leukodystrophy
Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. [ https://rarediseases.org/rare-diseases/leukodystrophy/ ]
Term info
leukodystrophy
- HLD
- hypomyelinating leukodystrophy
gard_rare, disease_grouping, merged_class, ordo_group_of_disorders
http://identifiers.org/meddra/10024381
Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'
http://linkedlifedata.com/resource/umls/id/CN228461, http://purl.obolibrary.org/obo/DOID_0060786, http://purl.obolibrary.org/obo/DOID_0050987, http://purl.obolibrary.org/obo/Orphanet_68356, http://identifiers.org/snomedct/192781003, http://purl.obolibrary.org/obo/DOID_10579, https://omim.org/phenotypicSeries/PS312080, http://linkedlifedata.com/resource/umls/id/C0023520, http://purl.obolibrary.org/obo/NCIT_C61253
leukodystrophy, hypomyelinating, hypomyelinating leukoencephalopathy
MONDO:0019046
https://icd.codes/icd10cm/E75.2
https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy