OSTEOGENESIS IMPERFECTA, TYPE XI
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.630 |
strong |
1.000 |
4 |
3
|
2012 |
2018 |
Kuskokwim disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Kuskokwim syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Bruck syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
8
|
0.700 |
strong |
1.000 |
5 |
8
|
2010 |
2013 |
Bruck syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
4
|
0.300 |
None |
1.000 |
3 |
|
2012 |
2013 |
OSTEOGENESIS IMPERFECTA, TYPE XII
|
disease |
|
Disease or Syndrome
|
3
|
5
|
0.100 |
None |
|
0 |
4
|
|
|
Bruck syndrome
|
disease |
|
Disease or Syndrome
|
6
|
|
0.400 |
None |
0.938 |
16 |
|
2011 |
2018 |
Vertebral wedging
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Protrusio acetabuli
|
disease |
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
12
|
65
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2015 |
Biconcave vertebral bodies
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Osteogenesis imperfecta type III (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
67
|
0.320 |
None |
1.000 |
4 |
|
2011 |
2015 |
Arthritis aggravated
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Patella aplasia-hypoplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Compression fracture of vertebral column
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries
|
Pathologic Function
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.040 |
None |
1.000 |
4 |
|
2011 |
2013 |
Hip Contracture
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Dentinogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
35
|
7
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Contracture of joint
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
36
|
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2017 |
Increased susceptibility to fractures
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the clavicle
|
disease |
|
Anatomical Abnormality
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the radius
|
phenotype |
|
Finding
|
45
|
|
0.100 |
None |
|
0 |
|
|
|
Hip joint varus deformity - observation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
Bowing of the long bones
|
phenotype |
|
Congenital Abnormality
|
63
|
5
|
0.100 |
None |
|
0 |
|
|
|