| Metadata | |
|---|---|
| ID | DOID:0081271 |
| Name | Smith-McCort dysplasia 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/23042644/ |
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