_:vb50955280 . "ataxia-telangiectasia variant"@en . "Microcephaly, normal intelligence and immunodeficiency"@en . _:vb50955280 . "MESH:D049932"^^ . "Seemanova syndrome type 2"@en . "Seemanova syndrome II"@en . "microcephaly-immunodeficiency-lymphoreticuloma syndrome"@en . . "UMLS_CUI:C0398791"^^ . "GARD:3904"^^ . _:vb50955280 . _:vb50955280 . "SNOMEDCT_US_2021_09_01:234638009"^^ . "OMIM mapping confirmed by DO. [SN]."^^ . _:vb50955280 . "DOID:7400"^^ . . . "ORDO:647"^^ . "NBS"@en . "NCI:C4692"^^ . "immunodeficiency-microcephaly-chromosomal instability syndrome"@en . "disease_ontology"^^ . "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3."^^ . "Nijmegen breakage syndrome"^^ . . . "Berlin breakage syndrome"@en . "OMIM:251260"^^ .