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 21 5 2002 2016
CUI: C0424492
Disease: Coarse features
Coarse features 		phenotype Finding 2 2 0.100 None 1.000 5 1 2007 2011
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 19 20 0.100 None 1.000 5 1 2007 2011
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 45 62 0.100 None 1.000 3 1 2007 2007
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 0 4
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 35 49 0.100 None 0 2
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 15 16 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 26 29 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.110 None 1.000 0 3 2008 2008
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 4 7 0.100 None 0 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 29 30 0.100 None 0 1
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 2 9 0.100 None 0 1
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 19 19 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 31 39 0.100 None 0 1
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 5 5 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 30 35 0.100 None 0 2
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 13 17 0.100 None 0 1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 26 29 0.100 None 0 1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 37 39 0.100 None 0 1
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 4 10 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 20 23 0.100 None 0 1
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 10 11 0.100 None 0 1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 17 19 0.100 None 0 2
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 7 8 0.100 None 0 1