| Term Name: | Smith-McCort dysplasia 1 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0081270] ( DOID:0081270 ) |