Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
neurological disorder |
| gptkbp:affects |
central nervous system
white matter |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:diagnosedBy |
MRI
genetic testing |
| gptkbp:field |
medical genetics
neurology |
| gptkbp:firstDescribed |
white matter degeneration
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leukodystrophy
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:subspecies |
gptkb:Adrenoleukodystrophy
gptkb:Canavan_disease gptkb:Metachromatic_leukodystrophy Pelizaeus-Merzbacher disease Krabbe disease |
| gptkbp:symptom |
muscle stiffness
difficulty swallowing hearing loss vision loss seizures developmental delay loss of motor skills |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:White_matter
|
| gptkbp:bfsLayer |
7
|