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.
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 3 0.700 2 3 2007 2012
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.400 1 2012 2012
CUI: C0016658
Disease: Fracture
Fracture
group Wounds and Injuries Injury or Poisoning 14 1 0.300 1 2012 2012
CUI: C0022904
Disease: Lacrimal Apparatus Diseases
Lacrimal Apparatus Diseases
group Eye Diseases Disease or Syndrome 1 0.300 1 2012 2012
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 392 18 0.300 1 2011 2011
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 268 48 0.300 1 2012 2012
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
disease Eye Diseases Disease or Syndrome 14 0.300 1 2012 2012
Microcytic hypochromic anemia (disorder)
disease Hemic and Lymphatic Diseases Disease or Syndrome 20 2 0.300 1 2012 2012
CUI: C0332712
Disease: Fracture, spiral
Fracture, spiral
disease Wounds and Injuries Injury or Poisoning 13 0.300 1 2012 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2012 2012
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 0.300 1 2012 2012
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 120 10 0.300 1 2012 2012
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 0.300 1 2012 2012
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.300 limited 1 2012 2012
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 6 0.300 1 2012 2012
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.300 1 2012 2012
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 6 5 0.300 1 2012 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C4072823
Disease: Broad cranium shape
Broad cranium shape
phenotype Finding 120 0.100 0
CUI: C4072824
Disease: Wide skull shape
Wide skull shape
phenotype Finding 120 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
phenotype Finding 149 0.100 0