Fanconi anemia complementation group L
Go to external page http://purl.obolibrary.org/obo/MONDO_0013566
Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: Fanconi anemia complementation group type L FANCL Fanconi anaemia Fanconi anaemia caused by mutation in FANCL Fanconi anemia complementation group L FANCL Fanconi Anemia, complementation group type 50 FANCL Fanconi anemia Fanconi anaemia complementation group type L Fanconi anemia caused by mutation in FANCL
Term information
- DOID:0111082 (MONDO:equivalentTo)
- GARD:15754 (OMIM:614083)
- OMIM:614083 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
Fanconi Anemia, complementation Group 50
Fanconi anemia, complementation group L