Term Name: severe combined immunodeficiency 124
Synonyms:
Definition: A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35.
Ontology: Human Disease [DOID:0061090]   ( DOID:0061090 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency