NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
19
28
0.800
strong
1.000
35
28
2012
2020
Neurodegeneration with brain iron accumulation (NBIA)
disease
Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
40
2
0.600
strong
1.000
15
2012
2020
Dystonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
453
97
0.420
strong
1.000
4
2012
2015
Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
1215
339
0.330
None
1.000
4
2017
2019
West Syndrome
disease
Nervous System Diseases
Disease or Syndrome
149
28
0.320
None
1.000
2
2016
2017
Neurodevelopmental Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
535
14
0.300
None
1.000
2
2017
2018
Heart Failure, Diastolic
disease
Cardiovascular Diseases
Disease or Syndrome
55
9
0.300
None
1.000
1
2018
2018
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2018
2018
Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2018
2018
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2018
2018
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.160
None
1.000
6
2
2015
2020
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.140
None
1.000
7
3
2012
2018
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.130
None
1.000
3
2013
2015
Dementia
disease
Nervous System Diseases; Mental Disorders
Mental or Behavioral Dysfunction
816
176
0.120
None
1.000
2
2016
2019
Infantile Spasm
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
93
39
0.110
None
1.000
1
1
2017
2017
Cerebral atrophy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
454
44
0.110
None
1.000
1
2017
2017
Parkinsonian Disorders
group
Nervous System Diseases
Disease or Syndrome
373
95
0.110
None
1.000
1
2016
2016
Movement Disorders
group
Nervous System Diseases
Disease or Syndrome
362
247
0.100
None
1.000
10
1
2010
2017
Overgrowth
phenotype
Finding
103
93
0.100
None
1.000
10
1
2010
2017
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
10
2
2010
2017
Dysmorphic features
disease
Congenital Abnormality
439
617
0.100
None
1.000
10
3
2010
2017
Multiple congenital anomalies
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
251
350
0.100
None
1.000
10
1
2010
2017
Asymptomatic
phenotype
Finding
2
1
0.100
None
1.000
3
1
2012
2013
Poor school performance
phenotype
Finding
211
411
0.100
None
1.000
3
2
2012
2013
X-linked cerebral, cerebellar, coloboma syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Disease or Syndrome
1
2
0.100
None
1.000
1
2
2012
2012