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encyclopedia of Rare Disease Annotation for Precision Medicine

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	posterior uveitis

Disease ID	1100
Disease	posterior uveitis
Definition	Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.
Synonym	posterior uveitis (disorder) posterior uveitis nos posterior uveitis nos (disorder) posterior uveitis, nos uveitis posterior uveitis, posterior uveitis, posterior [disease/finding] uveitis, posterior nos
Orphanet	ORPHANET:280892
DOID	DOID:12574
UMLS	C0042167
MeSH	D015866
SNOMED-CT	SNOMEDCT_US_2016_09_01:43363007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C0004943 \| behcet's disease \| 3 C0042384 \| vasculitis \| 3 C0042164 \| uveitis \| 3 C0040561 \| ocular toxoplasmosis \| 2 C0152026 \| retinal vasculitis \| 2 C0040558 \| toxoplasmosis \| 2 C0042164 \| intraocular inflammation \| 2 C0024441 \| macular hole \| 2 C0039128 \| syphilis \| 1 C0271051 \| macular edema \| 1 C0006123 \| branch retinal artery occlusion \| 1 C0035326 \| retinal vascular occlusion \| 1 C0035305 \| retinal detachment \| 1 C0042769 \| virus infection \| 1 C0030343 \| panuveitis \| 1 C0042165 \| anterior uveitis \| 1 C0035302 \| retinal artery occlusion \| 1 C0036202 \| sarcoidosis \| 1 C0014038 \| encephalitis \| 1 C0086543 \| cataract \| 1 C0035305 \| retinal detachments \| 1 C0041296 \| tuberculosis \| 1 C0024441 \| macular holes \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:31) 959 \| CD40LG \| 2.675 \| DISEASES 629 \| CFB \| 1.036 \| DISEASES 3075 \| CFH \| 1.362 \| DISEASES 1717 \| DHCR7 \| 1.262 \| DISEASES 64167 \| ERAP2 \| 2.219 \| DISEASES 2886 \| GRB7 \| 1.733 \| DISEASES 3105 \| HLA-A \| 2.605 \| DISEASES 3106 \| HLA-B \| 2.496 \| DISEASES 3122 \| HLA-DRA \| 1.79 \| DISEASES 3550 \| IK \| 2.512 \| DISEASES 3586 \| IL10 \| 1.834 \| DISEASES 3605 \| IL17A \| 1.756 \| DISEASES 23765 \| IL17RA \| 1.311 \| DISEASES 7850 \| IL1R2 \| 1.835 \| DISEASES 3676 \| ITGA4 \| 1.03 \| DISEASES 55683 \| KANSL3 \| 2.53 \| DISEASES 3778 \| KCNMA1 \| 3.051 \| DISEASES 79104 \| MEG8 \| 1.454 \| DISEASES 4340 \| MOG \| 1.282 \| DISEASES 5034 \| P4HB \| 1.113 \| DISEASES 63895 \| PIEZO2 \| 1.948 \| DISEASES 5464 \| PPA1 \| 2.265 \| DISEASES 10549 \| PRDX4 \| 1.958 \| DISEASES 6171 \| RPL41 \| 2.689 \| DISEASES 6295 \| SAG \| 4.992 \| DISEASES 5272 \| SERPINB9 \| 1.905 \| DISEASES 55315 \| SLC29A3 \| 2.568 \| DISEASES 9414 \| TJP2 \| 1.799 \| DISEASES 7124 \| TNF \| 3.154 \| DISEASES 7133 \| TNFRSF1B \| 2.105 \| DISEASES 7422 \| VEGFA \| 1.742 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1100
Disease	posterior uveitis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0000554 \| Uveitis \| 3 HP:0002633 \| Vasculitis \| 3 HP:0011508 \| Macular hole \| 2 HP:0100533 \| Ocular inflammation \| 2 HP:0012231 \| Exudative retinal detachment \| 2 HP:0000572 \| Visual loss \| 1 HP:0002383 \| Encephalitis \| 1 HP:0011531 \| Hyalitis \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0012121 \| Panuveitis \| 1 HP:0000518 \| Cataract \| 1 HP:0040049 \| Macular edema \| 1 HP:0000505 \| Poor vision \| 1 HP:0012122 \| Anterior uveitis \| 1 HP:0000541 \| Detached retina \| 1

Disease ID	1100
Disease	posterior uveitis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C2364133 \| infection C1963274 \| vasculitis C1282209 \| choroidal neovascular membrane C0730286 \| macular ischaemia C0456909 \| loss of vision C0456909 \| blindness C0340160 \| pulmonary hyalinizing granuloma C0235272 \| retinal damage C0040553 \| toxocariasis C0035326 \| retinal vascular occlusion
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0042384 \| vasculitis \| 3 C0035326 \| retinal vascular occlusion \| 1

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1061170	23497844	3075	CFH	umls:C0042167	BeFree	Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for posterior uveitis and panuveitis presentation.	0.000542884	2013	CFH	1	196690107	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	1100
Disease	posterior uveitis
Case	(Waiting for update.)

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