Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
45
|
0.800 |
definitive |
1.000 |
56 |
28
|
1985 |
2019 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.130 |
None |
1.000 |
3 |
|
2015 |
2019 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2019 |
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Carnitine palmitoyl transferase 2 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
29
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2017 |
Myopathy with Abnormal Lipid Metabolism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.050 |
None |
1.000 |
5 |
2
|
2010 |
2016 |
GLUTARIC ACIDEMIA IIC
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.400 |
None |
1.000 |
3 |
4
|
2014 |
2016 |
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
13
|
|
0.300 |
limited |
1.000 |
1 |
|
2016 |
2016 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.300 |
limited |
1.000 |
1 |
|
2016 |
2016 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.030 |
None |
0.667 |
3 |
|
2010 |
2013 |
PREMATURE CENTROMERE DIVISION
|
disease |
|
Disease or Syndrome
|
66
|
2
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2011 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
160
|
10
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2011 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.320 |
None |
1.000 |
3 |
|
2006 |
2009 |
Neutral Lipid Storage Disease with Myopathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
12
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Triglyceride storage disease with ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
8
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Metabolic symptoms
|
phenotype |
|
Sign or Symptom
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Renal carnitine transport defect
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
59
|
123
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Glutaric Aciduria IIC
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
COENZYME Q10 DEFICIENCY
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Glutaric Aciduria IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|