loading...| Preferred Name | leukodystrophy | |
| Synonyms |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy HLD hypomyelinating leukodystrophy |
|
| Definitions |
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. Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019046 |
|
| comment |
Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' |
|
| closeMatch | ||
| database_cross_reference |
OMIMPS:312080 UMLS:C0023520 UMLS:CN228461 ICD10:E75.2 DOID:0050987 MedDRA:10024381 ICD9:330.0 COHD:374912 SCTID:192781003 NCIT:C61253 DOID:10579 DOID:0060786 GARD:0006895 Orphanet:68356 |
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| disease has feature | ||
| disease has major feature | ||
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0023520 http://purl.obolibrary.org/obo/DOID_0060786 http://identifiers.org/snomedct/192781003 http://purl.obolibrary.org/obo/DOID_0050987 http://purl.obolibrary.org/obo/DOID_10579 http://linkedlifedata.com/resource/umls/id/CN228461 http://www.orpha.net/ORDO/Orphanet_68356 |
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| has exact synonym |
HLD hypomyelinating leukodystrophy |
|
| has related synonym |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy |
|
| id |
MONDO:0019046 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
leukodystrophy |
|
| notation |
MONDO:0019046 |
|
| prefLabel |
leukodystrophy |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual 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. |
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| subClassOf |