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: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 17 18 0.510 limited 1.000 1 2015 2015
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 440 82 0.110 1.000 1 1 2010 2010
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder)
disease Congenital Abnormality 79 2 0.100 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital Abnormality 279 6 0.100 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
disease Congenital Abnormality 34 1 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
disease Congenital Abnormality 32 0.100 0
CUI: C0554972
Disease: Large auricle
Large auricle
phenotype Finding 133 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Finding 67 1 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 238 16 0.100 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 0
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 335 923 0.100 1 1 2012 2012
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 133 0.100 0
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 403 20 0.100 0
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
phenotype Musculoskeletal Diseases Finding 407 11 0.100 0
CUI: C4280612
Disease: Decreased width of tooth
Decreased width of tooth
phenotype Finding 76 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C1305420
Disease: Prominent ear
Prominent ear
phenotype Congenital Abnormality 79 0.100 0
CUI: C4280611
Disease: Decreased size of teeth
Decreased size of teeth
phenotype Finding 81 0.100 0
CUI: C4280585
Disease: Hypoplasia of columella
Hypoplasia of columella
phenotype Finding 12 0.100 0
CUI: C4020849
Disease: Bowed and upward slanting eyebrows
Bowed and upward slanting eyebrows
phenotype Finding 68 0.100 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype Finding 113 1 0.100 0