Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Poisoning by fluorouracil
|
disease |
Chemically-Induced Disorders
|
Injury or Poisoning
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
|
|
|
Aggressive behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
176
|
22
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eating behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced dihydropyrimidine dehydrogenase activity
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
62
|
0.800 |
strong |
0.941 |
51 |
62
|
1988 |
2019 |
Purine-Pyrimidine Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
1988 |
2004 |
End stage cardiac failure
|
disease |
|
Disease or Syndrome
|
76
|
2
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Sarcoma, Yoshida
|
disease |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
6
|
|
0.200 |
None |
1.000 |
1 |
|
1993 |
1993 |
Hypokalemic periodic paralysis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
19
|
0.090 |
None |
1.000 |
9 |
|
1994 |
1999 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Dihydropyrimidinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
2 |
|
1996 |
2005 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.400 |
None |
1.000 |
33 |
6
|
1997 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
1.000 |
29 |
4
|
1997 |
2019 |
Hypokalemic periodic paralysis type 1
|
disease |
|
Disease or Syndrome
|
12
|
24
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1999 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.400 |
None |
0.965 |
57 |
6
|
1998 |
2020 |