Abnormal color vision
|
phenotype |
|
Finding
|
5
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
|
0 |
1
|
|
|
Achromatopsia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
63
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Achromatopsia 1
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
14
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Adult Liver Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1377
|
72
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Atypical scarring of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
101
|
1
|
0.100 |
None |
|
0 |
|
|
|
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.080 |
None |
0.875 |
8 |
3
|
2007 |
2019 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.020 |
None |
1.000 |
2 |
2
|
2000 |
2010 |
Bacterial Infections
|
group |
Infections
|
Disease or Syndrome
|
616
|
17
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2016 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Cholangiocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
877
|
43
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Color Blindness, Blue
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
25
|
12
|
0.100 |
None |
|
0 |
|
|
|
Color Blindness, Red-Green
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
|
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 |
|
|
|
Cone monochromatism
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.100 |
None |
|
0 |
2
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |