CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alcohol-Induced Disorders
|
group |
Chemically-Induced Disorders
|
Disease or Syndrome
|
50
|
180
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Decreased fertility
|
phenotype |
|
Finding
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Alcohol-Related Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
54
|
180
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
59
|
|
0.100 |
None |
|
0 |
|
|
|
Sense of smell impaired
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
60
|
12
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Brugada Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
66
|
201
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Tubular Aggregate Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
67
|
5
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Waist Circumference
|
phenotype |
|
Clinical Attribute
|
70
|
183
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Retinal Vein Occlusion
|
disease |
Eye Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
76
|
15
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Reduced bone mineral density
|
phenotype |
|
Finding
|
76
|
2
|
0.100 |
None |
|
0 |
|
|
|
Ehlers-Danlos Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
77
|
14
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.360 |
None |
1.000 |
6 |
2
|
2011 |
2018 |
Low Back Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
88
|
11
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Lentivirus Infections
|
group |
Infections
|
Disease or Syndrome
|
88
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Periapical Periodontitis
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
90
|
5
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
secondary acute myeloid leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
91
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Color vision defect
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Angiogenic Switch
|
disease |
|
Neoplastic Process
|
96
|
3
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2009 |
Ventricular Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
96
|
19
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Osteoglophonic dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
100
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
105
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |