Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 803
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 420
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 325
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C0085636 Photophobia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the eye 210
C1845977 X- linked recessive phenotype Finding 172
C0476397 Electroretinogram abnormal phenotype Finding Abnormality of the eye 158
C0028077 Nyctalopia disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the eye 158
C0234632 Reduced visual acuity phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 147
C0009398 Color vision defect phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the eye 80
C0010036 Corneal dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 79
C0271388 Pendular Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 23
C0339537 Cone monochromatism disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the eye 9
C0155015 Color Blindness, Red disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C3887980 Protanomaly disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 1