Episodic metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
3
|
0.100 |
None |
|
0 |
|
|
|
Ethylmalonic aciduria
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
cardiac symptom
|
phenotype |
|
Sign or Symptom
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Coronary Artery Dissection, Spontaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
114
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Deficiency of butyryl-CoA dehydrogenase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
21
|
47
|
1.000 |
definitive |
1.000 |
51 |
43
|
1989 |
2018 |
Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Erythema Multiforme
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
38
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Leukoaraiosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
72
|
24
|
0.100 |
None |
|
0 |
|
|
|
Failure to thrive in infant
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
81
|
4
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Heart Decompensation
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
113
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.010 |
None |
< 0.001 |
1 |
|
2005 |
2005 |
Myocardial Failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
119
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Left-Sided Heart Failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
123
|
5
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Heart Failure, Right-Sided
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
154
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Corpuscular Hemoglobin Concentration Mean
|
phenotype |
|
Laboratory or Test Result
|
401
|
4389
|
0.100 |
None |
1.000 |
1 |
5
|
2012 |
2012 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |