Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the thyroid gland
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Late-onset distal muscle weakness
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intrahepatic bile duct
|
disease |
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Gastrointestinal inflammation
|
disease |
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.100 |
None |
|
0 |
|
|
|
Increased connective tissue
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Centrally nucleated skeletal muscle fibers
|
phenotype |
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Pelvic girdle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Ascites
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
198
|
7
|
0.100 |
None |
|
0 |
|
|
|
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.100 |
None |
|
0 |
|
|
|
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hypotension, Orthostatic
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
82
|
21
|
0.100 |
None |
|
0 |
|
|
|
Portal Hypertension
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
167
|
9
|
0.100 |
None |
|
0 |
|
|
|
Abdomen distended
|
phenotype |
Digestive System Diseases
|
Finding
|
103
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hepatitis
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
656
|
42
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
Celiac Disease
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
527
|
263
|
0.100 |
None |
|
0 |
|
|
|