Term Name: | Smith-McCort dysplasia 1 |
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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 ) |