{"orpha":68356,"name":"Leukodystrophy","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-68356/","orphanet_url":"https://www.orpha.net/en/disease/detail/68356","names":{"fr":{"name":"Leucodystrophie"},"de":{"name":"Leukodystrophie"},"es":{"name":"Leucodistrofia"},"it":{"name":"Leucodistrofia"},"nl":{"name":"Leukodystrofie"},"pt":{"name":"Leucodistrofia"},"pl":{"name":"Leukodystrofia"},"cs":{"name":"Leukodystrofie"},"uk":{"name":"Лейкодистрофія"},"zh":{"name":"脑白质营养不良"},"tr":{"name":"Lökodistrofi"}},"xrefs":[{"source":"ICD-11","code":"8A44","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"468040251"},{"source":"MONDO","code":"0019046","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19046","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023520","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6895","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10024381","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":84096,"name":"OBSOLETE: Unknown leukodystrophy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[{"orpha":289494,"name":"4H leukodystrophy","type":"Disease"},{"orpha":773,"name":"Adult Refsum disease","type":"Disease"},{"orpha":99027,"name":"Adult-onset autosomal dominant leukodystrophy","type":"Disease"},{"orpha":313808,"name":"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia","type":"Disease"},{"orpha":652532,"name":"Adult-onset progressive leukoencephalopathy-early-onset deafness","type":"Disease"},{"orpha":51,"name":"Aicardi-Goutières syndrome","type":"Disease"},{"orpha":58,"name":"Alexander disease","type":"Disease"},{"orpha":502444,"name":"Alkaline ceramidase 3 deficiency","type":"Disease"},{"orpha":495844,"name":"C11ORF73-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease"},{"orpha":135,"name":"CACH syndrome","type":"Disease"},{"orpha":369942,"name":"CADDS","type":"Disease"},{"orpha":141,"name":"Canavan disease","type":"Disease"},{"orpha":909,"name":"Cerebrotendinous xanthomatosis","type":"Disease"},{"orpha":85136,"name":"Cystic leukoencephalopathy without megalencephaly","type":"Disease"},{"orpha":1659,"name":"Dermatoleukodystrophy","type":"Disease"},{"orpha":556985,"name":"Early-onset calcifying leukoencephalopathy-skeletal dysplasia","type":"Disease"},{"orpha":729649,"name":"Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder","type":"Disease"},{"orpha":662229,"name":"Episodic memory defect leukoencephalopathy","type":"Disease"},{"orpha":599376,"name":"Hypomyelination of early myelinating structures","type":"Disease"},{"orpha":139441,"name":"Hypomyelination with atrophy of basal ganglia and cerebellum","type":"Disease"},{"orpha":363412,"name":"Hypomyelination with brain stem and spinal cord involvement and leg spasticity","type":"Disease"},{"orpha":85163,"name":"Hypomyelination-congenital cataract syndrome","type":"Malformation syndrome"},{"orpha":487,"name":"Krabbe disease","type":"Disease"},{"orpha":139444,"name":"Leukoencephalopathy with bilateral anterior temporal lobe cysts","type":"Disease"},{"orpha":137898,"name":"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","type":"Disease"},{"orpha":363540,"name":"Leukoencephalopathy with mild cerebellar ataxia and white matter edema","type":"Disease"},{"orpha":163684,"name":"Leukoencephalopathy-dystonia-motor neuropathy syndrome","type":"Disease"},{"orpha":83629,"name":"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome","type":"Disease"},{"orpha":314051,"name":"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome","type":"Disease"},{"orpha":597874,"name":"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome","type":"Disease"},{"orpha":2478,"name":"Megalencephalic leukoencephalopathy with subcortical cysts","type":"Disease"},{"orpha":512,"name":"Metachromatic leukodystrophy","type":"Disease"},{"orpha":457406,"name":"Multiple mitochondrial dysfunctions syndrome type 4","type":"Disease"},{"orpha":527497,"name":"NKX6-2-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease"},{"orpha":2770,"name":"Nasu-Hakola disease","type":"Malformation syndrome"},{"orpha":436271,"name":"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy","type":"Disease"},{"orpha":702,"name":"Pelizaeus-Merzbacher disease","type":"Disease"},{"orpha":280270,"name":"Pelizaeus-Merzbacher-like disease","type":"Disease"},{"orpha":163746,"name":"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease","type":"Disease"},{"orpha":79189,"name":"Peroxisome biogenesis disorder","type":"Clinical group"},{"orpha":139447,"name":"Progressive cavitating leukoencephalopathy","type":"Disease"},{"orpha":431361,"name":"Progressive encephalopathy with leukodystrophy due to DECR deficiency","type":"Disease"},{"orpha":438114,"name":"RARS-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease"},{"orpha":99852,"name":"Ravine syndrome","type":"Disease"},{"orpha":440706,"name":"Ribose-5-P isomerase deficiency","type":"Disease"},{"orpha":99015,"name":"Spastic paraplegia type 2","type":"Disease"},{"orpha":611207,"name":"Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome","type":"Clinical syndrome"},{"orpha":466934,"name":"VPS11-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease"},{"orpha":43,"name":"X-linked adrenoleukodystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}