spondyloepiphyseal dysplasia congenita https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5285 https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita https://www.malacards.org/card/spondyloepiphyseal_dysplasia_congenita Spondyloepiphyseal Dysplasia, Congenital Spranger-Wiedemann disease NORD:1733 NANDO:2201348 DOID:14789 congenital spondyloepiphyseal dysplasia MONDO:0008471 A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. Orphanet:94068 SEDC UMLS:C2745959 spondyloepiphyseal dysplasia, congenital type SCTID:278713008 GARD:0004987 ICD9:756.9 MedDRA:10062920 OMIM:183900 SED congenita spondyloepiphyseal dysplasia congenita MESH:C535788 MEDGEN:412530 type 2 collagenopathy COL2A1-related spondyloepiphyseal dysplasia