| Metadata | |
|---|---|
| ID | DOID:0111083 |
| Name | Fanconi anemia complementation group D2 |
| Definition | A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/11239453, https://www.ncbi.nlm.nih.gov/pubmed/17436244 |
| Xrefs | |
| Synonyms |
FA4 [EXACT] FAD2 [EXACT] FANCD2 [EXACT] Fanconi pancytopenia type 4 [EXACT] |
| Parent Relationships |
is_a Fanconi anemia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |