Term Name: Smith-McCort dysplasia
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)

Relationships
is a type of: Dyggve-Melchior-Clausen disease