Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 37 211
C0543888 Epileptic encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 37 94
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 37 49
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 37 43
C0037317 Sleep disturbances phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 37 41
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0008780 Ciliary Motility Disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the respiratory system 36 402
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 36 46
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 35 47
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 35 45
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 34 314
C0037772 Spastic Paraplegia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the musculature 34 81
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 34 42
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 33 50
C0014877 Esotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 33 38
C0009691 Congenital cataract disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 32 61
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 32 41
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 32 36
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 31 216
C0376532 Epilepsy, Rolandic disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 31 75
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 31 40