Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
1
|
0.710 |
None |
1.000 |
4 |
1
|
2008 |
2017 |
Ehlers-Danlos Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
77
|
14
|
0.340 |
None |
1.000 |
4 |
|
2008 |
2019 |
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
54
|
2
|
0.300 |
None |
1.000 |
2 |
|
2008 |
2012 |
Odontome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
10
|
|
0.300 |
None |
1.000 |
2 |
|
2008 |
2012 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.300 |
None |
1.000 |
2 |
|
2008 |
2012 |
Ehlers-Danlos Syndrome, Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
7
|
391
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Bone Diseases
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
317
|
10
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Zinc deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
90
|
4
|
0.210 |
None |
1.000 |
1 |
|
2011 |
2011 |
Alcoholic Liver Diseases
|
group |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
195
|
20
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Waist Circumference
|
phenotype |
|
Clinical Attribute
|
70
|
183
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Hip circumference
|
phenotype |
|
Clinical Attribute
|
68
|
116
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Short phalanx of finger
|
phenotype |
|
Finding
|
41
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
Late tooth eruption
|
phenotype |
|
Finding
|
139
|
4
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Thin skin
|
phenotype |
|
Finding
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Thenar muscle atrophy
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Short femoral neck
|
phenotype |
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Moderately short stature
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|