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 monogenic disease is_a Fanconi anemia |
Subclass Logical Relationships |
disease has basis in some gene |