has material basis in germline mutation in TRPV4 spondyloepimetaphyseal dysplasia, Maroteaux type https://github.com/monarch-initiative/mondo/issues/2706 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://www.malacards.org/card/spondyloepiphyseal_dysplasia_maroteaux_type_2 SCTID:719204007 UMLS:C3159322 MEDGEN:463613 pseudo-Morquio syndrome type 2 SED, Maroteaux type OMIM:184095 Orphanet:263482 spondyloepimetaphyseal dysplasia, Maroteaux type MONDO:0008473 GARD:0000994 spondyloepiphyseal dysplasia Maroteaux type brachyolmia Maroteaux type spondyloepiphyseal dysplasia, Maroteaux type DOID:0111553 A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. spondyloepiphyseal dysplasia TRPV4-related bone disorder spondyloepimetaphyseal dysplasia