| Metadata | |
|---|---|
| ID | DOID:0111895 |
| Name | Diamond-Blackfan anemia 1 |
| Definition | A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/9988267/ |
| Xrefs | |
| Synonyms |
DBA1 [EXACT] RPS19-related Diamond-Blackfan anemia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |