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/ ]
Synonyms: HLD hypomyelinating leukodystrophy
Term information
- NORD:1367 (MONDO:NORD)
- Orphanet:68356 (MONDO:equivalentTo)
- GARD:6895 (Orphanet:68356)
- NCIT:C61253 (MONDO:equivalentTo)
- OMIMPS:312080 (MONDO:equivalentTo)
- SCTID:192781003 (MONDO:equivalentTo)
- DOID:10579 (MONDO:equivalentTo)
- DOID:0060786 (MONDO:equivalentTo)
- MedDRA:10024381 (Orphanet:68356/e)
- DOID:0050987 (MONDO:equivalentTo)
- UMLS:C0023520 (Orphanet:68356/e)
- ICD9:330.0 (MONDO:i2s)
gard_rare, disease_grouping, rare, merged_class, nord_rare, orphanet_rare, ordo_group_of_disorders
Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'
http://purl.obolibrary.org/obo/DOID_0060786
http://purl.obolibrary.org/obo/DOID_0050987
http://www.orpha.net/ORDO/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