JSON

leukodystrophy

^ http://purl.obolibrary.org/obo/MONDO_0019046

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

database cross reference
  • NCIT:C61253 (MONDO:equivalentTo)
  • SCTID:192781003 (MONDO:equivalentTo)
  • ICD9:330.0 (MONDO:i2s)
  • DOID:0060786 (MONDO:equivalentTo)
  • DOID:10579 (MONDO:equivalentTo)
  • MedDRA:10024381 (Orphanet:68356/e)
  • UMLS:CN228461 (MONDO:equivalentTo)
  • OMIMPS:312080 (MONDO:equivalentTo)
  • DOID:0050987 (MONDO:equivalentTo)
  • GARD:0006895 (MONDO:equivalentTo)
  • Orphanet:68356 (MONDO:equivalentTo)
  • UMLS:C0023520 (Orphanet:68356/e)
Subsets

gard_rare, disease_grouping, merged_class, ordo_group_of_disorders

abbreviation
HLD [ DOID:0060786 ]

closeMatch

http://identifiers.org/meddra/10024381

comment

Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'

definition

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.

exactMatch

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

has exact synonym

HLD, hypomyelinating leukodystrophy

has related synonym

leukodystrophy, hypomyelinating, hypomyelinating leukoencephalopathy

id

MONDO:0019046

seeAlso

https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy