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brachydactyly type B2
Summary
- Synonym
-
- BDB2
- Definition
- A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.
- Super Class
- brachydactyly
External Links
- Disease Ontology
- DOID:0110975
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
