Visualize Submit Comment
Metadata
ID DOID:0111942
Name immunodeficiency 25
Definition A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2.
https://pubmed.ncbi.nlm.nih.gov/16672702/
Xrefs

MESH:C565712

OMIM:610163

UMLS_CUI:C1857798

Synonyms

IMD25 [EXACT]

immunodeficiency due to defect in CD3-zeta [EXACT]

Parent Relationships

is_a T cell deficiency

is_a autosomal recessive disease

Add an item to the term tracker