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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:Heinz body anemia
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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 the HBA1, HBA2 or HBB genes 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heinz body anemia		 OMIM
CTD
ClinVar		 PMID:1686260 PMID:1787098 PMID:2833478 PMID:3384694 PMID:5639009 More... NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heinz body anemia		 OMIM
CTD
ClinVar		 PMID:1281602 PMID:1581238 PMID:1686260 PMID:1726096 PMID:1787098 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia		 OMIM
CTD
ClinVar
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:186485 PMID:711920 More... RGD:1600889 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hemolytic anemia 347
        congenital nonspherocytic hemolytic anemia 71
          Heinz body anemia 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          anemia 782
            normocytic anemia 675
              hemolytic anemia 417
                congenital hemolytic anemia 347
                  congenital nonspherocytic hemolytic anemia 71
                    Heinz body anemia 4
paths to the root