Ellis-Van Creveld Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
3
|
1.000 |
definitive |
1.000 |
18 |
2
|
2002 |
2018 |
Weyers acrofacial dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
3
|
|
0.740 |
None |
1.000 |
4 |
|
2006 |
2013 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
180
|
6
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
ATRIOVENTRICULAR CANAL DEFECT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
35
|
13
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
377
|
64
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2016 |
Hereditary hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
252
|
44
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Short extremities
|
phenotype |
|
Congenital Abnormality
|
14
|
2
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2010 |
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
9
|
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2017 |
Endocardial Cushion Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
66
|
4
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Heterotaxy Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
174
|
51
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
257
|
53
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
Neck Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
28
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
179
|
52
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Human papilloma virus infection
|
disease |
Infections
|
Disease or Syndrome
|
427
|
42
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dental Enamel Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
POLYDACTYLY, POSTAXIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
19
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1091
|
73
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |