CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1843057 Calf muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 46 5
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 384 34
C1866010 Proximal muscle weakness in lower limbs phenotype Finding Abnormality of limbs; Abnormality of the musculature 30 4