OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
8
|
0.930 |
strong |
1.000 |
6 |
8
|
2009 |
2017 |
Osteogenesis imperfecta, type VIII
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
13
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Bowing of limbs due to multiple fractures
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Beading of ribs
|
disease |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short leg
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
8
|
93
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Decreased calvarial ossification
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
12
|
65
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Multiple prenatal fractures
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bacteriuria
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
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
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dentinogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
35
|
7
|
0.100 |
None |
|
0 |
|
|
|
Disproportionate short-limb short stature
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Osteogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
90
|
91
|
0.300 |
None |
0.929 |
14 |
|
2009 |
2017 |
Opportunistic Infections
|
group |
Infections
|
Disease or Syndrome
|
90
|
7
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Increased fracture rate
|
phenotype |
|
Finding
|
123
|
|
0.100 |
None |
|
0 |
|
|
|
HIV Coinfection
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
129
|
3
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
138
|
26
|
0.100 |
None |
|
0 |
|
|
|
Endometrial adenocarcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
212
|
5
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cytomegalovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
462
|
26
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |