Type Ii Complement Component 8 Deficiency
Disease ID: disease_node_20439
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| Dbxref | ICD10CM:D84.1, MIM:613789, ORDO:169150 |
|---|---|
| Subclassof | DOID_626 |
| Data Source | DOID |
| Doid Label | type II complement component 8 deficiency |
| Doid 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. NT MGI. |
| Disease Node Id | disease_node_20439 |
| Doid Id | DOID_0060302 |
| Label | Type Ii Complement Component 8 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Hereditary Complement Deficiency Diseases(ID:disease_node_529) (Disease)