3-Methylglutaconic aciduria type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
22
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abetalipoproteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
65
|
19
|
0.050 |
None |
1.000 |
5 |
|
2005 |
2019 |
Abnormal amniotic fluid
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.110 |
None |
1.000 |
1 |
|
1996 |
1996 |
Acute fatty liver of pregnancy
|
disease |
Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
5
|
|
0.360 |
None |
1.000 |
7 |
|
1995 |
2017 |
Acute respiratory distress
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Disease or Syndrome
|
147
|
6
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Adrenogenital Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Alkalosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
alpha 1-Antitrypsin Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
73
|
48
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.140 |
None |
1.000 |
4 |
|
2005 |
2018 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Carnitine palmitoyl transferase 2 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
29
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Carnitine-Acylcarnitine Translocase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
16
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Chemical and Drug Induced Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
461
|
38
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Chemically-Induced Liver Toxicity
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.100 |
None |
|
0 |
|
|
|
Cholestatic liver disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
58
|
|
0.100 |
None |
|
0 |
|
|
|