Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 262
C0039273 Talipes cavus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 212
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
C0240063 Coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality Abnormality of the eye 144
C0040588 Tracheoesophageal Fistula disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality Abnormality of the digestive system; Abnormality of the respiratory system 72
C4021792 Abnormality of the clavicle disease Anatomical Abnormality Abnormality of the skeletal system 42
C0005937 Bone Cysts disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 25
C4025835 Abnormal nasolacrimal system morphology disease Anatomical Abnormality Abnormality of head or neck 23
C4021343 Broad hallux phalanx disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 17
C4025750 Abnormality of the nasopharynx disease Anatomical Abnormality Abnormality of head or neck 10
C4021723 Short middle phalanx of toe disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C0546297 Hallux Varus disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3
C4023161 Abnormal bone ossification disease Anatomical Abnormality Abnormality of the skeletal system 3
C4025680 Abnormal cartilage morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 2
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
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
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 469
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 456
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 407
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 325