Dyggve-Melchior-Clausen Disease
Disease ID: disease_node_15667
Connections displayed (default: 10).
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| Dbxref | GARD:6295, MIM:223800 |
|---|---|
| Subclassof | DOID_0080027, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DMC disease, pseudo-Morquio disease type I |
| Disease Has Location | UBERON_0002389, UBERON_0001130 |
| Doid Label | Dyggve-Melchior-Clausen disease |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15667 |
| Doid Id | DOID_0111167 |
| Label | Dyggve-Melchior-Clausen Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Spondyloepimetaphyseal Dysplasia(ID:disease_node_15662) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)