. "ORDO:263482"^^ . _:vb50945042 . "SNOMEDCT_US_2021_09_01:719204007"^^ . "disease_ontology"^^ . . "Brachyolmia Type 2"@en . "OMIM:184095"^^ . "Pseudo-Morquio syndrome type 2"@en . . _:vb50945042 . _:vb50945042 . _:vb50945042 . "spondyloepiphyseal dysplasia of Maroteaux"@en . "GARD:994"^^ . "spondyloepiphyseal dysplasia Maroteaux type"^^ . "SED, Maroteaux type"@en . "UMLS_CUI:C3159322"^^ . . "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."^^ . _:vb50945042 .