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ZIRC
OBO ID: DOID:1339
Term Name: Diamond-Blackfan anemia Search Ontology:
Synonyms:
  • Blackfan - Diamond syndrome
  • chronic constitutional pure red cell anaemia
Definition: A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has material basis insufficient levels of red blood cells due to bone marrow dysfunction. (4)
References:
Ontology: Human Disease   (DOID:1339)
OTHER Diamond-Blackfan anemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RPL11 Diamond-Blackfan anemia 7 612562
RPL15 ?Diamond-Blackfan anemia 12 615550
RPL26 ?Diamond-Blackfan anemia 11 614900
RPL35A Diamond-Blackfan anemia 5 612528
RPL5 Diamond-Blackfan anemia 6 612561
RPS10 Diamond-Blackfan anemia 9 613308
RPS17 Diamond-Blackfan anemia 4 612527
RPS19 Diamond-Blackfan anemia 1 105650
RPS24 Diamond-blackfan anemia 3 610629
RPS26 Diamond-Blackfan anemia 10 613309
RPS29 Diamond-Blackfan anemia 13 615909
RPS7 Diamond-Blackfan anemia 8 612563
PHENOTYPE No data available

CITATIONS (19)