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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

OMIM: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

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