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Metadata
ID DOID:0061090
Name severe combined immunodeficiency 124
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.
https://pubmed.ncbi.nlm.nih.gov/37703920/
Xrefs

MIM:611291

Parent Relationships

is_a severe combined immunodeficiency

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some (Infantile onset or Childhood onset)

has material basis in some autosomal recessive inheritance

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