Gowers sign
|
phenotype |
|
Finding
|
54
|
8
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Cyst of pineal gland
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.300 |
strong |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Very long chain fatty acid accumulation
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cholecystitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Fatty replacement of skeletal muscle
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
|
|
|
Increased lactate dehydrogenase activity
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased intramyocellular lipid droplets
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperlipoproteinemia Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
36
|
64
|
0.010 |
None |
1.000 |
1 |
|
1977 |
1977 |
Kidney Failure, Acute
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
826
|
32
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Pre-renal acute kidney injury
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
67
|
4
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Childhood Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
12
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Adult Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
509
|
12
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Retinopathy of Prematurity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
202
|
16
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2010 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
14 |
|
2003 |
2018 |
Childhood Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
338
|
36
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |