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Echinobase
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. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.

Synonyms:

Echinobase Genes : usb1


OMIM:
MIM:604173 - poikiloderma with neutropenia; pn

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

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