Metadata | |
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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 |
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 |