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encyclopedia of Rare Disease Annotation for Precision Medicine

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	papilledema

Disease ID	1285
Disease	papilledema
Definition	Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)
Synonym	blurring of optic disc blurring of optic disk choked disc choked discs choked disk choked disks disc inflammation optic disk choked disk, choked disks, choked edema of optic disc edema of optic disc (disorder) edema, optic disk edema, optic papilla edemas, optic disk optic disc edema optic disc edema (disorder) optic disc oedema optic disc swelling optic disc swelling (finding) optic disc swollen optic discs blurred optic disk edema optic nerve papillitis optic papilla edema optic papillitis optic papillitis (disorder) papilledema (disorder) papilledema [disease/finding] papilledema nos papilledema nos (disorder) papilledema, nos papilledema, unspecified papillitis papillitis optic papillitis, optic papillitis, optic nerve papilloedema papilloedema (disorder) papilloedema nos swollen optic disc unspecified papilledema unspecified papilledema (disorder) unspecified papilloedema
DOID	DOID:146 DOID:10175
ICD10	ICD10CM:H47.10
UMLS	C0030353
MeSH	D010211
SNOMED-CT	SNOMEDCT_US_2016_09_01:248487006;SNOMEDCT_US_2016_09_01:73221001;SNOMEDCT_US_2016_09_01:423341008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:60) C0151740 \| intracranial hypertension \| 12 C0033845 \| idiopathic intracranial hypertension \| 11 C0029124 \| optic atrophy \| 8 C0020538 \| hypertension \| 8 C0151740 \| raised intracranial pressure \| 5 C0042164 \| uveitis \| 4 C0456909 \| vision loss \| 4 C0151740 \| increased intracranial pressure \| 4 C0042165 \| anterior uveitis \| 3 C0085404 \| poems syndrome \| 3 C0035309 \| retinopathy \| 3 C0033845 \| pseudotumor cerebri \| 3 C0152132 \| hypertensive retinopathy \| 3 C0030343 \| panuveitis \| 2 C0029128 \| optic disc drusen \| 2 C0029132 \| optic neuropathy \| 2 C0547030 \| visual disturbance \| 2 C0025289 \| meningitis \| 2 C0042384 \| vasculitis \| 2 C0029134 \| optic neuritis \| 2 C0010278 \| craniosynostosis \| 2 C0004943 \| behcet disease \| 2 C0271051 \| macular oedema \| 1 C0010346 \| crohn's disease \| 1 C0028841 \| ocular hypotony \| 1 C0001815 \| idiopathic myelofibrosis \| 1 C0022354 \| obstructive jaundice \| 1 C0027813 \| neuritis \| 1 C0040128 \| thyroid diseases \| 1 C0271051 \| macular edema \| 1 C0022116 \| ischemia \| 1 C0152026 \| retinal vasculitis \| 1 C0042790 \| visual disorder \| 1 C0281658 \| intraocular lymphoma \| 1 C0040561 \| ocular toxoplasmosis \| 1 C0442874 \| neuropathy \| 1 C0029089 \| ophthalmoplegia \| 1 C0035334 \| retinitis pigmentosa \| 1 C0024299 \| lymphoma \| 1 C0004134 \| ataxia \| 1 C0012236 \| 22q11.2 deletion syndrome \| 1 C0730306 \| ocular lymphoma \| 1 C0002871 \| anemia \| 1 C0040128 \| thyroid disease \| 1 C0042164 \| intraocular inflammation \| 1 C0011847 \| diabetes \| 1 C0271355 \| lateral rectus palsy \| 1 C0030353 \| papilledema \| 1 C0036454 \| visual field loss \| 1 C0018378 \| guillain-barre syndrome \| 1 C0035305 \| retinal detachment \| 1 C0151740 \| elevated intracranial pressure \| 1 C0004943 \| behcet's disease \| 1 C0085113 \| neurofibromatosis \| 1 C0008311 \| cholangitis \| 1 C0020255 \| hydrocephalus \| 1 C0035333 \| retinitis \| 1 C0431399 \| joubert syndrome \| 1 C0024440 \| cystoid macular oedema \| 1 C0037198 \| sinus thrombosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:48) 103 \| ADAR \| 1.675 \| DISEASES 2334 \| AFF2 \| 1.727 \| DISEASES 283 \| ANG \| 2.046 \| DISEASES 959 \| CD40LG \| 2.534 \| DISEASES 959 \| CD40LG \| 2.065 \| DISEASES 974 \| CD79B \| 1.569 \| DISEASES 1325 \| CORT \| 1.566 \| DISEASES 9244 \| CRLF1 \| 2.656 \| DISEASES 51428 \| DDX41 \| 2.074 \| DISEASES 2189 \| FANCG \| 1.534 \| DISEASES 2263 \| FGFR2 \| 1.637 \| DISEASES 2316 \| FLNA \| 1.796 \| DISEASES 29933 \| GPR132 \| 1.731 \| DISEASES 3052 \| HCCS \| 1.84 \| DISEASES 3055 \| HCK \| 1.29 \| DISEASES 3119 \| HLA-DQB1 \| 1.85 \| DISEASES 3240 \| HP \| 1.337 \| DISEASES 3486 \| IGFBP3 \| 1.251 \| DISEASES 100423062 \| IGLL5 \| 1.911 \| DISEASES 3550 \| IK \| 2.874 \| DISEASES 3778 \| KCNMA1 \| 1.387 \| DISEASES 374654 \| KIF7 \| 2.714 \| DISEASES 51520 \| LARS \| 1.179 \| DISEASES 9361 \| LONP1 \| 2.16 \| DISEASES 4155 \| MBP \| 1.018 \| DISEASES 8972 \| MGAM \| 1.048 \| DISEASES 4524 \| MTHFR \| 2.225 \| DISEASES 4763 \| NF1 \| 1.053 \| DISEASES 114548 \| NLRP3 \| 3.047 \| DISEASES 2516 \| NR5A1 \| 2.3 \| DISEASES 27445 \| PCLO \| 3.588 \| DISEASES 5133 \| PDCD1 \| 1.755 \| DISEASES 5251 \| PHEX \| 1.712 \| DISEASES 84106 \| PRAM1 \| 1.67 \| DISEASES 5549 \| PRELP \| 2.685 \| DISEASES 5562 \| PRKAA1 \| 2.446 \| DISEASES 374308 \| PTCHD3 \| 2.037 \| DISEASES 5730 \| PTGDS \| 1.723 \| DISEASES 6295 \| SAG \| 1.941 \| DISEASES 462 \| SERPINC1 \| 1.387 \| DISEASES 6559 \| SLC12A3 \| 2.205 \| DISEASES 3177 \| SLC29A2 \| 2.266 \| DISEASES 9301 \| SNORD27 \| 3.82 \| DISEASES 342898 \| SYCN \| 3.699 \| DISEASES 6905 \| TBCE \| 2.081 \| DISEASES 706 \| TSPO \| 1.983 \| DISEASES 8266 \| UBL4A \| 2.464 \| DISEASES 7422 \| VEGFA \| 2.456 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1285
Disease	papilledema
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:61) HP:0002516 \| Intracranial pressure elevation \| 19 HP:0000572 \| Visual loss \| 11 HP:0000822 \| Hypertension \| 10 HP:0000648 \| Optic-nerve degeneration \| 9 HP:0000554 \| Uveitis \| 5 HP:0002315 \| Headaches \| 4 HP:0012122 \| Anterior uveitis \| 4 HP:0000573 \| Retinal hemorrhage \| 4 HP:0001363 \| Early fusion of cranial sutures \| 3 HP:0001259 \| Coma \| 3 HP:0001287 \| Meningitis \| 3 HP:0001138 \| Damaged optic nerve \| 3 HP:0000488 \| Noninflammatory retina disease \| 3 HP:0001095 \| Hypertensive retinopathy \| 3 HP:0100533 \| Ocular inflammation \| 2 HP:0012426 \| Optic disc drusen \| 2 HP:0000529 \| Slowly progressive visual loss \| 2 HP:0007663 \| Central visual loss \| 2 HP:0000622 \| Blurred vision \| 2 HP:0011510 \| Drusen \| 2 HP:0000969 \| Dropsy \| 2 HP:0100653 \| Optic neuritis \| 2 HP:0200057 \| relative afferent pupil defect \| 2 HP:0007099 \| Arnold Chiari type I malformation \| 2 HP:0012121 \| Panuveitis \| 2 HP:0002633 \| Vasculitis \| 2 HP:0011531 \| Hyalitis \| 2 HP:0100280 \| Morbus Crohn \| 1 HP:0001085 \| Papilledema \| 1 HP:0012841 \| Retinal vascular tortuosity \| 1 HP:0002013 \| Emesis \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0011499 \| Mydriasis \| 1 HP:0030799 \| Scaphocephaly \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0030151 \| Cholangitis \| 1 HP:0001147 \| Retinal exudate \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0000541 \| Detached retina \| 1 HP:0001146 \| Retinal pigmentary degeneration \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0001903 \| Anemia \| 1 HP:0001251 \| Ataxia \| 1 HP:0001065 \| Purplish striae \| 1 HP:0012123 \| Posterior uveitis \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0100774 \| Hyperostosis \| 1 HP:0001105 \| Retinal atrophy \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0004948 \| Twisted blood vessels \| 1 HP:0007813 \| Nongranulomatous uveitis \| 1 HP:0011505 \| Cystoid macular edema \| 1 HP:0200056 \| Macular scar \| 1 HP:0000952 \| Yellow skin \| 1 HP:0001289 \| Confusion \| 1 HP:0012531 \| Pain \| 1 HP:0040049 \| Macular edema \| 1 HP:0001548 \| Overgrowth \| 1

Disease ID	1285
Disease	papilledema
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C2364324 \| increased intracranial pressure C1740816 \| thoracic disc herniation C1282043 \| peripapillary choroidal neovascular membrane C0547030 \| visual disturbance C0344232 \| blurred vision C0271195 \| absolute scotoma C0238432 \| ependymoma of the spinal cord C0037930 \| spinal tumor C0037930 \| spinal cord tumors C0037930 \| spinal cord tumor C0036454 \| visual field defects C0027809 \| schwannoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0151740 \| increased intracranial pressure \| 4

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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	1285
Disease	papilledema
Case	(Waiting for update.)

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