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
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 88 257
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
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 24 25
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
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
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 19 21
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 19 20
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
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
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 16 16
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
C0426790 Narrow thorax phenotype Finding Abnormality of the skeletal system 15 18
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 18
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 14 19
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
C0426817 Short ribs phenotype Finding Abnormality of the skeletal system 12 27
C0240543 Bulbous nose phenotype Finding Abnormality of head or neck 12 13