| Metadata | |
|---|---|
| ID | DOID:0061066 |
| Name | immunodeficiency 96 |
| Definition | A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/30395541/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some (Infantile onset or Childhood onset) has material basis in some autosomal recessive inheritance |