Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46 52
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0520679 Sleep Apnea, Obstructive disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 19 23
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 16 16
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 58
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 16 17
C0452138 Sensorineural hearing loss, bilateral disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the ear 15 22
C1328407 Hip Dysplasia disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 12 13
C3494422 Retrognathia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 11 11
C4551485 Clinodactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 10 16
C0747085 Recurrent otitis media disease Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the ear 9 10
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 6 6
C0023234 Legg-Calve-Perthes Disease disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of limbs; Abnormality of the skeletal system 3 7
C0042454 Velopharyngeal Insufficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of head or neck 3 5
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 3 18
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 3 4
C2745959 Spondyloepiphyseal dysplasia, congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 3 24
C0154856 Retinal lattice degeneration disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 2 2
C0265253 Stickler syndrome (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 2 3
C4023918 Short hard palate disease Anatomical Abnormality Abnormality of head or neck 2 4
C4520892 Otospondylomegaepiphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 2 5
C0026760 Multiple Epiphyseal Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of the skeletal system 1 1
C0220685 Achondrogenesis type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1 11