Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:anemia
genetic disorder |
| gptkbp:affects |
red blood cells
|
| gptkbp:associatedWith |
gptkb:ANK1
gptkb:EPB42 gptkb:SPTA1 gptkb:SPTB gptkb:SLC4A1 |
| gptkbp:cause |
extravascular hemolysis
increased red cell destruction |
| gptkbp:causedBy |
mutations in genes encoding red blood cell membrane proteins
|
| gptkbp:complication |
gptkb:aplastic_crisis
leg ulcers cholelithiasis |
| gptkbp:diagnosedBy |
gptkb:osmotic_fragility_test
blood smear EMA binding test |
| gptkbp:firstDescribed |
1871
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary Spherocytosis
|
| gptkbp:ICD-10_code |
D58.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D006482
|
| gptkbp:namedAfter |
spherocyte shape of red blood cells
|
| gptkbp:OMIM |
182900
|
| gptkbp:prevalence |
most common inherited hemolytic anemia in people of Northern European descent
|
| gptkbp:redCellMorphology |
spherocytes
|
| gptkbp:symptom |
gptkb:anemia
jaundice splenomegaly gallstones |
| gptkbp:treatment |
gptkb:splenectomy
blood transfusion folic acid supplementation |
| gptkbp:bfsParent |
gptkb:Red_Blood_Morphology
|
| gptkbp:bfsLayer |
7
|