CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 25 36
C1963185 Obesity Adverse Event phenotype Finding 5 5
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 4 4
C0683322 Mental impairment disease Mental or Behavioral Dysfunction Abnormality of the nervous system 4 3
C0020598 Hypocalcemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity; disease of metabolism Abnormality of metabolism/homeostasis 1 1
C0151811 Subcutaneous nodule phenotype Pathologic Function Abnormality of the integument 1 1
C0039621 Tetany disease Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity; disease of metabolism Abnormality of the musculature 1 1
C1856468 Round, full face phenotype Finding Abnormality of head or neck 1 1