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brachydactyly type E1
Summary
- Synonym
-
- 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.
- Super Class
- brachydactyly
External Links
- Disease Ontology
- DOID:0110972
- Mondo Disease Ontology
- OMIM
