{"Name":"Infection by Dracunculus medinensis","DiseaseID__c":"GARD:0006286","id":6286,"encodedName":"infection-by-dracunculus-medinensis","IsDeleted":false,"Disease_Name_Full__c":"Infection by Dracunculus medinensis","Xref_IDs__c":"396334002; B72; C0013100; C84677; D004320; DOID:14418; MEDGEN:41653; MONDO:0016472; ORPHA:231","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016472","Disease_Description__c":"Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the <i>Dracunculus medinensis</i> parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (<i>Cyclops spp.</i>, microcrustacea also called water fleas).","GARD_Name__c":"Infection by Dracunculus medinensis","GARD_Synonym__c":"dracontiasis; dracontiasis - guinea-worm; dracunculiasis; dracunculosis; dracunculus medinensis caused disease or disorder; dracunculus medinensis disease or disorder; dracunculus medinensis infectious disease; guinea worm disease; guinea-worm infection; infection caused by dracunculus medinensis; medina worm disease; medinensis","Curated_Disease_Description_Source__c":"MONDO:0016472","Curated_Disease_Description__c":"Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).","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:231","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016472","ORPHANET_ID__c":"ORPHA:231","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dracunculiasis","Spanish_Description_Source__c":"ORPHA:231","Spanish_Description__c":"La dracunculiasis (enfermedad del gusano de Guinea) es una enfermedad tropical desatendida (ETD) caracterizada por lesiones cutáneas dolorosas con sensación de ardor de las que emerge el parásito <i>Dracunculus medinensis</i>, aproximadamente un año después de la infección, como resultado de la ingestión de agua no apta para el consumo que contiene copépodos (<i>Cyclops spp.</i>, microcrustáceos también llamados pulgas de agua) infectados con el parásito.","Spanish_Disease_Name__c":"dracunculiasis","Spanish_GARD_Synonym__c":"dracunculosis; enfermedad de la lombriz de guinea; enfermedad de la lombriz de medina; medinensis","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":"Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).","Curated_Disease_Description_Source__c":"MONDO:0016472","GARD_Synonym__c":"dracontiasis; dracontiasis - guinea-worm; dracunculiasis; dracunculosis; dracunculus medinensis caused disease or disorder; dracunculus medinensis disease or disorder; dracunculus medinensis infectious disease; guinea worm disease; guinea-worm infection; infection caused by dracunculus medinensis; medina worm disease; medinensis","Name":"Infection by Dracunculus medinensis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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:231"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004320","Source__c":"C0013100; MONDO:0016472","Xref__c":"D004320"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=41653","Source__c":"C0013100","Xref__c":"MEDGEN:41653"},{"URL__c":"https://www.orpha.net/en/disease/detail/231","Source__c":"C0013100; MONDO:0016472; ORPHA:231","Xref__c":"ORPHA:231"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=396334002","Source__c":"C0013100; MONDO:0016472","Xref__c":"396334002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14418","Source__c":"MONDO:0016472","Xref__c":"DOID:14418"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84677","Source__c":"C0013100; MONDO:0016472","Xref__c":"C84677"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/B72","Source__c":"MONDO:0016472","Xref__c":"B72"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0013100","Source__c":"C0013100","Xref__c":"C0013100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016472","Source__c":"GARD:0006286","Xref__c":"MONDO:0016472"},{"URL__c":"https://www.cdc.gov/guinea-worm/about/"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100326","HPO_Name__c":"Immunologic hypersensitivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild fever that does not exceed 38.5 degrees centigrade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011134","HPO_Synonym__c":"Low-grade fever; Mild fever","HPO_Name__c":"Low-grade fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100838","HPO_Name__c":"Recurrent cutaneous abscess formation","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100758","HPO_Synonym__c":"Death of body tissue due to lack of blood flow or infection","HPO_Name__c":"Gangrene","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Pediatrics"],"Cause":["Rare Parasitic Disease"]},"synonyms":["dracontiasis"," dracontiasis - guinea-worm"," dracunculiasis"," dracunculosis"," dracunculus medinensis caused disease or disorder"," dracunculus medinensis disease or disorder"," dracunculus medinensis infectious disease"," guinea worm disease"," guinea-worm infection"," infection caused by dracunculus medinensis"," medina worm disease"," medinensis"]}