_:vb50939044 . _:vb50939044 . . "GARD:4085"^^ . . "ICD10CM:D82.8"^^ . "DOID:0060551"^^ . "poikiloderma with neutropenia"@en . "disease_ontology"^^ . _:vb50939044 . . _:vb50939044 . "MESH:C565820"^^ . . _:vb50939044 . "poikiloderma with neutropenia, Clericuzio type"@en . "OMIM:604173"^^ . "ORDO:221046"^^ . "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."^^ .