Preferred Name | Beta-thalassemia | |
Synonyms |
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Definitions |
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). |
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ID |
http://www.orpha.net/ORDO/Orphanet_848 |
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definition |
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). |
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definition_citation |
Orphanet |
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expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=848 |
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has_age_of_onset |
Childhood Infancy |
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has_inheritance |
Autosomal recessive Autosomal dominant |
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hasDbXref |
MeSH:D017086 ICD-11:3A50.2 ICD-10:D56.1 OMIM:613985 MedDRA:10043391 OMIM:603902 UMLS:C0005283 |
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label |
Beta-thalassemia |
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notation |
ORPHA:848 |
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part_of |
http://www.orpha.net/ORDO/Orphanet_93614 |
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prefixIRI |
ORDO:Orphanet_848 |
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prefLabel |
Beta-thalassemia |
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present_in |
France AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000 |
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treeView |
http://www.orpha.net/ORDO/Orphanet_93614 |
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subClassOf |