JSON

leukodystrophy

Go to external page 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/ ]

Synonyms: HLD hypomyelinating leukodystrophy

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:1200575 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:68356 (MONDO:equivalentTo)
  • NORD:1367 (MONDO:NORD)
  • DOID:10579 (MONDO:equivalentTo)
  • NANDO:2200836 (https://orcid.org/0000-0003-0011-764X)
  • ICD9:330.0 (MONDO:i2s)
  • SCTID:192781003 (MONDO:equivalentTo)
  • GARD:6895 (MONDO:GARD)
  • DOID:0060786 (MONDO:equivalentTo)
  • UMLS:C0023520 (MONDO:equivalentTo)
  • NCIT:C61253 (MONDO:equivalentTo)
  • icd11.foundation:468040251 (https://orcid.org/0000-0001-5208-3432)
  • MedDRA:10024381 (Orphanet:68356/e)
  • DOID:0050987 (MONDO:equivalentTo)
  • MEDGEN:6070 (MONDO:equivalentTo)
  • OMIMPS:312080 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, merged_class, rare, nord_rare, 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'

exactMatch

http://purl.obolibrary.org/obo/DOID_0050987

http://purl.obolibrary.org/obo/DOID_0060786

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://identifiers.org/medgen/6070

http://purl.obolibrary.org/obo/NCIT_C61253

http://linkedlifedata.com/resource/umls/id/C0023520

has related synonym

hypomyelinating leukoencephalopathy

leukodystrophy, hypomyelinating

id

MONDO:0019046

seeAlso

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml