Metadata | |
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ID | DOID:0111398 |
Name | congenital dyserythropoietic anemia type Ia |
Definition | A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. https://www.ncbi.nlm.nih.gov/pubmed/12434312 |
Xrefs | |
Synonyms |
CDA Ia [EXACT] CDAN1A [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 |