{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","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-98096/","orphanet_url":"https://www.orpha.net/en/disease/detail/98096","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive d'origine métabolique"},"de":{"name":"Ataxie, zerebelläre, autosomal-rezessive, metabolische"},"es":{"name":"Ataxia cerebelosa metabólica autosómica recesiva"},"it":{"name":"Atassia cerebellare metabolica, autosomica recessiva"},"nl":{"name":"Autosomaal recessieve metabole cerebellaire ataxie"},"pt":{"name":"Ataxia cerebelosa metabólica autossómica recessiva"},"pl":{"name":"Autosomalna recesywna metaboliczna ataksja możdżkowa"},"cs":{"name":"Autozomálně recesivní metabolická cerebelární ataxie"},"uk":{"name":"Аутосомно-рецесивна метаболічна мозочкова атаксія"},"zh":{"name":"常染色体隐性遗传代谢性小脑共济失调"},"tr":{"name":"Otozomal resesif metabolik serebellar ataksi"}},"xrefs":[{"source":"MONDO","code":"0020044","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681517","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1172,"name":"Autosomal recessive cerebellar ataxia","classifications":[156,181]}],"children":[{"orpha":14,"name":"Abetalipoproteinemia","type":"Disease"},{"orpha":773,"name":"Adult Refsum disease","type":"Disease"},{"orpha":96,"name":"Ataxia with vitamin E deficiency","type":"Disease"},{"orpha":247815,"name":"Autosomal recessive ataxia due to PEX10 deficiency","type":"Disease"},{"orpha":642954,"name":"Autosomal recessive ataxia due to PEX16 deficiency","type":"Disease"},{"orpha":642965,"name":"Autosomal recessive ataxia due to PEX2 deficiency","type":"Disease"},{"orpha":352641,"name":"Autosomal recessive cerebellar ataxia with late-onset spasticity","type":"Disease"},{"orpha":363429,"name":"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","type":"Disease"},{"orpha":95433,"name":"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome","type":"Disease"},{"orpha":909,"name":"Cerebrotendinous xanthomatosis","type":"Disease"},{"orpha":772,"name":"Infantile Refsum disease","type":"Disease"},{"orpha":94125,"name":"Recessive mitochondrial ataxia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}