poikiloderma with neutropenia
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
MONDO:0015134
constitutional neutropenia
is_a
MONDO:0016382
hereditary poikiloderma
is_a
MONDO:0100118
hereditary skin disorder
is_a
Clericuzio type poikiloderma with neutropenia
related
PN
related
poikiloderma with neutropenia
exact
poikiloderma with neutropenia Clericuzio type
related
poikiloderma with neutropenia, Clericuzio type
exact
SPAC23C11.10