Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
90
|
91
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2018 |
COLE-CARPENTER SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
moderate |
1.000 |
2 |
3
|
2015 |
2017 |
Cole Carpenter syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.610 |
strong |
1.000 |
2 |
|
2015 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.100 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
3097
|
353
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Synostotic Posterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Narrow iliac wings
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal form of the vertebral bodies
|
phenotype |
|
Finding
|
89
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Microretrognathia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Finding
|
53
|
6
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Increased fracture rate
|
phenotype |
|
Finding
|
123
|
|
0.100 |
None |
|
0 |
|
|
|