/elliptocytosis 1

elliptocytosis 1

Rare Disease

MONDO:0012731

Also Known As

EPB41 hereditary elliptocytosiselliptocytosis 1elliptocytosis type 1elliptocytosis-1hereditary elliptocytosis caused by mutation in EPB414.1- trait4.1-minus traitEL1Protein 4.1 of erythrocyte Membrane, defect ofelliptocytosis, Rhesus-linked type

Definition

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.

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Associated Genes

EPB41 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:611804 ↗

GARD

GARD:15528 ↗

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