Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.370 |
strong |
1.000 |
7 |
1
|
2013 |
2019 |
ALBINISM, OCULOCUTANEOUS, TYPE VI
|
disease |
|
Disease or Syndrome
|
3
|
2
|
0.430 |
None |
1.000 |
6 |
2
|
2013 |
2019 |
Oculocutaneous albinism type 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
2
|
5
|
0.410 |
None |
1.000 |
2 |
5
|
2013 |
2019 |
Albinism, Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
37
|
10
|
0.210 |
None |
1.000 |
2 |
|
2008 |
2017 |
Skin Pigmentation
|
phenotype |
|
Organ or Tissue Function
|
24
|
72
|
0.100 |
None |
1.000 |
2 |
2
|
2007 |
2017 |
Ocular albinism, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
38
|
24
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
126
|
15
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hantavirus Infections
|
group |
Infections
|
Disease or Syndrome
|
108
|
10
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
54
|
6
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Skin-Hair-Eye Pigmentation, Variation In, 4
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
Generalized hypopigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal foveal morphology on macular OCT
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the macula
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal iris pigmentation
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|