Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0023234 Legg-Calve-Perthes Disease disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of limbs; Abnormality of the skeletal system 1
C0220685 Achondrogenesis type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 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
C0432214 Namaqualand hip dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
C0796173 Spondyloperipheral dysplasia short ulna 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
C1836080 Stickler Syndrome, Type I, Nonsyndromic Ocular disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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
C1852989 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 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
C4551562 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 1
C0878659 Disproportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 77
C0410480 Avascular Necrosis of Femur Head phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 1
C0015397 Disorder of eye group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 211