Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4553743 Spasticity, CTCAE phenotype Finding 477 0
C1969372 Tubulointerstitial fibrosis phenotype Disease or Syndrome Abnormality of the genitourinary system 328 0
C4551915 Gait Disturbance, CTCAE phenotype Finding 299 0
C1854494 Slow progression phenotype Finding 165 0
C1856303 GSD IV, Neuromuscular Form, Fatal Perinatal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 0
C1856309 Fetal hydrops (in perinatal or congenital neuromuscular forms) phenotype Finding 1 0
C0037299 Skin Ulcer phenotype Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 151 1
C0013604 Edema phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of metabolism/homeostasis 126 1
C1843663 Urinary bladder sphincter dysfunction phenotype Finding Abnormality of the genitourinary system 28 1
C4025723 Abnormal upper motor neuron morphology disease Anatomical Abnormality Abnormality of the nervous system 20 1
C1856305 GSD IV, Neuromuscular Form, Childhood disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C4017116 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC phenotype Finding 1 1
C4017114 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC phenotype Finding 1 2
C4017117 GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR phenotype Finding 1 2
C1857108 Limitation of joint mobility phenotype Finding Abnormality of the skeletal system 84 3
C0085623 Akinesia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 43 3
C0393819 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 82 4
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 171 5
C1847584 Distal sensory impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 86 5
C0014867 Esophageal Varices disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 56 5
C0270790 Quadriparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 42 5
C4017118 ADULT POLYGLUCOSAN BODY NEUROPATHY disease Finding 1 5
C0018989 Hemiparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 91 6
C0270971 Floppy infant syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 31 6
C0795956 Chylomicron retention disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10 6