SAMD9L-related spectrum and myeloid neoplasm risk
A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.
MONDO:0015356
hereditary neoplastic syndrome
is_a
SAMD9L-related spectrum and myeloid neoplasm risk
exact