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DOID:0060551 - poikiloderma with neutropenia
Disease 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.
Synonyms: poikiloderma with neutropenia, Clericuzio type,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0011405 - poikiloderma with neutropenia |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee