Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0111167 - Dyggve-Melchior-Clausen disease

Disease Ontology 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.

Synonyms: DMC disease, pseudo-Morquio disease type I

Xenbase Genes : rab33b, dym

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009130 - Dyggve-Melchior-Clausen disease


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), spondyloepimetaphyseal dysplasia (is_a)