Term Name: | Smith-McCort dysplasia |
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Synonyms: | |
Definition: | A Syggve-Melchior-Clausen disease 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 on chromosome 18q. |
Ontology: | Human Disease [DOID:0060247] (DOID:0060247) |