Hepatic glycogen storage
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Glycogen Storage Disease IXC
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
11
|
0.710 |
strong |
1.000 |
5 |
11
|
1996 |
2018 |
Mauriac's syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Neutrophil count decreased
|
phenotype |
|
Finding
|
4
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Deficiency of phosphorylase kinase
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2014 |
Fatigable weakness of skeletal muscles
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Autosomal recessive hypophosphatemic vitamin D refractory rickets
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
11
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Glycogen storage disease, type IX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
14
|
4
|
0.040 |
None |
1.000 |
4 |
|
1996 |
2018 |
Hypoglycemic seizures
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Bile duct proliferation
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Pfaundler-Hurler Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
90
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Fasting Hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
1
|
0.100 |
None |
|
0 |
|
|
|
Esophageal Varices
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
56
|
5
|
0.100 |
None |
|
0 |
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.570 |
strong |
1.000 |
8 |
|
1996 |
2018 |
Growth failure
|
phenotype |
|
Disease or Syndrome
|
84
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Abdomen distended
|
phenotype |
Digestive System Diseases
|
Finding
|
103
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hepatocellular Adenoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
114
|
7
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
1
|
|
|
Hyperuricemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
196
|
76
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|