| Metadata | |
|---|---|
| ID | DOID:0112135 |
| Name | severe congenital neutropenia 8 |
| 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. https://pubmed.ncbi.nlm.nih.gov/28972538/ |
| Xrefs | |
| Synonyms |
autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities [EXACT] SCN8 [EXACT] SDSL [EXACT] Shwachman-Diamond syndrome-like [EXACT] |
| Parent Relationships |