Cleft lip or lips
|
phenotype |
|
Anatomical Abnormality
|
78
|
37
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.030 |
None |
0.667 |
3 |
2
|
2004 |
2018 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.030 |
None |
1.000 |
3 |
3
|
2003 |
2009 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2013 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2013 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2017 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2017 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2013 |
Conotruncal defect
|
disease |
|
Congenital Abnormality
|
51
|
45
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Heart Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
77
|
12
|
0.010 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Laryngeal cleft
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
72
|
4
|
0.010 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.100 |
None |
1.000 |
10 |
1
|
2003 |
2018 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.060 |
None |
1.000 |
6 |
2
|
2006 |
2019 |
Malaria
|
disease |
Infections
|
Disease or Syndrome
|
685
|
148
|
0.040 |
None |
1.000 |
4 |
|
1993 |
2018 |
Gilles de la Tourette syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
177
|
63
|
0.040 |
None |
0.750 |
4 |
|
2004 |
2011 |
Tricuspid Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
26
|
1
|
0.040 |
None |
0.750 |
4 |
|
2004 |
2011 |
Tuberculosis
|
disease |
Infections
|
Disease or Syndrome
|
1256
|
328
|
0.040 |
None |
0.750 |
4 |
|
2012 |
2019 |
Timothy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
Disease or Syndrome
|
32
|
9
|
0.040 |
None |
0.750 |
4 |
|
2004 |
2011 |
Lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
226
|
28
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2013 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.320 |
None |
1.000 |
3 |
|
2011 |
2019 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.030 |
None |
1.000 |
3 |
2
|
2006 |
2019 |