{"orpha":631076,"name":"Autosomal recessive spastic paraplegia type 83","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-631076/","orphanet_url":"https://www.orpha.net/en/disease/detail/631076","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 83"},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 83"},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 83"},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 83"},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 83"},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 83"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 83"},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 83"},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 83"}},"xrefs":[{"source":"OMIM","code":"619027","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816768","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100982,"name":"Autosomal recessive pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HPDL","name":"4-hydroxyphenylpyruvate dioxygenase like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33188300[PMID]","hgnc":"28242","ensembl":"ENSG00000186603","omim":"618994","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"32707086[PMID]_33188300[PMID]_33970200[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32707086[PMID]_33188300[PMID]_33970200[PMID]_ORPHANET"}],"phenotypes":null}