Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.930 |
None |
1.000 |
9 |
3
|
1999 |
2018 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.880 |
strong |
1.000 |
14 |
2
|
1999 |
2020 |
Dyssegmental dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
|
0.830 |
None |
1.000 |
9 |
|
1999 |
2018 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.410 |
None |
1.000 |
3 |
|
1999 |
2002 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.310 |
None |
1.000 |
1 |
|
1999 |
1999 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.300 |
None |
1.000 |
2 |
|
1999 |
2001 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.300 |
None |
1.000 |
2 |
|
1999 |
2001 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.300 |
None |
1.000 |
2 |
|
1999 |
2001 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
1.000 |
2 |
|
1999 |
2001 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
2 |
|
1999 |
2001 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
2 |
|
1999 |
2001 |
familial atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
157
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Paroxysmal atrial fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
226
|
8
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Persistent atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Myotonic Disorders
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.210 |
None |
1.000 |
6 |
|
1999 |
2012 |
Thanatophoric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
12
|
10
|
0.210 |
None |
1.000 |
2 |
|
1999 |
2002 |
Spondyloepiphyseal dysplasia, congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
15
|
30
|
0.200 |
None |
1.000 |
6 |
|
1999 |
2003 |
Dextrotransposition of aorta
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
4
|
|
0.200 |
None |
1.000 |
4 |
|
1999 |
2003 |
Transposition of the Great Arteries, Dextro-Looped 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
6
|
12
|
0.200 |
None |
1.000 |
4 |
|
1999 |
2003 |
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.200 |
None |
1.000 |
4 |
|
1999 |
2003 |
Discordant ventriculoarterial connection
|
disease |
|
Congenital Abnormality
|
10
|
1
|
0.200 |
None |
1.000 |
4 |
|
1999 |
2003 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
1 |
|
1997 |
1997 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.200 |
None |
1.000 |
1 |
|
1993 |
1993 |