poikiloderma with neutropenia

Summary

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

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: usb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011405 - poikiloderma with neutropenia

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)