Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0595995 Idiopathic scoliosis disease Musculoskeletal Diseases Acquired Abnormality disease of anatomical entity 46 17
C0015826 Fenestration (morphologic abnormality) disease Acquired Abnormality 43 0
C0333293 Healing ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1
C0334070 Maturation defect phenotype Acquired Abnormality 43 2
C0751633 Carotid Artery Plaque disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3
C2936380 Neointima disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 40 0
C0158465 Acquired cubitus valgus disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 35 1
C0019553 Hip Contracture disease Musculoskeletal Diseases Acquired Abnormality 34 0
C0156181 Peritoneal adhesion disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 32 0
C0242362 Disk, Herniated disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0
C0263383 Keratosis pilaris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4
C1446712 Overlapping fingers disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 27 2
C0035450 Rheumatoid Nodule disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3
C0041960 Ureterocele disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality disease of anatomical entity Abnormality of the genitourinary system 26 1
C0205204 Scab disease Acquired Abnormality 24 0
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23 0
C0019288 Hernia, Femoral disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the digestive system; Abnormality of connective tissue 18 0
C0156273 Bladder Diverticulum disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality disease of anatomical entity Abnormality of the genitourinary system 18 0
C0235259 Subcapsular cataract disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality Abnormality of the eye 17 1
C0333209 Platelet thrombus disease Cardiovascular Diseases Acquired Abnormality 17 0
C1515091 Surgically-Created Resection Cavity disease Acquired Abnormality 16 3
C0409345 Flexion contracture - wrist disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 15 4
C0155164 Conjunctival scar disease Pathological Conditions, Signs and Symptoms; Eye Diseases Acquired Abnormality 14 0
C0158458 Acquired hallux valgus disease Musculoskeletal Diseases Acquired Abnormality 14 0
C0221248 Tophus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3