Freeman-Sheldon syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
26
|
6
|
0.800 |
strong |
1.000 |
17 |
6
|
1997 |
2019 |
Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
15
|
0.200 |
None |
1.000 |
15 |
3
|
2006 |
2020 |
ARTHROGRYPOSIS, DISTAL, TYPE 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
6
|
0.690 |
strong |
1.000 |
12 |
2
|
2006 |
2020 |
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
36
|
19
|
0.460 |
None |
1.000 |
6 |
9
|
2016 |
2018 |
ARTHROGRYPOSIS, DISTAL, TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
9
|
10
|
0.340 |
None |
1.000 |
5 |
|
1997 |
2013 |
Multiple Pterygium Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
12
|
0.710 |
strong |
1.000 |
4 |
12
|
2015 |
2018 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.430 |
strong |
1.000 |
3 |
|
2006 |
2015 |
Multiple pterygium syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
9
|
11
|
0.310 |
None |
1.000 |
2 |
|
2015 |
2018 |
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2018 |
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.010 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Prognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital retrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital Camptodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
123
|
10
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Scott Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Digitotalar Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Basilar invagination
|
disease |
|
Congenital Abnormality
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
278
|
19
|
0.100 |
None |
|
0 |
|
|
|
Blepharophimosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
106
|
15
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.100 |
None |
|
0 |
|
|
|