| 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 |
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| Subsets |
DO_rare_slim |
| Parent Relationships |