Source: INFERRED

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 561
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 71
C1446712 Overlapping fingers disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 26
C0409345 Flexion contracture - wrist disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 15
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 282
C0019294 Hernia, Inguinal phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of connective tissue 208
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
C0575158 Kyphoscoliosis deformity of spine disease Musculoskeletal Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the skeletal system 141
C0576093 Knee joint valgus deformity disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 115
C4025814 Abnormality of the metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 97
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 93
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 66
C0521620 Dilatation of ureter disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 58
C4021741 Abnormal cortical bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 41
C4021785 Abnormality of the metacarpal bones disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 40
C0040427 Tooth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 36
C0019270 Hernia phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of connective tissue 31
C1389016 ATRIOVENTRICULAR CANAL DEFECT disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the cardiovascular system 28
C4025881 Abnormal oral frenulum morphology disease Anatomical Abnormality Abnormality of head or neck 19
C1859399 Radial bowing phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 18
C0238441 Subglottic stenosis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality Abnormality of the respiratory system 12
C4025167 Abnormal vertebral segmentation and fusion disease Anatomical Abnormality Abnormality of the skeletal system 11
C0521618 Stenosis of ureter disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 10