Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
enzyme deficiency |
gptkbp:affects |
red blood cells
|
gptkbp:cause |
gptkb:anemia
|
gptkbp:diagnosedBy |
genetic testing
enzyme assay |
gptkbp:firstDescribed |
1960s
|
https://www.w3.org/2000/01/rdf-schema#label |
hexokinase deficiency
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:involves |
hexokinase enzyme
|
gptkbp:OMIM |
235700
|
gptkbp:symptom |
fatigue
jaundice pallor |
gptkbp:treatment |
supportive care
blood transfusion |
gptkbp:bfsParent |
gptkb:hexokinase_I
|
gptkbp:bfsLayer |
7
|