CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
6
|
0.730 |
strong |
1.000 |
4 |
6
|
2001 |
2016 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
strong |
1.000 |
1 |
2
|
2001 |
2001 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.320 |
strong |
1.000 |
2 |
|
2001 |
2019 |
Congenital disorder of glycosylation type 1q
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
9
|
6
|
0.300 |
strong |
1.000 |
1 |
|
2001 |
2001 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.110 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Testosterone measurement
|
phenotype |
|
Laboratory Procedure
|
14
|
23
|
0.100 |
None |
1.000 |
2 |
2
|
2013 |
2019 |
Follicle stimulating hormone measurement
|
phenotype |
|
Laboratory Procedure
|
9
|
12
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Sex hormone binding globulin measurement
|
phenotype |
|
Laboratory Procedure
|
11
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
IGA Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
456
|
130
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Hyperkeratosis, CTCAE
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
176
|
19
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Frontal lobe hypoplasia
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
obsolete Hypopigmented fundi
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
1
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal isoelectric focusing of serum transferrin
|
phenotype |
|
Finding
|
15
|
10
|
0.100 |
None |
|
0 |
2
|
|
|
Deficiency of glucose-6-phosphate dehydrogenase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
75
|
20
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of vision
|
disease |
|
Finding
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
1
|
|
|