Search Ontology:
Human Disease
type I complement component 8 deficiency
- Term ID
- DOID:0060301
- Synonyms
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- 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
- References
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- ICD10CM:D84.1
- MIM:613790
- ORDO:169150
- Ontology
- Human Disease ( DOID:0060301 )
- is a type of
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Zebrafish Models