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 |
Optic Nerve Astrocytoma
|
disease |
Neoplasms; Eye Diseases; Nervous System Diseases
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
3097
|
353
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
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 |
Malignant tumor, fusiform cell type
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Infratentorial Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
Rosette-forming glioneuronal tumor of the fourth ventricle
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Brain Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1018
|
204
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Subependymal Giant Cell Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
44
|
2
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
Central Nervous System Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
180
|
72
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Grade I Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive night blindness
|
phenotype |
Eye Diseases
|
Finding
|
87
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Atypical scarring of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
101
|
1
|
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 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.100 |
None |
|
0 |
|
|
|
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.100 |
None |
|
0 |
|
|
|