| Metadata | |
|---|---|
| ID | DOID:0081270 |
| Name | Smith-McCort dysplasia 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/9295067/ |
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