{"orpha":158769,"name":"Plaque-form urticaria pigmentosa","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Maculopapular cutaneous mastocytosis","url":"https://raremap.alftech.space/d/ORPHA-158769/","orphanet_url":"https://www.orpha.net/en/disease/detail/158769","names":{"fr":{"name":"Urticaire pigmentaire en plaques"},"de":{"name":"Urtikaria pigmentosa, plaqueförmige"},"es":{"name":"Urticaria pigmentosa en placas"},"it":{"name":"Orticaria pigmentosa a placche"},"nl":{"name":"Urticaria pigmentosa met plaquevorming","synonyms":["Netelroos pigmentosa met plaquevorming"]},"pt":{"name":"Urticária pigmentosa em forma de placa"},"pl":{"name":"Pokrzywka barwnikowa postać tarczkowa"},"cs":{"name":"Plakovitá urticaria pigmentosa"},"uk":{"name":"Бляшкова пігментна кропивянка"},"zh":{"name":"斑块型色素性荨麻疹"},"tr":{"name":"Plak şeklindeki ürtiker pigmentosa"}},"xrefs":[{"source":"ICD-10","code":"Q82.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015555","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680682","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79457,"name":"Maculopapular cutaneous mastocytosis","classifications":[187,194,202]}],"children":[],"genes":[{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11505412[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":[],"prevalence":[],"phenotypes":null}