Dyggve-Melchior-Clausen disease
Information
- Disease name
- Dyggve-Melchior-Clausen disease
- Disease ID
- DOID:0111167
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12491225, url:https\://www.ncbi.nlm.nih.gov/pubmed/21032395]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
- Disase is a (Disease Ontology)
- DOID:0080027
- Cross Reference ID (Disease Ontology)
- GARD:6295
- Cross Reference ID (Disease Ontology)
- MIM:223800
- Exact Synonym (Disease Ontology)
- DMC disease
- Exact Synonym (Disease Ontology)
- pseudo-Morquio disease type I
- OrphaNumber from OrphaNet (Orphanet)
- 239