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ONTOLOGY REPORT - ANNOTATIONS


Term:paroxysmal nocturnal hemoglobinuria
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Accession:DOID:0060284 term browser browse the term
Definition:A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins.
Synonyms:exact_synonym: Cold Paroxysmal Hemoglobinuria;   Hemoglobinuria, Paroxysmal;   Marchiafava Micheli Syndrome;   PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1;   PNH1
 related_synonym: ECULIZUMAB, POOR RESPONSE TO
 primary_id: MESH:D006457
 alt_id: OMIM:300818;   OMIM:615749;   RDO:0002195
 xref: GARD:7337;   NCI:C61233;   OMIM:PS300818;   ORDO:447
For additional species annotation, visit the Alliance of Genome Resources.


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paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11040769
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:7240710
RGD:8554872
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352266
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11087560
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:11554173
RGD:8554872
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041765
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041765
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mysm1 myb-like, SWIRM and MPN domains 1 JBrowse link 5 113,902,115 113,939,083 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:11554173
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:11554173
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:11554173
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      myelodysplastic syndrome 113
        paroxysmal nocturnal hemoglobinuria 17
          Bone Marrow Failure Syndromes + 10
          Paroxysmal Nocturnal Hemoglobinuria 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          anemia 376
            normocytic anemia 175
              hemolytic anemia 175
                hemoglobinuria 18
                  paroxysmal nocturnal hemoglobinuria 17
                    Bone Marrow Failure Syndromes + 10
                    Paroxysmal Nocturnal Hemoglobinuria 2 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.