COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.400 |
moderate |
1.000 |
1 |
1
|
2014 |
2014 |
Coloboma of lens
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Coloboma of choroid and retina
|
disease |
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Uveoretinal Coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
8
|
|
0.300 |
None |
|
0 |
|
|
|
Hereditary macular coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Coloboma of eyelid
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Coloboma of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
30
|
14
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.420 |
None |
1.000 |
2 |
|
2014 |
2017 |
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Adult Synovial Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
198
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Childhood Synovial Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
198
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
synovial sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
299
|
4
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2017 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Childhood Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
338
|
36
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Ovarian Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
539
|
19
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2017 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
644
|
23
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Sarcoma
|
group |
Neoplasms
|
Neoplastic Process
|
853
|
42
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |