Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
2
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.130 |
None |
1.000 |
3 |
|
2012 |
2018 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2014 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Combined oxidative phosphorylation deficiency
|
phenotype |
|
Finding
|
4
|
1
|
0.200 |
None |
|
0 |
|
|
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
disease |
|
Disease or Syndrome
|
1
|
10
|
0.710 |
strong |
1.000 |
6 |
10
|
2012 |
2018 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Failure to thrive in infant
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
81
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.010 |
None |
1.000 |
1 |
2
|
2003 |
2003 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.140 |
None |
1.000 |
4 |
|
2012 |
2018 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2018 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|