Hernia, Inguinal
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
225
|
21
|
0.100 |
None |
|
0 |
|
|
|
Deformity of spine
|
disease |
|
Anatomical Abnormality
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the right hemidiaphragm
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the mitochondrion
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the foot musculature
|
phenotype |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of nipple
|
disease |
|
Congenital Abnormality
|
33
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Thoracic hypoplasia
|
disease |
|
Congenital Abnormality
|
32
|
16
|
0.100 |
None |
|
0 |
|
|
|
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
85
|
16
|
0.100 |
None |
|
0 |
|
|
|
NONAKA MYOPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
132
|
81
|
0.800 |
None |
1.000 |
103 |
76
|
2001 |
2019 |
Sialuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
17
|
0.760 |
strong |
1.000 |
40 |
14
|
1989 |
2017 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
21 |
4
|
2001 |
2019 |
Distal Muscular Dystrophies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
18
|
0.370 |
strong |
1.000 |
8 |
|
2002 |
2018 |
Sialic Acid Storage Disease, Finnish Type (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
44
|
0.360 |
None |
1.000 |
6 |
1
|
2002 |
2017 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.050 |
None |
1.000 |
5 |
|
2002 |
2017 |
Inclusion Body Myopathy, Autosomal Recessive
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.540 |
None |
1.000 |
5 |
|
2002 |
2005 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2017 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.110 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Inclusion Body Myositis (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
87
|
1
|
0.310 |
None |
0.500 |
2 |
|
2007 |
2015 |
Inclusion Body Myopathy, Sporadic
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
84
|
5
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2015 |
X-linked myopathy with excessive autophagy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
9
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2011 |