SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
1
|
13
|
0.920 |
None |
1.000 |
11 |
13
|
2007 |
2018 |
CRANIOECTODERMAL DYSPLASIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
12
|
0.690 |
None |
1.000 |
11 |
1
|
2010 |
2019 |
CRANIOECTODERMAL DYSPLASIA 2
|
disease |
|
Disease or Syndrome
|
2
|
17
|
0.600 |
None |
1.000 |
9 |
16
|
2010 |
2018 |
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
2 |
1
|
2007 |
2011 |
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.420 |
None |
1.000 |
2 |
4
|
2011 |
2019 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.410 |
None |
1.000 |
2 |
|
2010 |
2013 |
Metopic synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
5
|
0.400 |
None |
1.000 |
1 |
|
2010 |
2010 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.330 |
None |
1.000 |
3 |
|
2012 |
2018 |
Short rib-polydactyly syndrome, Verma-Naumoff type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
2
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2012 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Synostotic Anterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Synostotic Posterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Craniosynostosis, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
28
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Majewski Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
31
|
0.300 |
None |
|
0 |
|
|
|
Saldino-Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
108
|
0.300 |
None |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.210 |
None |
1.000 |
1 |
|
2008 |
2008 |
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 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cranioectodermal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
11
|
22
|
0.190 |
None |
1.000 |
11 |
9
|
2010 |
2019 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.120 |
None |
1.000 |
2 |
|
2011 |
2012 |