Ellis-Van Creveld Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
121
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2019 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.330 |
None |
1.000 |
3 |
|
2012 |
2018 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.410 |
None |
1.000 |
2 |
|
2010 |
2013 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.120 |
None |
1.000 |
2 |
|
2011 |
2012 |
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 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
Synostotic Anterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
airway disease restrictive
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Short rib dysplasia
|
disease |
Musculoskeletal Diseases; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Metopic synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
5
|
0.400 |
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 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.210 |
None |
1.000 |
1 |
|
2008 |
2008 |
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Camurati-Engelmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
34
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Asphyxiating thoracic dysplasia [Jeune]
|
disease |
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mucociliary clearance defect
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital anomalies of fetus
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |