Human genes for spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia Maroteaux type [DOID:0111553]
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 TRPV4 on chromosome 12q24.11.
Synonyms: spondyloepiphyseal dysplasia Maroteaux type, DOID:0111553, spondyloepiphyseal dysplasia Maroteaux types, Brachyolmia Type 2, Pseudo-Morquio syndrome type 2 ...