{"Name":"Filarial elephantiasis","DiseaseID__c":"GARD:0003321","id":3321,"encodedName":"filarial-elephantiasis","IsDeleted":false,"Disease_Name_Full__c":"Filarial elephantiasis","Xref_IDs__c":"14100003; 240820001; C0013884; C128360; D004605; DOID:12211; MEDGEN:8583; MONDO:0005761; ORPHA:2035","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005761","Disease_Description__c":"Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.","GARD_Name__c":"Filarial elephantiasis","GARD_Synonym__c":"bancroftian elephantiasis; bancroftian filarial chyluria; bancroftian filariasis; elephantiasis of eyelid; eyelid elephantiasis; lymphatic filariasis; malayi tropical eosinphilia; wuchereria bancrofti infection; wuchereriasis","Curated_Disease_Description_Source__c":"GARD:0003321","Curated_Disease_Description__c":"Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms.","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:2035","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0005761","ORPHANET_ID__c":"ORPHA:2035","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Filariasis linfática","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"filariasis linfática","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":"Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms.","Curated_Disease_Description_Source__c":"GARD:0003321","GARD_Synonym__c":"bancroftian elephantiasis; bancroftian filarial chyluria; bancroftian filariasis; elephantiasis of eyelid; eyelid elephantiasis; lymphatic filariasis; malayi tropical eosinphilia; wuchereria bancrofti infection; wuchereriasis","Name":"Filarial elephantiasis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Carter Center","Website__c":"https://www.cartercenter.org/health/lf/index.html"}],"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:2035"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2035","Source__c":"C0013884; MONDO:0005761; ORPHA:2035","Xref__c":"ORPHA:2035"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12211","Source__c":"MONDO:0005761","Xref__c":"DOID:12211"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C128360","Source__c":"C0013884; MONDO:0005761","Xref__c":"C128360"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004605","Source__c":"C0013884; MONDO:0005761","Xref__c":"D004605"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0013884","Source__c":"C0013884","Xref__c":"C0013884"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8583","Source__c":"C0013884","Xref__c":"MEDGEN:8583"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=240820001","Source__c":"C0013884; MONDO:0005761","Xref__c":"240820001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=14100003","Source__c":"MONDO:0005761","Xref__c":"14100003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005761","Source__c":"GARD:0003321","Xref__c":"MONDO:0005761"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005086","HPO_Name__c":"Knee osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032260","HPO_Name__c":"Opportunistic bacterial infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistence of immune complexes in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012224","HPO_Name__c":"Circulating immune complexes","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100763","HPO_Name__c":"Abnormality of the lymphatic system","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000100","HPO_Synonym__c":"Nephrosis","HPO_Name__c":"Nephrotic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031690","HPO_Name__c":"Opportunistic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testicular inflammation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100796","HPO_Synonym__c":"Inflammation of testicles","HPO_Name__c":"Orchitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000045","HPO_Synonym__c":"Abnormality of the scrotum","HPO_Name__c":"Abnormal scrotum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100673","HPO_Name__c":"Vaginal hydrocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003550","HPO_Name__c":"Predominantly lower limb lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032061","HPO_Synonym__c":"Hypereosinophilia","HPO_Name__c":"Severely increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002840","HPO_Synonym__c":"Inflammation of the lymph nodes","HPO_Name__c":"Lymphadenitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002088","HPO_Synonym__c":"Abnormality of lung structure; Abnormality of the lungs; Abnormally shaped lung; Unusual lung shape","HPO_Name__c":"Abnormal lung morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031842","HPO_Synonym__c":"Lymphangiectasia","HPO_Name__c":"Lymphangiectasis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Lack of intentional participation in interactions with another person.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008763","HPO_Synonym__c":"No social interaction","HPO_Name__c":"No social interaction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001785","HPO_Synonym__c":"Ankle swelling","HPO_Name__c":"Ankle swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the epididymis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000031","HPO_Name__c":"Epididymitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2035","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Obstruction of the flow of urine through the urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000796","HPO_Name__c":"Urethral obstruction","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Pediatrics"],"Cause":["Rare Parasitic Disease"]},"synonyms":["bancroftian elephantiasis"," bancroftian filarial chyluria"," bancroftian filariasis"," elephantiasis of eyelid"," eyelid elephantiasis"," lymphatic filariasis"," malayi tropical eosinphilia"," wuchereria bancrofti infection"," wuchereriasis"]}