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
C1849265 Overgrowth phenotype Finding Growth abnormality 81 93
C4551982 TRICHOHEPATOENTERIC SYNDROME 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 2 9
C1859317 Cataract and cardiomyopathy disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 1 14
C3553494 CATARACT 38 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 1