Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060551 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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