metatropic dysplasia Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
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1 genes associated with the metatropic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
TRPV4 transient receptor potential cation channel, subfamily V, member 4