Diamond-Blackfan anemia

Summary
Synonym
  • Blackfan - Diamond syndrome
  • chronic constitutional pure red cell anaemia
Definition
A pure red-cell aplasia 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.
Super Class
pure red-cell aplasia
Disease Ontology
DOID:1339
Mondo Disease Ontology
MeSH
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6223 RPS19 ribosomal protein S19
55027 HEATR3 HEAT repeat containing 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
226844 Flvcr1 feline leukemia virus subgroup C cellular receptor 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025