CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
1 |
2
|
2017 |
2017 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
160
|
10
|
0.330 |
None |
1.000 |
3 |
|
2017 |
2018 |
Kartagener Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
67
|
3
|
0.320 |
None |
1.000 |
2 |
|
2017 |
2017 |
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
43
|
67
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Polynesian Bronchiectasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pancreatitis, Alcoholic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
61
|
86
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Impaired nasal mucociliary clearance
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent sinusitis
|
disease |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Asthenozoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
164
|
17
|
0.100 |
None |
|
0 |
|
|
|
Chronic otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
6
|
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 |
|
|
|
Lung Diseases, Obstructive
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
104
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Immotile cilia
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Neonatal respiratory distress
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
64
|
34
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
|
0 |
|
|
|
Tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
82
|
5
|
0.100 |
None |
|
0 |
|
|
|
Chronic sinusitis
|
disease |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
205
|
6
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
|
|
|