/elliptocytosis 2

elliptocytosis 2

Rare Disease

MONDO:0007533

Also Known As

SPTA1 hereditary elliptocytosiselliptocytosis 2elliptocytosis type 2elliptocytosis-2hereditary elliptocytosis caused by mutation in SPTA1EL2elliptocytosis, Rhesus-unlinked type

Definition

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.

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Associated Genes

SPTA1 ↗

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

External Resources

OMIM

OMIM:130600 ↗

GARD

GARD:15064 ↗

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