Term Name:	spondyloepiphyseal dysplasia Maroteaux type
Synonyms:	Brachyolmia Type 2, Pseudo-Morquio syndrome type 2, SED, Maroteaux type, spondyloepiphyseal dysplasia of Maroteaux
Definition:	An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Ontology:	Human Disease [DOID:0111553]   ( DOID:0111553 )