Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0015397 Disorder of eye group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 212 0
C4277690 Ciliopathies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 104 422
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 98 261
C1510586 Autism Spectrum Disorders disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 85 75
C1568249 Usher Syndrome, Type II 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 5 1
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 3 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 2 314
C3151138 RETINITIS PIGMENTOSA 39 (disorder) disease Disease or Syndrome disease of anatomical entity 1 276