Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0205929 Anal Fistula disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality disease of anatomical entity Abnormality of the digestive system 1
C0264162 Camptocormia disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality Abnormality of the skeletal system 1
C0395905 Postauricular fistula disease Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Acquired Abnormality Abnormality of the integument; Abnormality of head or neck 1
C0409346 Contracture of joint of thumb disease Musculoskeletal Diseases Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1
C4476725 Retinal arterial macroaneurysms phenotype Acquired Abnormality Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system 1
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 262
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 244
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
C3494422 Retrognathia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 178
C0240063 Coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality Abnormality of the eye 144
C0575158 Kyphoscoliosis deformity of spine disease Musculoskeletal Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the skeletal system 135
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 114
C0576093 Knee joint valgus deformity disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 111
C1328407 Hip Dysplasia disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 105
C4025814 Abnormality of the metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 97
C4021800 Abnormality of dental enamel group Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 90
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 89
C1846460 Abnormality of the outer ear disease Anatomical Abnormality Abnormality of the ear 87
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
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
C4025819 Abnormality of the hypothalamus-pituitary axis disease Anatomical Abnormality Abnormality of the endocrine system 70
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 63