Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
0.909 |
22 |
|
2002 |
2019 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.100 |
None |
0.944 |
18 |
|
1996 |
2008 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.100 |
None |
1.000 |
14 |
|
2002 |
2016 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.460 |
None |
1.000 |
8 |
|
2002 |
2015 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.070 |
None |
1.000 |
7 |
|
2006 |
2013 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.160 |
None |
1.000 |
6 |
|
2004 |
2017 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.050 |
None |
1.000 |
5 |
|
2009 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.150 |
None |
1.000 |
5 |
|
2007 |
2014 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.050 |
None |
1.000 |
5 |
|
2010 |
2018 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.050 |
None |
1.000 |
5 |
|
2002 |
2011 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.050 |
None |
1.000 |
5 |
|
2016 |
2019 |
RUSSELL-SILVER SYNDROME, X-LINKED
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
|
0.040 |
None |
1.000 |
4 |
|
1996 |
2015 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.140 |
None |
1.000 |
4 |
|
2005 |
2014 |
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2016 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.130 |
None |
0.667 |
3 |
|
2010 |
2013 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2016 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2013 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.320 |
None |
0.667 |
3 |
|
1999 |
2006 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2010 |
SHORT STATURE, IDIOPATHIC, X-LINKED
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
18
|
8
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2009 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2019 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.300 |
None |
1.000 |
2 |
|
2002 |
2009 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.120 |
None |
1.000 |
2 |
|
2005 |
2008 |
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2013 |
Neuroendocrine Tumors
|
group |
Neoplasms
|
Neoplastic Process
|
491
|
20
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |