FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term severe combined immunodeficiency 124 ID (Ontology) DOID:0061090 (Human Disease)
Definition A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35.
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
                                      severe combined immunodeficiency 124
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Is a autosomal recessive disease
severe combined immunodeficiency
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MIM:611291