Source: HPO

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 555
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 65
C0158465 Acquired cubitus valgus disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 34
C0019553 Hip Contracture disease Musculoskeletal Diseases Acquired Abnormality 33
C1446712 Overlapping fingers disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 24
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23
C0041960 Ureterocele disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality disease of anatomical entity Abnormality of the genitourinary system 21
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 19
C0019288 Hernia, Femoral disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the digestive system; Abnormality of connective tissue 18
C0156273 Bladder Diverticulum disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality disease of anatomical entity Abnormality of the genitourinary system 17
C0235259 Subcapsular cataract disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality Abnormality of the eye 13
C0263383 Keratosis pilaris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 12
C0333463 Senile Plaques disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the nervous system 12
C0409345 Flexion contracture - wrist disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 11
C0332790 Osseous ankylosis disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system 6
C0410266 Contracture of hamstring(s) disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 5
C0410740 Acquired deformity of finger disease Musculoskeletal Diseases Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 5
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 4
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 4
C0409336 Flexion contracture-shoulder disease Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 4
C0423428 Scarred macula phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the eye; Abnormality of connective tissue 4
C0020058 Howell-Jolly Bodies disease Acquired Abnormality 3
C0473311 Hemorrhagic cyst of ovary phenotype Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Acquired Abnormality Abnormality of the genitourinary system 2