poikiloderma with neutropenia (DOID:0060551)
Alliance: disease page
Synonyms: poikiloderma with neutropenia, Clericuzio type
Alt IDs: OMIM:604173, ICD10CM:D82.8, MESH:C565820, ORDO:221046
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.