poikiloderma with neutropenia

Term ID

DOID:0060551

Synonyms

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

References

• GARD:4085
• ICD10CM:D82.8
• MESH:C565820
• OMIM:604173
• ORDO:221046

Ontology

Human Disease   ( DOID:0060551 )