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:Heinz body anemia
go back to main search page
Accession:DOID:0111363 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. (DO)
Synonyms:exact_synonym: Heinz Body Anemias;   Heinz Body Hemolytic Anemia;   Hemoglobin Tacoma
 primary_id: MESH:C563030
 alt_id: OMIM:140700
 xref: GARD:10718
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by OMIM:140700
ClinVar Annotator: match by term: Heinz body anemias
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2833478 PMID:5639009 PMID:7558871 PMID:25741868 NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Heinz body anemia OMIM
ClinVar
PMID:5639009 PMID:7558871 PMID:25741868 NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:186485 More... RGD:1600889 NCBI chr 1:158,250,421...158,251,832 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      congenital hemolytic anemia 155
        congenital nonspherocytic hemolytic anemia 14
          Heinz body anemia 4
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1908
          anemia 429
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 155
                  congenital nonspherocytic hemolytic anemia 14
                    Heinz body anemia 4
paths to the root