Visualize Submit Comment
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

OMIM:614083

Synonyms

FANCL [EXACT]

Parent Relationships

is_a Fanconi anemia

is_a autosomal recessive disease

Add an item to the term tracker