Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0751110 Single Seizure disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0751123 Atonic Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0751494 Convulsive Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0
C0751496 Seizures, Sensory phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0
C3495874 Nonepileptic Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C4317109 Epileptic Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C4505436 Generalized Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0020542 Pulmonary Hypertension phenotype Respiratory Tract Diseases Pathologic Function disease of anatomical entity 40 0
C0598589 Inherited neuropathies disease Nervous System Diseases Disease or Syndrome 40 0
C0018273 Growth Disorders group Pathological Conditions, Signs and Symptoms Pathologic Function 36 0
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 34 16
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 25 17
C0019189 Hepatitis, Chronic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 22 0
C0149519 Chronic Persistent Hepatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 22 0
C0520463 Chronic active hepatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 22 0
C0524611 Cryptogenic Chronic Hepatitis disease Digestive System Diseases Disease or Syndrome 22 0
C0026654 Moyamoya Disease disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 17 30
C0427190 Ataxia, Truncal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 16 13
C0750937 Ataxia, Appendicular phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 16 5
C0520966 Abnormal coordination phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 16 4
C0240991 Ataxia, Sensory phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 16 1
C0278161 Ataxia, Motor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0
C0750940 Tremor, Rubral disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 16 0
C0040822 Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 11 21
C0234378 Static Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 9 3