CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 26 25
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 24 42
C4540135 PITUITARY ADENOMA 3, MULTIPLE TYPES disease Neoplastic Process 1 6
C1864100 PSEUDOHYPOPARATHYROIDISM, TYPE IB disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism 1 2
C0242292 McCune-Albright Syndrome disease Musculoskeletal Diseases Disease or Syndrome genetic disease 1 8
C2932716 Pseudohypoparathyroidism Type 1C disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism 1 5
C1857451 Acth-Independent Macronodular Adrenal Hyperplasia disease Endocrine System Diseases Disease or Syndrome 1 4
C0334041 Osteoma cutis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the integument 1 3
C0039621 Tetany disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding Abnormality of the musculature 1 1
C0033835 Pseudopseudohypoparathyroidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism 1 11
C3494506 Pseudohypoparathyroidism, Type Ia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism 1 11
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0239479 Round face phenotype Finding Abnormality of head or neck 3 3
C0020598 Hypocalcemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 2 3
C0151811 Subcutaneous nodule phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function Abnormality of the integument 1 1