Abnormal light- and dark-adapted electroretinogram
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of macular pigmentation
|
disease |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Allogenic disease
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Atypical scarring of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
101
|
1
|
0.100 |
None |
|
0 |
|
|
|
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.070 |
None |
1.000 |
7 |
1
|
1992 |
2010 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cone-rod synaptic disorder, congenital nonprogressive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
14
|
4
|
0.300 |
None |
1.000 |
1 |
|
1994 |
1994 |
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
|
0 |
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.310 |
limited |
1.000 |
1 |
|
2000 |
2000 |
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Generalized progressive retinal atrophy
|
disease |
|
Disease or Syndrome
|
5
|
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2000 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.100 |
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 |
4 |
|
2000 |
2013 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|