loading...| Preferred Name |
Sickle Cell Disease |
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| Synonyms |
Sickle-Cell Disorder Banana Cell Disease Sickle Hemoglobinopathy Sickle Cell Disorder Drepanocytosis Sickle Cell Hemoglobinopathy SCD |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/SCDO_1000106 |
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| 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. |
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| dc:source | ||
| 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. |
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| definition source | ||
| existence in other ontologies |
Few but definitions not specific enough |
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| has causal or contributing genetic variation | ||
| has clinical code | ||
| hasExactSynonym |
Sickle-Cell Disorder Banana Cell Disease Sickle Hemoglobinopathy Sickle Cell Disorder Drepanocytosis Sickle Cell Hemoglobinopathy SCD |
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| prefixIRI |
SCDO:1000106 |
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| prefLabel |
Sickle Cell Disease |
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| rdfs:label |
Sickle Cell Disease |
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| skos:prefLabel |
Sickle Cell Disease |
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| subClassOf |