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 )

Relationships
is a type of: autosomal dominant disease osteochondrodysplasia