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Metadata
ID	DOID:0060551
Name	poikiloderma with neutropenia
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. https://www.ncbi.nlm.nih.gov/pubmed/20734427
Xrefs	GARD:4085 ICD10CM:D82.8 MESH:C565820 MIM:604173 ORDO:221046
Subsets	DO_rare_slim
Synonyms	poikiloderma with neutropenia, Clericuzio type [EXACT]
Parent Relationships	is_a skin disease is_a autosomal recessive disease