| Metadata | |
|---|---|
| ID | DOID:8158 |
| Name | complement component 5 deficiency |
| Definition | A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. http://omim.org/entry/609536, https://ghr.nlm.nih.gov/gene/C5 |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
C5 deficiency [EXACT] |
| Parent Relationships |