{"orpha":548,"name":"Leprosy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A chronic infectious disease affecting primarily the skin and peripheral nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-548/","orphanet_url":"https://www.orpha.net/en/disease/detail/548","names":{"fr":{"name":"Lèpre","definition":"La lèpre est une maladie infectieuse chronique affectant la peau et le système nerveux périphérique."},"de":{"name":"Lepra","definition":"Die Lepra ist eine chron. Infektionskrankheit primär der Haut und des peripheren Nervensystems."},"es":{"name":"Lepra","definition":"Es una enfermedad infecciosa crónica que afecta principalmente a la piel y al sistema nervioso periférico."},"it":{"name":"Lebbra","definition":"La lebbra è una malattia infettiva cronica per lo più della cute e del SNP."},"nl":{"name":"Lepra","definition":"Een chronische infectieziekte die voornamelijk huid en perifeer zenuwstelsel aantast."},"pt":{"name":"Lepra","definition":"A lepra é uma doença infecciosa crónica que afeta principalmente a pele e o sistema nervoso periférico."},"pl":{"name":"Trąd"},"cs":{"name":"Lepra"},"uk":{"name":"Проказа","definition":"A chronic infectious disease affecting primarily the skin and peripheral nervous system."},"zh":{"name":"麻风"},"tr":{"name":"Cüzzam (Lepra)"}},"xrefs":[{"source":"OMIM","code":"246300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607572","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609888","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610988","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613223","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613407","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"A30.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A30.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A30.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A30.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A30.4","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A30.5","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A30.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"A30.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"1B20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"149072669"},{"source":"ICD-11","code":"1B20.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1800264981"},{"source":"ICD-11","code":"1B20.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1123804548"},{"source":"ICD-11","code":"1B20.2","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1295356165"},{"source":"ICD-11","code":"1B20.3","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1324017222"},{"source":"MONDO","code":"0005124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023343","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6886","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10024229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":206613,"name":"Infectious disease with peripheral neuropathy","classifications":[181]},{"orpha":163582,"name":"Rare bacterial infectious disease","classifications":[203]},{"orpha":399824,"name":"Rare disorder with obstructive azoospermia","classifications":[201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-03","source":"25432808[PMID]_28763601[PMID]","terms":[{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006121","label":"Acral ulceration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003489","label":"Acute episodes of neuropathic symptoms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034102","label":"Anti-sphingolipid antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010835","label":"Dissociated sensory loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012645","label":"Enlarged peripheral nerve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012181","label":"Entrapment neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020073","label":"Hypopigmented macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011821","label":"Abnormality of facial skeleton","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010827","label":"Abnormality of the seventh cranial nerve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002087","label":"Abnormality of the upper respiratory tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007460","label":"Autoamputation of digits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012155","label":"Decreased corneal sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011334","label":"Facial shape deformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030003","label":"Paralytic lagophthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001026","label":"Penetrating foot ulcers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030351","label":"Urticarial plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012500","label":"Verrucous papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001101","label":"Iritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032404","label":"Testicular mass","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Very rare (<4-1%)","criteria":null}]}}