{"orpha":90389,"name":"Telangiectasia macularis eruptiva perstans","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-90389/","orphanet_url":"https://www.orpha.net/en/disease/detail/90389","names":{"fr":{"name":"Mastocytose cutanée maculeuse télangiectasique"},"de":{"name":"Teleangiectasia macularis eruptiva perstans"},"es":{"name":"Telangiectasia macularis eruptiva perstans"},"it":{"name":"Telangectasia maculare eruttiva perstans"},"nl":{"name":"Telangiectasia macularis eruptiva perstans"},"pt":{"name":"Mastocitose cutânea, telangiectasia maculosa"},"pl":{"name":"Telangiektatyczna postać mastocytozy skórnej"},"cs":{"name":"Teleangiectasia macularis eruptiva persistans"},"uk":{"name":"Телеангіектазія плямиста еруптивна персистуюча"},"zh":{"name":"持久性发疹性斑状毛细血管扩张"},"tr":{"name":"Telanjiektazi makularis eruptiva perstans"}},"xrefs":[{"source":"ICD-10","code":"Q82.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"444226072"},{"source":"MONDO","code":"0019576","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000715747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263402","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043192","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":null,"hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}