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Repository for lectin-assisted multimodality data
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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:0002863 | Myelodysplasia |
| HP:0012384 | Rhinitis |
| HP:0002090 | Pneumonia |
| HP:0001875 | Neutropenia |
| HP:0006480 | Premature loss of teeth |
| HP:0000704 | Periodontitis |
| HP:0004429 | Recurrent viral infections |
| HP:0001915 | Aplastic anemia |
