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
C2931258 Amaurosis congenita of Leber, type 1 disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 21
C3151202 LEBER CONGENITAL AMAUROSIS 8 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 20
C1838647 RETINITIS PIGMENTOSA 12 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 16
C1868310 Pigmented Paravenous Chorioretinal Atrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2