| 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 the C15ORF41 gene on chromosome 15q14. https://www.ncbi.nlm.nih.gov/pubmed/23716552 |
| Xrefs |
SNOMEDCT_US_2023_03_01:59548005 |
| Synonyms |
CDA, type Ib [EXACT] CDAN1B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |