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: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia
phenotype Finding 16 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 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: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.100 None 0
Disproportionate short-limb short stature
phenotype Finding 35 5 0.100 None 0
CUI: C1849293
Disease: Advanced tarsal ossification
Advanced tarsal ossification
phenotype Finding 4 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae
phenotype Finding 18 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping
phenotype Finding 10 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen
phenotype Finding 25 2 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 42 19 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly
phenotype Finding 5 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype Finding 42 1 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 64 4 0.100 None 0