CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 88 257
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 25 28
C1837084 Short metacarpal phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 5 7
C4551560 Truncal obesity phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding Growth abnormality 4 4