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Sickle Cell Disease Ontology
Last uploaded:
May 6, 2021
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| Preferred Name | Beta Zero Thalassemia | |
| Synonyms |
Beta 0 Thalassemia Beta Zero-Thalassemia Beta-Zero-Thalassemia Hb Beta Zero-Thalassemia Beta0 Thalassemia Hb F only |
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| Definitions |
Beta-zero thalassemia is a form of beta-thalassemia in which beta-globin chain synthesis is absent. The clinical phenotype is often that of transfusion-dependant beta thalassemia major, however modifying factors may ameliorate the symptoms of severe anemia (Cao & Gallanelo, 2010). |
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| ID |
http://purl.obolibrary.org/obo/SCDO_0000115 |
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| curator note |
Request inclusion into relevant ontology, perhaps DOID.
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| definition |
Beta-zero thalassemia is a form of beta-thalassemia in which beta-globin chain synthesis is absent. The clinical phenotype is often that of transfusion-dependant beta thalassemia major, however modifying factors may ameliorate the symptoms of severe anemia (Cao & Gallanelo, 2010).
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| definition source |
A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed
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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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| has mode of inheritance | ||
| hasExactSynonym |
Beta 0 Thalassemia Beta Zero-Thalassemia Beta-Zero-Thalassemia Hb Beta Zero-Thalassemia Beta0 Thalassemia Hb F only
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| prefixIRI |
SCDO:0000115
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| prefLabel |
Beta Zero Thalassemia
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| rdfs:label |
Beta Zero Thalassemia
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| skos:prefLabel |
Beta Zero Thalassemia
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| treated with | ||
| subClassOf |
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| Delete | Subject | Author | Type | Created |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/SNOMEDCT/86715000 | SNOMEDCT | LOOM |