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ONTOLOGY REPORT - ANNOTATIONS


Term:atypical hemolytic-uremic syndrome
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Accession:DOID:0080301 term browser browse the term
Definition:An hereditary hemolytic uremic syndrome associated with variations in the gene that encodes COMPLEMENT FACTOR H, or the related proteins CFHR1 and CFHR3. Disease often progresses to CHRONIC KIDNEY FAILURE without the prodromal symptoms of ENTEROCOLITIS and DIARRHEA that characterize typical hemolytic uremic syndrome.
Synonyms:exact_synonym: AHUS, SUSCEPTIBILITY TO, 2;   AHUS, SUSCEPTIBILITY TO, 3;   AHUS, SUSCEPTIBILITY TO, 4;   AHUS, SUSCEPTIBILITY TO, 5;   AHUS, SUSCEPTIBILITY TO, 6;   AHUS1;   AHUS2;   AHUS3;   AHUS4;   AHUS5;   AHUS6;   Atypical Hemolytic-Uremic Syndromes;   HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1;   HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2;   HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3;   HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4;   HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5;   HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6;   Hemolytic Uremic Syndrome, Atypical, Susceptibility To;   Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7;   Non Shiga Like Toxin Associated HUS;   Non Stx Hus;   Non-Shiga-Like Toxin-Associated HUSs;   Nonenteropathic HUS;   Nonenteropathic HUSs
 narrow_synonym: AHUS, SUSCEPTIBILITY TO, 1 HEMOLYTIC UREMIC SYNDROME, TYPICAL
 primary_id: MESH:D065766
 alt_id: DOID:9007987;   OMIA:000636;   OMIM:235400;   OMIM:612922;   OMIM:612923;   OMIM:612924;   OMIM:612925;   OMIM:612926;   RDO:0004224;   RDO:0015985
 xref: GARD:8702
For additional species annotation, visit the Alliance of Genome Resources.


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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:11554173
RGD:7240710
RGD:8554872
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:7240710
RGD:11554173
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:8554872
RGD:7240710
RGD:11554173
RGD:11038691
RGD:11038684

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      hemolytic-uremic syndrome 29
        atypical hemolytic-uremic syndrome 13
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Hemic and Lymphatic Diseases 1704
        hematopoietic system disease 1426
          blood coagulation disease 444
            hemorrhagic disease 430
              blood platelet disease 191
                thrombocytopenia 129
                  Thrombotic Microangiopathies 67
                    hemolytic-uremic syndrome 29
                      atypical hemolytic-uremic syndrome 13
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.