Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3279992 PARAGANGLIOMAS 5 disease Disease or Syndrome genetic disease; disease of anatomical entity; disease of cellular proliferation 1 39
C3150898 CARDIOMYOPATHY, DILATED, 1GG disease Disease or Syndrome genetic disease; disease of anatomical entity 1 2
C0423640 Right Flank Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0
C0334416 Parasympathetic paraganglioma disease Neoplasms Neoplastic Process 2 0
C0375362 Peritoneal adhesions (postoperative) (postinfection) disease Disease or Syndrome 2 0
C3203483 Pulmonary chondroma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process Neoplasm; Abnormality of the respiratory system 3 6
C4025278 Stress/infection-induced lactic acidosis disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 4 0
C4476644 Segmental myoclonic seizures phenotype Sign or Symptom Abnormality of the nervous system 5 0
C4024705 Decreased activity of mitochondrial complex II phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 7 2
C1855010 Progressive leukoencephalopathy phenotype Nervous System Diseases Finding Abnormality of the nervous system 7 0
C4025244 Abnormal atrioventricular conduction phenotype Pathologic Function Abnormality of the cardiovascular system 7 0
C1855008 Mitochondrial Complex II Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 8 45
C0342777 Succinate-coenzyme Q reductase deficiency disease Disease or Syndrome 8 6
C1533592 Malignant Paraganglionic Neoplasm disease Neoplasms Neoplastic Process 8 3
C1847973 Persistent Polyclonal B-Cell Lymphocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0
C0345832 Neoplasm of small intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 9 0
C0751267 Encephalopathy, Subacute Necrotizing, Infantile disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 9 0
C0751268 Encephalopathy, Subacute Necrotizing, Juvenile disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 0
C1856565 Progressive psychomotor deterioration phenotype Finding Abnormality of the nervous system 11 2
C1836806 Mild microcephaly phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 12 5
C0030422 Extra-Adrenal Paraganglioma disease Neoplasms Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation 12 0
C0240116 Hyperactive patellar reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 14 3
C1866284 Motor deterioration phenotype Mental Disorders Finding Abnormality of the nervous system 14 1
C1387805 Episodic paroxysmal anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 14 0
C1868393 Elevated urinary epinephrine phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 14 0