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brachydactyly type E2
Summary
- Synonym
-
- BDE2
- Definition
- A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
- Super Class
- brachydactyly
External Links
- Disease Ontology
- DOID:0110976
- Mondo Disease Ontology
- OMIM
