Source: CLINVAR ×
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 10 8 1968 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 1.000 4 6 2006 2009
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 3 4 2006 2008
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 35 49 0.100 None 1.000 2 2 2006 2006
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 21 23 0.100 None 1.000 2 1 2006 2006
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 31 39 0.100 None 1.000 2 3 2006 2006
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 23 25 0.100 None 1.000 2 1 2006 2006
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 19 21 0.100 None 1.000 2 1 2006 2006
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 8 9 0.100 None 1.000 2 1 2006 2006
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype Finding 23 25 0.100 None 1.000 2 1 2006 2006
CUI: C1857534
Disease: Postnatal onset growth deficiency
Postnatal onset growth deficiency 		phenotype Finding 1 1 0.100 None 1.000 2 1 2006 2006
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 4 7 0.100 None 1.000 1 4 2008 2008
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 6 6 0.100 None 1.000 1 1 2008 2008
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		disease Disease or Syndrome 1 8 0.700 None 1.000 1 8 2006 2017
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 56 64 0.100 None 0 1
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 14 17 0.100 None 0 2
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 26 29 0.100 None 0 1
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		phenotype Finding 2 2 0.100 None 0 1
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 8 8 0.100 None 0 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 29 30 0.100 None 0 1
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 19 19 0.100 None 0 1
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 11 12 0.100 None 0 1
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 12 15 0.100 None 0 1