Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutation in HEXB gene
|
| gptkbp:characterizedBy |
accumulation of GM2 ganglioside
progressive neurodegeneration |
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1968
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sandhoff disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Konrad_Sandhoff
|
| gptkbp:onset |
adult
infancy juvenile |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:relatedTo |
gptkb:Tay-Sachs_disease
|
| gptkbp:symptom |
muscle weakness
hearing loss vision loss seizures cherry-red spot in retina |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:hexosaminidase_A
|
| gptkbp:bfsLayer |
6
|