Term Name: | parastremmatic dwarfism |
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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 ) |