Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 607 0
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 385 111
C0333463 Senile Plaques disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the nervous system 244 21
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0162810 Cicatrix, Hypertrophic disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 184 3
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 129 14
C2936349 Plaque, Amyloid disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 122 10
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 97 0
C0242621 Isochromosomes phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2
C1262048 Glial scar phenotype Acquired Abnormality 51 0
C0242362 Disk, Herniated disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0
C1297883 Radial scar disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 10 0
C0028790 Cerebral artery occlusion disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality disease of anatomical entity 9 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 18
C0302142 Deformity group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 120 5
C1260954 Morphologically altered structure disease Anatomical Abnormality 46 0
C0158570 Vascular anomaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 45 5
C3278509 Spinal fusion disease Anatomical Abnormality Abnormality of the skeletal system 39 1
C0009918 Contracture of joint disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 35 0
C0398368 Lymphatic Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 29 6
C0679403 Vascular stenosis disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 15 3
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 557 20