Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.300 |
None |
0.991 |
109 |
|
1996 |
2020 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.100 |
None |
0.990 |
100 |
|
1996 |
2020 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.100 |
None |
1.000 |
38 |
|
2005 |
2020 |
DOWN SYNDROME CRITICAL REGION
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
|
0.100 |
None |
1.000 |
19 |
|
1996 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
18 |
7
|
1990 |
2016 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
1.000 |
14 |
|
2001 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.500 |
strong |
1.000 |
13 |
|
1999 |
2019 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
disease |
|
Disease or Syndrome
|
1
|
39
|
0.600 |
None |
1.000 |
13 |
39
|
2012 |
2017 |
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
|
505
|
98
|
0.200 |
None |
1.000 |
11 |
2
|
1997 |
2019 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.070 |
None |
1.000 |
7 |
|
2012 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.050 |
None |
1.000 |
5 |
|
2015 |
2019 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.050 |
None |
0.800 |
5 |
|
2011 |
2019 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.050 |
None |
0.800 |
5 |
|
2011 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.140 |
None |
1.000 |
5 |
10
|
2002 |
2016 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.050 |
None |
1.000 |
5 |
|
2012 |
2018 |
Partial Trisomy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
29
|
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2012 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.020 |
None |
0.500 |
2 |
|
2010 |
2014 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.310 |
None |
1.000 |
2 |
|
2012 |
2018 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Acute Megakaryocytic Leukemias
|
disease |
Neoplasms
|
Neoplastic Process
|
159
|
15
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2012 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2015 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |