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
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
C4025814 Abnormality of the metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 97
C1846460 Abnormality of the outer ear disease Anatomical Abnormality Abnormality of the ear 87
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
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 63
C3164445 Abnormality of aortic valve disease Anatomical Abnormality Abnormality of the cardiovascular system 48
C4025900 Abnormality of female internal genitalia disease Anatomical Abnormality Abnormality of the genitourinary system 31
C4021242 Hypoplasia of the zygomatic bone disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 29
C4021801 Lacrimation abnormality disease Anatomical Abnormality Abnormality of the eye 29
C4021657 Abnormality of bone mineral density disease Anatomical Abnormality Abnormality of the skeletal system 21
C4317152 Dimple chin phenotype Anatomical Abnormality Abnormality of head or neck 14
C4025663 Abnormality of tibia morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 12
C4021794 Abnormality of the adrenal glands disease Anatomical Abnormality Abnormality of the endocrine system 9
C4023796 Aplasia/Hypoplasia of the thymus disease Anatomical Abnormality Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system 6
C4025810 Abnormal palmar dermatoglyphics disease Anatomical Abnormality Abnormality of the integument; Abnormality of limbs 5
C4023824 Bifid femur disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4
C4021984 Abnormal soft palate morphology disease Anatomical Abnormality Abnormality of head or neck 3
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