Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
metabolic disorder |
| gptkbp:affects |
sialic acid metabolism
|
| gptkbp:causedBy |
mutation in GNE gene
|
| gptkbp:firstDescribed |
1979
|
| gptkbp:hasAbnormalityOf |
increased urinary excretion of free sialic acid
|
| https://www.w3.org/2000/01/rdf-schema#label |
sialuria
|
| gptkbp:ICD-10_code |
E77.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:symptom |
failure to thrive
hepatomegaly mild developmental delay |
| gptkbp:bfsParent |
gptkb:GNE
|
| gptkbp:bfsLayer |
8
|