|OBO ID: DOID:0060551|
|Term Name:||poikiloderma with neutropenia||Search Ontology:|
|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. https://www.ncbi.nlm.nih.gov/pubmed/20734427|
|Ontology:||Human Disease (DOID:0060551)|
|is a type of:||
OTHER poikiloderma with neutropenia PAGES
PHENOTYPE No data available
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