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: C4015710
Disease: TENORIO SYNDROME
TENORIO SYNDROME
disease Disease or Syndrome 1 3 0.600 1 3 2015 2015
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 0.400 strong 1 2015 2015
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 252 7 0.400 strong 1 2015 2015
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 139 4 0.100 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 73 2 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C1839783
Disease: Large forehead
Large forehead
phenotype Finding 6 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Finding 194 2 0.100 0
Delayed speech and language development
phenotype Finding 219 39 0.100 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 66 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 95 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
mandibular excess (physical finding)
phenotype Finding 101 0.100 0
CUI: C4280664
Disease: Big calvaria
Big calvaria
phenotype Finding 212 0.100 0
CUI: C4280645
Disease: Hypertrophy of lower jaw
Hypertrophy of lower jaw
phenotype Finding 101 0.100 0
CUI: C4280644
Disease: Increased size of the mandible
Increased size of the mandible
phenotype Finding 103 0.100 0
CUI: C4280584
Disease: Hyperplasia of forehead
Hyperplasia of forehead
phenotype Finding 6 0.100 0
CUI: C4280583
Disease: Hypertrophy of forehead
Hypertrophy of forehead
phenotype Finding 6 0.100 0
CUI: C4255213
Disease: Increased size of skull
Increased size of skull
phenotype Finding 212 0.100 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference
phenotype Finding 214 0.100 0