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DO Term : type II complement component 8 deficiency [DOID:0060302] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.
  • synonyms:
  • ORDO:169150,
  • 613789,
  • OMIM:613789,
  • ICD10CM:D84.1
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents