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' |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019046 |
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| comment |
Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' |
|
| altLabel |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy HLD hypomyelinating 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. Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' |
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| has characteristic | ||
| has_exact_synonym |
HLD hypomyelinating leukodystrophy |
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| has_related_synonym |
leukodystrophy, hypomyelinating hypomyelinating leukoencephalopathy |
|
| label |
leukodystrophy |
|
| prefixIRI |
MONDO:0019046 |
|
| prefLabel |
leukodystrophy |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy |
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| 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 |