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ONTOLOGY REPORT - ANNOTATIONS


Term:complement deficiency
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Accession:DOID:626 term browser browse the term
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. (DO)
Synonyms:exact_synonym: complement deficiency disease
 narrow_synonym: immunodeficiency due to a late component of complement deficiency
 primary_id: RDO:9004121
 xref: ICD10CM:D80-D89;   NCI:C4691
For additional species annotation, visit the Alliance of Genome Resources.


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complement deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:8554872
G C6 complement C6 JBrowse link 2 54,460,333 54,533,801 RGD:8554872
atypical hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:10449096
G Baat bile acid CoA:amino acid N-acyltransferase JBrowse link 5 64,768,397 64,777,368 RGD:8554872
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:8554872
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7364995
RGD:8554872
RGD:11554173
RGD:7240710
RGD:11040768
G C3ar1 complement C3a receptor 1 JBrowse link 4 155,681,767 155,691,240 RGD:8554872
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:8554872
RGD:7240710
RGD:11554173
RGD:11352810
RGD:11040768
RGD:11352768
RGD:11038684
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7242707
RGD:7240710
RGD:8554872
RGD:11554173
RGD:11040768
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:1599886
RGD:8554872
RGD:7240710
RGD:11554173
RGD:11041172
RGD:11041162
RGD:11040768
RGD:7364995
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:8554872
RGD:11554173
RGD:7240710
RGD:11041162
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:6906889
RGD:8554872
RGD:11554173
RGD:7240710
G Dgke diacylglycerol kinase epsilon JBrowse link 10 76,375,981 76,408,224 RGD:8554872
RGD:11554173
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:8554872
RGD:11554173
RGD:7240710
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:8554872
RGD:7240710
RGD:11554173
RGD:11038691
RGD:11038684
C1 inhibitor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
complement component 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:7240710
RGD:8554872
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:8554872
complement component 3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7240710
RGD:8554872
Complement Component 4, Partial Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serping1 serpin family G member 1 JBrowse link 3 72,161,230 72,171,109 RGD:7240710
RGD:8554872
complement component 4A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C4a complement C4A JBrowse link 20 2,651,599 2,678,183 RGD:7240710
RGD:8554872
complement component 4B deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C4b complement C4B (Chido blood group) JBrowse link 20 4,302,344 4,316,752 RGD:7240710
complement component 5 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:7240710
RGD:8554872
complement component 6 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C6 complement C6 JBrowse link 2 54,460,333 54,533,801 RGD:7240710
RGD:8554872
G C8b complement C8 beta chain JBrowse link 5 124,298,269 124,338,055 RGD:8554872
complement component 7 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C7 complement C7 JBrowse link 2 54,707,621 54,781,624 RGD:7240710
RGD:8554872
complement component 9 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:7240710
RGD:8554872
Complement Component C1s Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
RGD:7240710
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:8554872
Complement Factor B Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:8554872
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7240710
RGD:8554872
Complement Factor D Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfd complement factor D JBrowse link 7 12,634,216 12,635,939 RGD:7240710
RGD:8554872
complement factor I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:7240710
Hereditary Angioedema Types I and II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:11554173
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G Plg plasminogen JBrowse link 1 48,521,828 48,563,895 RGD:8554872
G Serping1 serpin family G member 1 JBrowse link 3 72,161,230 72,171,109 RGD:8554872
RGD:7240710
RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
type I complement component 8 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C8a complement C8 alpha chain JBrowse link 5 124,348,536 124,403,117 RGD:7240710
RGD:8554872
type II complement component 8 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C8b complement C8 beta chain JBrowse link 5 124,298,269 124,338,055 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      primary immunodeficiency disease 983
        complement deficiency 28
          C1 inhibitor deficiency + 5
          Complement Component 4, Partial Deficiency Of 1
          Complement Component C1r/C1s Deficiency + 2
          Complement Factor B Deficiency 2
          Complement Factor D Deficiency 1
          atypical hemolytic-uremic syndrome 13
          complement component 2 deficiency 2
          complement component 3 deficiency 1
          complement component 4A deficiency 1
          complement component 4B deficiency 1
          complement component 5 deficiency 1
          complement component 6 deficiency 2
          complement component 7 deficiency 1
          complement component 9 deficiency 1
          complement factor I deficiency 1
          type I complement component 8 deficiency 1
          type II complement component 8 deficiency 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Immune & Inflammatory Diseases 3138
        immune system disease 2553
          primary immunodeficiency disease 983
            complement deficiency 28
              C1 inhibitor deficiency + 5
              Complement Component 4, Partial Deficiency Of 1
              Complement Component C1r/C1s Deficiency + 2
              Complement Factor B Deficiency 2
              Complement Factor D Deficiency 1
              atypical hemolytic-uremic syndrome 13
              complement component 2 deficiency 2
              complement component 3 deficiency 1
              complement component 4A deficiency 1
              complement component 4B deficiency 1
              complement component 5 deficiency 1
              complement component 6 deficiency 2
              complement component 7 deficiency 1
              complement component 9 deficiency 1
              complement factor I deficiency 1
              type I complement component 8 deficiency 1
              type II complement component 8 deficiency 1
paths to the root

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