Complete congenital stationary night blindness
|
disease |
|
Congenital Abnormality
|
6
|
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2017 |
Macrocytosis
|
disease |
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Visual symptoms
|
phenotype |
|
Sign or Symptom
|
17
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of macular pigmentation
|
disease |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Night blindness, congenital stationary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
32
|
52
|
0.800 |
strong |
1.000 |
11 |
8
|
2009 |
2019 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
19
|
0.600 |
None |
1.000 |
5 |
19
|
2009 |
2016 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
26
|
9
|
0.300 |
None |
|
0 |
|
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
12
|
8
|
0.300 |
None |
|
0 |
|
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
Night Blindness, Congenital Stationary, Type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
19
|
0.300 |
None |
|
0 |
|
|
|
Night blindness, congenital stationary, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
X-Linked Csnb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
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 |
|
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 |
|
|
|
Floppy infant syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
6
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |