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DOID:0111979 - immunodeficiency 49
Disease Ontology Definition:A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.
Synonyms: IMD49, SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities, severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities,
Xenbase Genes
:
bcl11b
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee