Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000731 Abdomen distended phenotype Digestive System Diseases Finding Abnormality of the digestive system 103
C4021741 Abnormal cortical bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 41
C4021241 Abnormal foot bone ossification disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89
C4021244 Abnormal hand bone ossification phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 2
C0241654 Abnormal heart valve morphology phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 42
C4025881 Abnormal oral frenulum morphology disease Anatomical Abnormality Abnormality of head or neck 19
C1260926 Abnormal pigmentation phenotype Finding Abnormality of the integument 58
C4025167 Abnormal vertebral segmentation and fusion disease Anatomical Abnormality Abnormality of the skeletal system 11
C4049796 Abnormality of cardiovascular system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 172
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
C4024733 Abnormality of the fifth metatarsal bone disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4021785 Abnormality of the metacarpal bones disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 40
C4025814 Abnormality of the metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 97
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 85
C4021738 Abnormality of the pubic bone phenotype Anatomical Abnormality Abnormality of the skeletal system 4
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 66
C1862136 Abnormality of the tarsal bones phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 1
C1855669 Absent frontal sinuses phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 9
C1856639 Absent/hypoplastic paranasal sinuses phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 6
C0265609 Accessory carpal bones disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; physical disorder Abnormality of limbs; Abnormality of the skeletal system 2
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0917990 Acro-Osteolysis disease Musculoskeletal Diseases Disease or Syndrome genetic disease Abnormality of limbs; Abnormality of the skeletal system 13
C0545053 Advanced bone age phenotype Finding Abnormality of the skeletal system 64
C1857101 Anisospondyly phenotype Finding Abnormality of the skeletal system 4