Abnormal thalamic MRI signal intensity
|
phenotype |
|
Finding
|
4
|
6
|
0.100 |
None |
1.000 |
4 |
5
|
1997 |
2014 |
Actual Aspiration
|
phenotype |
|
Finding
|
18
|
8
|
0.100 |
None |
|
0 |
|
|
|
Adult Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1169
|
66
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Amaurotic Familial Idiocy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
angina symptom
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Sign or Symptom
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Apathy
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
83
|
9
|
0.100 |
None |
|
0 |
|
|
|
Aspiration, CTCAE
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Cherry red spot of the macula
|
phenotype |
|
Finding
|
9
|
15
|
0.100 |
None |
1.000 |
5 |
14
|
1992 |
2014 |
Childhood Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1171
|
66
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
1.000 |
5 |
15
|
1992 |
2014 |
Diffuse Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
56
|
5
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
1.000 |
4 |
5
|
1992 |
2014 |
Endotracheal aspiration
|
phenotype |
|
Pathologic Function
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Erysipelothrix infection
|
disease |
Infections; Animal Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Exaggerated startle response
|
phenotype |
|
Finding
|
18
|
4
|
0.100 |
None |
|
0 |
|
|
|
Gangliosidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
2
|
0.030 |
None |
1.000 |
3 |
2
|
1997 |
2004 |
Gangliosidoses, GM2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
5
|
0.070 |
None |
0.857 |
7 |
4
|
1993 |
2013 |
Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.020 |
None |
1.000 |
2 |
1
|
1994 |
2018 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
2
|
|
|