Source: ALL

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 546 541
C4024818 Progressive night blindness phenotype Eye Diseases Finding Abnormality of the eye 87 3
C0271097 Usher Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 68 74
C1865866 Congenital sensorineural hearing loss disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 68 17
C4072872 obsolete Rod-cone dystrophy disease Disease or Syndrome 29 41
C0241688 Peripheral visual field loss phenotype Finding Abnormality of the eye 19 4
C0339534 Usher syndrome type 2 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 8 16
C1848634 USHER SYNDROME, TYPE IIA disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 4 314
C3151138 RETINITIS PIGMENTOSA 39 (disorder) disease Disease or Syndrome disease of anatomical entity 1 276