Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2931258 Amaurosis congenita of Leber, type 1 disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 21
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 28 90
C3151202 LEBER CONGENITAL AMAUROSIS 8 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 20
C1868310 Pigmented Paravenous Chorioretinal Atrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 78 218
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
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