5q14.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Absence Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
89
|
17
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Acute lymphocytic leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1293
|
222
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Acute Undifferentiated Leukemia
|
disease |
|
Neoplastic Process
|
119
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adenocarcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2235
|
168
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
509
|
12
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adult T Acute Lymphoblastic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
102
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Alcoholic Intoxication, Chronic
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
577
|
441
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alzheimer Disease, Late Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
385
|
243
|
0.010 |
None |
< 0.001 |
1 |
|
2016 |
2016 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.050 |
None |
1.000 |
5 |
|
2015 |
2018 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Anaplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
538
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
androgen independent prostate cancer
|
disease |
|
Neoplastic Process
|
190
|
5
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Anti-Mullerian Hormone Measurement
|
phenotype |
|
Laboratory Procedure
|
7
|
9
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Aphasia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
86
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
82
|
136
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
CUI: |
C0236018 |
Disease: |
Aura
|
Aura
|
phenotype |
Nervous System Diseases
|
Finding
|
83
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2018 |
Auriculocondylar syndrome 1
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |