Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.100 |
None |
1.000 |
12 |
|
2015 |
2019 |
Muscle damage
|
phenotype |
|
Acquired Abnormality
|
163
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cavitation
|
disease |
|
Anatomical Abnormality
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pseudo-fractures
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Sagittal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
13
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypophosphatasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
27
|
29
|
0.100 |
None |
1.000 |
10 |
|
1988 |
2018 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.060 |
None |
1.000 |
6 |
|
2009 |
2019 |
Hereditary pyropoikilocytosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
47
|
23
|
0.050 |
None |
1.000 |
5 |
|
2007 |
2019 |
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.030 |
None |
0.667 |
3 |
|
2003 |
2020 |
Hyperlipidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
472
|
83
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2017 |
Hypertriglyceridemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
340
|
169
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2020 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2020 |
Dyslipidemias
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
471
|
184
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Thrombophilia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
161
|
43
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2020 |
Acute pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
435
|
51
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2020 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2019 |