Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111167 )
Relationships
is a type of
has subtype
Other Pages
Genes Involved
Zebrafish Models