MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
5 |
3
|
2013 |
2019 |
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Late-onset distal muscle weakness
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Autophagic vaculoes (finding)
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intrahepatic bile duct
|
disease |
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dermatographic urticaria
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pelvic girdle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Increased connective tissue
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the thyroid gland
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Centrally nucleated skeletal muscle fibers
|
phenotype |
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Onychomycosis
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Conjugated hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anti-nuclear factor positive
|
phenotype |
Skin and Connective Tissue Diseases
|
Laboratory or Test Result
|
35
|
3
|
0.100 |
None |
|
0 |
|
|
|
Difficulty running
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Excessive daytime somnolence
|
phenotype |
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal inflammation
|
disease |
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
Rous Sarcoma
|
disease |
Neoplasms; Infections; Animal Diseases
|
Neoplastic Process; Experimental Model of Disease
|
60
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
73
|
11
|
0.100 |
None |
|
0 |
|
|
|
Winged scapula
|
phenotype |
|
Finding
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypotension, Orthostatic
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
82
|
21
|
0.100 |
None |
|
0 |
|
|
|