Hyperexplexia
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
13
|
36
|
0.700 |
moderate |
0.979 |
47 |
19
|
1992 |
2019 |
HYPEREKPLEXIA 1
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
23
|
0.600 |
None |
1.000 |
24 |
23
|
1992 |
2017 |
Hereditary Hyperexplexia
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.370 |
None |
1.000 |
7 |
1
|
1993 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.310 |
moderate |
1.000 |
3 |
|
1992 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.310 |
moderate |
1.000 |
3 |
|
1992 |
2017 |
Autosomal Recessive Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dystonia, Secondary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dystonias, Sporadic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Focal Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
21
|
8
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Idiopathic familial dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Childhood Onset Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
13
|
8
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Autosomal Dominant Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adult-Onset Idiopathic Torsion Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Writer's Cramp
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
3
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adult-Onset Idiopathic Focal Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adult-Onset Dystonias
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Pseudodystonia
|
disease |
Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
262
|
11
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
2
|
2012 |
2012 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |