| Metadata | |
|---|---|
| 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/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some (Infantile onset or Childhood onset) has material basis in some autosomal recessive inheritance |