{"Name":"Anal fistula","DiseaseID__c":"GARD:0020568","id":20568,"encodedName":"anal-fistula","IsDeleted":false,"Disease_Name_Full__c":"Anal fistula","Xref_IDs__c":"72779005; 786878009; C0205929; C60785; D012003; DOID:0060328; HP:0010447; K60.3; MEDGEN:61482; MONDO:0000754; ORPHA:228113","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0000754","Disease_Description__c":"An intestinal disorder characterized by an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.","GARD_Name__c":"Anal fistula","GARD_Synonym__c":"anal fistula (disease); anorectal fistula; fistula in ano; fistula of anus; fistula-in-ano","Curated_Disease_Description_Source__c":"MONDO:0000754","Curated_Disease_Description__c":"A fistula is an abnormal passageway, or tunnel, in the body. An internal fistula is an abnormal tunnel between two internal organs. An external fistula is an abnormal tunnel between an internal organ and the outside of the body.\r\n\r\nA colonic fistula is an abnormal tunnel from the colon to the surface of the skin or to an internal organ, such as the bladder, small intestine, or vagina.\r\n\r\nAn anorectal fistula is an abnormal tunnel from the anus or rectum to the surface of the skin around the anus. Women may have rectovaginal fistulas, which are anorectal fistulas between the anus or rectum and the vagina.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:228113","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0000754","ORPHANET_ID__c":"ORPHA:228113","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fístula anal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fístula anal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","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":"A fistula is an abnormal passageway, or tunnel, in the body. An internal fistula is an abnormal tunnel between two internal organs. An external fistula is an abnormal tunnel between an internal organ and the outside of the body.\r\n\r\nA colonic fistula is an abnormal tunnel from the colon to the surface of the skin or to an internal organ, such as the bladder, small intestine, or vagina.\r\n\r\nAn anorectal fistula is an abnormal tunnel from the anus or rectum to the surface of the skin around the anus. Women may have rectovaginal fistulas, which are anorectal fistulas between the anus or rectum and the vagina.","Curated_Disease_Description_Source__c":"MONDO:0000754","GARD_Synonym__c":"anal fistula (disease); anorectal fistula; fistula in ano; fistula of anus; fistula-in-ano","Name":"Anal fistula","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:228113"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=72779005","Source__c":"MONDO:0000754","Xref__c":"72779005"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/K60.3","Source__c":"MONDO:0000754","Xref__c":"K60.3"},{"URL__c":"https://www.orpha.net/en/disease/detail/228113","Source__c":"C0205929; MONDO:0000754; ORPHA:228113","Xref__c":"ORPHA:228113"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=61482","Source__c":"C0205929","Xref__c":"MEDGEN:61482"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012003","Source__c":"MONDO:0000754","Xref__c":"D012003"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C60785","Source__c":"MONDO:0000754","Xref__c":"C60785"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0205929","Source__c":"C0205929","Xref__c":"C0205929"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060328","Source__c":"MONDO:0000754","Xref__c":"DOID:0060328"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000754","Source__c":"GARD:0020568","Xref__c":"MONDO:0000754"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=786878009","Source__c":"C0205929","Xref__c":"786878009"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010447","Source__c":"C0205929","Xref__c":"HP:0010447"},{"URL__c":"https://www.niddk.nih.gov/health-information/digestive-diseases/anatomic-problems-lower-gi-tract/colonic-anorectal-fistulas"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:228113","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228113","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005218","HPO_Name__c":"Anoperineal fistula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228113","HPO_Frequency__c":"Frequent (30-79%)","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:228113","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A sudden sensation of feeling cold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025143","HPO_Synonym__c":"Chills","HPO_Name__c":"Chills","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228113","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in and around the anus or rectum (perianal region).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500005","HPO_Synonym__c":"Anal pain; Anorectal pain; Proctalgia; Rectal pain","HPO_Name__c":"Anal pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228113","HPO_Frequency__c":"Uncommon (<1-4%)","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:228113","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"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology","Pediatrics"]},"synonyms":["anal fistula (disease)"," anorectal fistula"," fistula in ano"," fistula of anus"," fistula-in-ano"]}