type II complement component 8 deficiency
Information
- Disease name
- type II complement component 8 deficiency
- Disease ID
- DOID:0060302
- 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." [url:https\://ghr.nlm.nih.gov/condition/complement-component-8-deficiency]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:626
- Cross Reference ID (Disease Ontology)
- ICD10CM:D84.1
- Cross Reference ID (Disease Ontology)
- MIM:613789
- Cross Reference ID (Disease Ontology)
- ORDO:169150