| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. (Human Disease Ontology, DOID_0060247) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C564589 |
| Similar Terms | |
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1 genes/proteins associated with the disease Smith-McCort Dysplasia from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| DYM | dymeclin | 2.88009 |