Term Name:	Smith-McCort dysplasia 2
Synonyms:
Definition:	A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.
Ontology:	Human Disease [DOID:0081271]   ( DOID:0081271 )