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Summary Literature (0)
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 : usb1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011405 - poikiloderma with neutropenia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), skin disease (is_a)