Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
6 |
1
|
2011 |
2017 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
strong |
1.000 |
2 |
6
|
2014 |
2014 |
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Severe psychomotor retardation
|
phenotype |
|
Mental or Behavioral Dysfunction
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Mitochondrial cardiomyopathy
|
disease |
|
Disease or Syndrome
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Persistent Fetal Circulation Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Disease or Syndrome
|
14
|
7
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Hepatitis B, Chronic
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
415
|
84
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Myasthenia Gravis
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
336
|
93
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Squamous cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
670
|
283
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
6 |
2
|
2011 |
2017 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2017 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.040 |
None |
1.000 |
4 |
|
2014 |
2019 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.100 |
None |
1.000 |
1 |
1
|
2007 |
2007 |