complement component 3 deficiency

Summary
Synonym
  • C3 deficiency
Definition
A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.
Super Class
complement deficiency
Disease Ontology
DOID:8354
Mondo Disease Ontology
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
718 C3 complement C3
Displaying 1 entry
Gene ID Gene Symbol Description Source
12266 C3 complement component 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
24232 C3 complement C3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024