Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1839731 11 pairs of ribs phenotype Finding Abnormality of the skeletal system 18
C3151523 Abnormal cervical curvature phenotype Finding Abnormality of the skeletal system 4
C4024595 Abnormal ossification involving the femoral head and neck phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 3
C4476900 Abnormal pancreatic duct morphology phenotype Anatomical Abnormality Abnormality of the digestive system 5
C4021611 Abnormality of epiphysis morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 86
C4021750 Abnormality of femur morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 32
C4025664 Abnormality of fibula morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C4020847 Abnormality of pelvic girdle bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 52
C1852464 Abnormality of the cervical spine phenotype Finding Abnormality of the skeletal system 8
C4021742 Abnormality of the humerus disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 9
C4021785 Abnormality of the metacarpal bones disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 39
C4025675 Abnormality of the radius disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 5
C4025662 Abnormality of the ulna phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 14
C4025663 Abnormality of tibia morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 12
C2678399 Absent humerus phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1
C1832983 Absent or minimally ossified vertebral bodies phenotype Finding Abnormality of the skeletal system 9
C1405984 Absent radius disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 22
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
C0003486 Aortic Aneurysm disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 54
C4023909 Aplasia/Hypoplasia of the abdominal wall musculature phenotype Finding Abnormality of the digestive system; Abnormality of the musculature 32
C1856732 Aplasia/Hypoplasia of the fibula phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 5
C4024996 Aplasia/Hypoplasia of the lungs phenotype Finding Abnormality of the respiratory system 29
C1865571 Aplasia/Hypoplasia of the ulna phenotype Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 6
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 229
C1856599 Beaking of vertebral bodies phenotype Finding Abnormality of the skeletal system 13