Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 17 19
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
C0239676 High forehead phenotype Finding Abnormality of head or neck 14 17
C0423113 Telecanthus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck 14 14
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 12 153
C4551602 Noonan Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 11 73
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C0235752 Port-Wine Stain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 8 8
C1860991 NOONAN SYNDROME 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 6 32
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 6 6
C1384670 Single umbilical artery disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of prenatal development or birth; Abnormality of the cardiovascular system 5 5
C0558165 Curly hair (finding) phenotype Finding Abnormality of the integument 4 7
C0175704 LEOPARD Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 3 17
C0017168 Gastroesophageal reflux disease disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 2 2
C1969057 Noonan Syndrome 5 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 1 8
C1969056 LEOPARD SYNDROME 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 1 6
C4014656 CARDIOMYOPATHY, DILATED, 1NN disease Disease or Syndrome genetic disease; disease of anatomical entity 1 6
C0348872 Disorders of both mitral and tricuspid valves disease Disease or Syndrome 1 1
C1383860 Cardiac Hypertrophy phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 1 1
C4020951 Pointed helix phenotype Anatomical Abnormality Abnormality of the ear 1 1