# Smith-McCort dysplasia

> osteochondrodysplasia 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

**Wikidata**: [Q18966123](https://www.wikidata.org/wiki/Q18966123)  
**Source**: https://4ort.xyz/entity/smith-mccort-dysplasia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene
5. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)