| Metadata | |
|---|---|
| ID | DOID:0060301 |
| Name | type I complement component 8 deficiency |
| Definition | A complement deficiency that is characterized by deficiency of the alpha 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 C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |