MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.500 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.200 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary malignant neoplasm of lateral wall of oropharynx
|
disease |
|
Neoplastic Process
|
4
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Oropharyngeal Carcinoma
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
115
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Malignant neoplasm of posterior wall of oropharynx
|
disease |
Neoplasms; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
4
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
malignant neoplasm of lateral wall of oropharynx
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
4
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Malignant neoplasm of oropharynx
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
83
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.100 |
None |
|
0 |
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
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
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Double Outlet Right Ventricle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
48
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiac defects
|
group |
|
Disease or Syndrome
|
62
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Membranous ventricular septum defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Perimembranous ventricular septal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
9
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Acute Promyelocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
651
|
21
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |