Abnormal palmar creases
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal thalamic MRI signal intensity
|
phenotype |
|
Finding
|
4
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of lateral ventricle
|
disease |
|
Anatomical Abnormality
|
4
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Acute rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
5
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Adverse Event Associated with Cardiac Arrhythmia
|
phenotype |
|
Disease or Syndrome
|
42
|
5
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Alternating hemiplegia of childhood
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
8
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Atrophy/Degeneration affecting the cerebrum
|
phenotype |
|
Pathologic Function
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.100 |
None |
|
0 |
1
|
|
|
Brisk reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
31
|
7
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.100 |
None |
|
0 |
|
|
|
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Clonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
60
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |