Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0154860 Hereditary retinal dystrophy group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 40
C3151202 LEBER CONGENITAL AMAUROSIS 8 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
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