Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
hematologic disease |
gptkbp:affects |
red blood cells
|
gptkbp:alsoKnownAs |
elliptocytosis
|
gptkbp:cause |
gptkb:anemia
|
gptkbp:characterizedBy |
elliptical red blood cells
|
gptkbp:diagnosedBy |
family history
blood smear |
gptkbp:firstDescribed |
1900s
|
https://www.w3.org/2000/01/rdf-schema#label |
Hereditary elliptocytosis
|
gptkbp:ICD-10_code |
D58.2
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:mutationAssociatedWith |
band 3 gene
protein 4.1 gene spectrin gene |
gptkbp:OMIM |
611804
|
gptkbp:prevalence |
rare
|
gptkbp:symptom |
jaundice
splenomegaly mild anemia |
gptkbp:treatment |
gptkb:splenectomy
|
gptkbp:bfsParent |
gptkb:Elliptocytes
|
gptkbp:bfsLayer |
8
|