Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2019 |
Fundus Albipunctatus
|
disease |
Eye Diseases
|
Congenital Abnormality
|
9
|
21
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital cerebral hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
93
|
6
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
LEBER CONGENITAL AMAUROSIS 13
|
disease |
Eye Diseases
|
Disease or Syndrome
|
2
|
20
|
0.710 |
None |
1.000 |
19 |
20
|
2004 |
2019 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.500 |
None |
1.000 |
15 |
4
|
2004 |
2019 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.100 |
None |
1.000 |
10 |
2
|
2007 |
2019 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.660 |
strong |
1.000 |
9 |
8
|
2007 |
2019 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.460 |
None |
1.000 |
7 |
2
|
2004 |
2019 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.040 |
None |
1.000 |
4 |
|
2011 |
2017 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2018 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2019 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.120 |
None |
1.000 |
2 |
|
2007 |
2008 |
Atrophoderma maculatum
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
2
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2017 |
Retinal Dystrophy, Early Onset Severe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
14
|
2
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.020 |
None |
1.000 |
2 |
1
|
2007 |
2018 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.120 |
None |
1.000 |
2 |
1
|
2007 |
2018 |
Severe visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pigmentary retinal dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
9
|
4
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Mild hypermetropia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |