatase 5, tartrate resistant
IEP
protein:increased expression:femur (rat)
RGD
PMID:19736603
RGD:2315910
NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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Ar
androgen receptor
ISO
RGD
PMID:12593895
RGD:1578682
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Bmp15
bone morphogenetic protein 15
susceptibility
ISO
DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human)
RGD
PMID:22335445
RGD:10045849
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17227729
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15241796 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:22855962 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27509835 PMID:27510842 PMID:27519266 PMID:28378289 PMID:28492532 PMID:28810924 PMID:31447884 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 More...
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:16786509 PMID:16879195 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:22753364 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26307460 PMID:26432670 PMID:26604951 PMID:27519266 PMID:28017821 PMID:28492532 PMID:28518168 PMID:32461654 PMID:32659730 More...
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
DNA:snps:exon:multiple (human)
RGD
PMID:17118999
RGD:1600860
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Esr1
estrogen receptor 1
treatment susceptibility
ISO
DNA:SNP:intron:IVS1T>C (human) DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
RGD
PMID:16604479 PMID:16972020
RGD:8158082 , RGD:10045838
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
susceptibility
ISO
DNA:SNP: :-1213T>C (human) DNA:repeat:intron:IVS5-3919(CA)18-26 (human) DNA:SNP, haplotype:3'utr:*39A>G (human)
RGD
PMID:16777502 PMID:17945165 PMID:22335445
RGD:1626507 , RGD:10045847 , RGD:10045849
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fdps
farnesyl diphosphate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31774873
NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
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Fgf23
fibroblast growth factor 23
ISO
protein:increased expression: :
RGD
PMID:24101107
RGD:10044241
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IMP ISO
RGD
PMID:24023068 PMID:18067744
RGD:10402191 , RGD:10402540
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Ifitm5
interferon induced transmembrane protein 5
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 PMID:28492532 PMID:28725987 PMID:31099171 PMID:31159867 PMID:32383316 More...
NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:serum:
RGD
PMID:11063288
RGD:10045861
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf2
insulin-like growth factor 2
treatment
ISO
RGD
PMID:16753016
RGD:10402556
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7
interleukin 7
treatment
ISO
RGD
PMID:23662133
RGD:10402930
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Lrp5
LDL receptor related protein 5
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:24715757 PMID:25741868 PMID:28492532
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Nfatc1
nuclear factor of activated T-cells 1
treatment
IEP
RGD
PMID:31399090
RGD:329328926
NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Nrip1
nuclear receptor interacting protein 1
susceptibility
ISO
DNA:silent mutation:cds:p.G75G (human)
RGD
PMID:22335445
RGD:10045849
NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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Pgghg
protein-glucosylgalactosylhydroxylysine glucosidase
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 PMID:28492532 PMID:28725987 PMID:31099171 PMID:31159867 PMID:32383316 More...
NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372
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Pls3
plastin 3
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:25741868
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
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Ptger4
prostaglandin E receptor 4
treatment
IMP
RGD
PMID:11917107
RGD:10003045
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20567999
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptk2b
protein tyrosine kinase 2 beta
IMP
RGD
PMID:17537919
RGD:1642610
NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10750555
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vdr
vitamin D receptor
treatment
ISO
DNA:SNP:exon: (rs2228570) (human)
GAD RGD
PMID:15118671 PMID:16604479
RGD:1331525 , RGD:8158082
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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