has material basis in germline mutation in ACAN hereditary disease bone disorder ACAN-related short stature spectrum https://github.com/monarch-initiative/mondo/issues/9249 MONDO:1060149 A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type.