Term Name: | Dyggve-Melchior-Clausen disease |
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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 ) |