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Metadata
ID DOID:0111089
Name Fanconi anemia complementation group D1
Definition A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.
https://www.ncbi.nlm.nih.gov/pubmed/12065746, https://www.ncbi.nlm.nih.gov/pubmed/14670928
Xrefs

OMIM:605724

Synonyms

FAD1 [EXACT]

FANCD1 [EXACT]

Parent Relationships

is_a Fanconi anemia

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