Metadata | |
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ID | DOID:0061090 |
Name | severe combined immunodeficiency 124 |
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. https://pubmed.ncbi.nlm.nih.gov/37703920/ |
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Parent Relationships | |
Subclass Logical Relationships |
existence starts during some (Infantile onset or Childhood onset) has material basis in some autosomal recessive inheritance |