mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/mild_spondyloepiphyseal_dysplasia_due_to_col2a1_mutation_with_early_onset_osteoarthritis https://www.malacards.org/card/osteoarthritis_with_mild_chondrodysplasia OSCDP UMLS:C0432214 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. GARD:0016812 osteoarthritis with mild chondrodysplasia icd11.foundation:690266690 ICD9:755.63 MONDO:0011496 OMIM:604864 MESH:C565740 SCTID:254064009 MEDGEN:609409 Orphanet:93279 NANDO:2201352 COL2A1-related spondyloepiphyseal dysplasia dysplasia of the proximal femoral epiphyses