Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hematologic disease |
| gptkbp:affects |
red blood cells
|
| gptkbp:characterizedBy |
elliptical red blood cells
|
| gptkbp:diagnosedBy |
genetic testing
blood smear |
| gptkbp:firstDescribed |
1900s
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary elliptocytosis
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
band 3 gene
protein 4.1 gene spectrin gene |
| gptkbp:OMIM |
611804
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:hereditary_spherocytosis
|
| gptkbp:symptom |
jaundice
splenomegaly mild anemia |
| gptkbp:treatment |
gptkb:splenectomy
|
| gptkbp:bfsParent |
gptkb:Band_3_protein
gptkb:Spectrin gptkb:SLC4A1 |
| gptkbp:bfsLayer |
7
|