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 |
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, 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
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.430 |
strong |
1.000 |
3 |
|
2006 |
2015 |
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
|
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 |
Digitotalar Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.120 |
None |
1.000 |
2 |
|
2007 |
2008 |
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2018 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
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 |
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Axillary pterygium
|
phenotype |
Eye Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
80
|
16
|
0.100 |
None |
|
0 |
5
|
|
|
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
Underdeveloped nasal alae
|
phenotype |
|
Congenital Abnormality
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the brainstem
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|