| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
poikiloderma with neutropenia, Clericuzio type [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |