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
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C1263846 Attention deficit hyperactivity disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 39 51
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
C0424605 Developmental delay (disorder) phenotype Mental Disorders Mental or Behavioral Dysfunction 26 31
C0002418 Amblyopia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 17 22
C0162666 Mitochondrial Encephalomyopathies disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 9 10
C1848207 Poor speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 9 9
C0424551 Impaired exercise tolerance phenotype Finding Abnormality of the musculature 4 7
C2677650 Decreased activity of mitochondrial complex I phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 3 3
C2751584 Neurodegeneration Due To Cerebral Folate Transport Deficiency phenotype Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the nervous system 2 5
C1859200 Inability to walk by childhood/adolescence phenotype Finding Abnormality of the nervous system 2 2
C3554182 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 disease Disease or Syndrome genetic disease; disease of metabolism 1 11
C4748826 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 disease Disease or Syndrome 1 2
C4021724 Cytochrome C oxidase-negative muscle fibers phenotype Finding Abnormality of the musculature 1 1
C4013993 Bilateral striatal necrosis phenotype Finding 1 1
C4318382 Cardiac Conduction Defects phenotype Cardiovascular Diseases Pathologic Function 1 1