has material basis in germline mutation in CHST3 mineral metabolism disease spondyloepiphyseal dysplasia with congenital joint dislocations https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome https://www.malacards.org/card/spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations Orphanet:263463 Gollop Coates syndrome CHST3-related skeletal dysplasia chondrodysplasia with multiple dislocations bifurcation of distal humerus with oligoectro-syndactyly Humerospinal dysostosis SEDCJD SDCD, CHST3 type SCTID:702400006 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type DOID:0050813 GARD:0013169 chondrodysplasia with congenital joint dislocations, CHST3 type CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. MEDGEN:373381 ICD9:756.9 spondyloepiphyseal dysplasia with congenital joint dislocations OMIM:143095 spondyloepiphyseal dysplasia MESH:C537283 UMLS:C1837657 spondyloepiphyseal dysplasia inborn errors of metabolism obsolete primary bone dysplasia with multiple joint dislocations