Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2919945 Cavernous Hemangioma of Brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity 127 43
C0003855 Arteriovenous fistula phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 93 8
C3278509 Spinal fusion disease Anatomical Abnormality Abnormality of the skeletal system 67 2
C1389016 ATRIOVENTRICULAR CANAL DEFECT disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the cardiovascular system 55 14
C0021846 Intestinal Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the digestive system; Neoplasm 48 1
C0158570 Vascular anomaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5
C1510420 Cavitation disease Anatomical Abnormality 47 0
C1260954 Morphologically altered structure disease Anatomical Abnormality 46 0
C0752156 Dural Arteriovenous Fistula disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 17 2
C3844293 Oval fat body phenotype Anatomical Abnormality 7 0
C2748203 Vitreomacular adhesion phenotype Anatomical Abnormality Abnormality of the eye 6 0
C4703391 Choroidal vascular hyperpermeability phenotype Anatomical Abnormality Abnormality of the eye 5 3
C0399553 Mandibular deviation phenotype Anatomical Abnormality 1 0
C0027746 Nerve Degeneration phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction Abnormality of the nervous system 165 17
C0025568 Metaplasia phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 52 0
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 1064 27
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
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
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 510 56
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 426 87
C0018798 Congenital Heart Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 406 58
C0282160 Aplasia Cutis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument 393 14
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 384 96