Severe Congenital Neutropenia 3
Disease ID: disease_node_18059
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:302, MIM:610738, ORDO:99749 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050590 |
| Data Source | DOID |
| Synonyms | Kostmann disease, Kostmann syndrome, SCN3, infantile agranulocytosis |
| Doid Label | severe congenital neutropenia 3 |
| Doid Description | A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18059 |
| Doid Id | DOID_0112133 |
| Disease Has Basis In | HP_0001197 |
| Label | Severe Congenital Neutropenia 3 |
- 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)