{"orpha":79367,"name":"Syndromic hair shaft abnormality","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-79367/","orphanet_url":"https://www.orpha.net/en/disease/detail/79367","names":{"fr":{"name":"Syndrome avec anomalie de la gaine des cheveux"},"de":{"name":"Haarschaftanomalie, syndromale"},"es":{"name":"Anomalías sindrómicas del tallo del cabello"},"it":{"name":"Anomalie sindromiche dello stelo del capello"},"nl":{"name":"Syndromale haarschachtafwijking"},"pt":{"name":"Anomalias da haste capilar sindromática"},"pl":{"name":"Syndromiczne nieprawidłowości pokrywy włosowej"},"cs":{"name":"Syndromické abnormality stvolu vlasů"},"uk":{"name":"Синдромальна аномалія волосяного стрижня"},"zh":{"name":"综合征性毛干异常"},"tr":{"name":"Sendromik saç şaftı anormalliği"}},"xrefs":[{"source":"MONDO","code":"19282","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183450,"name":"Genetic hair anomaly","classifications":[156]},{"orpha":79363,"name":"Hair anomaly","classifications":[187]}],"children":[{"orpha":123,"name":"Björnstad syndrome","type":"Disease"},{"orpha":565,"name":"Menkes disease","type":"Disease"},{"orpha":2891,"name":"Pili torti-developmental delay-neurological abnormalities syndrome","type":"Malformation syndrome"},{"orpha":434809,"name":"Syndrome with woolly hair","type":"Category"},{"orpha":3352,"name":"Tricho-dento-osseous syndrome","type":"Malformation syndrome"},{"orpha":3351,"name":"Trichodental syndrome","type":"Malformation syndrome"},{"orpha":3361,"name":"Trichodysplasia-xeroderma syndrome","type":"Malformation syndrome"},{"orpha":33364,"name":"Trichothiodystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}