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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:CD59 Deficiency
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Accession:DOID:9001643 term browser browse the term
Synonyms:exact_synonym: HACD59;   HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY
 primary_id: MESH:C567355;   RDO:0015446
 alt_id: OMIM:612300
For additional species annotation, visit the Alliance of Genome Resources.


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CD59 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule ISO ClinVar Annotator: match by OMIM:612300
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cd59 deficiency
OMIM
ClinVar
PMID:1382994, PMID:23149847, PMID:24382084, PMID:25741868 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      hematopoietic system disease 1655
        anemia 418
          hemolytic anemia 183
            CD59 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 2069
        hematopoietic system disease 1655
          anemia 418
            normocytic anemia 183
              hemolytic anemia 183
                hemoglobinuria 8
                  CD59 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.