Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the brainstem
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Porencephalic cyst
|
disease |
|
Disease or Syndrome
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Occipital Encephalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
33
|
9
|
0.100 |
None |
|
0 |
|
|
|
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2017 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2017 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
3
|
2015 |
2015 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
ST segment elevation myocardial infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
264
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Coronary Microvascular Disease
|
disease |
|
Disease or Syndrome
|
45
|
3
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Steroid Sulfatase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
181
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
BETHLEM MYOPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
108
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
CAMPOMELIC DYSPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
68
|
20
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
|
disease |
Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
45
|
9
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |