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Brachydactyly Type E1

Disease ID: disease_node_15750

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DbxrefMIM:113300
SubclassofDOID_0050581
Data SourceDOID
SynonymsBDE1
Doid Labelbrachydactyly type E1
Doid DescriptionA brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
Disease Node Iddisease_node_15750
Doid IdDOID_0110972
LabelBrachydactyly Type E1