Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023264 Leigh Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 9 21
C4225153 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 24
C0205710 Alpers Syndrome (disorder) disease Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 1 10
C3150914 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) disease Disease or Syndrome genetic disease; disease of metabolism 1 5