Nemaline Myopathy 2
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
265
|
0.920 |
definitive |
1.000 |
39 |
265
|
1998 |
2018 |
Myopathies, Nemaline
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
42
|
0.500 |
strong |
1.000 |
54 |
22
|
1998 |
2019 |
Congenital myopathy (disorder)
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
63
|
10
|
0.360 |
limited |
1.000 |
7 |
|
2002 |
2016 |
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 |
1 |
|
2017 |
2017 |
Nemaline Myopathy, Childhood Onset
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.200 |
None |
1.000 |
13 |
|
1993 |
2019 |
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2017 |
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2014 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
12 |
1
|
1988 |
2017 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
12 |
2
|
1988 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
12 |
3
|
1988 |
2017 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
2 |
3
|
2019 |
2019 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hydrops Fetalis, Non-Immune
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
22
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Creatine kinase measurement
|
phenotype |
|
Laboratory Procedure
|
29
|
51
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Squamous cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
670
|
283
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Muscle weakness of limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|
Severe muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Neck flexor weakness
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Nocturnal hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|