CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0685695 Abnormal lung lobation disease Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 32 0
C4049796 Abnormality of cardiovascular system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 198 13
C1856660 Abnormality of the helix phenotype Finding Abnormality of the ear 21 2
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 85 9
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 69 5
C0266011 Accessory nipple disease Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the breast 38 3
C0266631 Accessory spleen disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 41 0
C1368898 Adult Teratoma disease Neoplasms Neoplastic Process disease of cellular proliferation 93 3
C0545053 Advanced bone age phenotype Finding Abnormality of the skeletal system 64 4
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 615 45
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407 35
C4023909 Aplasia/Hypoplasia of the abdominal wall musculature phenotype Finding Abnormality of the digestive system; Abnormality of the musculature 32 0
C4021326 Aplasia/Hypoplasia of the distal phalanges of the toes phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 4 0
C1856749 Aplastic/hypoplastic toenail phenotype Finding Abnormality of the integument 23 1
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 384 96
C2930471 Bilateral Wilms Tumor disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0
C1839271 Birth length greater than 97th percentile phenotype Finding Growth abnormality 6 2
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C0005941 Bone Diseases, Developmental group Musculoskeletal Diseases Disease or Syndrome 82 2
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 325 43
C1850630 Broad distal phalanx of finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 10 0
C1866241 Broad foot phenotype Musculoskeletal Diseases Finding Abnormality of limbs 30 0
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 133 13
C1867131 Broad hallux phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 48 14