loading...| Preferred Name | leukoencephalopathy with vanishing white matter | |
| Synonyms |
ovarioleukodystrophy CACH/VWM childhood ataxia with central nervous system hypomyelination CACH vanishing white matter leukodystrophy |
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| Definitions |
A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060868 |
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| alternative label |
ovarioleukodystrophy CACH/VWM childhood ataxia with central nervous system hypomyelination CACH vanishing white matter leukodystrophy |
|
| database_cross_reference |
ICD10CM:E75.2 ORDO:157716 ORDO:157713 ORDO:157719 MIM:PS603896 GARD:231 ORDO:135 |
|
| definition |
A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. |
|
| has exact synonym |
CACH/VWM childhood ataxia with central nervous system hypomyelination CACH vanishing white matter leukodystrophy |
|
| has material basis in | ||
| has narrower match |
ORDO:157716 ORDO:157713 ORDO:157719 |
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| has related match |
ORDO:99853 |
|
| has_obo_namespace |
disease_ontology |
|
| has_related_synonym |
ovarioleukodystrophy |
|
| id |
DOID:0060868 |
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| in_subset | ||
| label |
leukoencephalopathy with vanishing white matter |
|
| notation |
DOID:0060868 |
|
| note |
A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. |
|
| preferred label |
leukoencephalopathy with vanishing white matter |
|
| prefLabel |
leukoencephalopathy with vanishing white matter |
|
| subClassOf |