ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.800 |
strong |
1.000 |
7 |
6
|
2010 |
2015 |
Ectopia Lentis with Ectopia of Pupil
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
3
|
0.620 |
None |
1.000 |
2 |
3
|
2010 |
2012 |
Ectopia Lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
34
|
17
|
0.480 |
None |
1.000 |
10 |
3
|
2009 |
2019 |
Ectopia lentis isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
5
|
3
|
0.380 |
None |
1.000 |
8 |
|
2009 |
2015 |
Familial ectopia lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Ectopia Lentis, Isolated, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Lens Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.200 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Malar flattening
|
disease |
|
Anatomical Abnormality
|
190
|
12
|
0.100 |
None |
|
0 |
|
|
|
Congenital ectopic pupil
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.100 |
None |
|
0 |
|
|
|
Amblyopia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
29
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Marfan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
130
|
1012
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2017 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Geleophysic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
10
|
7
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Human immunodeficiency virus (HIV) II infection category B1
|
disease |
|
Disease or Syndrome
|
985
|
56
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Nasopharyngeal carcinoma
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
1553
|
320
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Simple ectopia lentis
|
disease |
Eye Diseases
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Craniosynostosis with Ectopia Lentis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |