Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
2
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
INFANTILE CEREBELLAR-RETINAL DEGENERATION
|
disease |
|
Disease or Syndrome
|
2
|
7
|
0.740 |
None |
1.000 |
5 |
7
|
2012 |
2019 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
4 |
2
|
2012 |
2017 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2015 |
Disorder of the optic nerve
|
group |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
112
|
2
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2019 |
Optic Neuropathy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
8
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
OPTIC ATROPHY 9
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.700 |
strong |
1.000 |
2 |
2
|
2012 |
2014 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Respiratory Distress Syndrome, Adult
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
434
|
60
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Respiratory Tract Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
198
|
109
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Optic Atrophy 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fumarase deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
90
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
FRIEDREICH ATAXIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
119
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
|
disease |
|
Disease or Syndrome
|
14
|
22
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
PACHYONYCHIA CONGENITA 3
|
disease |
|
Disease or Syndrome
|
209
|
20
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |