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
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
Bilateral cataracts (disorder)
disease
Eye Diseases
Disease or Syndrome
166
37
0.050
None
1.000
5
1
1986
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
Disorder of galactose metabolism
disease
Disease or Syndrome
1
0.010
None
1.000
1
2018
2018
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
Metabolic Diseases
group
Nutritional and Metabolic Diseases
Disease or Syndrome
945
50
0.010
None
1.000
1
2017
2017
Liver neoplasms
group
Digestive System Diseases; Neoplasms
Neoplastic Process
1424
7
0.010
None
< 0.001
1
2016
2016
Liver carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
5725
942
0.010
None
< 0.001
1
2016
2016
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
Benign melanocytic nevus
disease
Neoplasms
Neoplastic Process
122
20
0.010
None
1.000
1
2012
2012
×
CUI:
C0027960
Disease:
Nevus
Nevus
disease
Neoplasms
Neoplastic Process
125
43
0.010
None
1.000
1
2012
2012
Melanocytic nevus
disease
Neoplasms
Neoplastic Process
297
33
0.010
None
1.000
1
2012
2012
Age-related cataract
disease
Eye Diseases
Acquired Abnormality
92
15
0.020
None
0.500
2
2001
2003
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
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
Galactosuria
phenotype
Disease or Syndrome
4
0.110
None
1.000
1
2002
2002
Inborn Errors of Metabolism
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome; Congenital Abnormality
119
3
0.010
None
1.000
1
1998
1998
Presenile cataract
disease
Eye Diseases
Disease or Syndrome
8
2
0.040
None
1.000
4
1978
1995
Lens Opacities
phenotype
Eye Diseases
Finding
24
0.300
None
1.000
1
1995
1995
Pseudoaphakia
disease
Eye Diseases
Disease or Syndrome
28
0.300
None
1.000
1
1995
1995
Colorectal Carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
5473
1962
0.010
None
1.000
1
1
1991
1991