# Fanconi anemia complementation group L

> Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16

**Wikidata**: [Q32146879](https://www.wikidata.org/wiki/Q32146879)  
**Source**: https://4ort.xyz/entity/fanconi-anemia-complementation-group-l


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A novel ubiquitin ligase is deficient in Fanconi anemia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/93d0cb5f-4859-4b28-b647-3f8226fe5921--2020-07-30T20:38:45)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93d0cb5f-4859-4b28-b647-3f8226fe5921-2020-07-30T203845.671Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000115392/MONDO_0013566)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)