# Fanconi anemia complementation group D1

> Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13

**Wikidata**: [Q32146983](https://www.wikidata.org/wiki/Q32146983)  
**Source**: https://4ort.xyz/entity/fanconi-anemia-complementation-group-d1


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Biallelic inactivation of BRCA2 in Fanconi anemia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/48faf04b-ffc4-4163-8570-22f5c29c4064--2019-04-19T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48faf04b-ffc4-4163-8570-22f5c29c4064-2018-12-21T151618.437Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139618/MONDO_0011584)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. UMLS 2023