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: C0239399
Disease: Short extremities
Short extremities
phenotype Congenital Abnormality 38 10 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0581342
Disease: Redundant skin
Redundant skin
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
phenotype Finding 50 11 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
Avascular necrosis of the capital femoral epiphysis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth
phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1857021
Disease: Spontaneous neonatal pneumothorax
Spontaneous neonatal pneumothorax
phenotype Respiratory Tract Diseases Finding 2 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0019572
Disease: Hirsutism
Hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 88 17 0.100 None 0
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function 50 2 0.100 None 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin
phenotype Anatomical Abnormality 25 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0