KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
7
|
0.730 |
None |
1.000 |
7 |
4
|
1988 |
2013 |
MICROPHTHALMIA, ISOLATED 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
2007 |
2014 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.130 |
None |
1.000 |
3 |
|
2007 |
2012 |
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.030 |
None |
1.000 |
3 |
1
|
1995 |
2008 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.310 |
None |
1.000 |
2 |
|
2013 |
2015 |
Congenital abnormal Synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
25
|
7
|
0.020 |
None |
1.000 |
2 |
1
|
2016 |
2018 |
Radiculopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
25
|
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
89
|
6
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Intervertebral Disc Degeneration
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
342
|
47
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
LEBER CONGENITAL AMAUROSIS 17
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
1 |
4
|
2013 |
2013 |
Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Exudative age-related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
158
|
109
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Polypoidal choroidal vasculopathy
|
disease |
|
Disease or Syndrome
|
56
|
67
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Jarcho-Levin syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
12
|
14
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Nanophthalmia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Inflammatory pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
266
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Multiple synostosis syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Sacral agenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
1
|
0.300 |
None |
1.000 |
1 |
|
1988 |
1988 |
Leri pleonosteosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Photoreceptor degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
136
|
16
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Microphthalmia associated with colobomatous cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |