| Metadata | |
|---|---|
| ID | DOID:0112131 |
| Name | severe congenital neutropenia 2 |
| Definition | An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. https://pubmed.ncbi.nlm.nih.gov/12778173/ |
| Xrefs | |
| Synonyms |
SCN2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |