Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
leukodystrophy |
| gptkbp:affects |
central nervous system
|
| gptkbp:characterizedBy |
spongy degeneration of the brain
|
| gptkbp:diagnosedBy |
magnetic resonance imaging
genetic testing |
| gptkbp:firstDescribed |
gptkb:Myrtle_Canavan
|
| https://www.w3.org/2000/01/rdf-schema#label |
Canavan disease
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ASPA_gene
|
| gptkbp:notableFor |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:OMIM |
271900
|
| gptkbp:otherName |
spongy degeneration of the central nervous system
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
seizures developmental delay macrocephaly |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Ashkenazi_Jews
|
| gptkbp:bfsLayer |
4
|