Visualize Submit Comment
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 UNC119 on chromosome 17q11.2.
https://pubmed.ncbi.nlm.nih.gov/22184408/
Xrefs

GARD:12375

OMIM:615518

ORDO:228000

UMLS_CUI:C3809768

Synonyms

ICL [EXACT]

idiopathic CD4 lymphopenia [EXACT]

IMD13 [EXACT]

Parent Relationships

is_a T cell deficiency

is_a autosomal dominant disease

Add an item to the term tracker