Arteriovenous fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
93
|
8
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
pathologic fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
71
|
8
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Tibial pseudoarthrosis
|
disease |
Wounds and Injuries
|
Anatomical Abnormality
|
1
|
1
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Hernia, Inguinal
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
225
|
21
|
0.100 |
None |
|
0 |
1
|
|
|
Knee joint valgus deformity
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
117
|
5
|
0.100 |
None |
|
0 |
|
|
|
Malar flattening
|
disease |
|
Anatomical Abnormality
|
190
|
12
|
0.100 |
None |
|
0 |
|
|
|
Downturned corners of mouth
|
phenotype |
|
Anatomical Abnormality
|
122
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the thorax
|
disease |
|
Anatomical Abnormality
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the lymphatic system
|
disease |
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Wallerian Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
21
|
|
0.200 |
None |
1.000 |
1 |
|
1995 |
1995 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Hip circumference
|
phenotype |
|
Clinical Attribute
|
68
|
116
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
35 |
5
|
1967 |
2017 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
34 |
2
|
1967 |
2017 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.030 |
None |
1.000 |
3 |
|
1992 |
2011 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.020 |
None |
1.000 |
2 |
|
1994 |
2003 |
Congenital pseudoarthrosis
|
disease |
Wounds and Injuries
|
Congenital Abnormality
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.110 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Fibrous Dysplasia
|
disease |
|
Congenital Abnormality
|
53
|
5
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Encephalocraniocutaneous lipomatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Congenital Abnormality
|
5
|
6
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
80
|
16
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |