parastremmatic dwarfism Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. (Orphanet Rare Disease Ontology, Orphanet_2646)
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1 genes associated with the parastremmatic dwarfism phenotype from the curated OMIM Gene-Disease Associations dataset.

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