Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Hemolytic Anemia due to Adenylate Kinase Deficiency
go back to main search page
Accession:DOID:9005319 term browser browse the term
Synonyms:primary_id: MESH:C567228
 alt_id: OMIM:612631
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hemolytic Anemia due to Adenylate Kinase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by OMIM:612631
ClinVar Annotator: match by term: Adenylate kinase deficiency, hemolytic anemia due to
OMIM
ClinVar
PMID:2542324, PMID:9432020, PMID:10233365, PMID:12649162, PMID:15315793, PMID:24033266, PMID:28492532 NCBI chr 3:11,652,143...11,659,135 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        anemia 417
          hemolytic anemia 182
            Hemolytic Anemia due to Adenylate Kinase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          anemia 417
            normocytic anemia 182
              hemolytic anemia 182
                Hemolytic Anemia due to Adenylate Kinase Deficiency 1
paths to the root

NHLBI Logo

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