Bilirubin measurement
|
phenotype |
|
Laboratory Procedure
|
56
|
535
|
0.100 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Leishmania donovani disease
|
disease |
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bilirubin level result
|
phenotype |
|
Laboratory or Test Result
|
32
|
478
|
0.100 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Oncocytic Neoplasm
|
disease |
|
Neoplastic Process
|
105
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Night blindness, stationary
|
disease |
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
trachomatis
|
disease |
|
Disease or Syndrome
|
175
|
7
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Decreased light- and dark-adapted electroretinogram amplitude
|
phenotype |
|
Finding
|
15
|
1
|
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 |
|
|
|
RETINITIS PIGMENTOSA 47
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
limited |
|
0 |
1
|
|
|
Abnormality of macular pigmentation
|
disease |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Juvenile polyposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
48
|
138
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
|
2006 |
2006 |
Oguchi disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
8
|
7
|
0.650 |
strong |
0.857 |
7 |
2
|
1995 |
2012 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.650 |
strong |
1.000 |
6 |
1
|
1985 |
2018 |
Night blindness, congenital stationary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
32
|
52
|
0.710 |
strong |
1.000 |
3 |
|
1995 |
2009 |
Oguchi Disease 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
2
|
6
|
0.600 |
None |
1.000 |
2 |
6
|
1995 |
1998 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |