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severe congenital neutropenia 8
Summary
- Synonym
-
- SCN8
- SDSL
- Shwachman-Diamond syndrome-like
- autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
- Definition
- An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.
- Super Class
- autosomal dominant severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0112135
- Mondo Disease Ontology
- OMIM
Related Genes
- 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 |
| HP:0003623 | Neonatal onset |
| HP:0001738 | Exocrine pancreatic insufficiency |
