Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 555
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 262
C0019294 Hernia, Inguinal phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of connective tissue 196
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 185
C4021611 Abnormality of epiphysis morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 86
C0009080 Clubbed Fingers disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 85
C4020847 Abnormality of pelvic girdle bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 52
C4021785 Abnormality of the metacarpal bones disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 39
C4021750 Abnormality of femur morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 32
C1859399 Radial bowing phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 17
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
C4021742 Abnormality of the humerus disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 9
C0585984 Laryngotracheomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality Abnormality of the respiratory system 5
C1855418 Thoracolumbar kyphosis disease Anatomical Abnormality Abnormality of the skeletal system 5
C4025056 Failure of eruption of permanent teeth disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 5
C4025675 Abnormality of the radius disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 5
C4476900 Abnormal pancreatic duct morphology phenotype Anatomical Abnormality Abnormality of the digestive system 5
C4025664 Abnormality of fibula morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C4025795 Short tubular bones of the hand phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C4021711 Epiphyseal stippling of the humerus phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C4025049 Distal tapering femur disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 582
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 550