EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
|
disease |
|
Disease or Syndrome
|
7
|
5
|
0.720 |
None |
1.000 |
5 |
5
|
2012 |
2018 |
Ehlers-Danlos syndrome type 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
14
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.120 |
None |
0.500 |
2 |
|
2018 |
2019 |
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hyperextensible skin
|
phenotype |
|
Finding
|
50
|
11
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Phrynoderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Valgus deformities of feet
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
26
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Range of joint movement increased
|
phenotype |
|
Finding
|
30
|
46
|
0.100 |
None |
|
0 |
1
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.100 |
None |
|
0 |
1
|
|
|
Atrophic scar
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Rupture of artery
|
disease |
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
High-frequency sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
|
|
|
Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
136
|
10
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|