Central Core Myopathy (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
110
|
1.000 |
None |
1.000 |
119 |
106
|
1993 |
2019 |
Malignant hyperpyrexia due to anesthesia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
60
|
52
|
0.900 |
strong |
0.958 |
239 |
46
|
1990 |
2020 |
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
20
|
0.800 |
None |
1.000 |
27 |
20
|
2002 |
2019 |
Malignant hyperthermia susceptibility type 1
|
disease |
Pathological Conditions, Signs and Symptoms
|
Finding
|
1
|
97
|
0.700 |
strong |
1.000 |
47 |
97
|
1991 |
2017 |
Autosomal Recessive Centronuclear Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.500 |
None |
1.000 |
2 |
|
2007 |
2010 |
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.500 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.440 |
None |
1.000 |
5 |
12
|
2007 |
2018 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.400 |
strong |
0.953 |
43 |
5
|
1993 |
2019 |
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
limited |
|
0 |
2
|
|
|
Cleidocranial Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
52
|
22
|
0.390 |
moderate |
1.000 |
10 |
|
1993 |
2013 |
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.390 |
None |
1.000 |
9 |
|
2007 |
2019 |
King Denborough syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
1
|
|
0.330 |
None |
1.000 |
4 |
|
2008 |
2018 |
Congenital Structural Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2018 |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
13
|
0.310 |
None |
1.000 |
2 |
|
2014 |
2016 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2346
|
222
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Benign Samaritan congenital myopathy
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Myopathy, Centronuclear, Autosomal Recessive
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
6
|
9
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Tubular Aggregate Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
67
|
5
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Chromophobe Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
185
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Sarcomatoid Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
134
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Collecting Duct Carcinoma of the Kidney
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
162
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Myopathy, Centronuclear, 1
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Autosomal Dominant Myotubular Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Papillary Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
223
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Multiple pterygium syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
9
|
11
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |