| Dataset | DisGeNET 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 | https://www.disgenet.org/browser/0/1/0/C3711162 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the disease Metatropic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| TRPV4 | transient receptor potential cation channel, subfamily V, member 4 |
