loading...| Preferred Name | Diamond-Blackfan anemia | |
| Synonyms |
Diamond-Blackfan anemia syndrome Congenital PRCA Congenital pure red cell aplasia |
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| Definitions |
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_124 |
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| alternative_term |
Diamond-Blackfan anemia syndrome Congenital PRCA Congenital pure red cell aplasia |
|
| definition |
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. |
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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=124 |
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| has_age_of_onset |
Childhood Infancy Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:614900 OMIM:618310 OMIM:618313 OMIM:618312 OMIM:300946 MedDRA:10062989 OMIM:612527 OMIM:612528 OMIM:606164 OMIM:105650 OMIM:612563 OMIM:612561 OMIM:612562 OMIM:615550 ICD-10:D61.0 ICD-11:3A60.1 MeSH:D029503 OMIM:617409 OMIM:617408 OMIM:615909 OMIM:610629 OMIM:606129 OMIM:613309 OMIM:613308 OMIM:620072 |
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| label |
Diamond-Blackfan anemia |
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| notation |
ORPHA:124 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_139039 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_68383 |
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| prefixIRI |
ORDO:Orphanet_124 |
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| prefLabel |
Diamond-Blackfan anemia |
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| present_in |
Italy AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.194 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_139039 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_68383 |
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| subClassOf |