Source: CLINVAR

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