hereditary elliptocytosis

Summary
Synonym
  • Congenital elliptocytosis
  • ovalocytosis
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.
Super Class
hematopoietic system disease
Disease Ontology
DOID:2373
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2035 EPB41 erythrocyte membrane protein band 4.1
6521 SLC4A1 solute carrier family 4 member 1 (Diego blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
20533 Slc4a1 solute carrier family 4 (anion exchanger), member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24779 Slc4a1 solute carrier family 4 member 1 (Diego blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
37205 cora coracle
Displaying 1 entry
Gene ID Gene Symbol Description Source
180943 abts-4 Anion exchange protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024