Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0015397 Disorder of eye group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 211
C0878659 Disproportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 77
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 44
C2020284 Stickler syndrome, type 1 disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 5
C4520892 Otospondylomegaepiphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 2
C0220685 Achondrogenesis type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C4551562 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 1
C0410480 Avascular Necrosis of Femur Head phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 1
C1836683 Czech dysplasia, metatarsal type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1
C1851536 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 1
C0265279 Kniest dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0023234 Legg-Calve-Perthes Disease disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of limbs; Abnormality of the skeletal system 1
C0432214 Namaqualand hip dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1
C1835437 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1
C2745959 Spondyloepiphyseal dysplasia, congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C4225273 SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE disease Disease or Syndrome 1
C0796173 Spondyloperipheral dysplasia short ulna disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1
C1836080 Stickler Syndrome, Type I, Nonsyndromic Ocular disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1
C0700635 Strudwick syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the skeletal system 1
C1852989 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1