pathologic fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
71
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hyperdistention
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormal respiratory motile cilium morphology
|
disease |
|
Anatomical Abnormality
|
5
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Clubbed Fingers
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
88
|
1
|
0.100 |
None |
|
0 |
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
6 |
4
|
2002 |
2013 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
6 |
2
|
2002 |
2013 |
Congenital atresia of nasopharynx
|
disease |
Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
13
|
|
0.200 |
None |
1.000 |
2 |
|
2002 |
2007 |
Situs ambiguus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
55
|
9
|
0.320 |
strong |
1.000 |
2 |
|
2007 |
2016 |
Other specified congenital malformations of respiratory system
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
13
|
|
0.200 |
None |
1.000 |
2 |
|
2002 |
2007 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
160
|
10
|
0.400 |
strong |
1.000 |
27 |
2
|
2000 |
2019 |
Ciliary Motility Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
59
|
402
|
0.310 |
None |
1.000 |
22 |
122
|
1990 |
2016 |
CILIARY DYSKINESIA, PRIMARY, 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
26
|
0.900 |
None |
1.000 |
19 |
26
|
2000 |
2016 |
Kartagener Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
67
|
3
|
0.300 |
None |
1.000 |
13 |
|
2000 |
2019 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.420 |
None |
1.000 |
3 |
|
2011 |
2019 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2018 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.110 |
None |
1.000 |
2 |
1
|
2014 |
2015 |
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Bronchiectasis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
190
|
15
|
0.410 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cri-du-Chat Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |