BARDET-BIEDL SYNDROME 9
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
11
|
0.700 |
None |
1.000 |
3 |
11
|
2005 |
2015 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.420 |
strong |
1.000 |
2 |
1
|
2007 |
2019 |
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.400 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.400 |
strong |
|
0 |
1
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.400 |
strong |
|
0 |
4
|
|
|
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.330 |
None |
1.000 |
4 |
|
2012 |
2019 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Craniosynostosis, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
28
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Synostotic Anterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Metopic synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
5
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Synostotic Posterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.180 |
None |
1.000 |
9 |
17
|
2005 |
2019 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.110 |
None |
1.000 |
1 |
3
|
2012 |
2012 |
Sagittal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
13
|
0.110 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
White Blood Cell Count procedure
|
phenotype |
|
Laboratory Procedure
|
681
|
1322
|
0.100 |
None |
1.000 |
2 |
3
|
2011 |
2018 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
2
|
2013 |
2013 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Tryptophan measurement
|
phenotype |
|
Laboratory Procedure
|
3
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |