| Metadata | |
|---|---|
| ID | DOID:0111097 |
| Name | Fanconi anemia complementation group J |
| Definition | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. https://www.ncbi.nlm.nih.gov/pubmed/16116424 |
| Xrefs | |
| Synonyms |
FANCJ [EXACT] |
| Parent Relationships |
is_a Fanconi anemia is_a monogenic disease |