Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 78 218
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C4085590 Cone-Rod Dystrophies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome Abnormality of the eye 20 30
C0002418 Amblyopia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 17 22
C0339535 Night blindness, congenital stationary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 9 31
C0271092 Progressive cone dystrophy (without rod involvement) disease Eye Diseases Disease or Syndrome 5 6
C3495587 Night Blindness, Congenital Stationary, Type 1A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 6
C1848172 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 4
C1845407 CONE-ROD DYSTROPHY, X-LINKED, 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 3
C0268505 Ocular albinism, type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 2
C4016457 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE disease Finding 1 1