Alstrom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
179
|
1.000 |
definitive |
1.000 |
63 |
179
|
1998 |
2020 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2020 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.370 |
None |
1.000 |
8 |
1
|
2002 |
2019 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.170 |
None |
1.000 |
7 |
|
2005 |
2019 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2019 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
4 |
5
|
2016 |
2019 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.130 |
None |
1.000 |
3 |
|
2015 |
2019 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2019 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pediatric Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
191
|
67
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2018 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.110 |
None |
1.000 |
2 |
1
|
2011 |
2018 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
2 |
3
|
2018 |
2018 |
Mild short stature
|
phenotype |
|
Finding
|
25
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Usher syndrome, type 1D
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Acute myocardial infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
766
|
118
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
29
|
41
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.330 |
strong |
1.000 |
4 |
|
2011 |
2017 |