Metadata | |
---|---|
ID | DOID:0111082 |
Name | Fanconi anemia complementation group L |
Definition | A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. https://www.ncbi.nlm.nih.gov/pubmed/12973351, https://www.ncbi.nlm.nih.gov/pubmed/19405097 |
Xrefs | |
Synonyms |
FANCL [EXACT] |
Parent Relationships |
is_a Fanconi anemia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |