Term Name: poikiloderma with neutropenia
Synonyms:
Definition: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.
Ontology: Human Disease [DOID:0060551]   ( DOID:0060551 )

Relationships
is a type of: autosomal recessive disease skin disease