Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.090 |
None |
1.000 |
9 |
1
|
2014 |
2019 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.080 |
None |
1.000 |
8 |
2
|
2014 |
2020 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
4 |
2
|
2011 |
2014 |
Ovarian failure
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
39
|
1
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2020 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
4 |
2
|
2011 |
2014 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.030 |
None |
1.000 |
3 |
2
|
2014 |
2019 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2020 |
OVARIOLEUKODYSTROPHY
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
7
|
9
|
0.320 |
None |
1.000 |
3 |
|
2014 |
2020 |
Infantile cardiomyopathy
|
disease |
|
Disease or Syndrome
|
5
|
1
|
0.030 |
None |
0.667 |
3 |
1
|
2011 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.130 |
None |
1.000 |
3 |
|
2006 |
2020 |
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
44
|
0.310 |
None |
1.000 |
2 |
|
2016 |
2018 |
Mitochondrial cardiomyopathy
|
disease |
|
Disease or Syndrome
|
23
|
7
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.020 |
None |
0.500 |
2 |
1
|
2010 |
2012 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mitochondrial Encephalomyopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
GALACTOSIALIDOSIS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
12
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
333
|
115
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hydrops Fetalis, Non-Immune
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
22
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |