Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
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Id http://purl.obolibrary.org/obo/SCDO_1000106
http://purl.obolibrary.org/obo/SCDO_1000106
Preferred Name

Sickle Cell Disease
Definitions
Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or compound heterozygosity for the sickle gene and either another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations.
Synonyms
Sickle-Cell Disorder
Banana Cell Disease
Sickle Hemoglobinopathy
Sickle Cell Disorder
Drepanocytosis
Sickle Cell Hemoglobinopathy
SCD
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or compound heterozygosity for the sickle gene and either another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations.
skos:prefLabel
Sickle Cell Disease
rdfs:label
Sickle Cell Disease
prefLabel
Sickle Cell Disease
has clinical code
definition source
prefixIRI
SCDO:1000106
subClassOf
curator note
Suggest update to description in NCIT. Sickle cell diseases include inheritance of the gene for sickle hemoglobin from one parent and one of the following: A gene for sickle hemoglobin from the other parent (Hb SS), A gene for another abnormal hemoglobin from the other parent (Hb SC, HbSD Punjab, HbSO Arab, HbS Leopore, or Hb SE), A gene that limits hemoglobin production from the other parent (sickle beta +/0 thalassemia). In S beta (+) thalassemia there is some production of beta globin, and in S beta (0) thalassemia there is no production of beta globin.
type
existence in other ontologies
Few but definitions not specific enough
has causal or contributing genetic variation
hasExactSynonym
Sickle-Cell Disorder
Banana Cell Disease
Sickle Hemoglobinopathy
Sickle Cell Disorder
Drepanocytosis
Sickle Cell Hemoglobinopathy
SCD
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