| Metadata | |
|---|---|
| ID | DOID:0111987 |
| Name | immunodeficiency 13 |
| Definition | A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. https://pubmed.ncbi.nlm.nih.gov/22184408/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ICL [EXACT] idiopathic CD4 lymphopenia [EXACT] IMD13 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a T cell deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |