Term Name: | severe combined immunodeficiency 124 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0061090] ( DOID:0061090 ) |