Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Tumor necrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Neoplastic Process
|
350
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Tuberculosis
|
disease |
Infections
|
Disease or Syndrome
|
1256
|
328
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2084
|
288
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Polyglucosan body myopathy type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2014 |
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
|
disease |
|
Disease or Syndrome
|
2
|
10
|
0.600 |
None |
1.000 |
5 |
10
|
2012 |
2018 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.050 |
None |
1.000 |
5 |
|
2013 |
2018 |
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Inflammatory disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
391
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Immune System Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
451
|
116
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Glycogen Storage Disease Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
21
|
0.130 |
None |
1.000 |
3 |
1
|
2012 |
2015 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Diffuse Large B-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1043
|
127
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
496
|
16
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|