Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0878659 Disproportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 77
C3665488 Familial Osteochondritis Dissecans disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1
C2748544 Spondyloepimetaphyseal Dysplasia, Aggrecan Type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1
C1842149 Spondyloepiphyseal Dysplasia, Kimberley Type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1