Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 29 468
C0751651 Mitochondrial Diseases group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 27 70
C1843156 Progressive sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 17 18
C0042571 Vertigo phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom disease of anatomical entity Abnormality of the ear 13 12
C0162670 Mitochondrial Myopathies group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 7 9
C2751582 Mitochondrial respiratory chain defects phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 3 4
C4021734 Abnormality of mitochondrial metabolism phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 3 3
C1836460 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 4
C3809443 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease; disease of metabolism 1 4
C4310676 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT disease Disease or Syndrome genetic disease; disease of metabolism 1 3