AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
12
|
0.900 |
strong |
0.977 |
43 |
3
|
2000 |
2020 |
AICARDI-GOUTIERES SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
26
|
0.900 |
None |
1.000 |
38 |
26
|
2004 |
2017 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.800 |
strong |
0.967 |
30 |
10
|
2007 |
2020 |
Chilblain lupus 1
|
disease |
Skin and Connective Tissue Diseases; Wounds and Injuries
|
Disease or Syndrome
|
7
|
9
|
0.790 |
strong |
1.000 |
32 |
9
|
2006 |
2017 |
Vasculopathy, Retinal, With Cerebral Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
9
|
0.710 |
None |
1.000 |
28 |
9
|
2006 |
2017 |
Aicardi-Goutieres Syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
19
|
0.500 |
None |
1.000 |
4 |
|
2004 |
2016 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.420 |
strong |
1.000 |
3 |
|
2003 |
2011 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.410 |
strong |
1.000 |
2 |
1
|
2006 |
2015 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
strong |
1.000 |
2 |
2
|
2008 |
2016 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.400 |
limited |
1.000 |
1 |
|
2014 |
2014 |
Retinopathy, CTCAE
|
phenotype |
|
Finding
|
108
|
|
0.400 |
strong |
1.000 |
1 |
|
2006 |
2006 |
Autoinflammatory disorder
|
disease |
|
Disease or Syndrome
|
60
|
4
|
0.310 |
strong |
1.000 |
2 |
|
2015 |
2018 |
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.310 |
None |
1.000 |
2 |
|
2006 |
2007 |
Cerebroretinal vasculopathy
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.310 |
strong |
1.000 |
2 |
|
2003 |
2006 |
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.300 |
None |
1.000 |
3 |
2
|
2004 |
2016 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Influenza
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
858
|
17
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Inflammation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
467
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Pseudo-TORCH syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
3
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Libman-Sacks Disease
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Lupus Erythematosus, Cutaneous
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
7
|
0.210 |
None |
1.000 |
1 |
|
2009 |
2009 |
AICARDI-GOUTIERES SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
7
|
0.200 |
None |
1.000 |
3 |
|
2004 |
2016 |
AICARDI-GOUTIERES SYNDROME 5 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
22
|
0.200 |
None |
1.000 |
3 |
|
2004 |
2016 |
AICARDI-GOUTIERES SYNDROME 6
|
disease |
|
Disease or Syndrome
|
2
|
13
|
0.200 |
None |
1.000 |
3 |
|
2004 |
2016 |