Search Ontology:
Human Disease

immunodeficiency 13

Term ID
DOID:0111987
Synonyms
  • ICL
  • idiopathic CD4 lymphopenia
  • IMD13
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/
References
  • GARD:12375
  • MIM:615518
  • ORDO:228000
  • UMLS_CUI:C3809768
Ontology
Human Disease   ( DOID:0111987 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models