Shprintzen syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
46
3
0.300
None
1.000
1
2015
2015
Asymmetric crying face association
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
Disease or Syndrome
25
2
0.300
None
1.000
1
2015
2015
CONOTRUNCAL ANOMALY FACE SYNDROME
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
18
0.300
None
1.000
1
2015
2015
22q11 Deletion Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
31
2
0.300
None
1.000
1
2015
2015
DiGeorge Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
111
7
0.300
None
1.000
1
2015
2015
22q11 partial monosomy syndrome
disease
Disease or Syndrome
12
0.300
None
1.000
1
2015
2015
Diabetes Mellitus, Non-Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
3134
2672
0.110
None
1.000
4
3
2014
2019
Kidney Failure, Chronic
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
827
425
0.110
None
1.000
2
3
2014
2018
Parkinson Disease
disease
Nervous System Diseases
Disease or Syndrome
2078
990
0.110
None
1.000
2
1
2006
2019
Waist-Hip Ratio
phenotype
Organism Attribute
565
1138
0.100
None
1.000
3
3
2013
2019
Body Height
phenotype
Organism Attribute
1903
3972
0.100
None
1.000
3
1
2017
2019
Glomerular Filtration Rate
phenotype
Diagnostic Procedure
399
1033
0.100
None
1.000
3
4
2018
2019
Fasting blood glucose measurement
phenotype
Laboratory Procedure
96
212
0.100
None
1.000
3
4
2012
2015
Red Blood Cell Count measurement
phenotype
Laboratory Procedure
717
1599
0.100
None
1.000
2
1
2016
2019
×
CUI:
C0018099
Disease:
Gout
Gout
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
205
2354
0.100
None
1.000
2
13
2010
2013
White Blood Cell Count procedure
phenotype
Laboratory Procedure
681
1322
0.100
None
1.000
2
2
2016
2019
Uric acid measurement (procedure)
phenotype
Laboratory Procedure
264
1463
0.100
None
1.000
2
3
2018
2019
Arthritis, Gouty
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
206
2356
0.100
None
1.000
2
13
2010
2013
Chronic Obstructive Airway Disease
disease
Respiratory Tract Diseases
Disease or Syndrome
1428
852
0.100
None
1.000
1
1
2019
2019
Blood basophil count (lab test)
phenotype
Laboratory Procedure
272
452
0.100
None
1.000
1
1
2016
2016
Lymphocyte Count measurement
phenotype
Laboratory Procedure
338
456
0.100
None
1.000
1
1
2016
2016
Neutrophil count (procedure)
phenotype
Laboratory Procedure
145
234
0.100
None
1.000
1
1
2016
2016
Fasting blood sugar result
phenotype
Laboratory or Test Result
65
113
0.100
None
1.000
1
2
2012
2012
Body mass index
phenotype
Clinical Attribute
1014
2689
0.100
None
1.000
1
2
2012
2012
Chronic Lymphocytic Leukemia
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
1447
291
0.100
None
1.000
1
1
2019
2019