Donnai-Barrow syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
18
|
0.960 |
strong |
1.000 |
9 |
18
|
2003 |
2018 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
9 |
10
|
2016 |
2019 |
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
5 |
6
|
2010 |
2019 |
Creatinine measurement, serum (procedure)
|
phenotype |
|
Laboratory Procedure
|
124
|
243
|
0.100 |
None |
1.000 |
4 |
4
|
2016 |
2018 |
Cognitive changes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
50
|
15
|
0.020 |
None |
1.000 |
2 |
3
|
2012 |
2017 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.030 |
None |
1.000 |
3 |
2
|
2016 |
2018 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.020 |
None |
0.500 |
2 |
2
|
2017 |
2018 |
Hyperuricemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
196
|
76
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Acute Chest Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
405
|
135
|
0.010 |
None |
1.000 |
1 |
2
|
2020 |
2020 |
Acute Coronary Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
440
|
139
|
0.010 |
None |
1.000 |
1 |
2
|
2020 |
2020 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.010 |
None |
< 0.001 |
1 |
2
|
2008 |
2008 |
Dyslipidemias
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
471
|
184
|
0.010 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
|
0 |
2
|
|
|
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.080 |
None |
1.000 |
8 |
1
|
2001 |
2020 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.050 |
None |
1.000 |
5 |
1
|
2017 |
2019 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.310 |
None |
1.000 |
3 |
1
|
2004 |
2018 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.020 |
None |
1.000 |
2 |
1
|
2013 |
2015 |
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.120 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Metabolic Syndrome X
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1125
|
591
|
0.020 |
None |
1.000 |
2 |
1
|
2015 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
strong |
1.000 |
2 |
1
|
2012 |
2016 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2018 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.020 |
None |
1.000 |
2 |
1
|
2013 |
2015 |
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |