FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Dyggve-Melchior-Clausen disease ID (Ontology) DOID:0111167 (Human 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.
Also Known As "DMC disease" ; "pseudo-Morquio disease type I"
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 Genes
 Dyggve-Melchior-Clausen disease       1
 for disease ribbon | Dyggve-Melchior-Clausen disease       1
 model of | Dyggve-Melchior-Clausen disease       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
spinal disease                        |
 |__spondyloepimetaphyseal dysplasia__|
osteochondrodysplasia                 |
 |__spondyloepimetaphyseal dysplasia__|
                                      Dyggve-Melchior-Clausen disease  3 rec.
                                       |__Smith-McCort dysplasia 3 rec.
                                           |__Smith-McCort dysplasia 1 1 rec.
                                           |__Smith-McCort dysplasia 2 2 rec.
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Is a autosomal recessive disease
spondyloepimetaphyseal dysplasia
Part of
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Synonyms
  • "DMC disease" EXACT
    "pseudo-Morquio disease type I" EXACT
Secondary IDs
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GARD:6295
MIM:223800