Bardet-Biedl Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Disease or Syndrome
86
163
0.330
None
1.000
3
2015
2019
Ciliopathies
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
241
7
0.030
None
1.000
3
2015
2018
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
10
2010
2013
Retinitis Pigmentosa
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Disease or Syndrome
546
541
0.410
None
1.000
2
2015
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
10
2010
2013
Endocardial Cushion Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
71
4
0.210
None
1.000
2
2010
2011
Atrioventricular Septal Defect
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
58
19
0.010
None
1.000
1
2011
2011
VATER Association
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
Disease or Syndrome
12
0.200
None
1.000
1
2011
2011
Blindness
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
393
34
0.110
None
1.000
1
2018
2018
Fasting blood sugar result
phenotype
Laboratory or Test Result
65
113
0.100
None
1.000
1
1
2012
2012
VACTERL Association With Hydrocephalus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
5
7
0.010
None
1.000
1
2011
2011
Gastrointestinal Stromal Tumors
group
Digestive System Diseases; Neoplasms
Neoplastic Process
538
154
0.300
None
1.000
1
2016
2016
Familial aplasia of the vermis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
Disease or Syndrome
95
187
0.100
None
1.000
1
1
2015
2015
Somatotropin deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
Disease or Syndrome
154
14
0.010
None
1.000
1
2015
2015
Solid Neoplasm
phenotype
Neoplasms
Neoplastic Process
1145
24
0.010
None
1.000
1
2008
2008
Nijmegen Breakage Syndrome
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
94
144
0.010
None
1.000
1
2016
2016
Fasting blood glucose measurement
phenotype
Laboratory Procedure
96
212
0.100
None
1.000
1
1
2012
2012
Serum total cholesterol measurement
phenotype
Laboratory Procedure
486
1243
0.100
None
1.000
1
1
2019
2019
Breathing abnormally deep
phenotype
Respiratory Tract Diseases
Sign or Symptom
2
1
0.010
None
1.000
1
2018
2018
Thoracic dysplasia
disease
Congenital Abnormality
6
0.110
None
1.000
1
2019
2019
Gastrointestinal Stromal Sarcoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
74
0.300
None
1.000
1
2016
2016
Leukemia, T-Cell
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
457
10
0.010
None
1.000
1
1999
1999
Isolated somatotropin deficiency
disease
Disease or Syndrome
168
27
0.010
None
1.000
1
2015
2015
Cholera
disease
Infections
Disease or Syndrome
209
1
0.010
None
1.000
1
2018
2018
Ataxia Telangiectasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
384
698
0.010
None
1.000
1
2013
2013