Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
34
|
0.780 |
definitive |
1.000 |
15 |
17
|
1996 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.500 |
None |
1.000 |
1 |
|
2011 |
2011 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
51
|
0.400 |
None |
|
0 |
3
|
|
|
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Lipid Metabolism Disorders
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
95
|
10
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Mammary Neoplasms, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
527
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
13
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Mammary Carcinoma, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
545
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Trifunctional Protein Deficiency, Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2015 |
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hypoparathyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
92
|
15
|
0.110 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
93
|
21
|
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 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Toe-walking gait
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|