Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 579
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 282
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 189
C0240063 Coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality Abnormality of the eye 146
C1328407 Hip Dysplasia disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 114
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 104
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 95
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 66
C3164445 Abnormality of aortic valve disease Anatomical Abnormality Abnormality of the cardiovascular system 50
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 22
C4317152 Dimple chin phenotype Anatomical Abnormality Abnormality of head or neck 16
C4025663 Abnormality of tibia morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 13
C4082168 Partial duplication of thumb phalanx disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 12
C4021777 Abnormality of the larynx phenotype Anatomical Abnormality Abnormality of the respiratory system 11
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
C4023386 Morphological abnormality of the semicircular canal disease Anatomical Abnormality Abnormality of the ear 4