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MIRAGE
severe congenital neutropenia 1
Summary
- Definition
- A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.
- Super Class
- autosomal dominant disease severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0080625
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08246 | Neutrophil elastase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001581 | Recurrent skin infections |
| HP:0012311 | Monocytosis |
| HP:0001909 | Leukemia |
| HP:0003453 | Antineutrophil antibody positivity |
| HP:0000155 | Oral ulcer |
| HP:0002014 | Diarrhea |
| HP:0004808 | Acute myeloid leukemia |
| HP:0001028 | Hemangioma |
| HP:0011107 | Recurrent aphthous stomatitis |
| HP:0001888 | Lymphopenia |
