Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.800 |
None |
1.000 |
26 |
2
|
1999 |
2019 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.700 |
None |
1.000 |
10 |
|
2000 |
2014 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.360 |
None |
1.000 |
6 |
|
2001 |
2008 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
|
0 |
|
|
|
Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.300 |
None |
|
0 |
|
|
|
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
53
|
69
|
0.300 |
moderate |
|
0 |
|
|
|
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
|
0 |
|
|
|
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.300 |
None |
|
0 |
|
|
|
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
11
|
|
0.300 |
moderate |
|
0 |
|
|
|
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
|
0 |
|
|
|
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
|
0 |
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
15
|
30
|
0.100 |
None |
|
0 |
11
|
|
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the capital femoral epiphysis
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Disproportionate short-trunk short stature
|
phenotype |
|
Finding
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the odontoid process
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Irregular epiphyses
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Limitation of joint mobility
|
phenotype |
|
Finding
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of epiphysis morphology
|
phenotype |
|
Anatomical Abnormality
|
86
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic iliac wing
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Arthralgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Sign or Symptom
|
248
|
27
|
0.100 |
None |
|
0 |
|
|
|
Short femoral neck
|
phenotype |
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Shield chest
|
phenotype |
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|