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 |
Asphyxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Wounds and Injuries
|
Pathologic Function
|
3
|
|
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 |
Short rib dysplasia
|
disease |
Musculoskeletal Diseases; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Asphyxiating thoracic dysplasia [Jeune]
|
disease |
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
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 |
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 |
Urethrovaginal fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pelvis bone ossification
|
disease |
|
Anatomical Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid epiglottis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital duplication of uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Absent or minimally ossified vertebral bodies
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
11
|
|
0.300 |
moderate |
|
0 |
|
|
|
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 |
Lethal skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Majewski Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
31
|
0.100 |
None |
|
0 |
1
|
|
|
Ectopic anus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2011 |
Cleft face
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Depression
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
24
|
5
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Spade-like hand
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid tongue
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bare lymphocyte syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
27
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mesomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
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 |