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encyclopedia of Rare Disease Annotation for Precision Medicine

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	onchocerciasis

Disease ID	962
Disease	onchocerciasis
Definition	Infection with nematodes of the genus ONCHOCERCA. Characteristics include the presence of firm subcutaneous nodules filled with adult worms, PRURITUS, and ocular lesions.
Synonym	infection by onchocerca volvulus infection by onchocerca volvulus (disorder) infection caused by onchocerca volvulus infection caused by onchocerca volvulus (disorder) onchocerca volvulus infection onchocerciases onchocerciasis [disease/finding] onchocercosis river blindness volvulosis
Orphanet	ORPHANET:2737
DOID	DOID:11678 DOID:11680
UMLS	C0029001
MeSH	D009855
SNOMED-CT	SNOMEDCT_US_2016_09_01:38539003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0456909 \| blindness \| 5 C0042961 \| volvulus \| 5 C0023968 \| loiasis \| 2 C0014544 \| epilepsy \| 2 C0013884 \| lymphatic filariasis \| 1 C0010034 \| corneal diseases \| 1 C0036323 \| schistosomiasis \| 1 C0016085 \| filariasis \| 1 C0040592 \| trachoma \| 1 C0010034 \| corneal disease \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2212 \| FCGR2A \| CIPHER 3596 \| IL13 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:59) 210 \| ALAD \| 2.268 \| DISEASES 287 \| ANK2 \| 1.743 \| DISEASES 347 \| APOD \| 3.188 \| DISEASES 340075 \| ARSI \| 2.422 \| DISEASES 811 \| CALR \| 3.201 \| DISEASES 9560 \| CCL4L2 \| 1.255 \| DISEASES 6354 \| CCL7 \| 1.717 \| DISEASES 959 \| CD40LG \| 2.779 \| DISEASES 962 \| CD48 \| 1.404 \| DISEASES 55636 \| CHD7 \| 1.871 \| DISEASES 1946 \| EFNA5 \| 1.603 \| DISEASES 255324 \| EPGN \| 1.295 \| DISEASES 10516 \| FBLN5 \| 1.36 \| DISEASES 81545 \| FBXO38 \| 3.335 \| DISEASES 2235 \| FECH \| 1.01 \| DISEASES 2805 \| GOT1 \| 1.923 \| DISEASES 2821 \| GPI \| 1.691 \| DISEASES 2875 \| GPT \| 2.524 \| DISEASES 84706 \| GPT2 \| 2.795 \| DISEASES 3118 \| HLA-DQA2 \| 1.151 \| DISEASES 3141 \| HLCS \| 1.79 \| DISEASES 3329 \| HSPD1 \| 1.453 \| DISEASES 3459 \| IFNGR1 \| 1.415 \| DISEASES 3586 \| IL10 \| 2.538 \| DISEASES 3778 \| KCNMA1 \| 3.083 \| DISEASES 25802 \| LMOD1 \| 1.886 \| DISEASES 116511 \| MAS1L \| 2.646 \| DISEASES 83876 \| MRO \| 2.213 \| DISEASES 4512 \| MT-CO1 \| 3.291 \| DISEASES 4540 \| MT-ND5 \| 2.225 \| DISEASES 23218 \| NBEAL2 \| 1.41 \| DISEASES 58484 \| NLRC4 \| 1.163 \| DISEASES 390874 \| ONECUT3 \| 4.982 \| DISEASES 11331 \| PHB2 \| 1.484 \| DISEASES 9033 \| PKD2L1 \| 2.049 \| DISEASES 9374 \| PPT2 \| 1.799 \| DISEASES 5542 \| PRB1 \| 2.153 \| DISEASES 8073 \| PTP4A2 \| 2.805 \| DISEASES 5900 \| RALGDS \| 1.267 \| DISEASES 440163 \| RNASE13 \| 4.626 \| DISEASES 84816 \| RTN4IP1 \| 1.199 \| DISEASES 6280 \| S100A9 \| 2.189 \| DISEASES 6295 \| SAG \| 1.581 \| DISEASES 404552 \| SCGB1D4 \| 3.205 \| DISEASES 51150 \| SDF4 \| 1.053 \| DISEASES 5265 \| SERPINA1 \| 1.014 \| DISEASES 12 \| SERPINA3 \| 1.788 \| DISEASES 5269 \| SERPINB6 \| 1.412 \| DISEASES 23408 \| SIRT5 \| 1.094 \| DISEASES 6503 \| SLA \| 2.768 \| DISEASES 6541 \| SLC7A1 \| 1.287 \| DISEASES 246744 \| STH \| 1.974 \| DISEASES 26136 \| TES \| 1.087 \| DISEASES 114609 \| TIRAP \| 1.698 \| DISEASES 7099 \| TLR4 \| 1.098 \| DISEASES 10333 \| TLR6 \| 2.713 \| DISEASES 7124 \| TNF \| 1.383 \| DISEASES 8784 \| TNFRSF18 \| 1.042 \| DISEASES 8995 \| TNFSF18 \| 1.938 \| DISEASES
Locus	(Waiting for update.)

Disease ID	962
Disease	onchocerciasis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000618 \| Blindness \| 5 HP:0002580 \| Volvulus \| 5 HP:0009903 \| Conjunctival nodule \| 1 HP:0001482 \| Subcutaneous nodule \| 1

Disease ID	962
Disease	onchocerciasis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:27) C2707258 \| infections C2364133 \| infection C2240374 \| eosinophilia C1689996 \| eosinopenia C1096087 \| mazzotti reaction C0456909 \| blindness C0339383 \| chorioretinopathy C0235272 \| retinal damage C0042961 \| volvulus C0037285 \| skin manifestations C0037284 \| skin lesions C0037274 \| skin disease C0036454 \| visual field defects C0035309 \| retinal disease C0033774 \| pruritus C0033774 \| itching C0029132 \| optic neuropathy C0029132 \| optic nerve disease C0023348 \| lepromatous leprosy C0018418 \| gynaecomastia C0015411 \| eye manifestations C0015397 \| ocular disease C0015397 \| eye disease C0014544 \| epilepsy C0013884 \| lymphatic filariasis C0013882 \| elephantiasis C0008513 \| chorioretinitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0456909 \| blindness \| 5 C0014544 \| epilepsy \| 2 C0021311 \| infections \| 2 C0042961 \| volvulus \| 1 C0009450 \| infection \| 1 C0013884 \| lymphatic filariasis \| 1 C0033774 \| itching \| 1

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	962
Disease	onchocerciasis
Case	(Waiting for update.)

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