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DO Term : immunodeficiency 71 [DOID:0112004] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1.
  • synonyms:
  • IMD71,
  • PLTEID,
  • 617718,
  • platelet abnormalities with eosinophilia and immune-mediated inflammatory disease,
  • OMIM:617718,
  • immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents