Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1832855 CHOREOATHETOSIS/SPASTICITY, EPISODIC disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1837206 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1
C1842534 DYSTONIA 18 (disorder) disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C3553859 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 disease Finding disease of anatomical entity 1
C1847501 Glut1 Deficiency Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C4551966 GLUT1 DEFICIENCY SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C3149117 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE disease Disease or Syndrome 1
C0598121 Hypoglycorrhachia phenotype Finding Abnormality of the nervous system 1
C1847507 Paroxysmal lethargy phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 1
C0391870 Abnormality of red blood cells group Hemic and Lymphatic Diseases Finding Abnormality of blood and blood-forming tissues 2
C4025593 Increased intracellular sodium phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 2
C4321245 Cleft lip or lips phenotype Anatomical Abnormality Abnormality of head or neck 3
C1837246 Intracerebral periventricular calcifications phenotype Finding Abnormality of the nervous system; Abnormality of the skeletal system 5
C0014553 Absence Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 6
C0266617 Congenital anomaly of face group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck 6
C4023685 EEG with spike-wave complexes (2.5-3.5 Hz) phenotype Finding Abnormality of the nervous system 6
C1848528 Extrapyramidal dyskinesia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 6
C1963933 Punding disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 6
C4022771 Decreased thalamic volume phenotype Finding Abnormality of the nervous system 7
C0752210 Dyskinesias, Paroxysmal disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 7
C4025184 Spontaneous hemolytic crises disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 7
C1854686 Uncontrolled eye movements phenotype Finding Abnormality of the eye 7
C4022908 Cerebral white matter hypoplasia phenotype Finding Abnormality of the nervous system 8
C0013423 Dystonia Musculorum Deformans disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 9
C0393588 Dystonia, Paroxysmal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 9