GELEOPHYSIC DYSPLASIA 1
|
disease |
|
Disease or Syndrome
|
1
|
12
|
0.600 |
strong |
1.000 |
2 |
12
|
2008 |
2011 |
Geleophysic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
10
|
7
|
0.500 |
None |
1.000 |
18 |
6
|
2008 |
2019 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.400 |
None |
1.000 |
1 |
|
2008 |
2008 |
Acromicric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
21
|
31
|
0.310 |
None |
1.000 |
2 |
|
2008 |
2016 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Facies
|
group |
Pathological Conditions, Signs and Symptoms
|
Organism Attribute
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Inborn Errors of Metabolism
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
119
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Heart valve disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
79
|
5
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital Hand Deformities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Musculoskeletal Diseases
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
38
|
5
|
0.200 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypoplasia of the capital femoral epiphysis
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Thickened helices
|
phenotype |
|
Finding
|
37
|
3
|
0.100 |
None |
|
0 |
|
|
|
Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Short foot
|
phenotype |
|
Finding
|
116
|
|
0.100 |
None |
|
0 |
|
|
|