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Smith-McCort dysplasia 1
Summary
- Definition
- A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
- Super Class
- Smith-McCort dysplasia
External Links
- Disease Ontology
- DOID:0081270
- Mondo Disease Ontology
- OMIM
