| Metadata | |
|---|---|
| ID | DOID:0112132 |
| Name | severe congenital neutropenia 5 |
| Definition | A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. https://pubmed.ncbi.nlm.nih.gov/23599270/, https://pubmed.ncbi.nlm.nih.gov/23738510/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome [EXACT] congenital neutropenia-myelofibrosis-nephromegaly syndrome [EXACT] SCN5 [EXACT] VPS45 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |