OBO ID: DOID:0111167
Term Name: Dyggve-Melchior-Clausen disease Search Ontology:
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)
OTHER Dyggve-Melchior-Clausen disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DYM Dyggve-Melchior-Clausen disease 223800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None