CNS disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
319
|
11
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Bart's Hemoglobinopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Prader-Willi-like syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
17
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
disease |
|
Disease or Syndrome
|
3
|
21
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
14
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.500 |
None |
0.942 |
52 |
8
|
2003 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
disease |
|
Disease or Syndrome
|
1
|
65
|
0.700 |
None |
1.000 |
38 |
65
|
2004 |
2019 |
Familial benign neonatal epilepsy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
13
|
0.600 |
strong |
1.000 |
19 |
|
2002 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.200 |
None |
0.944 |
18 |
7
|
2004 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.100 |
None |
1.000 |
13 |
|
2013 |
2019 |
Infantile Severe Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
63
|
32
|
0.400 |
None |
1.000 |
12 |
1
|
2006 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.190 |
None |
1.000 |
9 |
|
2010 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
57
|
43
|
0.090 |
None |
1.000 |
9 |
1
|
2006 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.180 |
None |
1.000 |
8 |
13
|
2013 |
2019 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.360 |
None |
1.000 |
8 |
|
2017 |
2019 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.070 |
None |
1.000 |
7 |
|
2013 |
2019 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.460 |
None |
1.000 |
7 |
3
|
2013 |
2019 |
Early infantile epileptic encephalopathy with suppression bursts
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
10
|
0.360 |
None |
1.000 |
6 |
|
2013 |
2019 |
Pervasive Development Disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
328
|
49
|
0.060 |
None |
1.000 |
6 |
|
2014 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.150 |
None |
1.000 |
5 |
2
|
2014 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.040 |
None |
1.000 |
4 |
1
|
2014 |
2019 |
Episodic Ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
36
|
9
|
0.140 |
None |
1.000 |
4 |
2
|
2010 |
2019 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
2 |
2
|
2019 |
2019 |
Epilepsy of infancy with migrating focal seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Epilepsies, Partial
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.120 |
None |
1.000 |
2 |
2
|
2004 |
2019 |