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
C2750063 Leber Congenital Amaurosis 14 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C2750064 Retinal Dystrophy, Early-Onset Severe, Lrat-Related disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C2750065 RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1