Desmosterolosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
7
|
0.790 |
None |
1.000 |
11 |
7
|
2000 |
2019 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.400 |
None |
0.958 |
24 |
4
|
2000 |
2019 |
Alzheimer Disease, Late Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
385
|
243
|
0.310 |
None |
1.000 |
2 |
1
|
2012 |
2013 |
Familial Alzheimer Disease (FAD)
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
260
|
95
|
0.310 |
None |
1.000 |
2 |
|
2008 |
2013 |
Acute Q fever
|
disease |
Infections
|
Disease or Syndrome
|
10
|
3
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Q Fever
|
disease |
Infections
|
Disease or Syndrome
|
26
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Acute Confusional Senile Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
99
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Alzheimer's Disease, Focal Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
99
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Alzheimer Disease, Early Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
174
|
96
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Chronic Q Fever
|
disease |
Infections
|
Disease or Syndrome
|
22
|
9
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Coxiella burnetii Infection
|
disease |
Infections
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.130 |
None |
1.000 |
3 |
|
2017 |
2019 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
24 |
|
2005 |
2019 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.100 |
None |
1.000 |
13 |
|
2008 |
2019 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.100 |
None |
1.000 |
12 |
|
2008 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
1.000 |
12 |
|
2017 |
2020 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.100 |
None |
1.000 |
11 |
|
2017 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|