Sickle Cell Disease Ontology Project

Sickle Cell Disease-SS

http://scdontology.h3abionet.org/ontology/SCDO_0000549

A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles.

Term info

database cross reference
  • MESH:D000755
  • NCIT:C131682
  • DOID:10923
database cross reference

NCIT:C131682, DOID:10923, MESH:D000755

definition source

http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C131682

SCA, Sickle Cell Anemia, Homozygous Sickle Cell Disease, Sickle Cell-SS Disease, SS and S/Beta-Zero Thalassemia, Sickle Cell Hemoglobin S Disease, Hb SS-Disease, Hb SS Disease, Hemoglobin SS Disease, Severe SCD, Sickle Cell Disease SS

hasRelatedSynonym

Banana Cell Disease