Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0334070 Maturation defect phenotype Acquired Abnormality 43 2
C0751633 Carotid Artery Plaque disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 37 3
C0156181 Peritoneal adhesion disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 31 0
C0242362 Disk, Herniated disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0
C0035450 Rheumatoid Nodule disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3
C0205204 Scab disease Acquired Abnormality 24 0
C0263383 Keratosis pilaris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 21 4
C0333209 Platelet thrombus disease Cardiovascular Diseases Acquired Abnormality 17 0
C0221369 Acquired Camptodactyly disease Acquired Abnormality 16 1
C1515091 Surgically-Created Resection Cavity disease Acquired Abnormality 16 3
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
C0333133 Mucus cast disease Acquired Abnormality 14 0
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 14 2
C0086447 Ileal Pouches disease Acquired Abnormality 13 0
C0521175 Neuropil Threads disease Acquired Abnormality 13 0
C0231557 Abnormal bone formation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality 12 1
C0340782 Hyperplastic lymph node disease Acquired Abnormality 12 0
C4476910 Thin-cap fibroatheroma phenotype Cardiovascular Diseases Acquired Abnormality Abnormality of the cardiovascular system 12 0
C0002690 Amputation Stumps disease Acquired Abnormality 11 0
C0033844 Pseudotumor disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 11 0
C0036280 Burn scar disease Pathological Conditions, Signs and Symptoms; Wounds and Injuries Acquired Abnormality 11 0
C0442887 Septal hypertrophy disease Acquired Abnormality 11 10
C0729665 Arteriovenous graft disease Acquired Abnormality 10 2