OBO ID: DOID:0060302
Term Name: type II complement component 8 deficiency Search Ontology:
Synonyms:
Definition: 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. https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency
References:
Ontology: Human Disease   ( DOID:0060302 )
Relationships
is a type of:
OTHER type II complement component 8 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
C8B C8 deficiency, type II 613789
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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