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
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85
C0431399 Familial aplasia of the vermis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Abnormality of the nervous system 26 175
C0152427 Polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder Abnormality of limbs; Abnormality of the skeletal system 24 37
C0265215 Meckel-Gruber syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease; syndrome 18 105
C0220726 Diastrophic dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 13 62
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
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
C1260922 Abnormal breathing phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 2 2
C3809352 MECKEL SYNDROME, TYPE 11 disease Disease or Syndrome 1 6
C3554235 JOUBERT SYNDROME 20 disease Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 1 4