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Metadata
ID	DOID:0111167
Name	Dyggve-Melchior-Clausen disease
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. https://www.ncbi.nlm.nih.gov/pubmed/12491225, https://www.ncbi.nlm.nih.gov/pubmed/21032395
Xrefs	GARD:6295 OMIM:223800
Subsets	DO_rare_slim
Synonyms	DMC disease [EXACT] pseudo-Morquio disease type I [EXACT]
Parent Relationships	is_a spondyloepimetaphyseal dysplasia is_a autosomal recessive disease