Search Ontology:
Human Disease
immunodeficiency 44
- Term ID
- DOID:0111975
- Synonyms
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- IMD44
- Definition
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0111975 )
- is a type of
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