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Disease Anemia, Diamond-Blackfan

Name Anemia, Diamond-Blackfan
Synonyms AASE-SMITH SYNDROME II | AASE SYNDROME | Anemia, Blackfan Diamond | ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC | Anemia, Congenital Hypoplastic, Of Blackfan And Diamond | Anemia, Diamond Blackfan | Anemia, Diamond Blackfan Type | Anemia, Diamond-Blackfan Type | Anemia, Hypoplastic Congenital | Anemias, Hypoplastic Congenital | AREGENERATIVE ANEMIA, CHRONIC CONGENITAL | BDS | Blackfan Diamond Anemia | Blackfan Diamond Disease | Blackfan-Diamond Disease | Blackfan Diamond Syndrome | Blackfan-Diamond Syndrome | Chronic Congenital Agenerative Anemia | Congenital Anemia, Hypoplastic | Congenital Anemias, Hypoplastic | Congenital Erythroid Hypoplastic Anemia | Congenital Hypoplastic Anemia of Blackfan and Diamond | Congenital Pure Red Cell Anemia | Congenital Pure Red Cell Aplasia | DBA | DBA1 | Diamond Anemia, Blackfan | Diamond Blackfan Anemia | Diamond-Blackfan Anemia | DIAMOND-BLACKFAN ANEMIA 1 | Diamond-Blackfan Type Anemia | Disease, Blackfan-Diamond | Erythroblastopenia, Inherited | Erythroblastopenias, Inherited | Erythrogenesis Imperfecta | Erythrogenesis Imperfectas | Hypoplastic Congenital Anemia | Hypoplastic Congenital Anemias | Imperfecta, Erythrogenesis | Imperfectas, Erythrogenesis | Inherited Erythroblastopenia | Inherited Erythroblastopenias | Pure Hereditary Red Cell Aplasia | Red Cell Aplasia, Pure, Hereditary
Definition A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
Categories Blood disease | Genetic disease (inborn)
MeSH® ID D029503
OMIM® ID 105650
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Top ↑ Ancestors

1. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Anemia Has associated chemicals Has associated genes Has associated exposure references Anemia, Aplastic Has associated chemicals Has associated genes Anemia, Hypoplastic, Congenital Has associated chemicals Has associated genes Anemia, Diamond-Blackfan Has associated chemicals Has associated genes
2. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Anemia Has associated chemicals Has associated genes Has associated exposure references Red-Cell Aplasia, Pure Has associated chemicals Has associated genes Anemia, Diamond-Blackfan Has associated chemicals Has associated genes
3. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Marrow Diseases Has associated chemicals Has associated genes Anemia, Aplastic Has associated chemicals Has associated genes Anemia, Hypoplastic, Congenital Has associated chemicals Has associated genes Anemia, Diamond-Blackfan Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Anemia, Hypoplastic, Congenital Has associated chemicals Has associated genes Anemia, Diamond-Blackfan Has associated chemicals Has associated genes

Top ↑ Descendants

Anemia, Diamond-Blackfan Has associated chemicals Has associated genes
  Aase Smith syndrome 2
  Anemia, Diamond-Blackfan, 2
  Anemia, Diamond-Blackfan, 3 Has associated chemicals Has associated genes
  Diamond-Blackfan Anemia 1
  Diamond-Blackfan Anemia 10 Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 11 Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 12 Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 13 Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 16 Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 17 Has associated chemicals Has associated genes
  Diamond-Blackfan Anemia 4 Has associated chemicals Has associated genes
  Diamond-Blackfan Anemia 5 Has associated chemicals Has associated genes
  DIAMOND-BLACKFAN ANEMIA 6 Has associated chemicals Has associated genes
  Diamond-Blackfan Anemia 7 Has associated chemicals Has associated genes
  Diamond-Blackfan Anemia 8 Has associated chemicals Has associated genes
  Diamond-Blackfan Anemia 9 Has associated chemicals Has associated genes
  Diamond-Blackfan Anemia With Microtia And Cleft Palate