COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
|
disease |
|
Disease or Syndrome
|
2
|
8
|
0.710 |
strong |
1.000 |
8 |
8
|
2011 |
2018 |
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.700 |
strong |
1.000 |
2 |
4
|
2014 |
2014 |
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 |
Hereditary Diffuse Leukoencephalopathy with Spheroids
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
44
|
0.310 |
None |
1.000 |
2 |
|
2016 |
2018 |
Combined oxidative phosphorylation deficiency
|
phenotype |
|
Finding
|
4
|
1
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.130 |
None |
1.000 |
3 |
|
2006 |
2020 |
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 |
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
4 |
2
|
2011 |
2014 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
4 |
2
|
2011 |
2014 |
Mixed respiratory and metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
4
|
3
|
0.100 |
None |
|
0 |
2
|
|
|
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Loss of speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive leukoencephalopathy
|
phenotype |
Nervous System Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pleural effusion disorder
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
227
|
14
|
0.100 |
None |
|
0 |
2
|
|
|