Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 218 417
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133 505
C0751651 Mitochondrial Diseases group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 49 70
C0205710 Alpers Syndrome (disorder) disease Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 2 128
C4551995 Mitochondrial DNA Depletion Syndrome 1 disease Disease or Syndrome genetic disease; disease of metabolism 2 78
C4225153 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 27
C3150914 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) disease Disease or Syndrome genetic disease; disease of metabolism 1 17