{"orpha":100982,"name":"Autosomal recessive pure spastic paraplegia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal recessive pure HSP","Autosomal recessive pure SPG","Autosomal recessive uncomplicated HSP","Autosomal recessive uncomplicated SPG","Autosomal recessive uncomplicated spastic paraplegia"],"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-100982/","orphanet_url":"https://www.orpha.net/en/disease/detail/100982","names":{"fr":{"name":"Paraplégie spastique pure autosomique récessive","synonyms":["HSP pure autosomique récessive","SPG pure autosomique récessive"]},"de":{"name":"Hereditäre spastische Paraplegie, autosomal-rezessive reine"},"es":{"name":"Paraplejía espástica hereditaria autosómica recesiva pura"},"it":{"name":"Paraplegia spastica ereditaria pura autosomica recessiva"},"nl":{"name":"Autosomaal recessieve zuivere spastische paraplegie"},"pt":{"name":"Paraplegia espástica autossómica recessiva pura"},"pl":{"name":"Autosomalna recesywna czysta paraplegia spastyczna","synonyms":["Autosomalna recesywna czysta HSP","Autosomalna recesywna czysta SPG","Autosomalna recesywna niepowikłana HSP","Autosomalna recesywna niepowikłana paraplegia spastyczna","Autosomalna recesywna niepowikłana SPG"]},"cs":{"name":"Autozomálně recesivní čistě spastická paraplegie","synonyms":["Autozomálně recesivní čistá HSP","Autozomálně recesivní čistá SPG","Autozomálně recesivní nekomplikovaná HSP","Autozomálně recesivní nekomplikovaná SPG","Autozomálně recesivní nekomplikovaná spastická paraplegie"]},"uk":{"name":"Аутосомно-рецесивна чиста спастична параплегія","synonyms":["Аутосомно-рецесивний чистий HSP","Аутосомно-рецесивний чистий SPG","Аутосомно-рецесивний неускладнений HSP","Аутосомно-рецесивна неускладнена спастична параплегія","Аутосомно-рецесивний неускладнений SPG"]},"zh":{"name":"常染色体隐性遗传纯痉挛性截瘫","synonyms":["常染色体隐性遗传单纯型SPG"]},"tr":{"name":"Otozomal resesif saf spastik parapleji","synonyms":["Otozomal çekinik saf HSP","Otozomal çekinik saf SPG","Otozomal çekinik komplike olmayan HSP","Otozomal çekinik komplike olmayan SPG","Otozomal çekinik komplike olmayan spastik parapleji"]}},"xrefs":[{"source":"MONDO","code":"15090","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680376","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19773","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102012,"name":"Pure hereditary spastic paraplegia","classifications":[156,181]}],"children":[{"orpha":101004,"name":"Autosomal recessive spastic paraplegia type 24","type":"Disease"},{"orpha":101008,"name":"Autosomal recessive spastic paraplegia type 28","type":"Disease"},{"orpha":401785,"name":"Autosomal recessive spastic paraplegia type 62","type":"Disease"},{"orpha":401840,"name":"Autosomal recessive spastic paraplegia type 71","type":"Disease"},{"orpha":631076,"name":"Autosomal recessive spastic paraplegia type 83","type":"Disease"},{"orpha":401849,"name":"Autosomal spastic paraplegia type 72","type":"Disease"},{"orpha":689234,"name":"RNASEH2B-related hereditary spastic paraplegia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}