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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:Hemoglobin SC Disease
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Accession:DOID:9006672 term browser browse the term
Definition:One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
Synonyms:exact_synonym: Hb SC disease;   Hb-S/Hb-C disease;   SC disease;   SC diseases;   hemoglobin SC diseases;   sickle cell hemoglobin C disease
 primary_id: MESH:D006450
 xref: EFO:1001797



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Hemoglobin SC Disease 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 term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hemolytic anemia 348
        sickle cell anemia 45
          Hemoglobin SC Disease 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3850
        hematopoietic system disease 3340
          anemia 783
            normocytic anemia 676
              hemolytic anemia 418
                congenital hemolytic anemia 348
                  hemoglobinopathy 242
                    sickle cell anemia 45
                      Hemoglobin SC Disease 1
paths to the root