Source: ALL
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: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		phenotype Finding 5 4 0.100 None 0 1
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 0 1
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		disease Anatomical Abnormality 12 4 0.100 None 0 1
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0 1
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0 1
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease Anatomical Abnormality 13 4 0.100 None 0 1
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 10 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		phenotype Finding 6 2 0.100 None 0 1
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0 1
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0 1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 0 1
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 14 0.100 None 0 1
CUI: C1865038
Disease: Broad toe
Broad toe 		phenotype Finding 11 2 0.100 None 0 1
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0 1
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0 1
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		disease Digestive System Diseases Disease or Syndrome 24 16 0.100 None 0 1
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype Congenital Abnormality 19 2 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0 1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1