FOVEAL HYPOPLASIA 2
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.700 |
strong |
1.000 |
2 |
5
|
2013 |
2014 |
Foveal Hypoplasia and Anterior Segment Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Optic nerve misrouting
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2019 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Foveal hyperpigmentation
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.100 |
None |
|
0 |
1
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Foveal Hypoplasia, Isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Non-alcoholic Fatty Liver Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1058
|
222
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ocular albinism, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
38
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Albinism, Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
37
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Albinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
46
|
27
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |