Smith-McCort dysplasia 1

Term ID

DOID:0081270

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. https://pubmed.ncbi.nlm.nih.gov/9295067/

References

• OMIM:607326

Ontology

Human Disease   ( DOID:0081270 )