spondyloepiphyseal dysplasia Maroteaux type (DOID:0111553)
Alliance: disease page
Synonyms: Brachyolmia Type 2; Pseudo-Morquio syndrome type 2; SED, Maroteaux type; spondyloepiphyseal dysplasia of Maroteaux
Alt IDs: OMIM:184095, ORDO:263482, UMLS_CUI:C3159322
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.