Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
Preferred Name

Variant Sickle Cell Syndrome

Synonyms

Sickle Cell Disease Variant

SCD Variant

Variant Sickle Cell Syndromes

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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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).

definition source

http://www.uptodate.com/contents/overview-of-variant-sickle-cell-syndromes

diagnosed using tool

http://purl.obolibrary.org/obo/NCIT_C79903

http://purl.obolibrary.org/obo/NCIT_C15709

http://purl.obolibrary.org/obo/SCDO_0000547

existence in other ontologies

None

hasExactSynonym

Sickle Cell Disease Variant

SCD Variant

Variant Sickle Cell Syndromes

prefixIRI

SCDO:0001051

prefLabel

Variant Sickle Cell Syndrome

rdfs:label

Variant Sickle Cell Syndrome

subClassOf

http://purl.obolibrary.org/obo/SCDO_1000106

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