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 |
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 |
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 |
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 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
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 |
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 |
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 |
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 |
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 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
1
|
|
|
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemic coma
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
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 |
|
|
|
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hepatic periportal necrosis
|
disease |
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Glutaric Aciduria IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Glutaric Aciduria IIB
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.100 |
None |
|
0 |
|
|
|
GLUTARIC ACIDEMIA IIC, LATE-ONSET
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|