LEBER CONGENITAL AMAUROSIS 5
|
disease |
Eye Diseases
|
Disease or Syndrome
|
1
|
3
|
0.910 |
None |
1.000 |
9 |
3
|
2007 |
2017 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.680 |
strong |
1.000 |
11 |
5
|
2003 |
2018 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.320 |
limited |
1.000 |
2 |
|
2009 |
2018 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.320 |
None |
1.000 |
2 |
|
2007 |
2008 |
Blindness both eyes NOS (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Blindness, Hysterical
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Blindness, Legal
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
112
|
6
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Blindness, Acquired
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Retinal Dystrophy, Early Onset Severe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
14
|
2
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Amaurosis
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Blindness, Monocular
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Blindness, Transient
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.100 |
None |
1.000 |
10 |
|
2006 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
4 |
1
|
2000 |
2007 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
1.000 |
2 |
2
|
2013 |
2015 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellar vermis
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Undetectable electroretinogram
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the optic disc
|
phenotype |
|
Finding
|
26
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hyperopia, High
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
47
|
1
|
0.100 |
None |
|
0 |
|
|
|