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poikiloderma with neutropenia
Summary
- Synonym
-
- poikiloderma with neutropenia, Clericuzio type
- 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.
- Super Class
- autosomal recessive disease skin disease
External Links
- Disease Ontology
- DOID:0060551
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07203 | Glutathione peroxidase 1 | |
| P20916 | Myelin-associated glycoprotein | |
| Q7L5Y1 | Mitochondrial enolase superfamily member 1 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 |
