loading...| Preferred Name | Leukodystrophy | |
| Synonyms |
Degeneration of white matter of brain |
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| Definitions |
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. |
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| ID |
http://purl.obolibrary.org/obo/HP_0002415 |
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| comment |
The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. |
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| database_cross_reference |
SNOMEDCT_US:192781003 UMLS:C0023520 |
|
| definition |
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. |
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| has_alternative_id |
HP:0007079 HP:0006926 |
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| has_exact_synonym |
Degeneration of white matter of brain |
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| has_obo_namespace |
human_phenotype |
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| id |
HP:0002415 |
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| label |
Leukodystrophy |
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| notation |
HP:0002415 |
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| prefLabel |
Leukodystrophy |
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| treeView | ||
| subClassOf |