{"orpha":170,"name":"Woolly hair","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial woolly hair syndrome","Familial wooly hair syndrome","Hereditary woolly hair syndrome","Hereditary wooly hair syndrome","Wooly hair"],"definition":"A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-170/","orphanet_url":"https://www.orpha.net/en/disease/detail/170","names":{"fr":{"name":"Cheveux laineux","synonyms":["Syndrome des cheveux laineux familial","Syndrome des cheveux laineux héréditaire"],"definition":"Maladie congénitale rare de la peau définie comme une anomalie de la structure du cuir chevelu et caractérisée par un aspect extrêmement crépu des cheveux."},"de":{"name":"Wollhaare","synonyms":["Wollhaar-Syndrom, familiäres"],"definition":"Eine seltene angeborene Hautkrankheit, die als Anomalie der Kopfhaarstruktur definiert ist und sich durch eine extreme Kräuselung der Haare auszeichnet."},"es":{"name":"Cabello lanoso","synonyms":["Síndrome de cabello lanoso familiar","Síndrome de cabello lanoso hereditario","Síndrome de pelo lanoso"],"definition":"Es una enfermedad congénita cutánea poco frecuente, definida como una anomalía de la estructura capilar y que se caracteriza por un cabello extremadamente rizado."},"it":{"name":"Capelli lanosi","synonyms":["Sindrome ereditaria dei capelli lanosi","Sindrome familiare dei capelli lanosi"],"definition":"Si tratta di una malattia congenita rara della cute, caratterizzata da un'anomalia della struttura dei capelli, che appaiono estremamente crespi."},"nl":{"name":"Wollig haar","synonyms":["Erfelijk kroeshaarsyndroom","Erfelijk wooly hair-syndroom","Familiaal kroeshaarsyndroom","Familiaal woolly hair-syndroom","Wooly hair"],"definition":"Een zeldzame, congenitale huidziekte, gedefinieerd als een anomalie van de structuur van haar op de scalp, en gekarakteriseerd door extreem krullend haar."},"pt":{"name":"Cabelo lanoso"},"pl":{"name":"Włosy wełniste","synonyms":["Dziedziczny zespół włosów wełnistych","Rodzinny zespół włosów wełnistych"]},"cs":{"name":"Vlněné vlasy","synonyms":["Familiární syndrom vlněných vlasů","Hereditární syndrom vlněných vlasů"]},"uk":{"name":"Вовняне волосся","synonyms":["Сімейний синдром вовняного волосся","Сімейний синдром вовняного волосся","Спадковий синдром вовняного волосся","Спадковий синдром вовняного волосся","Шерстяне волосся"],"definition":"A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair."},"zh":{"name":"羊毛状发","synonyms":["遗传性羊毛综合症"]},"tr":{"name":"Yünlü saç","synonyms":["Kıllı saç","Ailesel kıllı saç sendromu","Ailesel kıllı saç sendromu","Kalıtsal kıllı saç sendromu","Kalıtsal yünlü saç sendromu"]}},"xrefs":[{"source":"OMIM","code":"194300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"278150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604379","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615896","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616760","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.1","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EC21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"969027614"},{"source":"MONDO","code":"0008686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536745","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343073","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5597","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048017","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1409,"name":"Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79366,"name":"Isolated hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT25","name":"keratin 25","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26160856[PMID]","hgnc":"30839","ensembl":"ENSG00000204897","omim":"616646","loci":["17q21.2"]},{"symbol":"KRT71","name":"keratin 71","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22592156[PMID]","hgnc":"28927","ensembl":"ENSG00000139648","omim":"608245","loci":["12q13.13"]},{"symbol":"KRT74","name":"keratin 74","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20346438[PMID]_21188418[PMID]","hgnc":"28929","ensembl":"ENSG00000170484","omim":"608248","loci":["12q13.13"]},{"symbol":"LIPH","name":"lipase H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21426374[PMID]","hgnc":"18483","ensembl":"ENSG00000163898","omim":"607365","loci":["3q27.2"]},{"symbol":"LPAR6","name":"lysophosphatidic acid receptor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21426374[PMID]","hgnc":"15520","ensembl":"ENSG00000139679","omim":"609239","loci":["13q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002217","label":"Slow-growing hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}