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Metadata
ID DOID:0111397
Name congenital dyserythropoietic anemia type Ib
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
Xrefs

MESH:D000742

OMIM:615631

SNOMEDCT_US_2023_03_01:59548005

UMLS_CUI:C0271933

Synonyms

CDA, type Ib [EXACT]

CDAN1B [EXACT]

Parent Relationships

is_a congenital dyserythropoietic anemia type I

is_a autosomal recessive disease

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