Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4021343 Broad hallux phalanx disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 17 0
C1865841 Flared iliac wings phenotype Finding Abnormality of the skeletal system 19 0
C1856660 Abnormality of the helix phenotype Finding Abnormality of the ear 21 2
C0221766 Diastasis recti disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the digestive system; Abnormality of the musculature 22 1
C1856749 Aplastic/hypoplastic toenail phenotype Finding Abnormality of the integument 23 1
C1865992 Short hallux phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 23 0
C0264142 Spade-like hand disease Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs 24 0
C0542518 Enlarged kidney phenotype Finding Abnormality of the genitourinary system 27 2
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
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
C0015306 Hereditary Multiple Exostoses disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity Neoplasm; Abnormality of the skeletal system 32 51
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
C0221365 Double ureter disease Congenital Abnormality Abnormality of the genitourinary system 34 0
C2986703 Overgrowth Syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 6
C0151878 Prolonged QT interval phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 38 12
C0266011 Accessory nipple disease Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the breast 38 3
C0432163 Defect of vertebral segmentation disease Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 40 6
C0266610 Preauricular dimple disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 40 5
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
C0796154 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome genetic disease 44 12
C1867131 Broad hallux phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 48 14
C1860816 Preauricular skin tag phenotype Finding Abnormality of the integument; Abnormality of head or neck 53 4
C1836195 Short toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 56 3