hereditary spherocytosis type 5
Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.
MONDO:0019350
hereditary spherocytosis
is_a
EPB42 hereditary spherocytosis
exact
HS5
exact
SPH5
exact
hereditary spherocytosis caused by mutation in EPB42
exact
hereditary spherocytosis type 5
exact
spherocytosis, type 5
related