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
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 28 90
C0476397 Electroretinogram abnormal phenotype Finding Abnormality of the eye 7 10
C4025846 Abnormality of vision disease Finding Abnormality of the eye 5 8
C0271583 ACTH Deficiency, Isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 3 11
C0005754 Congenital blindness disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the eye 2 2
C0035304 Retinal Degeneration phenotype Eye Diseases Pathologic Function disease of anatomical entity Abnormality of the eye 2 2
C1859844 LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 21
C3151086 Retinitis Pigmentosa 20 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 16