Severe Congenital Neutropenia 7
Disease ID: disease_node_18055
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| Dbxref | MIM:617014, ORDO:420702 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050590 |
| Data Source | DOID |
| Synonyms | SCN7, autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| Doid Label | severe congenital neutropenia 7 |
| Doid Description | A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18055 |
| Doid Id | DOID_0112129 |
| Disease Has Basis In | HP_0001197 |
| Label | Severe Congenital Neutropenia 7 |
- 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)