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Ontology Browser

Term:
type II complement component 8 deficiency (DOID:0060302)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
arthus reaction  
atypical hemolytic-uremic syndrome  
C1 inhibitor deficiency +   
complement component 2 deficiency  
complement component 3 deficiency  
Complement Component 4, Partial Deficiency Of  
complement component 4A deficiency  
complement component 4B deficiency  
complement component 5 deficiency  
complement component 6 deficiency  
complement component 7 deficiency  
complement component 9 deficiency  
Complement Component C1r/C1s Deficiency +   
Complement Factor B Deficiency  
Complement Factor D Deficiency  
complement factor I deficiency  
hypersensitivity vasculitis +   
Serum Sickness  
type I complement component 8 deficiency  
type II complement component 8 deficiency  
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. (DO)
X-linked properdin deficiency  

Synonyms
Exact Synonyms: C8 BETA DEFICIENCY ;   C8 deficiency type II ;   C8B DEFICIENCY ;   C8D2 ;   COMPLEMENT COMPONENT 8B DEFICIENCY
Primary IDs: OMIM:613789
Definition Sources: https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO" "DO"

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