Sickle Cell Disease Ontology Project

Hemoglobin C Disease

http://scdontology.h3abionet.org/ontology/SCDO_0000519

An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.

Term info

database cross reference
  • DOID:2859
  • NCIT:C34675
curator note

Suggest update to description in NCIT

database cross reference

NCIT:C34675, DOID:2859

definition source

http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C34675, http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-C

existence in other ontologies

Suggest update to description

Haemoglobin C Disease, Hb C-Disease