Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Osteolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Spindle cell hemangioma
|
disease |
Neoplasms
|
Neoplastic Process
|
68
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aphasia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
86
|
3
|
0.100 |
None |
|
0 |
|
|
|
Language Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
94
|
25
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hepatoblastoma Caused By Somatic Mutation
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
106
|
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
108
|
206
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
|
|
|
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
NONAKA MYOPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
132
|
81
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Osteitis Deformans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
134
|
58
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.100 |
None |
|
0 |
|
|
|
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Zika Virus Infection
|
disease |
Infections
|
Disease or Syndrome
|
192
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Frontotemporal Lobar Degeneration
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
195
|
54
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pick Disease of the Brain
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
213
|
83
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|