CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 37 49
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 30 35
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 29 30
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 19 38
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
C0019322 Umbilical hernia phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 17 17
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 13 17
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
C1855728 Low posterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 10 11
C4282407 Sparse and thin eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 8 8
C1857539 Deep palmar crease phenotype Finding Abnormality of the integument; Abnormality of limbs 7 8
C1860493 Abnormality of the sternum phenotype Anatomical Abnormality Abnormality of the skeletal system 6 11
C1857953 Deep plantar creases phenotype Finding Abnormality of the integument; Abnormality of limbs 5 6
C1839797 Deep philtrum phenotype Finding Abnormality of head or neck 5 5
C0558165 Curly hair (finding) phenotype Finding Abnormality of the integument 4 7