preferred_name: immunodeficiency 49
preferred_name_lc: immunodeficiency 49
label: severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
label_lc: severe combined immunodeficiency, t-cell negative, b-cell positive, nk cell positive, with intellectual disability, spasticity, and craniofacial abnormalities