complement component 3 deficiency

Term ID

DOID:8354

Synonyms

• 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. https://www.omim.org/entry/613779

References

• NCI:C9468
• OMIM:613779
• ORDO:280133
• SNOMEDCT_US_2023_03_01:771443008
• UMLS_CUI:C1332655

Ontology

Human Disease   ( DOID:8354 )