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DO Term : immunodeficiency 61 [DOID:0111999] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.
  • synonyms:
  • 300310,
  • OMIM:300310,
  • MESH:C538057,
  • UMLS_CUI:C1845903,
  • IMD61
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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