| Term Name: | parastremmatic dwarfism |
|---|---|
| Synonyms: | parastremmatic dysplasia |
| Definition: | An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. |
| Ontology: | Human Disease [DOID:0111539] ( DOID:0111539 ) |