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.
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
disease Disease or Syndrome 1 3 0.600 2 3 2017 2017
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 2 2017 2017
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 15 3 0.110 1.000 1 2018 2018
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 82 0.100 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Finding 231 8 0.100 0
Short stature, severe disproportionate
phenotype Finding 12 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 75 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
Delayed ossification of carpal bones
phenotype Finding 7 0.100 0
Hypoplasia of the capital femoral epiphysis
phenotype Finding 11 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1400105
Disease: Hypertrophy of nose
Hypertrophy of nose
phenotype Finding 42 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: C4280648
Disease: Hyperplasia of cheeks
Hyperplasia of cheeks
phenotype Finding 82 0.100 0
CUI: C2748653
Disease: Chubby cheeks
Chubby cheeks
phenotype Finding 82 0.100 0
CUI: C4280647
Disease: Hypertrophy of cheeks
Hypertrophy of cheeks
phenotype Finding 82 0.100 0
CUI: C4280629
Disease: Hyperplasia of nose
Hyperplasia of nose
phenotype Finding 42 0.100 0
CUI: C4280599
Disease: Delayed maturation of wrist bone
Delayed maturation of wrist bone
phenotype Finding 7 0.100 0
Abnormal development of end part of bone
phenotype Finding 20 0.100 0
CUI: C4280495
Disease: Concave bridge of nose
Concave bridge of nose
phenotype Finding 274 0.100 0
Thickened facial skin with coarse facial features
phenotype Finding 150 0.100 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 51 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4020874
Disease: No development of motor milestones
No development of motor milestones
phenotype Finding 228 0.100 0