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encyclopedia of Rare Disease Annotation for Precision Medicine

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	polymyalgia rheumatica

Disease ID	133
Disease	polymyalgia rheumatica
Definition	A syndrome in the elderly characterized by proximal joint and muscle pain, high erythrocyte sedimentation rate, and a self-limiting course. Pain is usually accompanied by evidence of an inflammatory reaction. Women are affected twice as commonly as men and Caucasians more frequently than other groups. The condition is frequently associated with GIANT CELL ARTERITIS and some theories pose the possibility that the two diseases arise from a single etiology or even that they are the same entity.
Synonym	arthritis, senile forestier certonciny syndrome forestier-certonciny syndrome myalgic syndrome of the aged peri-extra-articular rheumatism pmr pmr - polymyalgia rheumatica polymyalgia (& [rheumatica]) polymyalgia (& [rheumatica]) (disorder) polymyalgia arteritica polymyalgia rheumatica (disorder) polymyalgia rheumatica (pmr) polymyalgia rheumatica [disease/finding] polymyalgia rheumatica [dup] (disorder) rheumatism, peri extra articular rheumatism, peri-extra-articular senile arthritis syndrome, forestier-certonciny
Orphanet	ORPHANET:93569
OMIM	OMIM:187360
DOID	DOID:853
ICD10	ICD10CM:M35.3
UMLS	C0032533
MeSH	D011111
SNOMED-CT	SNOMEDCT_US_2016_09_01:65323003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:26) C0039483 \| giant cell arteritis \| 6 C0042384 \| vasculitis \| 3 C0031039 \| pericardial effusion \| 2 C0023890 \| cirrhosis \| 1 C0039103 \| synovitis \| 1 C0342388 \| acth deficiency \| 1 C0032285 \| pneumonia \| 1 C0022658 \| nephropathy \| 1 C1956391 \| temporal arteritis \| 1 C0007112 \| prostate adenocarcinoma \| 1 C0021400 \| influenza \| 1 C0007102 \| colon cancer \| 1 C0349632 \| splenic marginal zone lymphoma \| 1 C0027721 \| minimal change nephropathy \| 1 C0001418 \| adenocarcinoma \| 1 C0017658 \| glomerulonephritis \| 1 C0019069 \| haemophilia \| 1 C0023891 \| alcoholic cirrhosis \| 1 C0242379 \| lung cancer \| 1 C0038531 \| subclavian artery stenosis \| 1 C0029456 \| osteoporosis \| 1 C0003864 \| arthritis \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0027121 \| myositis \| 1 C0006142 \| breast cancer \| 1 C0039520 \| tenosynovitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1234 \| CCR5 \| CIPHER 1392 \| CRH \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:37) 340351 \| AGBL3 \| 1.955 \| DISEASES 270 \| AMPD1 \| 1.513 \| DISEASES 10665 \| C6orf10 \| 2.876 \| DISEASES 959 \| CD40LG \| 2.734 \| DISEASES 9308 \| CD83 \| 1.846 \| DISEASES 1025 \| CDK9 \| 2.043 \| DISEASES 10878 \| CFHR3 \| 1.673 \| DISEASES 5394 \| EXOSC10 \| 1.054 \| DISEASES 2157 \| F8 \| 1.85 \| DISEASES 2204 \| FCAR \| 1.577 \| DISEASES 2821 \| GPI \| 1.188 \| DISEASES 3105 \| HLA-A \| 1.301 \| DISEASES 3117 \| HLA-DQA1 \| 1.28 \| DISEASES 3118 \| HLA-DQA2 \| 1.046 \| DISEASES 3119 \| HLA-DQB1 \| 1.385 \| DISEASES 3120 \| HLA-DQB2 \| 1.498 \| DISEASES 3123 \| HLA-DRB1 \| 4.313 \| DISEASES 3127 \| HLA-DRB5 \| 1.777 \| DISEASES 3240 \| HP \| 1.374 \| DISEASES 219844 \| HYLS1 \| 1.219 \| DISEASES 3459 \| IFNGR1 \| 1.31 \| DISEASES 3586 \| IL10 \| 1.531 \| DISEASES 84823 \| LMNB2 \| 2.085 \| DISEASES 79104 \| MEG8 \| 2.969 \| DISEASES 378884 \| NHLRC1 \| 1.283 \| DISEASES 5133 \| PDCD1 \| 1.291 \| DISEASES 6288 \| SAA1 \| 1.243 \| DISEASES 1757 \| SARDH \| 2.066 \| DISEASES 12 \| SERPINA3 \| 2.561 \| DISEASES 23583 \| SMUG1 \| 3.928 \| DISEASES 6892 \| TAPBP \| 1.29 \| DISEASES 6938 \| TCF12 \| 1.602 \| DISEASES 54790 \| TET2 \| 1.631 \| DISEASES 7124 \| TNF \| 2.797 \| DISEASES 7133 \| TNFRSF1B \| 2.322 \| DISEASES 8718 \| TNFRSF25 \| 2.187 \| DISEASES 10673 \| TNFSF13B \| 1.205 \| DISEASES
Locus	(Waiting for update.)

Disease ID	133
Disease	polymyalgia rheumatica
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0012089 \| Arteritis \| 7 HP:0002633 \| Vasculitis \| 3 HP:0001698 \| Pericardial effusions \| 2 HP:0000112 \| Nephropathy \| 1 HP:0005310 \| Large vessel vasculitis \| 1 HP:0002090 \| Pneumonia \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0001369 \| Arthritis \| 1 HP:0011748 \| Adrenocorticotropic hormone deficiency \| 1 HP:0100790 \| Hernia \| 1 HP:0100769 \| Synovitis \| 1 HP:0001513 \| Obesity \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0003003 \| Colon cancer \| 1 HP:0002829 \| Arthralgias \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0012579 \| Minimal change glomerulonephritis \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1

Disease ID	133
Disease	polymyalgia rheumatica
Manually Symptom	UMLS \| Name(Total Manually Symptoms:39) C2712035 \| hyperglycaemia C2700533 \| cytochrome c oxidase deficiency C2364133 \| infection C2039684 \| systemic symptoms C1963274 \| vasculitis C1963154 \| renal failure C1956391 \| temporal arteritis C1704436 \| peripheral arterial disease C0836924 \| thrombocytosis C0745754 \| hepatic granuloma C0729233 \| dissecting thoracic aortic aneurysm C0442893 \| systemic disease C0427008 \| stiffness C0410130 \| retrocalcaneal bursitis C0333243 \| pitting edema C0281479 \| systemic amyloidosis C0264684 \| coronary arteritis C0242770 \| bronchiolitis obliterans organizing pneumonia C0231443 \| musculoskeletal symptoms C0042790 \| vision disorders C0039483 \| giant cell arteritis C0039103 \| synovitis C0037926 \| spinal cord compression C0034069 \| pulmonary fibrosis C0026986 \| myelodysplastic syndrome C0026857 \| musculoskeletal disorder C0023449 \| acute lymphoblastic leukaemia C0020676 \| hypothyroidism C0019825 \| hoarseness C0019189 \| chronic hepatitis C0015645 \| fasciitis C0012736 \| dissecting aortic aneurysm C0012569 \| diplopia C0007286 \| carpal tunnel syndrome C0007222 \| cardiovascular diseases C0003864 \| joint inflammation C0003864 \| inflammatory arthritis C0003864 \| arthritis C0003509 \| aortitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0039483 \| giant cell arteritis \| 6 C0042384 \| vasculitis \| 3 C0427008 \| stiffness \| 2 C1956391 \| temporal arteritis \| 1 C0003864 \| arthritis \| 1 C0039103 \| synovitis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs41322052	26314610	4846	NOS3	umls:C0032533	BeFree	T-786C single nucleotide polymorphism of the endothelial nitric oxide synthase gene as a risk factor for endothelial dysfunction in polymyalgia rheumatica.	0.000271442	2015	NOS3	7	150993018	C	T
rs41322052	26314610	3586	IL10	umls:C0032533	BeFree	We investigated the association of the T-786C single nucleotide polymorphism (SNP) of the endothelial nitric oxide synthase gene (NOS3), which is characterised by reduced expression of the enzyme in response to shear stress or interleukin-10 stimulation and significantly associated with coronary heart disease or rheumatoid arthritis, with the occurrence of isolated polymyalgia rheumatica.	0.000542884	2015	NOS3	7	150993018	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	133
Disease	polymyalgia rheumatica
Case	(Waiting for update.)

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