Severe Congenital Neutropenia 5
Disease ID: disease_node_18060
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| Dbxref | MIM:615285, ORDO:369852 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050590 |
| Data Source | DOID |
| Synonyms | SCN5, VPS45 deficiency, congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| Doid Label | severe congenital neutropenia 5 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18060 |
| Doid Id | DOID_0112132 |
| Disease Has Basis In | HP_0001197 |
| Label | Severe Congenital Neutropenia 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Severe Congenital Neutropenia(ID:disease_node_18054) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)