complement deficiency

Term ID

DOID:626

Synonyms

Complement deficiency disease

Definition

A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. http://en.wikipedia.org/wiki/Complement_deficiency

References

ICD10CM:D84.1
MESH:D000081208
NCI:C4691
SNOMEDCT_US_2023_03_01:191014008
UMLS_CUI:C0272242

Ontology

Human Disease ( DOID:626 )

Relationships

is a type of: primary immunodeficiency disease

primary immunodeficiency disease Show first 5 Terms
has subtype: atypical hemolytic-uremic syndrome C1 inhibitor deficiency complement component 2 deficiency complement component 3 deficiency complement component 4a deficiency ... Show All 14 Terms

atypical hemolytic-uremic syndrome C1 inhibitor deficiency complement component 2 deficiency complement component 3 deficiency 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 factor I deficiency type I complement component 8 deficiency type II complement component 8 deficiency X-linked properdin deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations