MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
|
disease |
|
Disease or Syndrome
|
1
|
13
|
0.700 |
None |
1.000 |
2 |
13
|
2016 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.420 |
None |
1.000 |
2 |
|
2016 |
2019 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.320 |
None |
1.000 |
3 |
|
2017 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Precancerous Conditions
|
group |
Neoplasms
|
Neoplastic Process
|
471
|
18
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1649
|
88
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Condition, Preneoplastic
|
disease |
Neoplasms
|
Neoplastic Process
|
122
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Acute Myeloid Leukemia, M1
|
disease |
Neoplasms
|
Neoplastic Process
|
138
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Acute Myeloid Leukemia (AML-M2)
|
disease |
Neoplasms
|
Neoplastic Process
|
143
|
5
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Metastatic melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
504
|
42
|
0.300 |
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
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
9 |
1
|
1996 |
2017 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
9 |
1
|
1996 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
3
|
1996 |
2017 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Congenital ptosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
|
0 |
|
|
|
Atrioventricular Septal Defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
58
|
19
|
0.100 |
None |
|
0 |
|
|
|
Chronic constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
47
|
16
|
0.100 |
None |
|
0 |
|
|
|
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|