Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.100 |
None |
1.000 |
12 |
|
2015 |
2019 |
Neuromuscular inhibition
|
disease |
|
Disease or Syndrome
|
72
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscle damage
|
phenotype |
|
Acquired Abnormality
|
163
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Enzyme inhibition disorder
|
phenotype |
|
Disease or Syndrome
|
171
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pseudo-fractures
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Fatty Liver Disease
|
disease |
|
Disease or Syndrome
|
741
|
81
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Metastatic castration-resistant prostate cancer
|
disease |
|
Neoplastic Process
|
140
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Age at menarche
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
267
|
591
|
0.100 |
None |
1.000 |
2 |
2
|
2016 |
2019 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
146
|
349
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Vitelliform Macular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
74
|
120
|
0.010 |
None |
1.000 |
1 |
|
2019 |
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 |
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 |
Sagittal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
13
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
Myotonic Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
155
|
4
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Muscular Dystrophy, Facioscapulohumeral
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
3
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Becker Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
34
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
MYOTONIC DYSTROPHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
179
|
14
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
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 |
SUBCORTICAL BAND HETEROTOPIA, X-LINKED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |