Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0796074 MOHR-TRANEBJAERG SYNDROME disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of metabolism 6 14
C0014067 Occipital Encephalocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 6 8
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 4 5
C1834931 Cystic renal dysplasia disease Anatomical Abnormality Abnormality of the genitourinary system 3 4
C0700501 Congenital nystagmus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 3 3
C1864785 Normal kidneys phenotype Finding 3 3
C2673874 BARDET-BIEDL SYNDROME 14 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease 2 17
C0266292 Congenital anomaly of the kidney group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 2 3
C1847762 Cerebellar cyst phenotype Finding Abnormality of the nervous system 2 3
C0005754 Congenital blindness disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the eye 2 2
C1857780 JOUBERT SYNDROME 5 disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 1 43
C1970161 MECKEL SYNDROME, TYPE 4 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease; syndrome 1 26
C1857821 LEBER CONGENITAL AMAUROSIS 10 (disorder) disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 17
C1857779 SENIOR-LOKEN SYNDROME 6 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1 12
C3275899 Hyperechogenic kidneys phenotype Finding Abnormality of the genitourinary system 1 2
C1833999 Retinal pigmentary degeneration phenotype Finding Abnormality of the eye 1 1