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Smith-McCort dysplasia 2
Summary
- Definition
- A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.
- Super Class
- Smith-McCort dysplasia
External Links
- Disease Ontology
- DOID:0081271
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
