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
Impairment of galactose metabolism
phenotype
Finding
3
1
0.100
None
0
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
Hypergalactosemia
phenotype
Finding
4
0.100
None
0
Cataract secondary to ocular disorder
disease
Eye Diseases
Disease or Syndrome
5
1
0.010
None
1.000
1
1980
1980
Unspecified secondary cataract
disease
Eye Diseases
Disease or Syndrome
5
1
0.010
None
1.000
1
1980
1980
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
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
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
Presenile cataract
disease
Eye Diseases
Disease or Syndrome
8
2
0.040
None
1.000
4
1978
1995
Congenital Bilateral Cataracts
disease
Disease or Syndrome
8
1
0.010
None
1.000
1
1986
1986
After-cataract
disease
Eye Diseases
Disease or Syndrome
22
2
0.010
None
1.000
1
1980
1980
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
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
Prolonged neonatal jaundice
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Finding
59
14
0.100
None
0
Age-related cataract
disease
Eye Diseases
Acquired Abnormality
92
15
0.020
None
0.500
2
2001
2003
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
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
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
Bilateral cataracts (disorder)
disease
Eye Diseases
Disease or Syndrome
166
37
0.050
None
1.000
5
1
1986
2018