CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0266435 Congenital hypoplasia of penis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 237 0
C1306503 Congenital exomphalos disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; physical disorder 235 0
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228 0
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151 0
C0576226 Short foot phenotype Finding 116 0
C0025037 Meckel Diverticulum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality physical disorder Abnormality of the digestive system 63 0
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
C0221365 Double ureter disease Congenital Abnormality Abnormality of the genitourinary system 34 0
C0685695 Abnormal lung lobation disease Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 32 0
C4023909 Aplasia/Hypoplasia of the abdominal wall musculature phenotype Finding Abnormality of the digestive system; Abnormality of the musculature 32 0
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
C1866241 Broad foot phenotype Musculoskeletal Diseases Finding Abnormality of limbs 30 0
C4551838 Talipes transversoplanus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0
C0264142 Spade-like hand disease Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 24 0
C1865992 Short hallux phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 23 0
C1865841 Flared iliac wings phenotype Finding Abnormality of the skeletal system 19 0
C4021343 Broad hallux phalanx disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 17 0
C1856659 Polysplenia disease Congenital Abnormality Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 15 0
C0006384 Bundle-Branch Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 12 0
C0597167 Islets of Langerhans hyperplasia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the digestive system; Abnormality of the endocrine system 12 0
C0158779 Cervical rib disease Congenital Abnormality Abnormality of the skeletal system 11 0
C1850630 Broad distal phalanx of finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 10 0
C0432055 Simple syndactyly of fingers - first web disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 9 0
C4021539 Posterior helix pit phenotype Finding Abnormality of the ear 9 0