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DO Term : immunodeficiency 49 [DOID:0111979] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:617237,
  • 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,
  • 617237,
  • UMLS_CUI:C4310656,
  • IMD49
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Ontology Term --> Direct parents