Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0085623 Akinesia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 43 3
C0029438 Massive Osteolyses disease Musculoskeletal Diseases Disease or Syndrome 44 11
C0342751 Generalized glycogen storage disease of infants disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 51 16
C0017495 Gerstmann-Straussler-Scheinker Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome disease of anatomical entity 56 39
C0014867 Esophageal Varices disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 56 5
C0017919 Glycogen Storage Disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 63 16
C0270960 Congenital myopathy (disorder) group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 63 10
C0268237 Cytochrome-c Oxidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of metabolism 65 44
C0455829 Waist Circumference phenotype Clinical Attribute 70 183
C0948163 Leukoaraiosis phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 72 24
C0393819 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 82 4
C1857108 Limitation of joint mobility phenotype Finding Abnormality of the skeletal system 84 3
C1847584 Distal sensory impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 86 5
C0018989 Hemiparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 91 6
C0020305 Hydrops Fetalis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth 92 14
C1263857 Peripheral axonal neuropathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 94 12
C0234133 Extrapyramidal sign phenotype Sign or Symptom Abnormality of the nervous system 116 7
C0030554 Paresthesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 121 8
C1866934 Reduced tendon reflexes phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 121 8
C0013604 Edema phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of metabolism/homeostasis 126 1
C0019214 Hepatosplenomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 127 21
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 130 12
C0037772 Spastic Paraplegia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the musculature 144 93
C0042024 Urinary Incontinence phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function Constitutional symptom; Abnormality of the genitourinary system 151 14
C0037299 Skin Ulcer phenotype Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 151 1