FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Diamond-Blackfan anemia ID (Ontology) DOID:1339 (Human Disease)
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.
Also Known As "Blackfan - Diamond syndrome" ; "chronic constitutional pure red cell anaemia"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 Diamond-Blackfan anemia       1      1
 model of | Diamond-Blackfan anemia       1       --
Spanning Tree (Parents/Children)
Only view relationship: 
  congenital hypoplastic anemia
   |__pure red-cell aplasia
       |__Diamond-Blackfan anemia  25 rec.
           |__Diamond-Blackfan anemia 1 2 rec.
           |__Diamond-Blackfan anemia 2
           |__Diamond-blackfan anemia 3 1 rec.
           |__Diamond-Blackfan anemia 4 1 rec.
           |__Diamond-Blackfan anemia 5 1 rec.
           |__Diamond-Blackfan anemia 6 1 rec.
           |__Diamond-Blackfan anemia 7 1 rec.
           |__Diamond-Blackfan anemia 8 1 rec.
           |__Diamond-Blackfan anemia 9 2 rec.
           |__Diamond-Blackfan anemia 10 1 rec.
           |__Diamond-Blackfan anemia 11 1 rec.
           |__Diamond-Blackfan anemia 12 1 rec.
           |__Diamond-Blackfan anemia 13 1 rec.
           |__Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1 rec.
           |__Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3 rec.
           |__Diamond-Blackfan anemia 16 1 rec.
           |__Diamond-Blackfan anemia 17 1 rec.
           |__Diamond-Blackfan anemia 18 1 rec.
           |__Diamond-Blackfan anemia 19 1 rec.
           |__Diamond-Blackfan anemia 20 2 rec.
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Is a pure red-cell aplasia
Part of
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Synonyms
  • "Blackfan - Diamond syndrome" EXACT
    "chronic constitutional pure red cell anaemia" EXACT
Secondary IDs
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GARD:6274
ICD10CM:D61.01
MESH:D029503
MIM:PS105650
NCI:C61236
ORDO:124