Dyggve-Melchior-Clausen disease

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:223800 - dyggve-melchior-clausen disease; dmc

MIM:223800 - dyggve-melchior-clausen disease; dmc

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)