loading...| Preferred Name |
Alpha-thalassemia |
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| Synonyms |
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| Definitions |
A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_846 |
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| definition |
A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. |
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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=846 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C0002312 ICD-10:D56.0 ICD-11:3A50.0 MedDRA:10043390 OMIM:604131 MeSH:D017085 |
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| label |
Alpha-thalassemia |
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| notation |
ORPHA:846 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_846 |
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| prefLabel |
Alpha-thalassemia |
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| present_in |
United States AND has_birth_prevalence_average_value : 10.3 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |