{"orpha":689234,"name":"RNASEH2B-related hereditary spastic paraplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ribonuclease H2 subunit B-related hereditary spastic paraplegia"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-689234/","orphanet_url":"https://www.orpha.net/en/disease/detail/689234","names":{"fr":{"name":"Paraplégie spastique héréditaire associée à RNASEH2B","synonyms":["Paraparésie spastique héréditaire associée à RNASEH2B","Paraplégie spastique héréditaire associée au gène Ribonuclease H2 subunit B"]},"de":{"name":"Hereditäre spastische Paraplegie, RNASEH2B-assoziierte"},"es":{"name":"Paraplejía espástica hereditaria asociada a RNASEH2B","synonyms":["Paraplejía espástica hereditaria asociada a la subunidad B de la ribonucleasa H2"]},"it":{"name":"Paraplegia spastica ereditaria correlata a RNASEH2B","synonyms":["Paraplegia spastica ereditaria correlata alla subunità B della ribonucleasi H2"]},"nl":{"name":"RNASEH2B-gerelateerde hereditaire spastische paraplegie","synonyms":["Ribonuclease H2 subeenheid B-gerelateerde hereditaire spastische paraplegie"]},"pt":{"name":"Paraplegia espástica hereditária RNASEH2B-relacionada"},"pl":{"name":"Dziedziczna paraplegia spastyczna związana z RNASEH2B","synonyms":["Ribonuclease H2 subunit B-related hereditary spastic paraplegia"]},"cs":{"name":"Dědičná spastická paraplegie související s RNASEH2B","synonyms":["Ribonuclease H2 subunit B-related hereditary spastic paraplegia"]}},"xrefs":[{"source":"OMIM","code":"610181","qualifier":"NTBT","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,"icd11_uri":"null"}],"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":"RNASEH2B","name":"ribonuclease H2 subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38229641[PMID]","hgnc":"25671","ensembl":"ENSG00000136104","omim":"610326","loci":["13q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"15908569[PMID]_25243380[PMID]_30826161[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"15908569[PMID]_25243380[PMID]_30826161[PMID]_ORPHANET"}],"phenotypes":null}