neutral lipid storage disease
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:skin
gptkb:skeletal_muscle liver |
| gptkbp:associatedWith |
gptkb:ABHD5
gptkb:PNPLA2 |
| gptkbp:causedBy |
genetic disorder
|
| https://www.w3.org/2000/01/rdf-schema#label |
neutral lipid storage disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
610717
275630 |
| gptkbp:subspecies |
gptkb:neutral_lipid_storage_disease_with_myopathy
gptkb:Chanarin-Dorfman_syndrome |
| gptkbp:symptom |
muscle weakness
muscular dystrophy hepatomegaly steatosis |
| gptkbp:treatment |
dietary management
symptomatic therapy |
| gptkbp:bfsParent |
gptkb:hormone-sensitive_lipase
|
| gptkbp:bfsLayer |
7
|