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.
Cone-shaped epiphyses of the phalanges of the hand
phenotype Finding 20 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype Finding 17 5 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte
phenotype Finding 13 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger
phenotype Finding 37 1 0.100 None 0
CUI: C0239801
Disease: Blonde hair
Blonde hair
phenotype Finding 13 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
phenotype Finding 69 8 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin
phenotype Finding 40 1 0.100 None 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses
phenotype Finding 15 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C1846798
Disease: Cervical subluxation
Cervical subluxation
phenotype Finding 3 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
phenotype Finding 39 3 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis
phenotype Finding 32 1 0.100 None 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.100 None 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing
phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 47 1 0.100 None 0
CUI: C1855205
Disease: Susceptibility to chickenpox
Susceptibility to chickenpox
phenotype Finding 1 0.100 None 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.100 None 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency
phenotype Immune System Diseases Finding 30 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0