TUMOR PREDISPOSITION SYNDROME
|
disease |
|
Disease or Syndrome
|
16
|
62
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Childhood Pilomyxoid Astrocytoma
|
disease |
|
Neoplastic Process
|
10
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2020 |
2020 |
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neurofibromatosis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
311
|
827
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Familial lichen amyloidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
230
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
|
|
|
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.100 |
None |
|
0 |
|
|
|
Keratoconus
|
disease |
Eye Diseases
|
Disease or Syndrome
|
269
|
83
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Progressive night blindness
|
phenotype |
Eye Diseases
|
Finding
|
87
|
3
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Pilocytic Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
163
|
14
|
0.400 |
None |
1.000 |
39 |
|
2009 |
2019 |
Adult Pilocytic Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
92
|
10
|
0.100 |
None |
1.000 |
19 |
|
2009 |
2019 |
Childhood Pilocytic Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
97
|
10
|
0.100 |
None |
1.000 |
19 |
|
2009 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
12 |
|
2009 |
2019 |
Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
985
|
59
|
0.330 |
None |
1.000 |
4 |
|
2010 |
2014 |
Ganglioglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
91
|
7
|
0.040 |
None |
0.750 |
4 |
|
2014 |
2019 |