Immunodeficiency 44
Disease ID: disease_node_20444
Connections displayed (default: 10).
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| Dbxref | MIM:616636 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD44 |
| Doid Label | immunodeficiency 44 |
| Doid Description | A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20444 |
| Doid Id | DOID_0111975 |
| Label | Immunodeficiency 44 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease)