Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
228
|
54
|
1.000 |
definitive |
0.977 |
726 |
35
|
1975 |
2020 |
Lubs X-linked mental retardation syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
11
|
|
0.800 |
strong |
1.000 |
27 |
|
1999 |
2019 |
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.720 |
strong |
1.000 |
2 |
|
1975 |
2018 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5541
|
769
|
0.540 |
None |
1.000 |
4 |
|
2001 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1219
|
153
|
0.500 |
None |
0.963 |
75 |
10
|
2000 |
2020 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
864
|
217
|
0.500 |
None |
0.919 |
61 |
|
2000 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
1052
|
139
|
0.500 |
None |
0.923 |
18 |
6
|
2000 |
2019 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1686
|
635
|
0.500 |
None |
1.000 |
13 |
6
|
2008 |
2018 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
90
|
|
0.500 |
strong |
0.917 |
12 |
|
2001 |
2014 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
177
|
13
|
0.420 |
None |
1.000 |
2 |
|
2006 |
2012 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
485
|
10
|
0.400 |
None |
0.993 |
139 |
|
2000 |
2020 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1124
|
250
|
0.400 |
None |
0.818 |
20 |
9
|
2005 |
2020 |
Pervasive Development Disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
328
|
49
|
0.400 |
None |
1.000 |
15 |
1
|
2002 |
2019 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
331
|
18
|
0.380 |
None |
1.000 |
8 |
|
2003 |
2019 |
Learning Disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
76
|
3
|
0.370 |
None |
1.000 |
7 |
|
2000 |
2016 |
Anxiety Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
807
|
144
|
0.340 |
None |
1.000 |
4 |
|
2012 |
2018 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
26
|
|
0.320 |
None |
1.000 |
2 |
|
2001 |
2003 |
Ppm-X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.320 |
None |
1.000 |
2 |
|
2002 |
2016 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
856
|
25
|
0.320 |
None |
1.000 |
2 |
|
2011 |
2017 |
Epileptic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
166
|
7
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2011 |
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2012 |
Cocaine Dependence
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
110
|
35
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2016 |
Convulsions
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
83
|
3
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2010 |
Attention Deficit Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
91
|
7
|
0.210 |
None |
1.000 |
1 |
|
2008 |
2009 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
493
|
62
|
0.200 |
None |
0.957 |
47 |
8
|
2000 |
2013 |