| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. (Orphanet Rare Disease Ontology, Orphanet_2635) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C537356 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Metatropic dwarfism from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| TRPV4 | transient receptor potential cation channel, subfamily V, member 4 | 2.88009 |
