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GENE - TERM ANNOTATION REPORT

RGD ID: 18526683
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SPTB
Name: spectrin beta, erythrocytic
Acc ID: DOID:2373
Term: hereditary elliptocytosis
Definition: A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hereditary_elliptocytosis "DO" "DO", http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html "DO" "DO", https://research.nhgri.nih.gov/RBCmembrane/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
SPTB ISOSPTB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ElliptocytosisPMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899
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