Severe Congenital Neutropenia 4
Disease ID: disease_node_18056
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| Dbxref | MIM:612541, ORDO:331176 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050590 |
| Data Source | DOID |
| Synonyms | Dursun syndrome, SCN4, autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome |
| Doid Label | severe congenital neutropenia 4 |
| Doid Description | A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18056 |
| Doid Id | DOID_0112136 |
| Disease Has Basis In | HP_0001197 |
| Label | Severe Congenital Neutropenia 4 |
- 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)