Retinitis Pigmentosa 14
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
2
|
11
|
0.910 |
None |
1.000 |
8 |
11
|
1997 |
2010 |
LEBER CONGENITAL AMAUROSIS 15
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
2 |
4
|
2004 |
2007 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.660 |
strong |
1.000 |
7 |
1
|
1999 |
2016 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.500 |
strong |
1.000 |
14 |
4
|
1998 |
2018 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.310 |
limited |
1.000 |
1 |
|
2014 |
2014 |
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 |
2 |
|
2000 |
2001 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.140 |
None |
1.000 |
5 |
2
|
2007 |
2017 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.130 |
None |
1.000 |
3 |
|
2007 |
2016 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.120 |
None |
1.000 |
2 |
1
|
1997 |
2015 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.120 |
None |
1.000 |
2 |
|
1998 |
2000 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.110 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Severe visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
9
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Atrophoderma maculatum
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Intrauterine retardation
|
phenotype |
|
Pathologic Function
|
41
|
56
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Progressive night blindness
|
phenotype |
Eye Diseases
|
Finding
|
87
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Atrophic macular change
|
phenotype |
|
Finding
|
24
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Congenital nystagmus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
15
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|