Ehlers-Danlos syndrome 6B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
4
|
0.800 |
strong |
1.000 |
15 |
2
|
2008 |
2019 |
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.400 |
None |
1.000 |
1 |
|
2008 |
2008 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Joint Instability
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Corneal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
47
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Keratoconus
|
disease |
Eye Diseases
|
Disease or Syndrome
|
269
|
83
|
0.200 |
None |
0.900 |
10 |
5
|
2013 |
2019 |
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Corneal thinning
|
disease |
|
Disease or Syndrome
|
6
|
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Soft skin
|
phenotype |
|
Finding
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Molluscoid pseudotumors
|
disease |
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.100 |
None |
|
0 |
|
|
|
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Palmoplantar cutis laxa
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.100 |
None |
|
0 |
|
|
|
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.100 |
None |
|
0 |
|
|
|
Spondylolisthesis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Disproportionate tall stature
|
phenotype |
|
Finding
|
30
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hyperextensible skin
|
phenotype |
|
Finding
|
50
|
11
|
0.100 |
None |
|
0 |
|
|
|
Keratoconus 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
2
|
28
|
0.100 |
None |
|
0 |
20
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Congenital Camptodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
123
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|