Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
4 |
1
|
2003 |
2014 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
4 |
1
|
2003 |
2014 |
Genitourinary symptoms
|
phenotype |
|
Sign or Symptom
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
|
phenotype |
|
Sign or Symptom
|
69
|
23
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
1 |
1
|
2003 |
2003 |
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
|
disease |
|
Finding
|
1
|
1
|
0.400 |
None |
1.000 |
1 |
1
|
2003 |
2003 |
Diffuse Intrinsic Pontine Glioma
|
disease |
|
Neoplastic Process
|
87
|
9
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Extracranial Solid Neoplasm
|
disease |
|
Neoplastic Process
|
8
|
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Increased serum serotonin
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Restrictive behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2018 |
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Stereotyped Behavior
|
disease |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
135
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
1
|
|
|
Lack of spontaneous play
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Inflexible adherence to routines or rituals
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Drug habituation
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
196
|
19
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.010 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.010 |
None |
1.000 |
1 |
1
|
2010 |
2010 |