Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0455829 Waist Circumference phenotype Clinical Attribute 70 183
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
C1843663 Urinary bladder sphincter dysfunction phenotype Finding Abnormality of the genitourinary system 28 1
C1969372 Tubulointerstitial fibrosis phenotype Disease or Syndrome Abnormality of the genitourinary system 328 0
C1969443 Trifunctional Protein Deficiency With Myopathy And Neuropathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 23 34
C0279626 Squamous cell carcinoma of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2053 329
C4553743 Spasticity, CTCAE phenotype Finding 477 0
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
C1854494 Slow progression phenotype Finding 165 0
C0037299 Skin Ulcer phenotype Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 151 1
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306 12
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
C1866934 Reduced tendon reflexes phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 121 8
C0235659 Reduced fetal movement phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 169 17
C0270790 Quadriparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 42 5
C0234132 Pyramidal sign phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 155 10
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C0020541 Portal Hypertension disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the cardiovascular system 167 9
C0393819 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 82 4
C0020224 Polyhydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 208 28
C1849722 Polyglucosan Body Disease, Adult Form disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 7
C1263857 Peripheral axonal neuropathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 94 12
C1276035 Pena-Shokeir syndrome type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease Abnormality of prenatal development or birth 40 21
C0030554 Paresthesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 121 8