| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
DMC disease [EXACT] pseudo-Morquio disease type I [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some vertebral column disease has location some finger has material basis in some autosomal recessive inheritance |