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.
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
disease Disease or Syndrome 1 8 0.700 4 8 2015 2016
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 0.310 strong 1.000 3 2015 2016
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.300 0
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 933 288 0.300 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 7 1 2008 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 459 34 0.100 1 1 2015 2015
CUI: C3150353
Disease: Ventral septal defect (VSD)
Ventral septal defect (VSD)
phenotype Finding 1 1 0.100 1 1 2015 2015
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 1 1 2015 2015
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 1 1 2015 2015
CUI: C4020860
Disease: Supratentorial atrophy
Supratentorial atrophy
disease Disease or Syndrome 142 1 0.100 0
CUI: C1850072
Disease: Tented upper lip
Tented upper lip
phenotype Finding 37 0.100 0
CUI: C1853383
Disease: Tented mouth
Tented mouth
phenotype Finding 37 0.100 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 84 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype Finding 83 0.100 0
Abnormality of the periventricular white matter
phenotype Anatomical Abnormality 18 0.100 0
CUI: C4230640
Disease: Convex nasal bridge
Convex nasal bridge
phenotype Finding 84 0.100 0
Thickened facial skin with coarse facial features
phenotype Finding 150 0.100 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia
phenotype Finding 1 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 233 19 0.100 0
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder
group Disease or Syndrome 166 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0