Term Name: | poikiloderma with neutropenia |
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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 ) |