Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:enzyme_deficiency |
| gptkbp:affects |
red blood cells
|
| gptkbp:cause |
gptkb:anemia
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1960s
|
| 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:Nonspherocytic_hemolytic_anemia
gptkb:hexokinase_I |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
hexokinase deficiency
|