Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 878 124
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0162810 Cicatrix, Hypertrophic disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3
C0332853 Anastomosis disease Acquired Abnormality 155 2
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 149 6
C0036646 Age-related cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 92 15
C1262048 Glial scar phenotype Acquired Abnormality 51 0
C0333293 Healing ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1
C0442887 Septal hypertrophy disease Acquired Abnormality 12 11
C0549357 Abdominal adhesions disease Digestive System Diseases Acquired Abnormality 6 0
C0151465 Renal abscess disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Acquired Abnormality 2 0
C0302142 Deformity group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26
C0009917 Contracture disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 111 12
C4020732 Mitochondrial abnormalities disease Anatomical Abnormality Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 83 20
C0158570 Vascular anomaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5
C1510420 Cavitation disease Anatomical Abnormality 47 0
C0009918 Contracture of joint disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 36 0
C0206740 Calcifying Odontogenic Cyst disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 15 1
C1265736 Orthokeratinized odontogenic cyst disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 3 0
C1449861 Micronuclei, Chromosome-Defective phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0
C1449862 Micronuclei, Genotoxicant-Induced phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 615 45
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 559 48