OBO ID: DOID:0060551
Term Name: poikiloderma with neutropenia Search Ontology:
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:
Ontology: Human Disease   (DOID:0060551)
OTHER poikiloderma with neutropenia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
USB1 Poikiloderma with neutropenia 604173
PHENOTYPE No data available

CITATIONS (2)