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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. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
Synonyms:
Echinobase Genes : usb1
MIM:604173 - poikiloderma with neutropenia; pn |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
skin disease (is_a)