|OBO ID: DOID:0111993|
|Term Name:||immunodeficiency 55||Search Ontology:|
|Definition:||A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21. https://pubmed.ncbi.nlm.nih.gov/28414293/|
|Ontology:||Human Disease (DOID:0111993)|
|is a type of:||
OTHER immunodeficiency 55 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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