Immunodeficiency 20
Disease ID: disease_node_20449
Connections displayed (default: 10).
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| Dbxref | MIM:615707, ORDO:437552 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | CD16 deficiency, IMD20, autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
| Doid Label | immunodeficiency 20 |
| Doid Description | A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20449 |
| Doid Id | DOID_0111941 |
| Label | Immunodeficiency 20 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)