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Metadata
ID	DOID:0111971
Name	immunodeficiency 18
Definition	A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. https://pubmed.ncbi.nlm.nih.gov/8490660/, https://pubmed.ncbi.nlm.nih.gov/15546002/
Xrefs	MIM:615615
Synonyms	CD3-epsilon deficiency [EXACT] IMD18 [EXACT]
Parent Relationships	is_a primary immunodeficiency disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance