Deficiency of galactokinase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
22
|
0.800 |
None |
1.000 |
18 |
22
|
1986 |
2018 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.500 |
None |
0.909 |
11 |
|
1986 |
2018 |
Galactosemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
16
|
0.400 |
None |
0.933 |
15 |
|
1988 |
2019 |
Classical galactosemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
233
|
0.400 |
None |
0.923 |
13 |
|
1988 |
2019 |
UDPglucose 4-epimerase deficiency disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
16
|
0.320 |
None |
1.000 |
3 |
|
1995 |
2017 |
Pseudoaphakia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
1995 |
1995 |
Lens Opacities
|
phenotype |
Eye Diseases
|
Finding
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
1995 |
1995 |
Galactosuria
|
phenotype |
|
Disease or Syndrome
|
4
|
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Weber-Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
42
|
0.100 |
None |
1.000 |
2 |
1
|
1999 |
2002 |
Epidermolysis bullosa with pyloric atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
7
|
17
|
0.100 |
None |
1.000 |
2 |
4
|
1999 |
2002 |
Adult junctional epidermolysis bullosa (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
35
|
0.100 |
None |
1.000 |
2 |
1
|
1999 |
2002 |
Hypergalactosemia
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Impairment of galactose metabolism
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Prolonged neonatal jaundice
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
59
|
14
|
0.100 |
None |
|
0 |
|
|
|
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.050 |
None |
1.000 |
5 |
1
|
1986 |
2018 |
Presenile cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
8
|
2
|
0.040 |
None |
1.000 |
4 |
|
1978 |
1995 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.040 |
None |
1.000 |
4 |
|
1995 |
2014 |
Age-related cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
92
|
15
|
0.020 |
None |
0.500 |
2 |
|
2001 |
2003 |
Benign melanocytic nevus
|
disease |
Neoplasms
|
Neoplastic Process
|
122
|
20
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
After-cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
22
|
2
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
< 0.001 |
1 |
|
2016 |
2016 |
Congenital Bilateral Cataracts
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
Human immunodeficiency virus (HIV) II infection category B1
|
disease |
|
Disease or Syndrome
|
985
|
56
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Disorder of galactose metabolism
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |