{"orpha":207015,"name":"Rare hereditary disease with peripheral neuropathy","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-207015/","orphanet_url":"https://www.orpha.net/en/disease/detail/207015","names":{"fr":{"name":"Maladie rare héréditaire avec neuropathie périphérique"},"de":{"name":"Seltene Erbkrankheit mit peripherer Neuropathie"},"es":{"name":"Enfermedad rara hereditaria con neuropatía periférica"},"it":{"name":"Malattia ereditaria rara con neuropatia periferica"},"nl":{"name":"Zeldzame erfelijke ziekte met perifere neuropathie"},"pt":{"name":"Doença rara hereditária com neuropatia periférica"},"pl":{"name":"Rzadka choroba dziedziczna z neuropatią obwodową"},"cs":{"name":"Vzácná hereditární onemocnění s periferní neuropatií"},"uk":{"name":"Рідкісне спадкове захворювання з периферичною нейропатією"},"zh":{"name":"罕见遗传性疾病伴周围神经病"},"tr":{"name":"Periferik nöropati ile seyreden nadir kalıtsal hastalık"}},"xrefs":[{"source":"MONDO","code":"16132","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680817","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]}],"children":[{"orpha":352723,"name":"Attenuated Chédiak-Higashi syndrome","type":"Disease"},{"orpha":167,"name":"Chédiak-Higashi syndrome","type":"Disease"},{"orpha":707937,"name":"Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome","type":"Malformation syndrome"},{"orpha":171848,"name":"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome","type":"Disease"},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","type":"Category"},{"orpha":207025,"name":"Rare hereditary neurologic disease with peripheral neuropathy","type":"Category"},{"orpha":207021,"name":"Rare hereditary systemic disease with peripheral neuropathy","type":"Category"},{"orpha":869,"name":"Triple A syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}