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congenital dyserythropoietic anemia type Ib
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease congenital dyserythropoietic anemia type I
External Links
- Disease Ontology
- DOID:0111397
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15437 | Protein transport protein Sec23B |
