Diamond-Blackfan anemia

Summary
Synonym
  • 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.
Super Class
congenital hypoplastic anemia
Disease Ontology
DOID:1339
Mondo Disease Ontology
MeSH
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
6132 RPL8 ribosomal protein L8
6141 RPL18 ribosomal protein L18
6165 RPL35A ribosomal protein L35a
28982 FLVCR1 FLVCR choline and heme transporter 1
55027 HEATR3 HEAT repeat containing 3
Displaying all 4 entries
Gene ID Gene Symbol Description Source
27370 Rps26 ribosomal protein S26
57808 Rpl35a ribosomal protein L35A
226844 Flvcr1 feline leukemia virus subgroup C cellular receptor 1
234549 Heatr3 HEAT repeat containing 3

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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 9, 2024