Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 limited 0
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 moderate 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 0 1
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 328 21 0.100 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 440 82 0.100 0
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 211 3 0.100 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
disease Musculoskeletal Diseases Disease or Syndrome 43 0.100 0
Other specified types of schizophrenia, unspecified
disease Mental or Behavioral Dysfunction 52 0.200 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.100 0
Elevated circulating parathyroid hormone level
phenotype Finding 17 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C0746926
Disease: Multiple, subcutaneous nodules
Multiple, subcutaneous nodules
disease Disease or Syndrome 64 0.100 0
CUI: C0744333
Disease: Gastrointestinal polyps
Gastrointestinal polyps
phenotype Neoplastic Process 6 0.100 0
CUI: C0553706
Disease: High blood phosphate levels
High blood phosphate levels
phenotype Finding 16 0.100 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 214 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0497247
Disease: Increase in blood pressure
Increase in blood pressure
phenotype Finding 173 14 0.100 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 151 13 0.100 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis
disease Digestive System Diseases Disease or Syndrome 20 1 0.100 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
phenotype Finding 21 0.100 0
Neurogenic muscle atrophy, especially in the lower limbs
phenotype Finding 214 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal
phenotype Finding 8 0.100 0
CUI: C1837385
Disease: Poor growth
Poor growth
phenotype Finding 167 0.100 0