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Metadata
ID DOID:0111083
Name Fanconi anemia complementation group D2
Definition A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
https://www.ncbi.nlm.nih.gov/pubmed/11239453, https://www.ncbi.nlm.nih.gov/pubmed/17436244
Xrefs

MIM:227646

Synonyms

FA4 [EXACT]

FAD2 [EXACT]

FANCD2 [EXACT]

Fanconi pancytopenia type 4 [EXACT]

Parent Relationships

is_a Fanconi anemia

is_a autosomal recessive disease

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