| Metadata | |
|---|---|
| ID | DOID:0111089 |
| Name | Fanconi anemia complementation group D1 |
| Definition | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. https://www.ncbi.nlm.nih.gov/pubmed/12065746, https://www.ncbi.nlm.nih.gov/pubmed/14670928 |
| Xrefs | |
| Synonyms |
FAD1 [EXACT] FANCD1 [EXACT] |
| Parent Relationships |
is_a Fanconi anemia |