Send us a Message



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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:paroxysmal nocturnal hemoglobinuria
go back to main search page
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;   ICD10CM:D59.5;   ICD10CM:D59.6;   NCI:C61233;   OMIM:PS300818;   ORDO:447
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar
PMID:24521109 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD Direct Evidence: marker/mechanism
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by OMIM:300818
OMIM
ClinVar
CTD
RGD
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... RGD:11087560 NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD
ClinVar
PMID:25417052 PMID:25741868 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by OMIM:615399
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
OMIM
ClinVar
PMID:23733340 PMID:25741868 PMID:28492532 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      myelodysplastic syndrome 236
        paroxysmal nocturnal hemoglobinuria 7
          Paroxysmal Nocturnal Hemoglobinuria 2 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Hemic and Lymphatic Diseases 2396
        hematopoietic system disease 1971
          anemia 448
            normocytic anemia 205
              hemolytic anemia 205
                hemoglobinuria 8
                  paroxysmal nocturnal hemoglobinuria 7
                    Paroxysmal Nocturnal Hemoglobinuria 2 1
paths to the root