{"Name":"Onchocerciasis","DiseaseID__c":"GARD:0007252","id":7252,"encodedName":"onchocerciasis","IsDeleted":false,"Disease_Name_Full__c":"Onchocerciasis","Xref_IDs__c":"38539003; B73; C0029001; C34861; D009855; DOID:11678; MEDGEN:14477; MONDO:0017137; ORPHA:2737","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017137","Disease_Description__c":"A form of filariasis, caused by the parasitic worm <i> Onchocerca volvulus</i>, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.","GARD_Name__c":"Onchocerciasis","GARD_Synonym__c":"infection by onchocerca volvulus; infection caused by onchocerca volvulus; onchocerca volvulus infection; onchocercosis; river blindness; robles' disease; volvulosis","Curated_Disease_Description_Source__c":"GARD:0007252","Curated_Disease_Description__c":"Onchocerciasis is a rare tropical parasitic disease transmitted by a black fly. Infection by the parasite can cause eye and skin problems. In humans, the parasitic worms live under the skin (subcutaneous nodules) and produce larvae (microfilariae). The larvae are found throughout the body, but especially in the skin and eyes. Repeated bites by infected flies increase the number of adult worms and larvae. Chronic skin Onchocerciasis (onchodermatitis) causes itching, a rash with small pimples (papular rash), scarring, and thickened, leathery skin (lichenification). Other symptoms may develop over time and might include saggy skin (such as ''hanging groin''), patchy areas of much lighter colored skin (leopard skin), ichthyosis-like lesions (''lizard skin''), darkening of the skin, and very severe itching. The eye infection is known as river blindness because the blackfly carrying the parasite lives near fast-flowing waters. Symptoms of an eye infection may include itchy eyes, red eyes, and sensitivity to light (photophobia). In some cases, the larvae may infect the optic nerve. As the common name suggests, infection of the eye by Onchocerciasis can lead to vision loss and eventually blindness. The disease is caused by the parasitic worm Onchocerca volvulus and is transmitted by the bite of an infected black fly. About 90% of the cases occur in Africa.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2737","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017137","ORPHANET_ID__c":"ORPHA:2737","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Oncocercosis","Spanish_Description_Source__c":"ORPHA:2737","Spanish_Description__c":"Es una forma de filariasis causada por el gusano parásito <i>Onchocerca volvulus</i>, transmitido por la mosca negra. La infección puede ser asintomática o manifestarse como enfermedad ocular (ceguera de los ríos) con picazón en los ojos, eritema, fotofobia, oncodermatitis o dermatosis causada por onchocerca (clasificada en papular aguda, papular crónica, liquenizada, atrófica y despigmentada) y oncocercomas (sobre protuberancias óseas). Otras manifestaciones clínicas que pueden estar asociadas a linfoadenopatía, son las lesiones de tipo ictiósico (\"piel de lagarto\", ''lizard skin'') y linfoadenopatía inguinal (''hanging groin'').","Spanish_Disease_Name__c":"oncocercosis","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68416","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Onchocerciasis is a rare tropical parasitic disease transmitted by a black fly. Infection by the parasite can cause eye and skin problems. In humans, the parasitic worms live under the skin (subcutaneous nodules) and produce larvae (microfilariae). The larvae are found throughout the body, but especially in the skin and eyes. Repeated bites by infected flies increase the number of adult worms and larvae. Chronic skin Onchocerciasis (onchodermatitis) causes itching, a rash with small pimples (papular rash), scarring, and thickened, leathery skin (lichenification). Other symptoms may develop over time and might include saggy skin (such as ''hanging groin''), patchy areas of much lighter colored skin (leopard skin), ichthyosis-like lesions (''lizard skin''), darkening of the skin, and very severe itching. The eye infection is known as river blindness because the blackfly carrying the parasite lives near fast-flowing waters. Symptoms of an eye infection may include itchy eyes, red eyes, and sensitivity to light (photophobia). In some cases, the larvae may infect the optic nerve. As the common name suggests, infection of the eye by Onchocerciasis can lead to vision loss and eventually blindness. The disease is caused by the parasitic worm Onchocerca volvulus and is transmitted by the bite of an infected black fly. About 90% of the cases occur in Africa.","Curated_Disease_Description_Source__c":"GARD:0007252","GARD_Synonym__c":"infection by onchocerca volvulus; infection caused by onchocerca volvulus; onchocerca volvulus infection; onchocercosis; river blindness; robles' disease; volvulosis","Name":"Onchocerciasis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Onchocerciasis Elimination Program for the Americas","Website__c":"https://www.cartercenter.org/health/river_blindness/oepa.html"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Rare Parasitic Disease","Tag_Category__c":"Cause","curated_tag_name":"Parasitic Infectious Diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2737"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0029001","Source__c":"C0029001","Xref__c":"C0029001"},{"URL__c":"https://www.orpha.net/en/disease/detail/2737","Source__c":"C0029001; MONDO:0017137; ORPHA:2737","Xref__c":"ORPHA:2737"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34861","Source__c":"C0029001; MONDO:0017137","Xref__c":"C34861"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=14477","Source__c":"C0029001","Xref__c":"MEDGEN:14477"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=38539003","Source__c":"C0029001; MONDO:0017137","Xref__c":"38539003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009855","Source__c":"C0029001; MONDO:0017137","Xref__c":"D009855"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11678","Source__c":"MONDO:0017137","Xref__c":"DOID:11678"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/B73","Source__c":"MONDO:0017137","Xref__c":"B73"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017137","Source__c":"GARD:0007252","Xref__c":"MONDO:0017137"}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"],"Cause":["Rare Parasitic Disease"]},"synonyms":["infection by onchocerca volvulus"," infection caused by onchocerca volvulus"," onchocerca volvulus infection"," onchocercosis"," river blindness"," robles' disease"," volvulosis"],"spanishId":13575,"spanishName":"oncocercosis"}