Li-Fraumeni-Like Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Kartagener Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
67
|
3
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Infertility
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
130
|
5
|
0.100 |
None |
|
0 |
|
|
|
Impaired nasal mucociliary clearance
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Immotile cilia
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Hepatocarcinogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
855
|
24
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Headache
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
338
|
75
|
0.100 |
None |
|
0 |
|
|
|
Halitosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Hair Color
|
phenotype |
|
Organism Attribute
|
130
|
312
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Ectopic Pregnancy
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Coughing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
235
|
16
|
0.100 |
None |
|
0 |
|
|
|
Corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
113
|
25
|
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 |
|
|
|
Congenital atresia of nasopharynx
|
disease |
Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
13
|
|
0.200 |
None |
1.000 |
1 |
|
2016 |
2016 |
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 |
|
|
|
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.100 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Clubbed Fingers
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
88
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ciliary Motility Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
59
|
402
|
0.100 |
None |
|
0 |
|
|
|
CILIARY DYSKINESIA, PRIMARY, 33
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.900 |
limited |
1.000 |
3 |
4
|
2015 |
2016 |
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 |
|
2015 |
2015 |