Term Name: | brachydactyly type E1 |
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Synonyms: | BDE1 |
Definition: | A 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. |
Ontology: | Human Disease [DOID:0110972] ( DOID:0110972 ) |