Dyggve-Melchior-Clausen disease

Term ID

DOID:0111167

Synonyms

• DMC disease
• pseudo-Morquio disease type I

Definition

A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. (2)

References

• GARD:6295
• MIM:223800

Ontology

Human Disease   ( DOID:0111167 )