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Metadata
ID DOID:0060302
Name type II complement component 8 deficiency
Definition 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.
https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency
Xrefs

ICD10CM:D84.1

OMIM:613789

ORDO:169150

Subsets

DO_rare_slim

Parent Relationships

is_a complement deficiency

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