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 )

Relationships
is a type of: Smith-McCort dysplasia