NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
4 |
2
|
2016 |
2018 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
strong |
1.000 |
3 |
3
|
2017 |
2018 |
Bleeding esophageal varices
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gastroesophageal varices
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of the antitragus
|
disease |
|
Anatomical Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Rett Syndrome, Atypical
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
47
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
|
phenotype |
|
Finding
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
VITAMIN B12 MEASUREMENT
|
phenotype |
|
Laboratory Procedure
|
13
|
22
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
response to simvastatin
|
phenotype |
|
Cell Function
|
21
|
37
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Homocysteine measurement
|
phenotype |
|
Laboratory Procedure
|
23
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Bruxism
|
phenotype |
Stomatognathic Diseases
|
Mental or Behavioral Dysfunction
|
24
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hyperventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
32
|
14
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Abnormality of the metacarpal bones
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Taste sweet
|
phenotype |
|
Sign or Symptom
|
41
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fine hair
|
phenotype |
|
Finding
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Underdeveloped nasal alae
|
phenotype |
|
Congenital Abnormality
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Wide nose
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Self-Injurious Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
91
|
9
|
0.100 |
None |
|
0 |
|
|
|
Drooling
|
phenotype |
Stomatognathic Diseases
|
Finding
|
95
|
14
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|