osteochondrodysplasia Kniest dysplasia https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia https://www.malacards.org/card/kniest_dysplasia MEDGEN:75559 DOID:0080045 icd11.foundation:2088691719 MONDO:0007987 Kniest dysplasia MESH:C537207 ICD9:756.9 OMIM:156550 GARD:0006841 UMLS:C0265279 NCIT:C125594 NORD:1339 Orphanet:485 SCTID:53974002 A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones. NANDO:2201350 spondyloepiphyseal dysplasia spondylometaphyseal dysplasia type 2 collagenopathy obsolete_Kniest dysplasia