Search Ontology:
Human Disease

severe combined immunodeficiency 124

Term ID
DOID:0061090
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. https://pubmed.ncbi.nlm.nih.gov/37703920/
References
Ontology
Human Disease   ( DOID:0061090 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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