AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
12
|
0.100 |
None |
1.000 |
4 |
1
|
2007 |
2013 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
2 |
11
|
2009 |
2018 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
2 |
1
|
2009 |
2017 |
Monocyte count procedure
|
phenotype |
|
Laboratory Procedure
|
139
|
296
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
3
|
2018 |
2018 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Monocyte count result
|
phenotype |
|
Laboratory or Test Result
|
139
|
296
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Reticulocyte count (procedure)
|
phenotype |
|
Laboratory Procedure
|
234
|
474
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
AICARDI-GOUTIERES SYNDROME 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
13
|
0.100 |
None |
1.000 |
1 |
13
|
2013 |
2013 |
Corpuscular Hemoglobin Concentration Mean
|
phenotype |
|
Laboratory or Test Result
|
401
|
4389
|
0.100 |
None |
1.000 |
1 |
13
|
2012 |
2012 |
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.100 |
None |
|
0 |
4
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
1
|
|
|
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.100 |
None |
|
0 |
1
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
1
|
|
|
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2018 |
Malignant Head and Neck Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
767
|
118
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |