Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 88 420
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 78 218
C0730292 Macular dystrophy disease Eye Diseases Disease or Syndrome Abnormality of the eye 25 52
C0234632 Reduced visual acuity phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 7 10
C1855465 STARGARDT DISEASE 1 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 6 210
C0339510 Vitelliform Macular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 3 31
C3888198 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity 3 16
C2750789 RETINITIS PIGMENTOSA, CONCENTRIC (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 4
C3888099 Autosomal dominant vitreoretinochoroidopathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 4
C1839025 Decreased light- and dark-adapted electroretinogram amplitude phenotype Finding Abnormality of the eye 1 1
C2674009 Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 1