loading...| Preferred Name |
Alexander Disease [Disease/Finding] |
|
| Synonyms |
Dysmyelinogenic Leukodystrophy |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000010949 |
|
| altLabel |
Dysmyelinogenic Leukodystrophy Alexander's Disease Alexander Disease Fibrinoid Degeneration of Astrocytes Demyelinogenic Leukodystrophy Leukodystrophy with Rosenthal Fibers |
|
| cui |
C0270726 |
|
| MESH DEFINITION |
Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance. |
|
| MESH DUI |
D038261 |
|
| MeSH name |
Alexander Disease |
|
| MESH UI |
M0415670 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000010949 |
|
| NUI |
N0000010949 |
|
| prefLabel |
Alexander Disease [Disease/Finding] |
|
| SNOMED CID |
81854007 |
|
| tui |
T047 |
|
| subClassOf |