Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:abbreviation |
gptkb:NLSD-M
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1974
|
| gptkbp:hasFeature |
gptkb:Jordans'_anomaly_in_leukocytes
accumulation of neutral lipids in tissues |
| gptkbp:hasOrphanetID |
gptkb:ORPHA:636
|
| https://www.w3.org/2000/01/rdf-schema#label |
NLSD with myopathy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:PNPLA2_gene
|
| gptkbp:OMIM |
610717
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
gptkb:diabetes_mellitus
elevated creatine kinase cardiomyopathy muscular dystrophy hepatomegaly progressive muscle weakness |
| gptkbp:synonym |
gptkb:Neutral_Lipid_Storage_Disease_with_Myopathy
|
| gptkbp:treatment |
supportive care
physical therapy cardiac monitoring |
| gptkbp:bfsParent |
gptkb:neutral_lipid_storage_disease_with_myopathy
|
| gptkbp:bfsLayer |
7
|