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: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0 1
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0 1
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		disease Anatomical Abnormality 32 4 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.100 None 0 1
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 0 1
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
recurrent muscle twitches (symptom) 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 26 7 0.100 None 0 2
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0 3
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 0 1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0 6
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0 1
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		disease Mental or Behavioral Dysfunction 5 7 0.100 None 0 7
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding 12 6 0.100 None 0 1
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		phenotype Anatomical Abnormality 6 4 0.100 None 0 1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype Finding 39 24 0.100 None 0 10
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 4
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0 5
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 141 14 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 3
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0 3