| Metadata | |
|---|---|
| ID | DOID:0061095 |
| Name | immunodeficiency 130 |
| Definition | A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/39352394/ |
| Xrefs | |
| Synonyms |
immunodeficiency 130 with HPV-related verrucosis [EXACT] |
| Parent Relationships |
is_a T cell deficiency is_a autosomal recessive disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has location some zone of skin existence starts during some (Young adult onset or Pediatric onset) |