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: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 2 2 2016 2019
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		phenotype Finding 53 2 0.100 None 0
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 211 25 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 3 0.100 None 0
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		phenotype Finding 12 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Congenital Abnormality 8 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease Eye Diseases Disease or Syndrome 42 3 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0