Disease association ontology term - MONDO:0011405 - poikiloderma with neutropenia
Term summary
- ID
- MONDO:0011405
- Name
- poikiloderma with neutropenia
- Ontology or CV name
- Disease association
- Definition
- A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
