Term Name:	Dyggve-Melchior-Clausen disease
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.
Ontology:	Human Disease [DOID:0111167]   ( DOID:0111167 )