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brachydactyly type D
Summary
- Synonym
-
- BDD
- Definition
- A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.
- Super Class
- autosomal dominant disease brachydactyly
External Links
- Disease Ontology
- DOID:0110971
- Mondo Disease Ontology
- OMIM
