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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:autosomal dominant beta thalassemia
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Accession:DOID:0080770 term browser browse the term
Definition:A beta thalassemia that has material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. (DO)
Synonyms:exact_synonym: beta thalassemia, dominant inclusion body type;   congenital dyserythropoietic anemia, Irish or Weatherall type;   inclusion body beta-thalassemia
 primary_id: MESH:C565834
 alt_id: OMIM:603902
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant beta thalassemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by OMIM:603902
ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type
ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
OMIM
ClinVar
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:700140 More... 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 17251
    physical disorder 3093
      congenital hemolytic anemia 156
        thalassemia 90
          beta thalassemia 35
            autosomal dominant beta thalassemia 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          anemia 431
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  hemoglobinopathy 121
                    thalassemia 90
                      beta thalassemia 35
                        autosomal dominant beta thalassemia 1
paths to the root