Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 39 44
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 29 57
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 28 74
C0751651 Mitochondrial Diseases group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 27 70
C0162671 MELAS Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 21 46
C0268237 Cytochrome-c Oxidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of metabolism 19 36
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 7 14
C0162672 MERRF Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 7 13
C3151970 MERRF/MELAS OVERLAP SYNDROME disease Disease or Syndrome 5 5
C3495438 Macular Degeneration, Age-Related, 2 disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 18
C0342289 Diabetes-deafness syndrome maternally transmitted (disorder) disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 3
C0152164 Cyclical vomiting syndrome (disorder) disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 1
C1838818 MUSCLE STIFFNESS, PAINFUL phenotype Finding 1 1
C0271650 Impaired glucose tolerance phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 1 1