CONE-ROD DYSTROPHY 15
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
2 |
1
|
2010 |
2015 |
RETINITIS PIGMENTOSA 65
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Usher syndrome, type 1D
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Central areolar choroidal sclerosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
10
|
5
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Atrophoderma maculatum
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
2
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Macular degeneration
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
16
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cone Dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
48
|
31
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2017 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2013 |
Progressive night blindness
|
phenotype |
Eye Diseases
|
Finding
|
87
|
3
|
0.100 |
None |
|
0 |
|
|
|
Color vision defect
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Atypical scarring of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
101
|
1
|
0.100 |
None |
|
0 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2013 |
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.180 |
None |
1.000 |
10 |
4
|
2005 |
2019 |
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.350 |
None |
1.000 |
5 |
|
2010 |
2019 |
Carcinoid Tumor
|
phenotype |
Neoplasms
|
Neoplastic Process
|
267
|
3
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |