{"orpha":280654,"name":"Autosomal recessive nail dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280654/","orphanet_url":"https://www.orpha.net/en/disease/detail/280654","names":{"fr":{"name":"Dysplasie des ongles autosomique récessive","definition":"Anomalie rare et isolée des ongles caractérisée par des ongles épais, hyperplasiques, durs et hyperpigmentés, en forme de griffes, par une hyperkératose sous-unguéale, une onycholyse et une croissance lente des ongles. Les cas rapportés de la maladie sont de sévérité variable."},"de":{"name":"Nageldysplasie, autosomal-rezessive"},"es":{"name":"Displasia ungueal autosómica recesiva","definition":"Es una anomalía de las uñas aislada y poco frecuente. Se caracteriza por unas uñas en forma de garra, gruesas, hiperplásicas, duras e hiperpigmentadas, hiperqueratosis subungueal, onicólisis y crecimiento lento de las uñas. Se han registrado diferentes grados de afectación de la enfermedad."},"it":{"name":"Displasia ungueale autosomica recessiva","definition":"La displasia ungueale autosomica recessiva è un'anomalia isolata rara delle unghie, caratterizzata da unghie iperpigmentate spesse, iperplastiche e dure a forma di artiglio, ipercheratosi subungueale, onicolisi e crescita lenta delle unghie. La gravità della malattia è variabile."},"nl":{"name":"Autosomaal recessieve nageldysplasie","definition":"Autosomaal recessieve nageldysplasie is een zeldzame, geïsoleerde nagelanomalie die gekarakteriseerd wordt door klauwvormige, dikke, hyperplastische, harde en gehyperpigmenteerde nagels, subunguale hyperkeratose, onycholyse en trage nagelgroei. Er werden variabele gradaties van ernst van de ziekte gerapporteerd."},"pt":{"name":"Displasia das unhas autossómica recessiva"},"pl":{"name":"Autosomalna recesywna dystrofia paznokci"},"cs":{"name":"Autozomálně recesivní dysplázie nehtů"},"uk":{"name":"Аутосомно-рецесивна дисплазія нігтів","definition":"A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported."},"zh":{"name":"常染色体隐性指甲发育不良","definition":"常染色体隐性遗传甲发育不良是一种罕见的、孤立的指甲异常，其特征是爪形、增生性伴色素沉着的厚而硬的指甲、甲下角化过度、甲分离和指甲生长缓慢。据报道，该病严重程度各不相同。"},"tr":{"name":"Otozomal resesif tırnak displazisi"}},"xrefs":[{"source":"OMIM","code":"161050","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0029051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190687","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79369,"name":"Isolated nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"FZD6","name":"frizzled class receptor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21665003[PMID]","hgnc":"4044","ensembl":"ENSG00000164930","omim":"603409","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"21665003[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}