{"orpha":556,"name":"Malakoplakia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-556/","orphanet_url":"https://www.orpha.net/en/disease/detail/556","names":{"fr":{"name":"Malakoplakie","definition":"La malakoplakie est une maladie inflammatoire granulomateuse multisystémique chronique, caractérisée par la présence de plaques molles uniques ou multiples pouvant toucher différents organes."},"de":{"name":"Malakoplasie","definition":"Die Malakoplakie ist eine chronisch-entzündliche granulomatöse Multisystem-Erkrankung und gekennzeichnet durch einzelne oder multiple weiche Plaques auf verschiedenen Organen des Körpers."},"es":{"name":"Malacoplaquia","definition":"La malacoplasia es una enfermedad inflamatoria granulomatosa multisistémica crónica caracterizada por la presencia de una o múltiples placas blandas en varios órganos del cuerpo."},"it":{"name":"Malacoplachia","definition":"La malacoplachia è una malattia infiammatoria granulomatosa multisistemica caratterizzata dalla presenza di placche molli singole o multiple in vari organi."},"nl":{"name":"Malakoplakie","definition":"Malakoplakie is een chronische multisystemische granulomateuze inflammatoire aandoening, gekenmerkt door de aanwezigheid van een of meerdere zachte plaques op verschillende organen van het lichaam."},"pt":{"name":"Malacoplaquia"},"pl":{"name":"Malakoplakia"},"cs":{"name":"Malakoplakie"},"uk":{"name":"Малакоплакія","definition":"Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body."},"zh":{"name":"软斑病"},"tr":{"name":"Malakoplaki"}},"xrefs":[{"source":"ICD-10","code":"N28.8","qualifier":"ND","icd_relation":"index","validated":true},{"source":"ICD-10","code":"N32.8","qualifier":"ND","icd_relation":"index","validated":true},{"source":"ICD-10","code":"N36.8","qualifier":"ND","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EL3Y","qualifier":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"782619380"},{"source":"ICD-11","code":"GC01.Y","qualifier":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"1860083585"},{"source":"ICD-11","code":"GC0Y","qualifier":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"17375990"},{"source":"MONDO","code":"0018913","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008287","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024525","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6960","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100577","label":"Urinary bladder inflammation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000019","label":"Urinary hesitancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002729","label":"Follicular hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100273","label":"Neoplasm of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100796","label":"Orchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100787","label":"Prostate neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}