Metadata | |
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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/ |
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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 |