Preferred Name |
Variant Sickle Cell Syndrome |
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Synonyms |
Sickle Cell Disease Variant SCD Variant Variant Sickle Cell Syndromes |
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Definitions |
A variant form of sickle cell disease that results from inheriting the sickle mutation in combination with another beta-globin gene mutation. These hemoglobinopathies may have different clinical severity compared to the homozygous form of sickle cell disease (HbSS). |
|
ID |
http://purl.obolibrary.org/obo/SCDO_0001051 |
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curator note |
Request inclusion into relevant ontology |
|
definition |
A variant form of sickle cell disease that results from inheriting the sickle mutation in combination with another beta-globin gene mutation. These hemoglobinopathies may have different clinical severity compared to the homozygous form of sickle cell disease (HbSS). |
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definition source |
http://www.uptodate.com/contents/overview-of-variant-sickle-cell-syndromes |
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diagnosed using tool |
http://purl.obolibrary.org/obo/NCIT_C79903 |
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existence in other ontologies |
None |
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hasExactSynonym |
Sickle Cell Disease Variant SCD Variant Variant Sickle Cell Syndromes |
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prefixIRI |
SCDO:0001051 |
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prefLabel |
Variant Sickle Cell Syndrome |
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rdfs:label |
Variant Sickle Cell Syndrome |
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subClassOf |