Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
complement component 3 deficiency (DOID:8354)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
atypical hemolytic-uremic syndrome  
C1 inhibitor deficiency +   
complement component 2 deficiency  
complement component 3 deficiency  
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. (DO)
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  
type I complement component 8 deficiency  
type II complement component 8 deficiency  

Synonyms
Exact Synonyms: C3 Deficiency ;   C3 Deficiency, Autosomal Recessive ;   C3D ;   Complement Component 3 Deficiency, Autosomal Recessive
Primary IDs: MESH:C565169 ;   RDO:0013892
Alternate IDs: OMIA:000155 ;   OMIM:613779
Xrefs: NCI:C9468 ;   ORDO:280133
Definition Sources: https://www.omim.org/entry/613779

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.