Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
Adult-onset Autosomal Dominant Leukodystrophy
|
| gptkbp:affects |
central nervous system
|
| gptkbp:associatedWith |
LMNB1
|
| gptkbp:category |
leukodystrophy
|
| gptkbp:causedBy |
duplication of LMNB1 gene
|
| gptkbp:firstDescribed |
1990s
|
| gptkbp:fullName |
Adult-onset Autosomal Dominant Leukodystrophy
|
| gptkbp:hasMRICharacteristic |
white matter abnormalities
|
| gptkbp:hasOrphanetID |
ORPHA:98949
|
| https://www.w3.org/2000/01/rdf-schema#label |
ADLD
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
169500
|
| gptkbp:onset |
adulthood
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
cognitive decline
spasticity autonomic dysfunction urinary incontinence progressive motor impairment |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:LMNA
|
| gptkbp:bfsLayer |
8
|