congenital dyserythropoietic anemia type Ib

Term ID

DOID:0111397

Synonyms

• CDA, type Ib
• CDAN1B

Definition

A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14. https://www.ncbi.nlm.nih.gov/pubmed/23716552

References

• MESH:D000742
• OMIM:615631
• SNOMEDCT_US_2023_03_01:59548005
• UMLS_CUI:C0271933

Ontology

Human Disease   ( DOID:0111397 )