Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 120
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 73
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 10
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 4
C0037771 Paraparesis, Spastic phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 3
C4317123 Myoclonic Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 3
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 2
C0040822 Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 2
C0684219 Myokymia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 2
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 1
C0039070 Syncope phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the cardiovascular system 1
C0042963 Vomiting phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system 1
C0231918 Nose symptoms phenotype Sign or Symptom 1
C0234133 Extrapyramidal sign phenotype Sign or Symptom Abnormality of the nervous system 1
C0234166 Hyperexplexia phenotype Nervous System Diseases Sign or Symptom genetic disease; disease of anatomical entity Abnormality of the nervous system 1
C0270790 Quadriparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 1
C0393588 Dystonia, Paroxysmal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 1
C0427086 Involuntary Movements phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 1
C1260880 Rhinorrhea phenotype Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom Abnormality of the respiratory system 1
C3714772 Recurrent fevers phenotype Sign or Symptom disease by infectious agent 1
C4048158 Convulsions phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1
C1458140 Bleeding tendency phenotype Hemic and Lymphatic Diseases Pathologic Function disease of anatomical entity Abnormality of blood and blood-forming tissues 7
C0017181 Gastrointestinal Hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 5
C0553692 Brain hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 5
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 5