Asphyxiating Thoracic Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
5
|
0.900 |
strong |
1.000 |
3 |
5
|
2007 |
2011 |
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
116
|
0.610 |
strong |
1.000 |
1 |
3
|
2007 |
2007 |
Short rib-polydactyly syndrome, Verma-Naumoff type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
2
|
0.500 |
None |
1.000 |
3 |
|
2011 |
2012 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.500 |
None |
1.000 |
1 |
|
2007 |
2007 |
Short rib-polydactyly syndrome, Beemer type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
8
|
0.400 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.400 |
None |
1.000 |
1 |
|
2007 |
2007 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.320 |
None |
1.000 |
2 |
|
2018 |
2019 |
Cystic kidney
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
89
|
1
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Thoracic Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Respiratory Depression
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
24
|
5
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Cystic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Asphyxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Wounds and Injuries
|
Pathologic Function
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
11
|
|
0.300 |
moderate |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
53
|
69
|
0.300 |
moderate |
|
0 |
|
|
|
Asphyxiating thoracic dysplasia [Jeune]
|
disease |
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Short rib dysplasia
|
disease |
Musculoskeletal Diseases; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Saldino-Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
108
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Oral Ulcer
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
104
|
101
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Narrow thorax
|
phenotype |
|
Finding
|
112
|
18
|
0.100 |
None |
|
0 |
|
|
|
Short thorax
|
phenotype |
|
Finding
|
51
|
8
|
0.100 |
None |
|
0 |
|
|
|