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: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
phenotype Finding 69 8 0.100 None 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat
phenotype Finding 11 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding)
phenotype Sign or Symptom 8 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
Abnormality of amino acid metabolism
phenotype Finding 8 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia
phenotype Finding 20 2 0.100 None 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples
phenotype Finding 9 2 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies
phenotype Finding 12 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 59 2 0.100 None 0
CUI: C1843392
Disease: Death in childhood
Death in childhood
phenotype Finding 25 2 0.100 None 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth
phenotype Finding 14 0.100 None 0