loading...| Preferred Name | Beta Thalassemia | |
| Synonyms |
Beta-Thalassemia Beta-Thalassemias Mediterranean Anemia Hemoglobin F Disease Beta Thalassemias Beta Type Thalassemia |
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| Definitions |
A hemoglobinopathy characterized by the reduced (beta plus) or absent (beta zero) synthesis of the beta globin chains of hemoglobin, resulting in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. |
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| ID |
http://purl.obolibrary.org/obo/SCDO_0000111 |
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| curator note |
Suggest update to description in DOID. Include a "Dominant Beta-Thalassemia" sub-class? (see Orphanet) |
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| database cross reference |
DOID:12241 |
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| definition |
A hemoglobinopathy characterized by the reduced (beta plus) or absent (beta zero) synthesis of the beta globin chains of hemoglobin, resulting in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. |
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| definition source |
http://purl.obolibrary.org/obo/DOID_12241 A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed http://en.wikipedia.org/wiki/Beta_thalassemia Origa R. Beta-Thalassemia. 2000 Sep 28 [Updated 2018 Jan 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1426/ |
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| existence in other ontologies |
Suggest update to description |
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| has mode of inheritance | ||
| hasExactSynonym |
Beta-Thalassemia Beta-Thalassemias Mediterranean Anemia Hemoglobin F Disease Beta Thalassemias Beta Type Thalassemia |
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| in guideline |
http://purl.obolibrary.org/obo/SCDO_1000150 http://purl.obolibrary.org/obo/SCDO_1000151 http://purl.obolibrary.org/obo/SCDO_1000153 http://purl.obolibrary.org/obo/SCDO_1000152 http://purl.obolibrary.org/obo/SCDO_1000144 http://purl.obolibrary.org/obo/SCDO_1000149 http://purl.obolibrary.org/obo/SCDO_1000148 |
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| prefixIRI |
SCDO:0000111 |
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| prefLabel |
Beta Thalassemia |
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| rdfs:label |
Beta Thalassemia |
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| skos:prefLabel |
Beta Thalassemia |
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| subClassOf |