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.
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
disease Disease or Syndrome 3 4 0.700 5 3 2011 2016
Congenital Disorders of Glycosylation
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 121 13 0.300 strong 3 2011 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2006 2006
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.300 limited 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: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
disease Cardiovascular Diseases Disease or Syndrome 63 4 0.110 1.000 1 2011 2011
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 50 11 0.110 1.000 1 2011 2011
CUI: C1855538
Disease: Small face
Small face
phenotype Finding 10 0.100 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses
phenotype Finding 3 0.100 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 67 1 0.100 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 73 2 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 104 0.100 0
CUI: C0423221
Disease: Globe of eye large
Globe of eye large
phenotype Finding 24 0.100 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 77 5 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 49 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C1833142
Disease: contracture of elbow
contracture of elbow
phenotype Acquired Abnormality 47 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 221 5 0.100 0
CUI: C1855852
Disease: Large eyes
Large eyes
phenotype Finding 11 0.100 0
CUI: C1867446
Disease: Bulging forehead
Bulging forehead
phenotype Finding 104 0.100 0
CUI: C4280611
Disease: Decreased size of teeth
Decreased size of teeth
phenotype Finding 81 0.100 0