Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
5 |
1
|
2000 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
5 |
3
|
2000 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
5 |
1
|
2000 |
2017 |
Neurologic Symptoms
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
233
|
30
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
female puberty
|
phenotype |
|
Sign or Symptom
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
FRAGILE X TREMOR/ATAXIA SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
62
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Persistent atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
familial atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
157
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Paroxysmal atrial fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
226
|
8
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Overbite
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
13
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Ventouse delivery (finding)
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Facial diplegia
|
phenotype |
Infections; Nervous System Diseases; Stomatognathic Diseases
|
Finding
|
42
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
3
|
|
|
Abnormal delivery
|
phenotype |
|
Pathologic Function
|
32
|
37
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|