Hereditary macular dystrophy
|
disease |
|
Congenital Abnormality
|
39
|
10
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2009 |
Motor neuron atrophy
|
disease |
|
Disease or Syndrome
|
138
|
21
|
0.030 |
None |
1.000 |
3 |
|
2000 |
2008 |
Stargardt's disease
|
phenotype |
|
Disease or Syndrome
|
45
|
24
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Dominant drusen
|
disease |
|
Congenital Abnormality
|
4
|
2
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
3
|
5
|
0.400 |
moderate |
1.000 |
1 |
1
|
2004 |
2004 |
Autosomal dominant cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
31
|
2
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Butterfly-shaped pigmentary macular dystrophy
|
disease |
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Degeneration of the lateral corticospinal tracts
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of respiratory muscles
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigable weakness of swallowing muscles
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.100 |
None |
|
0 |
|
|
|
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.100 |
None |
1.000 |
19 |
|
1991 |
2002 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.100 |
None |
1.000 |
14 |
|
1991 |
2009 |
Adult-Onset Vitelliform Macular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
8
|
16
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2008 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1996 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1996 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1996 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |