Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
2 |
3
|
2017 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Encephalopathy, CTCAE 3.0
|
phenotype |
|
Finding
|
14
|
24
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
peptidylamidoglycolate lyase activity
|
phenotype |
|
Molecular Function
|
1
|
|
0.300 |
limited |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Elevated urinary epinephrine
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated calcitonin
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Palpitations, CTCAE
|
phenotype |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated urinary dopamine
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Positive regitine blocking test
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated urinary norepinephrine
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Episodic paroxysmal anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Morphine Dependence
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
44
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Drug Dependence
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
248
|
31
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Opiate Abuse
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
23
|
98
|
0.300 |
limited |
1.000 |
1 |
|
2015 |
2015 |