Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 103 131
C0730292 Macular dystrophy disease Eye Diseases Disease or Syndrome Abnormality of the eye 25 52
C1842364 Central hypotonia phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 23 25
C1840379 Cerebellar vermis hypoplasia phenotype Finding Abnormality of the nervous system 20 26
C4085590 Cone-Rod Dystrophies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome Abnormality of the eye 20 30
C0410916 Neonatal Death phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 9 10
C1865060 Molar tooth sign on MRI phenotype Finding Abnormality of the nervous system 7 7
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
C1864785 Normal kidneys phenotype Finding 3 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
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
C1833999 Retinal pigmentary degeneration phenotype Finding Abnormality of the eye 1 1
C3275899 Hyperechogenic kidneys phenotype Finding Abnormality of the genitourinary system 1 2
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 88 420
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 78 218
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 28 90
C0079924 Oligohydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 17 21
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 18
C0022595 Keratosis Follicularis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 13 17