Dissecting aneurysm of the thoracic aorta
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
57
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Premature coronary artery atherosclerosis
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
87
|
43
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Hypotension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cardiopulmonary Arrest
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
198
|
103
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
beta^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
156
|
44
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Wiskott-Aldrich Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
95
|
34
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
TARSAL-CARPAL COALITION SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
261
|
13
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Carnitine-Acylcarnitine Translocase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
16
|
0.770 |
definitive |
1.000 |
22 |
16
|
1997 |
2019 |
Peroxisome Biogenesis Disorder, Complementation Group C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
2
|
0.030 |
None |
1.000 |
3 |
|
1994 |
2012 |
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 |
|
1999 |
2006 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Peroxisome biogenesis disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
41
|
38
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hermanski-Pudlak Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
70
|
59
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
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
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Very long chain acyl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
118
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2019 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |