Osteogenesis imperfecta, type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
3
|
0.800 |
None |
0.941 |
17 |
2
|
2012 |
2019 |
Hyperplastic callus formation
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2019 |
Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
90
|
91
|
0.100 |
None |
1.000 |
15 |
1
|
2013 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Biconcave vertebral bodies
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Limited pronation/supination of forearm
|
phenotype |
|
Finding
|
7
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anterior radial head dislocation
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Increased fracture rate
|
phenotype |
|
Finding
|
123
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pelvic girdle bone morphology
|
disease |
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Vertebral wedging
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
|
0 |
|
|
|
Pathological fracture
|
phenotype |
Wounds and Injuries
|
Pathologic Function
|
35
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Skin callus
|
disease |
Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
154
|
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2013 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Opportunistic Infections
|
group |
Infections
|
Disease or Syndrome
|
90
|
7
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Osteogenesis Imperfecta, Type VI
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
6
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |