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Summary Literature (0)
DOID:0111089 - Fanconi anemia complementation group D1

Disease Ontology Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.

Synonyms: FAD1, FANCD1

Xenbase Genes : brca2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011584 - zeugopodial skeleton

MIM:
MIM:605724 - FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), Fanconi anemia (is_a)