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
External Links
Disease Ontology
DOID:2373
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
5313 PKLR pyruvate kinase L/R
7167 TPI1 triosephosphate isomerase 1
7368 UGT8 UDP glycosyltransferase 8
26033 ATRNL1 attractin like 1

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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: August 19, 2024