|OBO ID: DOID:0111938|
|Term Name:||immunodeficiency 24||Search Ontology:|
|Definition:||A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2. https://pubmed.ncbi.nlm.nih.gov/24870241/|
|Ontology:||Human Disease (DOID:0111938)|
|is a type of:||
OTHER immunodeficiency 24 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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